SLC45A2

Summary

Gene Symbol: SLC45A2
Description: solute carrier family 45 member 2
Alias: 1A1, AIM1, MATP, OCA4, SHEP5, membrane-associated transporter protein, melanoma antigen AIM1, protein AIM-1, underwhite
Species: human
Products:     SLC45A2

Top Publications

  1. Graf J, Voisey J, Hughes I, van Daal A. Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation. Hum Mutat. 2007;28:710-7 pubmed
    Human pigmentation is a complex physical trait in which the membrane-associated transporter protein (MATP) plays an important role as it is involved in intracellular processing and trafficking of melanosomal proteins...
  2. Stokowski R, Pant P, Dadd T, Fereday A, Hinds D, Jarman C, et al. A genomewide association study of skin pigmentation in a South Asian population. Am J Hum Genet. 2007;81:1119-32 pubmed
    ..Polymorphisms in three genes--SLC24A5, TYR, and SLC45A2--yielded highly significant replicated associations with skin-reflectance measurements, an indirect measure of ..
  3. Duffy D, Zhao Z, Sturm R, Hayward N, Martin N, Montgomery G. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J Invest Dermatol. 2010;130:520-8 pubmed publisher
    ..protein 1), MC1R, OCA2, IRF4 (interferon regulatory factor 4), SLC24A4 (solute carrier family 24, member 4), and SLC45A2 (solute carrier family 45, member 2)) for association with CMM risk in a large Australian population-based case-..
  4. Newton J, Cohen Barak O, Hagiwara N, Gardner J, Davisson M, King R, et al. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet. 2001;69:981-8 pubmed
    ..We have identified the mouse underwhite gene (uw) and its human orthologue, which underlies a new form of human OCA, termed "OCA4...
  5. Nakayama K, Fukamachi S, Kimura H, Koda Y, Soemantri A, Ishida T. Distinctive distribution of AIM1 polymorphism among major human populations with different skin color. J Hum Genet. 2002;47:92-4 pubmed
    ..The gene for the AIM-1 protein (AIM1) was recently found to be responsible for the body color of medaka fish...
  6. Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann Kellner B. Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Hum Mutat. 2004;23:106-10 pubmed
    ..OCA in a single patient with a splice site mutation in the MATP gene (or AIM1), the human ortholog of the murine underwhite gene...
  7. Yuasa I, Umetsu K, Harihara S, Kido A, Miyoshi A, Saitou N, et al. Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis. Ann Hum Genet. 2006;70:802-11 pubmed
    ..The L374F mutation in the SLC45A2 gene encoding MATP has been suggested to be associated with skin colour in major human populations...
  8. Nan H, Kraft P, Hunter D, Han J. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Int J Cancer. 2009;125:909-17 pubmed publisher
    ..We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer ..
  9. Gargiulo A, Testa F, Rossi S, Di Iorio V, Fecarotta S, de Berardinis T, et al. Molecular and clinical characterization of albinism in a large cohort of Italian patients. Invest Ophthalmol Vis Sci. 2011;52:1281-9 pubmed publisher
    ..of albinism were analyzed by direct sequencing analysis of five genes responsible for albinism: TYR, P, TYRP1, SLC45A2 (MATP), and OA1. All patients studied showed a variable degree of skin and hair hypopigmentation...

More Information

Publications107 found, 100 shown here

  1. Fukamachi S, Shimada A, Shima A. Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nat Genet. 2001;28:381-5 pubmed
    ..Here, we report the first successful positional cloning of a medaka gene (AIM1): one that encodes a transporter that mediates melanin synthesis...
  2. Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, et al. Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Am J Hum Genet. 2004;74:466-71 pubmed
    ..Four different types of OCA have been reported to date (OCA1, OCA2, OCA3, and OCA4)...
  3. Branicki W, Brudnik U, Draus Barini J, Kupiec T, Wojas Pelc A. Association of the SLC45A2 gene with physiological human hair colour variation. J Hum Genet. 2008;53:966-71 pubmed publisher
    ..Several genes have already been associated with natural differences in human pigmentation. The SLC45A2 gene encoding a transporter protein involved in melanin synthesis is considered to be one of the most important ..
  4. Wei A, Wang Y, Long Y, Wang Y, Guo X, Zhou Z, et al. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. J Invest Dermatol. 2010;130:716-24 pubmed publisher
    ..We screened 127 unrelated and unselected Chinese OCA patients for mutations in the TYR, OCA2, TYRP1, SLC45A2, and HPS1 genes. We found that the spectrum of mutational genes and alleles of OCA is population specific...
  5. Yuasa I, Umetsu K, Watanabe G, Nakamura H, Endoh M, Irizawa Y. MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids. Int J Legal Med. 2004;118:364-6 pubmed
    ..In this study, five polymorphisms of the membrane-associated transporter protein (MATP) gene were investigated in German and Japanese populations...
  6. Suzuki T, Inagaki K, Fukai K, Obana A, Lee S, Tomita Y. A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. Br J Dermatol. 2005;152:174-5 pubmed
  7. Graf J, Hodgson R, van Daal A. Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Hum Mutat. 2005;25:278-84 pubmed
    ..A recently identified form of OCA results from mutations in the Membrane Associated Transporter Protein (MATP) gene. The role of MATP in human pigmentation is not clear...
