Genomes and Genes
Gene Symbol: Epb4.2
Description: erythrocyte protein band 4.2
Alias: Epb42, P4.2, erythrocyte membrane protein band 4.2, erythrocyte protein 4.2
- A band 3-based macrocomplex of integral and peripheral proteins in the RBC membraneLesley J Bruce
Department of Biochemistry, University of Bristol, United Kingom
Blood 101:4180-8. 2003..We speculate that this macrocomplex may function as an integrated CO(2)/O(2) gas exchange unit (metabolon) in the erythrocyte...
- The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) geneR A White
Division of Hematology Oncology, Children s Hospital, Boston, Massachusetts
Nat Genet 2:80-3. 1992..This is the first gene defect to be associated with a platelet storage pool deficiency, and may allow the identification of a novel structure or biological pathway that influences granulogenesis...
- Molecular cloning, characterization, and chromosomal localization of FKBP23, a novel FK506-binding protein with Ca2+-binding abilityT Nakamura
Faculty of Medicine, Kyoto University, Sakyo ku, Kyoto, 606, Japan
Genomics 54:89-98. 1998..FKBP23 mRNA is expressed most strongly in heart, lung, and testis, beginning at day 8.5 of embryonic development. The FKBP23 gene was mapped to mouse chromosome 2...
- Positional cloning and molecular characterization of an immunodominant cytotoxic determinant of the mouse H3 minor histocompatibility complexA R Zuberi
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
Immunity 9:687-98. 1998..A region of ZFP106 is identical to a 600-amino acid sequence implicated in the insulin receptor signaling pathway...
- Mild spherocytosis and altered red cell ion transport in protein 4. 2-null miceL L Peters
The Jackson Laboratory, Bar Harbor, Maine 04609, USA Department of Biomedical Research, St Elizabeth s Medical Center, Boston, Massachusetts 02135, USA
J Clin Invest 103:1527-37. 1999..The increased passive Na+ permeability of 4.2(-/-) RBCs is also dependent on cell shrinkage. We conclude that protein 4.2 is important in the maintenance of normal surface area in RBCs and for normal RBC cation transport...
- Induction of erythrocyte protein 4.2 gene expression during differentiation of murine erythroleukemia cellsB Karacay
Department of Pediatrics, Children s Hospital and The Ohio State University, Columbus, Ohio 43205 2696, USA
Genomics 59:6-17. 1999..Taken together, these results suggest that the erythroid transcription factor GATA-1 plays an important role in the induction of P4.2 gene expression during erythroid cell differentiation...
- Mga, a dual-specificity transcription factor that interacts with Max and contains a T-domain DNA-binding motifP J Hurlin
Division of Basic Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N, Seattle, WA 98109 1024, USA
EMBO J 18:7019-28. 1999..Our results suggest that Mga functions as a dual-specificity transcription factor that regulates the expression of both Max-network and T-box family target genes...
- The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiencyL Huang
Howard Hughes Medical Institute and Department of Medicine, University of California, San Francisco, California 94143 0794, USA
Nat Genet 23:329-32. 1999..Whereas the mocha and pearl SPD mutants have defects in Ap-3, our findings suggest that pa SPD mutants are defective in a more downstream event of vesicle-trafficking: namely, vesicle-docking and fusion...
- Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase ZP Grenard
Connective Tissue Biology Laboratories, School of Biosciences, Cardiff University, Cardiff CF10 3US, United Kingdom
J Biol Chem 276:33066-78. 2001..sequence analysis and mapping showed that this locus contained three transglutaminase genes arranged in tandem: EPB42 (band 4.2 protein), TGM5, and a novel gene (TGM7)...
- Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47Isabelle Mouro-Chanteloup
Institut National de la Santé et de la Recherche Médicale INSERM U76, Institut National de la Transfusion Sanguine, Paris, France
Blood 101:338-44. 2003..2(-) and Rh(null) red cells...
