Experts and Doctors on amino acid sequence homology in Philadelphia, Pennsylvania, United States


Locale: Philadelphia, Pennsylvania, United States
Topic: amino acid sequence homology

Top Publications

  1. Zhang R, Zou Y, Pan T, Markova D, Fertala A, Hu Y, et al. Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. J Biol Chem. 2010;285:10005-15 pubmed publisher
    ..Together, the results suggest that the C2a splice variant may functionally compensate for the loss of the normal COL6A2 chain when mutations occur in the C2 subdomain. ..
  2. Brailoiu E, Hooper R, Cai X, Brailoiu G, Keebler M, Dun N, et al. An ancestral deuterostome family of two-pore channels mediates nicotinic acid adenine dinucleotide phosphate-dependent calcium release from acidic organelles. J Biol Chem. 2010;285:2897-901 pubmed publisher
    ..Our data highlight the functional divergence of this novel gene family during deuterostome evolution and provide further evidence that NAADP mediates calcium release from acidic stores through activation of TPCs...
  3. Zhang R, Sabatelli P, Pan T, Squarzoni S, Mattioli E, Bertini E, et al. Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. J Biol Chem. 2002;277:43557-64 pubmed
    ..The almost complete absence of abnormal protein and near-normal accumulation of microfibrils in the parents may account for their lack of myopathic symptoms. ..
  4. Laverriere A, MacNeill C, Mueller C, Poelmann R, Burch J, Evans T. GATA-4/5/6, a subfamily of three transcription factors transcribed in developing heart and gut. J Biol Chem. 1994;269:23177-84 pubmed
    ..These studies thus provide novel insights into tissue-specific regulation by GATA-5, as well as into possibly overlapping regulatory functions for these three family members. ..
  5. Lu Z, Klem A, Ramu Y. Ion conduction pore is conserved among potassium channels. Nature. 2001;413:809-13 pubmed
    ..The resulting chimaeras retain the respective functional hallmarks of the eukaryotic channels, which indicates that the ion conduction pore is indeed conserved among K+ channels. ..
  6. Ishii H, Baffa R, Numata S, Murakumo Y, Rattan S, Inoue H, et al. The FEZ1 gene at chromosome 8p22 encodes a leucine-zipper protein, and its expression is altered in multiple human tumors. Proc Natl Acad Sci U S A. 1999;96:3928-33 pubmed
    ..Transcript analysis from several FEZ1-expressing tumors revealed truncated mRNAs, including a frameshift. Alteration and inactivation of the FEZ1 gene may play a role in various human tumors. ..
  7. Deardorff M, Tan C, Conrad L, Klein P. Frizzled-8 is expressed in the Spemann organizer and plays a role in early morphogenesis. Development. 1998;125:2687-700 pubmed
    ..Our results suggest a role for xfz8 in morphogenesis during the gastrula stage of embryogenesis. ..
  8. Brooker D, Kozak C, Kleyman T. Epithelial sodium channel genes Scnn1b and Scnn1g are closely linked on distal mouse chromosome 7. Genomics. 1995;29:784-6 pubmed
    ..Scnn1b and Scnn1g were determined to be closely linked on distal mouse chromosome 7, showing no recombination with Zp2, whereas the gene for the alpha-subunit, Scnn1a, was confirmed to map to distal mouse chromosome 6. ..
  9. Fernandes Alnemri T, Armstrong R, Krebs J, Srinivasula S, Wang L, Bullrich F, et al. In vitro activation of CPP32 and Mch3 by Mch4, a novel human apoptotic cysteine protease containing two FADD-like domains. Proc Natl Acad Sci U S A. 1996;93:7464-9 pubmed
    ..The presence of the FADD-like domains in Mch4 and Mch5 suggests a role for these proteases in the Fas-apoptotic pathway. In addition, these proteases could participate in the granzyme B apoptotic pathways. ..