  8. Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, et al. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet. 2008;4:e1000074 pubmed publisher
    ..52). One variant in the MATP gene was associated with hair color...
  9. Guedj M, Bourillon A, Combadières C, Rodero M, Dieude P, Descamps V, et al. Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. Hum Mutat. 2008;29:1154-60 pubmed publisher
    In this study, we investigated whether variants in three key pigmentation genes-MC1R, MATP/SLC45A2, and OCA2--were involved in melanoma predisposition...
  10. Lucotte G, Mercier G, Dieterlen F, Yuasa I. A decreasing gradient of 374F allele frequencies in the skin pigmentation gene SLC45A2, from the north of West Europe to North Africa. Biochem Genet. 2010;48:26-33 pubmed publisher
    The 374F mutation in the SLC45A2 gene, encoding the membrane-associated transporter protein (MATP) that plays an important role in melanin synthesis, has been suggested to be associated with skin color in Caucasians...
  11. Lucotte G, Yuasa I. Near fixation of 374l allele frequencies of the skin pigmentation gene SLC45A2 in Africa. Biochem Genet. 2013;51:655-65 pubmed publisher
    The L374F polymorphism of the SLC45A2 gene, encoding the membrane-associated transporter protein that plays an important role in melanin synthesis, has been suggested to be associated with skin color in human populations...
  12. Fernandez L, Milne R, Pita G, Avilés J, Lazaro P, Benitez J, et al. SLC45A2: a novel malignant melanoma-associated gene. Hum Mutat. 2008;29:1161-7 pubmed publisher
    ..We found that the variant allele of c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 (membrane associated transporter previously known as MATP) was associated with protection from MM (OR, 0...
  13. Ibarrola Villava M, Hu H, Guedj M, Fernandez L, Descamps V, Basset Seguin N, et al. MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis. Eur J Cancer. 2012;48:2183-91 pubmed publisher
    ..in a meta-analysis conducted in three South European populations: five red hair colour (RHC) MC1R alleles, one SLC45A2 variant (p.Phe374Leu) and one thermosensitive TYR variant (p.Arg402Gln)...
  14. He H, Mennone A, Boyer J, Cai S. Combination of retinoic acid and ursodeoxycholic acid attenuates liver injury in bile duct-ligated rats and human hepatic cells. Hepatology. 2011;53:548-57 pubmed publisher
    ..reduced liver messenger RNA and/or protein expression of transforming growth factor β1 (Tgf-β1), collagen 1a1 (Col1A1), matrix metalloproteinase 2 (Mmp2), cytokeratin 19, α-smooth muscle actin (α-SMA), cytochrome P450 ..
  15. Smith R, Moccia R, Seymour C, Mothersill C. Irradiation of rainbow trout at early life stages results in a proteomic legacy in adult gills. Part A; proteomic responses in the irradiated fish and in non-irradiated bystander fish. Environ Res. 2018;163:297-306 pubmed publisher
    ..isoform X3 (YSL) and superoxide dismutase (first feeder), and upregulation of haemoglobin subunit alpha, collagen 1a1 precursor, apolipoprotein A-1-1 and A-1-2 precursor (first feeders)...
  16. Yamaza T, Alatas F, Yuniartha R, Yamaza H, Fujiyoshi J, Yanagi Y, et al. In vivo hepatogenic capacity and therapeutic potential of stem cells from human exfoliated deciduous teeth in liver fibrosis in mice. Stem Cell Res Ther. 2015;6:171 pubmed publisher
    ..Sorted HLA-positive cells not only expressed human hepatocyte-specific genes including albumin, cytochrome P450 1A1, fumarylacetoacetase, tyrosine aminotransferase, uridine 5'-diphospho-glucuronosyltransferase, transferrin and ..
  17. Ghonem N, Assis D, Boyer J. Fibrates and cholestasis. Hepatology. 2015;62:635-43 pubmed publisher
    ..including cytochrome P450 (CYP) isoform 7A1 (CYP7A1), CYP27A1, CYP8B1, uridine 5'-diphospho-glucuronosyltransferase 1A1, 1A3, 1A4, 1A6, hydroxysteroid sulfotransferase enzyme 2A1, multidrug resistance protein 3, and apical sodium-..
  18. Zeng H, Li D, Qin X, Chen P, Tan H, Zeng X, et al. Hepatoprotective Effects of Schisandra sphenanthera Extract against Lithocholic Acid-Induced Cholestasis in Male Mice Are Associated with Activation of the Pregnane X Receptor Pathway and Promotion of Liver Regeneration. Drug Metab Dispos. 2016;44:337-42 pubmed publisher
    ..hepatic expression of pregnane X receptor (PXR) target genes such as CYP3A11 and UDP-glucuronosyltransferase (UGT) 1A1 were significantly increased by WZ treatment...
  19. Barrand S, Crowley T, Wood Bradley R, De Jong K, Armitage J. Impact of maternal high fat diet on hypothalamic transcriptome in neonatal Sprague Dawley rats. PLoS ONE. 2017;12:e0189492 pubmed publisher
    ..05), including genes coding for proteins of the extra cellular matrix, particularly Collagen 1a1 (Col1a1), Col1a2, Col3a1, and the imprinted Insulin-like growth factor 2 (Igf2) gene...