- Identification of a TAL1 target gene reveals a positive role for the LIM domain-binding protein Ldb1 in erythroid gene expression and differentiationZhixiong Xu
Department of Medicine, Vanderbilt University, Nashville, Tennessee 37232, USA
Mol Cell Biol 23:7585-99. 2003..2 and beta-globin mRNAs. These studies define a physiologic target for a TAL1- and GATA-1-containing ternary complex and reveal a positive role for Ldb1 in erythroid gene expression and differentiation...
- Evidence for a protective role of the Gardos channel against hemolysis in murine spherocytosisLucia De Franceschi
Department of Clinical and Experimental Medicine, Section of Internal Medicine, University of Verona, Italy
Blood 106:1454-9. 2005....
- Effect of complete protein 4.1R deficiency on ion transport properties of murine erythrocytesAlicia Rivera
Children s Hospital Boston, Dept of Laboratory Medicine, Harvard Medical School, Boston, MA 02115, USA
Am J Physiol Cell Physiol 291:C880-6. 2006..1 plays a major role in volume regulation and physiologically downregulates Na/H exchange in mouse erythrocytes. Upregulation of the Na/H exchange is an important contributor to the elevated cell Na content of 4.1(-/-) erythrocytes...
- Targeted deletion of alpha-adducin results in absent beta- and gamma-adducin, compensated hemolytic anemia, and lethal hydrocephalus in miceRaymond F Robledo
The Jackson Laboratory, Bar Harbor, ME, USA
Blood 112:4298-307. 2008..These data indicate that adducin plays a role in RBC membrane stability and in cerebrospinal fluid homeostasis...
- A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) geneN Chiannilkulchai
Genethon, Evry, France
Hum Mol Genet 4:717-25. 1995..They were characterized for their sequences, physical positions within the YAC contig, and expression patterns. Among those specifically transcribed in muscle, the calpain gene is a good positional and functional candidate for LGMD2A...
- Complete amino acid sequence and homologies of human erythrocyte membrane protein band 4.2C Korsgren
Department of Biomedical Research, St Elizabeth s Hospital, Boston, MA
Proc Natl Acad Sci U S A 87:613-7. 1990..Consistent with this active site substitution, erythrocyte membranes or inside-out vesicles, which contain band 4.2, show no evidence of transglutaminase activity by two types of in vitro assay...
- Multiplicity of chromosome 2 histocompatibility genes: new loci, H-44 and H-45R J Graff
Immunogenetics 26:111-4. 1987
- The murine erythrocyte protein-4.2-encoding gene: similarities and differences in structure and expression from its human counterpartB Karacay
Department of Pediatrics, Children s Hospital, Ohio State University, Columbus 43205, USA
Gene 158:253-6. 1995..2 RNA does not exhibit alternative splicing in the region identified in the human P4.2 RNA...
- Molecular cloning of human protein 4.2: a major component of the erythrocyte membraneL A Sung
Department of Applied Mechanics, University of California at San Diego, La Jolla 92093
Proc Natl Acad Sci U S A 87:955-9. 1990..Sequence alignment of P4.2 with these two transglutaminases, however, revealed that P4.2 lacks the critical cysteine residue required for the enzymatic crosslinking of substrates...
- Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosaM E McLaughlin
Howe Laboratory of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA
Proc Natl Acad Sci U S A 92:3249-53. 1995..Mutations in the gene encoding the beta subunit of rod phosphodiesterase are the most common identified cause of autosomal recessive retinitis pigmentosa, accounting for approximately 4% of cases in North America...
- Molecular cloning of mouse erythrocyte protein 4.2: a membrane protein with strong homology with the transglutaminase supergene familyA C Rybicki
Division of Hematology, Albert Einstein College of Medicine Montefiore Medical Center, Bronx, New York 10467
Mamm Genome 5:438-45. 1994..2 cDNA should help in the design of P4.2-deficient animal models (for example, ribozyme or homologous recombinant "knockout" models) that should accelerate the understanding of P4.2 function in both erythroid and non-erythroid cells...