More Information


  1. Yu J, Hederstedt L, Piggot P. The cytochrome bc complex (menaquinone:cytochrome c reductase) in Bacillus subtilis has a nontraditional subunit organization. J Bacteriol. 1995;177:6751-60 pubmed
    ..As bacteria move from the transition state into sporulation, transcription of the operon is reduced in a sigma F-dependent manner. ..
  2. Ramanathan M, Curley E, Su M, Chambers J, Weiner D. Carboxyl terminus of hVIP/mov34 is critical for HIV-1-Vpr interaction and glucocorticoid-mediated signaling. J Biol Chem. 2002;277:47854-60 pubmed
    ..These results support the view that hVIP is a member of the complex array of nucleocytoplasmic shuttling proteins that are regulated by HIV infection and glucocorticoids. ..
  3. Grosser T, Yusuff S, Cheskis E, Pack M, Fitzgerald G. Developmental expression of functional cyclooxygenases in zebrafish. Proc Natl Acad Sci U S A. 2002;99:8418-23 pubmed
    ..Both zCOX isoforms are genetically and functionally homologous to their mammalian orthologs. The zebrafish affords a tractable model system for the study of COX biology and development. ..
  4. Milne R, Connolly S, Krummenacher C, Eisenberg R, Cohen G. Porcine HveC, a member of the highly conserved HveC/nectin 1 family, is a functional alphaherpesvirus receptor. Virology. 2001;281:315-28 pubmed
    ..Porcine HveC is functionally indistinguishable from human HveC. Our results are consistent with the suggestion that HveC is a pan-alphaherpesvirus receptor that interacts with a conserved structural domain of gD. ..
  5. Kataoka N, Yong J, Kim V, Velazquez F, Perkinson R, Wang F, et al. Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm. Mol Cell. 2000;6:673-82 pubmed
    ..These findings suggest that pre-mRNA splicing imprints mRNA with a unique set of proteins that persists in the cytoplasm and thereby communicates the history of the transcript. ..
  6. Srinivasula S, Ahmad M, Ottilie S, Bullrich F, Banks S, Wang Y, et al. FLAME-1, a novel FADD-like anti-apoptotic molecule that regulates Fas/TNFR1-induced apoptosis. J Biol Chem. 1997;272:18542-5 pubmed
    ..These findings identify a novel endogenous control point that regulates Fas/TNFR1-mediated apoptosis. ..
  7. Mallee J, Parella T, Kwon H, Berry G. Multiple comparison of primary structure of the osmoregulatory Na+/myo-inositol cotransporter from bovine, human, and canine species. Mamm Genome. 1996;7:252 pubmed
  8. Kiledjian M, Wang X, Liebhaber S. Identification of two KH domain proteins in the alpha-globin mRNP stability complex. EMBO J. 1995;14:4357-64 pubmed
    ..As such this represents the first example of a specific function for this class of proteins and suggests potential roles for other members of this protein family. ..
  9. Karabay A, Yu W, Solowska J, Baird D, Baas P. Axonal growth is sensitive to the levels of katanin, a protein that severs microtubules. J Neurosci. 2004;24:5778-88 pubmed
    ..Other neurons are relatively unaffected by overexpression. Collectively, these observations indicate that axonal growth is sensitive to the levels of P60-katanin, but that other factors contribute to modulating this sensitivity. ..
  10. Cohen C, Xiang Z, Gao G, Ertl H, Wilson J, Bergelson J. Chimpanzee adenovirus CV-68 adapted as a gene delivery vector interacts with the coxsackievirus and adenovirus receptor. J Gen Virol. 2002;83:151-5 pubmed
    ..These results indicate that gene delivery by C68 occurs by a CAR-dependent mechanism...
  11. Schultz D, Friedman J, Rauscher F. Targeting histone deacetylase complexes via KRAB-zinc finger proteins: the PHD and bromodomains of KAP-1 form a cooperative unit that recruits a novel isoform of the Mi-2alpha subunit of NuRD. Genes Dev. 2001;15:428-43 pubmed
    ..These data suggest the KRAB-ZFP superfamily of repressors functions to target the histone deacetylase and chromatin remodeling activities of the NuRD complex to specific gene promoters in vivo. ..