  20. Carta A, Pavanello S, Mastrangelo G, Fedeli U, Arici C, Porru S. Impact of Occupational Exposures and Genetic Polymorphisms on Recurrence and Progression of Non-Muscle-Invasive Bladder Cancer. Int J Environ Res Public Health. 2018;15: pubmed publisher
    ..T1; P1 (GSTM1; GSTT1; GSTP1); N-acetyltransferase 1; 2 (NAT1; NAT2); cytochrome P450 1B1 (CYP1B1); sulfotransferase 1A1 (SULT1A1); myeloperoxidase (MPO); catechol-O-methyltransferase (COMT); manganese superoxide dismutase (MnSOD); NAD(..
  21. Mrazek A, Porro L, Bhatia V, Falzon M, Spratt H, Zhou J, et al. Apigenin inhibits pancreatic stellate cell activity in pancreatitis. J Surg Res. 2015;196:8-16 pubmed publisher
    ..protein-stimulated increases in the PSC messenger RNA expression levels of extracellular matrix proteins collagen 1A1 and fibronectin, proliferating cell nuclear antigen, transforming growth factor-beta, and interleukin-6...
  22. Zapletal O, Tylichová Z, Neca J, Kohoutek J, Machala M, Milcova A, et al. Butyrate alters expression of cytochrome P450 1A1 and metabolism of benzo[a]pyrene via its histone deacetylase activity in colon epithelial cell models. Arch Toxicol. 2017;91:2135-2150 pubmed publisher
    ..This in vitro study suggests that butyrate, through modulation of histone acetylation, may potentiate induction of CYP1A1 expression, which might in turn alter the metabolism of BaP within colon epithelial cells. ..
  23. Hu Y, Ye X, Zhou Q, Fu R. Sestrin 2 Attenuates Rat Hepatic Stellate Cell (HSC) Activation and Liver Fibrosis via an mTOR/AMPK-Dependent Mechanism. Cell Physiol Biochem. 2018;51:2111-2122 pubmed publisher
    ..The mRNA expression levels of markers of liver fibrosis [alpha-smooth muscle actin (α-SMA) and collagen 1A1 (Col1A1)] were analyzed by quantitative reverse transcription-polymerase chain reaction (RT-PCR)...
  24. Yamaguchi Y, Hearing V. Physiological factors that regulate skin pigmentation. Biofactors. 2009;35:193-9 pubmed publisher
    ..tyrosinase, tyrosinase-related protein 1, and dopachrome tautomerase, which depend on the functions of OA1, P, MATP, ATP7A, and BLOC-1 to synthesize eumelanins and pheomelanins...
  25. Karakus E, Halici Z, Albayrak A, Bayir Y, Demirci E, Aydin A, et al. Effects of Administration of Amlodipine and Lacidipine on Inflammation-Induced Bone Loss in the Ovariectomized Rat. Inflammation. 2016;39:336-346 pubmed publisher
    ..Gene expression levels of the osteogenic factor runt-related transcription factor 2 (Runx2) and type I collagen 1A1 (Col1A1) significantly decreased in the OVXinf group, when compared with the control group...
  26. Xu C, Tang X, Qu Y, Keyoumu S, Zhou N, Tang Y. UGT1A1 gene polymorphism is associated with toxicity and clinical efficacy of irinotecan-based chemotherapy in patients with advanced colorectal cancer. Cancer Chemother Pharmacol. 2016;78:119-30 pubmed publisher
    To investigate the relationship between uridine diphosphate glucoronosyltransferase 1A1 (UGT1A1)*28/*6 and toxicity and clinical efficacy of irinotecan-based chemotherapy in patients with advanced colorectal cancer (CRC) in Xinjiang ..
  27. Galli E, Midonet C, Paly E, Barre F. Fast growth conditions uncouple the final stages of chromosome segregation and cell division in Escherichia coli. PLoS Genet. 2017;13:e1006702 pubmed publisher
    ..cholerae. However, recent microscopic studies suggested that E. coli FtsK served to release the MatP-mediated cohesion and/or cell division apparatus-interaction of sister copies of the dif region independently of ..
  28. Gao X, Li T, Wei B, Yan Z, Hu N, Huang Y, et al. Bacterial Outer Membrane Vesicles from Dextran Sulfate Sodium-Induced Colitis Differentially Regulate Intestinal UDP-Glucuronosyltransferase 1A1 Partially Through Toll-Like Receptor 4/Mitogen-Activated Protein Kinase/Phosphatidylinositol 3-Kinase Pat. Drug Metab Dispos. 2018;46:292-302 pubmed publisher
    UDP-glucuronosyltransferase 1A1 (UGT1A1) constitutes an important part of intestinal epithelial barrier and catalyzes glucuronidation of many endogenous compounds and drugs...
  29. Tølbøl K, Kristiansen M, Hansen H, Veidal S, Rigbolt K, Gillum M, et al. Metabolic and hepatic effects of liraglutide, obeticholic acid and elafibranor in diet-induced obese mouse models of biopsy-confirmed nonalcoholic steatohepatitis. World J Gastroenterol. 2018;24:179-194 pubmed publisher
    ..evaluated by quantitative liver histology, including percent fractional area of liver fat, galectin-3, and collagen 1a1. Liraglutide and elafibranor, but not OCA, reduced body weight in both models...