- cDNA sequence, gene sequence, and properties of murine pallidin (band 4.2), the protein implicated in the murine pallid mutationC Korsgren
Department of Biomedical Research, St Elizabeth s Medical Center of Boston, Massachusetts 02135
Genomics 21:478-85. 1994..2 cDNA sequence containing an open reading frame of 2073 bp and coding for 691 amino acids. This is the same size as the human erythrocyte protein, with which the murine protein shares a 72% amino acid identity...
- The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallidB Gwynn
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
Genomics 42:532-5. 1997..2 mRNA. As the pa mutation originally arose in a wild M. domesticus mouse, we conclude that the Epb4.2 mRNA characteristic of pallid is a normal polymorphism derived from its wild ancestor and that Epb4.2 and pa are distinct loci...
- Developmental expression of mouse erythrocyte protein 4.2 mRNA: evidence for specific expression in erythroid cellsL Zhu
Department of Pediatrics, Children s Hospital, Ohio State University, Columbus 43205 2696, USA
Blood 91:695-705. 1998..These results provide the evidence for specific P4.2 expression in erythroid cells. In addition, the timing and pattern of expression of the P4.2 gene suggest the specific regulation of the P4.2 gene...
- The mouse and human genes encoding the recognition component of the N-end rule pathwayY T Kwon
Division of Biology, California Institute of Technology, Pasadena, CA 91125, USA
Proc Natl Acad Sci U S A 95:7898-903. 1998..The cloning of Ubr1 makes possible the construction of Ubr1-lacking mouse strains, a prerequisite for the functional understanding of the mammalian N-end rule pathway...
- Organization of the gene for human erythrocyte membrane protein 4.2: structural similarities with the gene for the a subunit of factor XIIIC Korsgren
Department of Biomedical Research, St Elizabeth s Hospital, Boston, MA 02135
Proc Natl Acad Sci U S A 88:4840-4. 1991..These and other similarities suggest that the gene for band 4.2 is closely related to and possibly derived from that for the a subunit of factor XIII and that the proteins may share common structural and functional properties...
- Expression screening of a yeast artificial chromosome contig refines the location of the mouse H3a minor histocompatibility antigen geneA R Zuberi
The Jackson Laboratory, Bar Harbor, ME 04609, USA
J Immunol 161:821-8. 1998..2, in close proximity to Capn3. These studies illustrate how genetic and genomic information can be exploited toward identifying genes encoding not only histocompatibility Ags, but also any autoantigen recognized by T cells...
- Ethanol-induced conditioned taste aversion in BXD recombinant inbred miceF O Risinger
Department of Behavioral Neuroscience and Portland Alcohol Research Center, Oregon Health Sciences University, 97201 3098, USA
Alcohol Clin Exp Res 22:1234-44. 1998..Some of these genes appear to influence taste sensitivity, whereas others appear to mediate sensitivity to aversive pharmacological effects of ethanol...
- FUNCTION OF A DUAL SPECIFICITY TRANSCRIPTION FACTORPeter Hurlin; Fiscal Year: 2003..Finally, gene targeting in the mouse will be used to study the biological activities of Mga and the individual roles of its bHLHZip domain and T-domain. ..
- CHANNEL-MEDIATED RBC DEHYDRATION IN SICKLE CELL DISEASEAlicia Rivera; Fiscal Year: 2003..It is additionally significant, because it will provide the means for the applicant to establish an independent research career and to become competitive for a tenure-track assistant professional position. ..
- Cytokines in Sickle Cell Volume RegulationAlicia Rivera; Fiscal Year: 2006..abstract_text> ..
- Myc Antagonism and Tumor Suppression by MntPeter Hurlin; Fiscal Year: 2008..abstract_text> ..