  12. Johnson E, Gupta A. An E3-like factor that promotes SUMO conjugation to the yeast septins. Cell. 2001;106:735-44 pubmed
    ..Our results suggest that this family functions by promoting SUMO conjugation to specific substrates. ..
  13. Wang L, Oriol Sunyer J, Bello L. Immunogenicity of a bovine viral diarrhea virus E2-C3d fusion protein containing a bovine homolog of C3d. Dev Comp Immunol. 2005;29:907-15 pubmed
    ..The ability of boC3d to function in mice provides a less costly and more convenient animal model than cattle for the preliminary evaluation of E2-boC3d and other bovine antigen-boC3d fusion proteins. ..
  14. Liu A, Desai B, Stoffers D. Identification of PCIF1, a POZ domain protein that inhibits PDX-1 (MODY4) transcriptional activity. Mol Cell Biol. 2004;24:4372-83 pubmed
    ..The coexpression of PCIF1 with PDX-1 in beta cells and the ability of PCIF1 to repress PDX-1 transactivation suggest that modulation of PDX-1 function by PCIF1 may regulate normal beta cell differentiation. ..
  15. McDonald E, El Deiry W. Suppression of caspase-8- and -10-associated RING proteins results in sensitization to death ligands and inhibition of tumor cell growth. Proc Natl Acad Sci U S A. 2004;101:6170-5 pubmed
    ..Long-term inhibition of CARP expression results in suppression of cancer cell growth, highlighting their importance in tumor cell survival. ..
  16. Makeyev A, Liebhaber S. The poly(C)-binding proteins: a multiplicity of functions and a search for mechanisms. RNA. 2002;8:265-78 pubmed
    ..Clearly the identification of additional binding targets and delineation of corresponding control mechanisms and effector pathways will establish highly informative models for further exploration. ..
  17. Shan X, Dunbrack R, Christopher S, Kruger W. Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis. Hum Mol Genet. 2001;10:635-43 pubmed
    ..Our results indicate that subtle changes to the C-terminus of CBS can restore activity to mutant proteins and provide a rationale for screening for compounds that can activate mutant CBS alleles...
  18. Zhang Y, Gould K, Dunbrack RL J, Cheng H, Roder H, Golemis E. The evolutionarily conserved Dim1 protein defines a novel branch of the thioredoxin fold superfamily. Physiol Genomics. 1999;1:109-18 pubmed
    ..In sum, this study identifies the Dim1 proteins as a novel sixth branch of the thioredoxin superfamily involved in cell cycle...
  19. Whalen M, Piggot P. Gain-of-function mutation of sapB that affects formation of alkaline phosphatase by Bacillus subtilis in sporulation conditions. Microbiology. 1997;143 ( Pt 2):577-83 pubmed
    ..This mutation apparently results in a gain-of-function, as sapB null mutants are indistinguishable from sap+ strains in terms of their APase production during sporulation. ..
  20. Myllykallio H, Zannoni D, Daldal F. The membrane-attached electron carrier cytochrome cy from Rhodobacter sphaeroides is functional in respiratory but not in photosynthetic electron transfer. Proc Natl Acad Sci U S A. 1999;96:4348-53 pubmed
    ..raise an intriguing evolutionary issue in regard to cellular apoptosis: why do the mitochondria of higher organisms, unlike their bacterial ancestors, use only one soluble electron carrier in their respiratory electron-transport chains?..
  21. Wilson R, Roof D. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet. 1997;16:352-7 pubmed
    ..Our data suggest that mitochondrial dysfunction contributes to FRDA pathophysiology. ..
  22. Mettus R, Litvin J, Wali A, Toscani A, Latham K, Hatton K, et al. Murine A-myb: evidence for differential splicing and tissue-specific expression. Oncogene. 1994;9:3077-86 pubmed
    ..This pattern of expression suggests that A-myb is involved in the control of proliferation and differentiation of spermatogonia. This potential function of A-myb in spermatogenesis is reminiscent of the role of c-myb in hematopoiesis. ..