  30. Harada M, Li Y, el Gamil M, Rosenberg S, Robbins P. Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells. Cancer Res. 2001;61:1089-94 pubmed
  31. Cook I, Wang T, Leyh T. Sulfotransferase 1A1 Substrate Selectivity: A Molecular Clamp Mechanism. Biochemistry. 2015;54:6114-22 pubmed publisher
    ..The specificity of 1A1 is the broadest of any SULT, and understanding its selectivity is fundamental to understanding its biology...
  32. GLENN D, Cardema M, Gardner D. Amplification of lipotoxic cardiomyopathy in the VDR gene knockout mouse. J Steroid Biochem Mol Biol. 2016;164:292-298 pubmed publisher
    ..This was accompanied by a dramatic increase in interstitial fibrosis and increased expression of collagen 1a1 and collagen 3a1, as well as the osteopontin and matrix metalloproteinase 2, genes...
  33. Moura A, Montalvany Antonucci C, Taddei S, Queiroz Junior C, Biguetti C, Garlet G, et al. Effects of angiotensin II type I receptor blocker losartan on orthodontic tooth movement. Am J Orthod Dentofacial Orthop. 2016;149:358-65 pubmed publisher
    ..and negative regulators of bone resorption (periostin, dentin matrix protein, alkaline phosphatase, collagen 1A1, semaphorin 3A3, metalloproteinase 2, and osteoprotegerin) were higher in the VH group...
  34. Miura T, Tachikawa M, Ohtsuka H, Fukase K, Nakayama S, Sakata N, et al. Application of Quantitative Targeted Absolute Proteomics to Profile Protein Expression Changes of Hepatic Transporters and Metabolizing Enzymes During Cholic Acid-Promoted Liver Regeneration. J Pharm Sci. 2017;106:2499-2508 pubmed publisher
    ..acid transporters Na+-taurocholate cotransporting polypeptide, anion transporting polypeptide (oatp) 1a1, and oatp1b2, bile acid synthesis-related enzymes cyp7a1 and cyp8b1, and drug transporters breast cancer resistance ..
  35. Stiborova M, Indra R, Moserova M, Bořek Dohalská L, Hodek P, Frei E, et al. Comparison of human cytochrome P450 1A1-catalysed oxidation of benzo[a]pyrene in prokaryotic and eukaryotic expression systems. Monatsh Chem. 2017;148:1959-1969 pubmed publisher
    Cytochrome P450 (CYP) 1A1 is the most important enzyme activating and detoxifying the human carcinogen benzo[a]pyrene (BaP)...
  36. Wang X, Lv X, Li S, Hou J, Ning J, Wang J, et al. Identification and characterization of naturally occurring inhibitors against UDP-glucuronosyltransferase 1A1 in Fructus Psoraleae (Bu-gu-zhi). Toxicol Appl Pharmacol. 2015;289:70-8 pubmed publisher
    ..the inhibitory effects of FP extract and its major constituents against human UDP-glucuronosyltransferase 1A1 (UGT1A1), the key enzyme responsible for metabolic elimination of bilirubin...
  37. Dinu D, Chu C, Veith A, Lingappan K, Couroucli X, Jefcoate C, et al. Mechanistic role of cytochrome P450 (CYP)1B1 in oxygen-mediated toxicity in pulmonary cells: A novel target for prevention of hyperoxic lung injury. Biochem Biophys Res Commun. 2016;476:346-351 pubmed publisher
    ..Recent studies have suggested an important role for cytochrome P450 (CYP)1A1/1A2 in the protection against hyperoxic lung injury...
  38. Salimi S, Sajadian M, Khodamian M, Yazdi A, Rezaee S, Mohammadpour Gharehbagh A, et al. Combination effect of cytochrome P450 1A1 gene polymorphisms on uterine leiomyoma: A case-control study. Bosn J Basic Med Sci. 2016;16:209-14 pubmed publisher
    ..This study aimed to evaluate the association between two single-nucleotide polymorphisms of cytochrome P450 1A1 (CYP1A1) gene and UL risk. The study consisted of 105 patients with UL and 112 healthy women as controls...
  39. Roy M, Connor J, Al Niaimi A, Rose S, Mahajan A. Aldehyde dehydrogenase 1A1 (ALDH1A1) expression by immunohistochemistry is associated with chemo-refractoriness in patients with high-grade ovarian serous carcinoma. Hum Pathol. 2018;73:1-6 pubmed publisher
    Aldehyde dehydrogenase-1A1 (ALDH1A1), CD133, CD44, and CD24 have been reported as cancer stem cell markers in ovarian cancers...
  40. Yuan X, Tong B, Dou Y, Wu X, Wei Z, Dai Y. Tetrandrine ameliorates collagen-induced arthritis in mice by restoring the balance between Th17 and Treg cells via the aryl hydrocarbon receptor. Biochem Pharmacol. 2016;101:87-99 pubmed publisher
    ..tetrandrine might be a ligand of AhR because it facilitated the expression of the AhR target gene cytochrome P450 1A1 (CYP1A1) and the activation of its downstream signaling pathways...
  41. Froyen E, Steinberg F. Genistein decreases basal hepatic cytochrome P450 1A1 protein expression and activity in Swiss Webster mice. Nutr Res. 2016;36:430-9 pubmed publisher
    ..One proposed mechanism for cancer prevention by soy is through decreasing cytochrome P450 1A1 (Cyp1a1) activity...
