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Erythrocyte membrane protein band 4. 2
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| Identifiers | ||
| Symbol(s) | EPB42; PA; MGC116735; MGC116737 | |
| External IDs | OMIM: 177070 MGI: 95402 HomoloGene: 93 | |
| RNA expression pattern | ||
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| Orthologs | ||
| Human | Mouse | |
| Entrez | 2038 | 13828 |
| Ensembl | ENSG00000166947 | ENSMUSG00000023216 |
| Uniprot | P16452 | Q3T9M7 |
| Refseq | NM_000119 (mRNA) NP_000110 (protein) |
NM_013513 (mRNA) NP_038541 (protein) |
| Location | Chr 15: 41.28 - 41.3 Mb | Chr 2: 120.71 - 120.73 Mb |
| Pubmed search | [1] | [2] |
Erythrocyte membrane protein band 4. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles 2, also known as EPB42, is a human gene. History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance [1]
Protein 4. 2 is a cytoskeleton protein found in red blood cells. cytoskeleton (also CSK is a cellular " Scaffolding " or " Skeleton " contained within the Cytoplasm. Proteins are large Organic compounds made of Amino acids arranged in a linear chain and joined together by Peptide bonds between the Carboxyl Red blood cells are the most common type of Blood cell and the Vertebrate body's principal means of delivering Oxygen to the body tissues via the Blood
Erythrocyte membrane protein band 4. 2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. [1]
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References
Further reading
- Falcón-Pérez JM, Dell'Angelica EC (2002). "The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis. ". Pigment Cell Res. 15 (2): 82–6. PMID 11936273.
- White RA, Peters LL, Adkison LR, et al. (1993). "The murine pallid mutation is a platelet storage pool disease associated with the protein 4. 2 (pallidin) gene. ". Nat. Genet. 2 (1): 80–3. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 1284644.
- Sung LA, Chien S, Fan YS, et al. (1992). "Human erythrocyte protein 4. 2: isoform expression, differential splicing, and chromosomal assignment. ". Blood 79 (10): 2763–70. PMID 1350227.
- Risinger MA, Dotimas EM, Cohen CM (1992). "Human erythrocyte protein 4. 2, a high copy number membrane protein, is N-myristylated. ". J. Biol. Chem. 267 (8): 5680–5. PMID 1544941.
- Bouhassira EE, Schwartz RS, Yawata Y, et al. (1992). "An alanine-to-threonine substitution in protein 4. 2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4. 2NIPPON). ". Blood 79 (7): 1846–54. PMID 1558976.
- Sung LA, Chien S, Chang LS, et al. (1990). "Molecular cloning of human protein 4. 2: a major component of the erythrocyte membrane. ". Proc. Natl. Acad. Sci. U. S. A. 87 (3): 955–9. PMID 1689063.
- Najfeld V, Ballard SG, Menninger J, et al. (1992). "The gene for human erythrocyte protein 4. 2 maps to chromosome 15q15. ". Am. J. Hum. Genet. 50 (1): 71–5. PMID 1729896.
- Low PS, Willardson BM, Mohandas N, et al. (1991). "Contribution of the band 3-ankyrin interaction to erythrocyte membrane mechanical stability. ". Blood 77 (7): 1581–6. PMID 1826225.
- Korsgren C, Cohen CM (1991). "Organization of the gene for human erythrocyte membrane protein 4. 2: structural similarities with the gene for the a subunit of factor XIII. ". Proc. Natl. Acad. Sci. U. S. A. 88 (11): 4840–4. PMID 2052563.
- Korsgren C, Lawler J, Lambert S, et al. (1990). "Complete amino acid sequence and homologies of human erythrocyte membrane protein band 4. 2. ". Proc. Natl. Acad. Sci. U. S. A. 87 (2): 613–7. PMID 2300550.
- Korsgren C, Cohen CM (1988). "Associations of human erythrocyte band 4. 2. Binding to ankyrin and to the cytoplasmic domain of band 3. ". J. Biol. Chem. 263 (21): 10212–8. PMID 2968981.
- Tanimoto T, Hoshijima M, Kawata M, et al. (1988). "Binding of ras p21 to bands 4. 2 and 6 of human erythrocyte membranes. ". FEBS Lett. 226 (2): 291–6. PMID 3276554.
- Rybicki AC, Musto S, Schwartz RS (1995). "Identification of a band-3 binding site near the N-terminus of erythrocyte membrane protein 4. 2. ". Biochem. J. 309 ( Pt 2): 677–81. PMID 7626035.
- Hayette S, Morle L, Bozon M, et al. (1995). "A point mutation in the protein 4. 2 gene (allele 4. 2 Tozeur) associated with hereditary haemolytic anaemia. ". Br. J. Haematol. 89 (4): 762–70. PMID 7772513.
- Hayette S, Dhermy D, dos Santos ME, et al. (1995). "A deletional frameshift mutation in protein 4. 2 gene (allele 4. 2 Lisboa) associated with hereditary hemolytic anemia. ". Blood 85 (1): 250–6. PMID 7803799.
- Takaoka Y, Ideguchi H, Matsuda M, et al. (1995). "A novel mutation in the erythrocyte protein 4. 2 gene of Japanese patients with hereditary spherocytosis (protein 4. 2 Fukuoka). ". Br. J. Haematol. 88 (3): 527–33. PMID 7819064.
- Das AK, Bhattacharya R, Kundu M, et al. (1994). "Human erythrocyte membrane protein 4. 2 is palmitoylated. ". Eur. J. Biochem. 224 (2): 575–80. PMID 7925374.
- Dotimas E, Speicher DW, GuptaRoy B, Cohen CM (1993). "Structural domain mapping and phosphorylation of human erythrocyte pallidin (band 4. 2). ". Biochim. Biophys. Acta 1148 (1): 19–29. PMID 8499466.
- Azim AC, Marfatia SM, Korsgren C, et al. (1996). "Human erythrocyte dematin and protein 4. 2 (pallidin) are ATP binding proteins. ". Biochemistry 35 (9): 3001–6. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 8608138.
- Bhattacharyya R, Das AK, Moitra PK, et al. (1999). "Mapping of a palmitoylatable band 3-binding domain of human erythrocyte membrane protein 4. 2. ". Biochem. J. 340 ( Pt 2): 505–12. PMID 10333496.
See also
External links
Hereditary elliptocytosis is a blood disorder in which a large proportion of the sufferer's Erythrocytes (i Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and booksDapyx Software network: MP3 Explorer | Ebook Manager | Zenithic