  23. Venturelli D, Martinez R, Melotti P, Casella I, Peschle C, Cucco C, et al. Overexpression of DR-nm23, a protein encoded by a member of the nm23 gene family, inhibits granulocyte differentiation and induces apoptosis in 32Dc13 myeloid cells. Proc Natl Acad Sci U S A. 1995;92:7435-9 pubmed
    ..These results are consistent with a role for DR-nm23 in normal hematopoiesis and raise the possibility that its overexpression contributes to differentiation arrest, a feature of blastic transformation in chronic myelogenous leukemia. ..
  24. Doyle G, Sheng X, Lin S, Press D, Grice D, Buono R, et al. Identification of five mouse mu-opioid receptor (MOR) gene (Oprm1) splice variants containing a newly identified alternatively spliced exon. Gene. 2007;395:98-107 pubmed
    ..These exon 19-containing splice variants add to the growing complexity of the mouse Oprm1 gene. ..
  25. Zimmerman J, Bui Q, Steingrimsson E, Nagle D, Fu W, Genin A, et al. Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene. Genome Res. 1997;7:128-41 pubmed
    ..Our findings support the notion that several families of genes (Pax-6/eyeless, Six-3/sine oculis, and Eya) play related and critical roles in the eye for both files and vertebrates. ..
  26. Stoller J, Epstein J. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Hum Mol Genet. 2005;14:885-92 pubmed
    ..By providing functional data to indicate loss-of-function produced by the 1223delC TBX1 mutation, our results provide strong support for the conclusion that TBX1 mutations can cause DGS in humans. ..
  27. Mazany K, Peng T, Watson C, Tabas I, Williams K. Human chondroitin 6-sulfotransferase: cloning, gene structure, and chromosomal localization. Biochim Biophys Acta. 1998;1407:92-7 pubmed
    ..The human C6ST gene structure has been elucidated and exhibits an intron-less coding region, and the gene has been mapped to human chromosome 11 by radiation hybrid panel mapping. ..
  28. Matsumoto Y. Molecular mechanism of PCNA-dependent base excision repair. Prog Nucleic Acid Res Mol Biol. 2001;68:129-38 pubmed
    ..Therefore, UNG2 and MYH may serve for replication-coupled base excision repair through the direct interaction with PCNA in the replication machinery. ..
  29. Li S, Zhu J, Chen C, Chen Y, DeRiel J, Ashby B, et al. Molecular cloning and expression of a rat kappa opioid receptor. Biochem J. 1993;295 ( Pt 3):629-33 pubmed
    ..Thus, RKOR-1 represents an opioid receptor with kappa characteristics. ..
  30. Mindnich R, Adamski J. Zebrafish 17beta-hydroxysteroid dehydrogenases: an evolutionary perspective. Mol Cell Endocrinol. 2009;301:20-6 pubmed publisher
    ..These findings reflect on two aspects: (1) the evolutionary origin of steroid-specific enzymes and (2) a possible conservation of steroid hormone function in invertebrates through currently unknown mechanisms. ..
  31. Meulener M, Graves C, Sampathu D, Armstrong Gold C, Bonini N, Giasson B. DJ-1 is present in a large molecular complex in human brain tissue and interacts with alpha-synuclein. J Neurochem. 2005;93:1524-32 pubmed
    ..Furthermore, our results provide further evidence for the interplay between neurodegenerative disease-associated proteins. ..
  32. Ishino T, Urbina C, Bhattacharya M, Panarello D, Chaiken I. Receptor epitope usage by an interleukin-5 mimetic peptide. J Biol Chem. 2005;280:22951-61 pubmed
    ..The fact that AF17121 mimics the receptor binding capability of IL5 but antagonizes biological function evokes several models for how IL5 induces activation of the multisubunit receptor system. ..