  42. El Sayyed H, Le Chat L, Lebailly E, Vickridge E, Pages C, Cornet F, et al. Mapping Topoisomerase IV Binding and Activity Sites on the E. coli Genome. PLoS Genet. 2016;12:e1006025 pubmed publisher
    ..This interaction is modulated by MatP, a protein involved in the organization of the Ter macrodomain...
  43. GallegosVargas J, SanchezRoldan J, RonquilloSanchez M, Carmona Aparicio L, FlorianoSanchez E, CardenasRodriguez N. Gene Expression of CYP1A1 and its Possible Clinical Application in Thyroid Cancer Cases. Asian Pac J Cancer Prev. 2016;17:3477-82 pubmed
    Thyroid cancer is the most common endocrine malignancy, and exact causes remain unknown. The role of CYP450 1A1 (CYP1A1) in cancer initiation and progression has been investigated...
  44. Dunlap T, Howell C, Mukand N, Chen S, Pauli G, Dietz B, et al. Red Clover Aryl Hydrocarbon Receptor (AhR) and Estrogen Receptor (ER) Agonists Enhance Genotoxic Estrogen Metabolism. Chem Res Toxicol. 2017;30:2084-2092 pubmed publisher
    ..In contrast, P450 1A1 catalyzed 2-hydroxylation represents a detoxification pathway...
  45. Huang C, Wang W, Sun C, Wang Y, Li L, Li Y, et al. Echinocystic acid ameliorates hyperhomocysteinemia-induced vascular endothelial cell injury through regulating NF-?B and CYP1A1. Exp Ther Med. 2017;14:4174-4180 pubmed publisher
    ..investigated the role of echinocystic acid (EA) on the expression of nuclear factor (NF)-?B and cytochrome P450 1A1 (CYP1A1), and aortic morphology, in a rat model of hyperhomocysteinemia (Hhcy)...
  46. Abu Serie M. Evaluation of the selective toxic effect of the charge switchable diethyldithiocarbamate-loaded nanoparticles between hepatic normal and cancerous cells. Sci Rep. 2018;8:4617 pubmed publisher
    ..with diethyldithiocarbamate (DDC) which is an inhibitor of the critical enzyme, aldehyde dehydrogenase (ALDH) 1A1, for CSCs survival. The charge switchable of coated DDC-loaded NPs in neutral and acidic pH (-19 and +28...
  47. Kausar T, Jaworek T, Tariq N, Sadia S, Ali M, Shaikh R, et al. Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism. J Invest Dermatol. 2013;133:1099-102 pubmed publisher
  48. Sun Q, Liu L, Mandal J, Molino A, Stolz D, Tamm M, et al. PDGF-BB induces PRMT1 expression through ERK1/2 dependent STAT1 activation and regulates remodeling in primary human lung fibroblasts. Cell Signal. 2016;28:307-15 pubmed publisher
    ..of ERK1/2 MAPK or of PRMT1 activity decreased PDGF-BB induced fibroblast proliferation, COX2 production, collagen-1A1 secretion, and fibronectin production...
  49. Guo R, Pan L, Lin P, Zheng L. The detoxification responses, damage effects and bioaccumulation in the scallop Chlamys farreri exposed to single and mixtures of benzo[a]pyrene and chrysene. Comp Biochem Physiol C Toxicol Pharmacol. 2017;191:36-51 pubmed publisher
    ..The mRNA expression of aryl hydrocarbon receptor (AhR), cytochrome P450 1A1 (CYP1A1), CYP1B1, multidrug resistance protein 1 (MRP1/ABCC1), breast cancer resistance protein (BCRP/ABCG2) and P-..
  50. Liu Q, Cui X, Yu X, Bian B, Qian F, Hu X, et al. Cripto-1 acts as a functional marker of cancer stem-like cells and predicts prognosis of the patients in esophageal squamous cell carcinoma. Mol Cancer. 2017;16:81 pubmed publisher
    ..The expression of CR-1 was found overlapping with aldehyde dehydrogenase 1A1 (ALDH1A1), an intracellular marker for ESCLCs, in ESCC cell lines and specimens...
  51. Kurundkar A, Kurundkar D, Rangarajan S, Locy M, Zhou Y, Liu R, et al. The matricellular protein CCN1 enhances TGF-β1/SMAD3-dependent profibrotic signaling in fibroblasts and contributes to fibrogenic responses to lung injury. FASEB J. 2016;30:2135-50 pubmed publisher
    ..in ex vivo IPF lung fibroblasts correlated with gene expression of the extracellular matrix proteins, collagen (Col)1a1, Col1a2, and fibronectin as well as the myofibroblast marker, α-smooth muscle actin...
  52. Lumetti S, Manfredi E, Ferraris S, Spriano S, Passeri G, Ghiacci G, et al. The response of osteoblastic MC3T3-E1 cells to micro- and nano-textured, hydrophilic and bioactive titanium surfaces. J Mater Sci Mater Med. 2016;27:68 pubmed publisher
    ..However, cells on smoother surfaces appeared to express higher levels of transcript for Collagen 1a1, the main component of extracellular matrix, by real time PCR...
  53. Ma C, Huang C, Yeh Y, Tsai H, Hu H, Wu I, et al. Regorafenib Plus FOLFIRI With Irinotecan Dose Escalated According to Uridine Diphosphate Glucuronosyltransferase 1A1 Genotyping in Patients With Metastatic Colorectal Cancer. Oncol Res. 2017;25:673-679 pubmed publisher
    ..plus FOLFIRI with the irinotecan dose escalation on the basis of uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) genotyping...
  54. Mazur Kominek K, Romanowski T, Bielawski K, Kiełbratowska B, Preis K, Domzalska Popadiuk I, et al. Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia. Acta Biochim Pol. 2017;64:351-356 pubmed publisher
    ..Hyperbilirubinemia was diagnosed more frequently in boys. Polymorphisms of the UGT1A1 gene frequently co-exist in neonates. The presence of UGT1A1*28 polymorphism and male gender seem to predispose to neonatal hyperbilirubinemia. ..
  55. Fracasso N, de Andrade E, Wiezel C, Andrade C, Zanão L, da Silva M, et al. Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil. Leg Med (Tokyo). 2017;25:43-51 pubmed publisher
    The Solute Carrier Family 45, Member 2 (SLC45A2) gene encodes the Membrane-Associated Transporter Protein (MATP), which mediates melanin synthesis by tyrosinase trafficking and proton transportation to melanosomes...
  56. Sun H, Zhou X, Wu B. Accurate identification of UDP-glucuronosyltransferase 1A1 (UGT1A1) inhibitors using UGT1A1-overexpressing HeLa cells. Xenobiotica. 2015;45:945-53 pubmed publisher
    1. UDP-glucuronosyltransferase 1A1 (UGT1A1) plays an irreplaceable role in detoxification of bilirubin and many drugs (e.g., SN-38)...
  57. Chen Z, Ye J, Ashraf U, Li Y, Wei S, Wan S, et al. MicroRNA-33a-5p Modulates Japanese Encephalitis Virus Replication by Targeting Eukaryotic Translation Elongation Factor 1A1. J Virol. 2016;90:3722-34 pubmed publisher
    ..A dual-luciferase reporter assay identified eukaryotic translation elongation factor 1A1 (EEF1A1) as one of the miR-33a-5p target genes...
  58. Galván I, Inácio Ã, Nielsen Ã. Gyrfalcons Falco rusticolus adjust CTNS expression to food abundance: a possible contribution to cysteine homeostasis. Oecologia. 2017;184:779-785 pubmed publisher
    ..genes regulating pheomelanin synthesis by different mechanisms of influence on cysteine availability (Slc7a11 and Slc45a2) or by other processes (MC1R and AGRP) was not affected by food abundance...
  59. Sengupta M, Chaki M, Arti N, Ray K. SLC45A2 variations in Indian oculocutaneous albinism patients. Mol Vis. 2007;13:1406-11 pubmed
    ..Mutations in the solute carrier family 45, member 2 gene (SLC45A2, also called MATP) cause oculocutaneous albinism type 4 (OCA4), which is the second most prevalent type of OCA in ..
  60. Barrett J, Iles M, Harland M, Taylor J, Aitken J, Andresen P, et al. Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet. 2011;43:1108-13 pubmed publisher
    ..6 × 10(-7) under a fixed-effects model and P = 1.2 × 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series. ..
  61. Lv X, Feng L, Ai C, Hou J, Wang P, Zou L, et al. A Practical and High-Affinity Fluorescent Probe for Uridine Diphosphate Glucuronosyltransferase 1A1: A Good Surrogate for Bilirubin. J Med Chem. 2017;: pubmed publisher
    ..aimed to develop a practical and high-affinity fluorescent probe for uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1), a key conjugative enzyme responsible for the elimination and detoxification of many potentially harmful ..
  62. Herrera Costa F, Narana Ribeiro El Achkar V, Costa V, Paladini I, Kowalski L, Rodarte Carvalho Y, et al. Different Expression of Aldehyde Dehydrogenases 1A1 and 2 in Oral Leukoplakia With Epithelial Dysplasia and in Oral Squamous Cell Carcinoma. Appl Immunohistochem Mol Morphol. 2017;: pubmed publisher
    ..This study demonstrated the gradual loss of ALDH1A1 expression in OSCC in comparison with OLP, and the increased ALDH2 expression in OSCC...
  63. Zühlke C, Criée C, Gemoll T, Schillinger T, Kaesmann Kellner B. Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population. Pigment Cell Res. 2007;20:225-7 pubmed
  64. Sergent T, Dupont I, Jassogne C, Ribonnet L, Van der Heiden E, Scippo M, et al. CYP1A1 induction and CYP3A4 inhibition by the fungicide imazalil in the human intestinal Caco-2 cells-comparison with other conazole pesticides. Toxicol Lett. 2009;184:159-68 pubmed publisher
    ..e. ketoconazole, propiconazole and tebuconazole, were also studied. IMA induced cytochrome P450 (CYP) 1A1 activity to the same extent as benzo(a)pyrene (B(a)P) or 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), in a dose- and ..
  65. Li R, Song M, Li Z, Li Y, Watanabe G, Nagaoka K, et al. 4-Nitrophenol exposure alters the AhR signaling pathway and related gene expression in the rat liver. J Appl Toxicol. 2017;37:150-158 pubmed publisher
    ..and AhR exhibited a significant increase in the 1 DE group whereas, in contrast, that of cytochrome P450 (CYP) 1A1 decreased significantly in the 3 DE +3 DR group...