  33. Creasy C, Chernoff J. Cloning and characterization of a member of the MST subfamily of Ste20-like kinases. Gene. 1995;167:303-6 pubmed
    ..The identification of MST2 suggests that there may be subfamilies of Ste20-like protein kinases and that MST1 and MST2 may define one of these subfamilies. ..
  34. Numata S, Claudio P, Dean C, Giordano A, Croce C. Bdp, a new member of a family of DNA-binding proteins, associates with the retinoblastoma gene product. Cancer Res. 1999;59:3741-7 pubmed
    ..It also binds to the MAR of the immunoglobulin heavy-chain locus. Thus Bdp may contribute to the transcriptional regulation of genes involved in differentiation and tissue-specific expression. ..
  35. Nakamaru Ogiso E, Matsuno Yagi A, Yoshikawa S, Yagi T, Ohnishi T. Iron-sulfur cluster N5 is coordinated by an HXXXCXXCXXXXXC motif in the NuoG subunit of Escherichia coli NADH:quinone oxidoreductase (complex I). J Biol Chem. 2008;283:25979-87 pubmed publisher
    ..These data confirmed that, contrary to the misassignment claim, cluster N5 has a unique coordination with His(Cys)(3) ligands in NuoG. ..
  36. Eschenbrenner M, Jorns M. Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. Genomics. 1999;59:300-8 pubmed
    ..The availability of the SDH gene sequence will enable characterization of the genotypes of sarcosinemia patients with different phenotypes. ..
  37. Autieri M, Carbone C. 14-3-3Gamma interacts with and is phosphorylated by multiple protein kinase C isoforms in PDGF-stimulated human vascular smooth muscle cells. DNA Cell Biol. 1999;18:555-64 pubmed
    ..Thus, 14-3-3gamma may represent a signal transduction protein that is regulated transcriptionally and post-transcriptionally by growth factors. ..
  38. Kwok S, Dai G, McMurtry J. Molecular cloning and sequence analysis of the cDNA encoding porcine acrosin inhibitor. DNA Cell Biol. 1994;13:389-94 pubmed
    ..Southern blot analysis shows only a single hybridizing band with three different restriction endonucleases, suggesting the presence of a single copy of the acrosin inhibitor gene in the porcine genome. ..
  39. Sterne Marr R, Gurevich V, Goldsmith P, Bodine R, Sanders C, Donoso L, et al. Polypeptide variants of beta-arrestin and arrestin3. J Biol Chem. 1993;268:15640-8 pubmed
    ..These observations suggest that in some tissues, as many as four arrestin homolog variants may play a role in the regulation of G protein-coupled receptors. ..
  40. Lippa A, Goulian M. Feedback inhibition in the PhoQ/PhoP signaling system by a membrane peptide. PLoS Genet. 2009;5:e1000788 pubmed publisher
    ..This new regulator may function as a point of control that integrates additional input signals to modulate the activity of this important signaling system. ..
  41. Chai N, Bates P. Na+/H+ exchanger type 1 is a receptor for pathogenic subgroup J avian leukosis virus. Proc Natl Acad Sci U S A. 2006;103:5531-6 pubmed
    ..Furthermore, 293T cells expressing chNHE1 fused with 293T cells expressing EnvJ in a low-pH-dependent manner. Together, these data identify chNHE1 as a cellular receptor for the highly pathogenic ALV-J...
  42. Galili N, Davis R, Fredericks W, Mukhopadhyay S, Rauscher F, Emanuel B, et al. Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. Nat Genet. 1993;5:230-5 pubmed
    ..These findings indicate that the t(2;13) generates a potentially tumorigenic fusion transcription factor consisting of intact PAX3 DNA binding domains, a truncated fork head DNA binding domain and C-terminal FKHR regions...
  43. Hanakawa Y, Schechter N, Lin C, Garza L, Li H, Yamaguchi T, et al. Molecular mechanisms of blister formation in bullous impetigo and staphylococcal scalded skin syndrome. J Clin Invest. 2002;110:53-60 pubmed
    ..aureus to spread under the stratum corneum, the main barrier of the skin, explaining how, although they circulate through the entire body in SSSS, they cause pathology only in the superficial epidermis...