  66. Pośpiech E, Karłowska Pik J, Ziemkiewicz B, Kukla M, Skowron M, Wojas Pelc A, et al. Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics. Int J Legal Med. 2016;130:923-34 pubmed publisher
    ..007) while the effect of rs16891982 in SLC45A2 was less significant. Gender was found to be significantly associated with eye colour with males having ~1...
  67. Chevereau M, Glatt H, Zalko D, Cravedi J, Audebert M. Role of human sulfotransferase 1A1 and N-acetyltransferase 2 in the metabolic activation of 16 heterocyclic amines and related heterocyclics to genotoxicants in recombinant V79 cells. Arch Toxicol. 2017;91:3175-3184 pubmed publisher
    ..Some studies have indicated a role of human sulfotransferase (SULT) 1A1 and N-acetyltransferase (NAT) 2 in the terminal activation of HAAs...
  68. Oki R, Yamada K, Nakano S, Kimoto K, Yamamoto K, Kondo H, et al. A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. Invest Ophthalmol Vis Sci. 2017;58:1008-1016 pubmed publisher
    We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation...
  69. Liu J, Zhao R, Ye Z, Frey A, Schriver E, Snyder N, et al. Relationship of SULT1A1 copy number variation with estrogen metabolism and human health. J Steroid Biochem Mol Biol. 2017;174:169-175 pubmed publisher
    Human cytosolic sulfotransferase 1A1 (SULT1A1) is considered to be one of the most important SULT isoforms for metabolism, detoxification, and carcinogenesis...
  70. Otsuki Y, Ii M, Moriwaki K, Okada M, Ueda K, Asahi M. W9 peptide enhanced osteogenic differentiation of human adipose-derived stem cells. Biochem Biophys Res Commun. 2018;495:904-910 pubmed publisher
    ..hAdSCs did not express the RANKL gene, but W9 treatment upregulated Runx2, Collagen type 1A1 and TGF receptor genes and increased Akt phosphorylation...
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    ..We elucidated the association of UGTs (1A1, 1A6, 1A7, 1A9 and 2B7), SLCOs (1B1, 1B3 and 2B1), ABCB1, ABCC2 and ABCG2 polymorphisms with steady-state ..
  72. Howell S, Marshall K, Reid M, McFarlane Anderson N, McKenzie C. A cross-sectional clinic based study exploring whether variants within the glutathione S-transferase, haptoglobin, and uridine 5'-diphosphoglucuronosyl transferase 1A1 genes are associated with inter-individual phenotypic variation in sickle cell ana. Eur J Haematol. 2017;: pubmed publisher
    ..associations between specific variants in either the glutathione S-transferase (GST), haptoglobin (HP), or uridine 5'-diphospho-glucuronosyltransferase 1A1 (UGT1A1) genes and clinically important phenotypes in sickle cell anaemia (HbSS).
  73. Shen Q, Yasmeen R, Marbourg J, Xu L, Yu L, Fadda P, et al. Induction of innervation by encapsulated adipocytes with engineered vitamin A metabolism. Transl Res. 2018;192:1-14 pubmed publisher
    ..encapsulation techniques and genetic tools, we manipulated retinoic acid-generating enzyme aldehyde dehydrogenase 1a1 (Aldh1a1) in adipocytes that are capable of promoting growth and innervation of white adipose tissue by sympathetic ..
  74. Cheng S, Lam W, Lee A, Fung K, Wu R, Fong W. Low-level doxorubicin resistance in benzo[a]pyrene-treated KB-3-1 cells is associated with increased LRP expression and altered subcellular drug distribution. Toxicol Appl Pharmacol. 2000;164:134-42 pubmed
    ..The expression of cytochrome P450 (CYP) 1A1, lung-resistance-related protein (LRP), P-gp, and MRP was investigated...
  75. Kamaraj B, Purohit R. Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach. J Cell Biochem. 2016;117:2608-19 pubmed publisher
    ..and eyes and caused by the genetic mutations in the membrane-associated transporter protein (MATP) encoded by SLC45A2 gene...
  76. Chen Y, Chan K. Transcriptional inhibition of TCDD-mediated induction of cytochrome P450 1A1 and alteration of protein expression in a zebrafish hepatic cell line following the administration of TCDD and Cd2. Toxicol Lett. 2018;282:121-135 pubmed publisher
    We studied the effects of Cd2+ on TCDD-mediated induction of the cytochrome P450 1A1 (cyp1a1) gene using a zebrafish liver cell line (ZFL)...
  77. Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, et al. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. Invest Ophthalmol Vis Sci. 2009;50:1058-64 pubmed publisher
    ..The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in patients with autosomal recessive albinism...
  78. Pang T, Lei J, Zheng H, Xu B, Jiang W, Li H. [Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011;28:1-5 pubmed publisher
    ..This study detected three reported pathogenic mutations of the membrane associated transporter protein gene (MATP), including G349R, D160H and P419L, and identified a novel pathogenic mutation c...
  79. Cullinane A, Vilboux T, O BRIEN K, Curry J, Maynard D, Carlson Donohoe H, et al. Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol. 2011;131:2017-25 pubmed publisher
    ..homozygosity mapping, followed by whole-exome sequencing, to identify two candidate disease-causing genes, SLC45A2 and G6PC3...
  80. Tong Z, Yerramilli U, Surapaneni S, Kumar G. The interactions of lenalidomide with human uptake and efflux transporters and UDP-glucuronosyltransferase 1A1: lack of potential for drug-drug interactions. Cancer Chemother Pharmacol. 2014;73:869-74 pubmed publisher
    ..In addition, inhibition of UDP-glucuronosyltransferase 1A1 (UGT1A1) variants by lenalidomide was also assessed.
  81. Marti A, Lasseaux E, Ezzedine K, Leaute Labreze C, Boralevi F, Paya C, et al. Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. Pigment Cell Melanoma Res. 2017;: pubmed publisher
    ..Causative genetic mutations were found in TYR (23/64, 35.9%), OCA2 (19/64, 29.7%), TYRP1 (1/64, 1.6%), SLC45A2 (12/64, 18.7%), C10orf11 (1/64, 1.6%), HPS1 (3/64, 4.7%), HPS5 (1/64, 1.5%), HPS6 (1/64, 1...
  82. Jarolim K, Wolters K, Woelflingseder L, Pahlke G, Beisl J, Puntscher H, et al. The secondary Fusarium metabolite aurofusarin induces oxidative stress, cytotoxicity and genotoxicity in human colon cells. Toxicol Lett. 2018;284:170-183 pubmed publisher
    ..However, induction of cytochrome P450 monooxygenase (CYP) 1A1 was measured at the gene expression and protein level...
  83. Stacey S, Sulem P, Masson G, Gudjonsson S, Thorleifsson G, Jakobsdottir M, et al. New common variants affecting susceptibility to basal cell carcinoma. Nat Genet. 2009;41:909-14 pubmed publisher
    ..A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma...
  84. Wu Q, Ning B, Xuan J, Ren Z, Guo L, Bryant M. The role of CYP 3A4 and 1A1 in amiodarone-induced hepatocellular toxicity. Toxicol Lett. 2016;253:55-62 pubmed publisher
    ..These data indicate that the metabolism of amiodarone to desethylamiodarone by CYP1A1 or CYP3A4 plays an important role in the hepatocellular toxicity of amiodarone. ..
  85. Lee S, Yang H, Um J, Shin J, Park I, Lee H. Vitamin D attenuates myofibroblast differentiation and extracellular matrix accumulation in nasal polyp-derived fibroblasts through smad2/3 signaling pathway. Sci Rep. 2017;7:7299 pubmed publisher
    ..acetylation of histone H3 was compromised by 1,25(OH)2D3, leading to inhibition of collagen 1A1, collagen 1A2 and α-SMA gene expression...
  86. Ishida K, Ullah M, Tóth B, Juhász V, Unadkat J. Successful Prediction of In Vivo Hepatobiliary Clearances and Hepatic Concentrations of Rosuvastatin Using Sandwich-Cultured Rat Hepatocytes, Transporter-Expressing Cell Lines, and Quantitative Proteomics. Drug Metab Dispos. 2018;46:66-74 pubmed publisher
    ..b> [Formula: see text] of RSV into cells expressing organic anion transporting polypeptide (Oatp) 1a1, 1a4, and 1b2 was also determined...
  87. Cook A, Chen W, Thurber A, Smit D, Smith A, Bladen T, et al. Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci. J Invest Dermatol. 2009;129:392-405 pubmed publisher
    Single nucleotide polymorphisms (SNPs) within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P genes have been associated with natural variation of pigmentation traits in human populations...
  88. Park S, Chae H, Kim Y, Kim M. Molecular analysis of Korean patients with oculocutaneous albinism. Jpn J Ophthalmol. 2012;56:98-103 pubmed publisher
    ..TYR, OCA2 and SLC45A2 were analyzed by direct DNA sequencing in five unrelated OCA patients who received thorough ophthalmic evaluation...
  89. López S, Garcia O, Yurrebaso I, Flores C, Acosta Herrera M, Chen H, et al. The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population. PLoS ONE. 2014;9:e104367 pubmed publisher
    We aimed to study the selective pressures interacting on SLC45A2 to investigate the interplay between selection and susceptibility to disease...
  90. Hernandez Pacheco N, Flores C, Alonso S, Eng C, Mak A, Hunstman S, et al. Identification of a novel locus associated with skin colour in African-admixed populations. Sci Rep. 2017;7:44548 pubmed publisher
    ..62?×?10-14, rs1426654) and SLC45A2 (minimum p?=?9...
  91. Haffner M, Esopi D, Chaux A, Gurel M, Ghosh S, Vaghasia A, et al. AIM1 is an actin-binding protein that suppresses cell migration and micrometastatic dissemination. Nat Commun. 2017;8:142 pubmed publisher
    ..Here we identify AIM1 (absent in melanoma 1) as an actin-binding protein that suppresses pro-invasive properties in benign prostate ..
  92. Navratilova V, Paloncýová M, Berka K, Mise S, Haga Y, Matsumura C, et al. Molecular insights into the role of a distal F240A mutation that alters CYP1A1 activity towards persistent organic pollutants. Biochim Biophys Acta Gen Subj. 2017;1861:2852-2860 pubmed publisher
    ..This calls for rational design of enzymes capable of catalyzing their biotransformation. Cytochrome P450 1A1 isoforms catalyze the biotransformation of some POPs, and constitute good starting points for the design of ..