  44. Luo Y, Raible D, Raper J. Collapsin: a protein in brain that induces the collapse and paralysis of neuronal growth cones. Cell. 1993;75:217-27 pubmed
    ..Recombinant collapsin causes sensory ganglion growth cones to collapse but not retinal ganglion cell growth cones. We propose that collapsin could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. ..
  45. Chong J, Uren A, Rubin J, Speicher D. Disulfide bond assignments of secreted Frizzled-related protein-1 provide insights about Frizzled homology and netrin modules. J Biol Chem. 2002;277:5134-44 pubmed
    ..The major C-terminal processing event was removal of the terminal amino acid (Lys(313)) with only a trace amount of unprocessed protein detected. ..
  46. Hui Y, Yang G, Galczenski H, Figueroa D, Austin C, Copeland N, et al. The murine cysteinyl leukotriene 2 (CysLT2) receptor. cDNA and genomic cloning, alternative splicing, and in vitro characterization. J Biol Chem. 2001;276:47489-95 pubmed
    ..The identification of mCysLT(2)R will be useful for establishing CysLT(2)R-deficient mice and determining novel leukotriene functions. ..
  47. Shin M, Ogburn K, Varban O, Gilbert P, Burd C. FYVE domain targets Pib1p ubiquitin ligase to endosome and vacuolar membranes. J Biol Chem. 2001;276:41388-93 pubmed
    ..These results suggest that Pib1p mediates ubiquitination of a subset of cellular proteins localized to endosome and vacuolar membranes, and they expand the repertoire of PI3K-regulated pathways identified in eukaryotic cells. ..
  48. Niikura T, Hirata R, Weil S. A novel interferon-inducible gene expressed during myeloid differentiation. Blood Cells Mol Dis. 1997;23:337-49 pubmed
    ..On the other hand, it was expressed constitutively in untreated non-hematopoietic cell lines and mature hematopoietic cell lines. ..
  49. Prasad R, Leshkowitz D, Gu Y, Alder H, Nakamura T, Saito H, et al. Leucine-zipper dimerization motif encoded by the AF17 gene fused to ALL-1 (MLL) in acute leukemia. Proc Natl Acad Sci U S A. 1994;91:8107-11 pubmed
    ..In this model, the partner polypeptide plays an accessory role either by repressing activity of the truncated ALL-1 protein or by blocking the function of the normal protein presumably present in the leukemic cells. ..
  50. Lechner M, Begg G, Speicher D, Rauscher F. Molecular determinants for targeting heterochromatin protein 1-mediated gene silencing: direct chromoshadow domain-KAP-1 corepressor interaction is essential. Mol Cell Biol. 2000;20:6449-65 pubmed
    ..Together, these results strongly suggest that KAP-1 is a physiologically relevant target for HP1 function. ..
  51. Grana X, Claudio P, De Luca A, Sang N, Giordano A. PISSLRE, a human novel CDC2-related protein kinase. Oncogene. 1994;9:2097-103 pubmed
    ..PISSLRE is expressed in all human tissues tested, including those which contain high proportion of terminally differentiated cells. However, the levels of the PISSLRE transcripts are dissimilar among different tissues. ..
  52. Murthy S, Tosolini A, Taguchi T, Testa J. Mapping of AKT3, encoding a member of the Akt/protein kinase B family, to human and rodent chromosomes by fluorescence in situ hybridization. Cytogenet Cell Genet. 2000;88:38-40 pubmed
    ..We have also mapped the rodent homologs of AKT3 to rat chromosome 13q24-->q26 and mouse chromosome 1H4-6 by FISH. ..
  53. Takafuta T, Wu G, Murphy G, Shapiro S. Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha. J Biol Chem. 1998;273:17531-8 pubmed
    ..beta-Filamin is a new member of the filamin family that may have significance for GpIbalpha function in endothelial cells and platelets. ..