ATP1A4 (original) (raw)

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Protein-coding gene in the species Homo sapiens

ATP1A4
Identifiers
Aliases	ATP1A4, ATP1A1, ATP1AL2, ATPase Na+/K+ transporting subunit alpha 4
External IDs	OMIM: 607321; MGI: 1351335; HomoloGene: 113769; GeneCards: ATP1A4; OMA:ATP1A4 - orthologs
Gene location (Human)Chr.Chromosome 1 (human)[1]Band1q23.2Start160,151,586 bp[1]End160,186,980 bp[1]
Gene location (Mouse)Chr.Chromosome 1 (mouse)[2]Band1 H3|1 79.54 cMStart172,051,080 bp[2]End172,085,981 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inleft testisright testistesticlespermseminal vesiculagastrocnemius muscleurinary bladdermuscle of thighgonadlymph nodeTop expressed inseminiferous tubulespermatidspermatocyteembryozygotemuscle of thighskeletal muscle tissuesubcutaneous adipose tissuewhite adipose tissuetemporal muscleMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function nucleotide binding P-type sodium:potassium-exchanging transporter activity metal ion binding hydrolase activity ATP binding P-type potassium transmembrane transporter activity Cellular component integral component of membrane membrane plasma membrane integral component of plasma membrane sodium:potassium-exchanging ATPase complex Biological process flagellated sperm motility establishment or maintenance of transmembrane electrochemical gradient sodium ion transport regulation of membrane potential ion transport potassium ion transport regulation of cellular pH spermatogenesis fertilization cellular sodium ion homeostasis cellular potassium ion homeostasis sodium ion export across plasma membrane potassium ion import across plasma membrane ion transmembrane transport regulation of cardiac conduction Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez48027222EnsemblENSG00000132681ENSMUSG00000007107UniProtQ13733Q9WV27RefSeq (mRNA)NM_001001734NM_144699NM_013734RefSeq (protein)NP_001001734NP_653300NP_038762Location (UCSC)Chr 1: 160.15 – 160.19 MbChr 1: 172.05 – 172.09 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium/potassium-transporting ATPase subunit alpha-4 is an enzyme that in humans is encoded by the ATP1A4 gene.[5][6][7]

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified.[7]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000132681 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007107 – Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Buetow KH, Nishimura D, Nakamura Y, Jiang O, Murray JC (May 1991). "A detailed multipoint gene map of chromosome 1q". Genomics. 8 (1): 13–21. doi:10.1016/0888-7543(90)90220-O. PMID 1981991.
6. ^ Shull MM, Lingrel JB (Jul 1987). "Multiple genes encode the human Na+,K+-ATPase catalytic subunit". Proc Natl Acad Sci U S A. 84 (12): 4039–43. Bibcode:1987PNAS...84.4039S. doi:10.1073/pnas.84.12.4039. PMC 305017. PMID 3035563.
7. ^ a b "Entrez Gene: ATP1A4 ATPase, Na+/K+ transporting, alpha 4 polypeptide".

• Human ATP1A1 genome location and ATP1A1 gene details page in the UCSC Genome Browser.

• Human ATP1A4 genome location and ATP1A4 gene details page in the UCSC Genome Browser.

• Lingrel JB, Orlowski J, Shull MM, Price EM (1990). "Molecular genetics of Na, K-ATPase". Prog. Nucleic Acid Res. Mol. Biol. Progress in Nucleic Acid Research and Molecular Biology. 38: 37–89. doi:10.1016/S0079-6603(08)60708-4. ISBN 978-0-12-540038-1. PMID 2158121.

• Sverdlov ED, Broude NE, Sverdlov VE, et al. (1987). "Family of Na+,K+-ATPase genes. Intra-individual tissue-specific restriction fragment length polymorphism". FEBS Lett. 221 (1): 129–33. doi:10.1016/0014-5793(87)80366-6. PMID 2887455.

• Sverdlov ED, Monastyrskaya GS, Broude NE, et al. (1987). "The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit". FEBS Lett. 217 (2): 275–8. doi:10.1016/0014-5793(87)80677-4. PMID 3036582.

• Shamraj OI, Lingrel JB (1995). "A putative fourth Na+,K(+)-ATPase alpha-subunit gene is expressed in testis". Proc. Natl. Acad. Sci. U.S.A. 91 (26): 12952–6. doi:10.1073/pnas.91.26.12952. PMC 45558. PMID 7809153.

• Woo AL, James PF, Lingrel JB (1999). "Characterization of the fourth alpha isoform of the Na, K-ATPase". J. Membr. Biol. 169 (1): 39–44. doi:10.1007/PL00005899. PMID 10227850. S2CID 838189.

• Woo AL, James PF, Lingrel JB (2000). "Sperm motility is dependent on a unique isoform of the Na, K-ATPase". J. Biol. Chem. 275 (27): 20693–9. doi:10.1074/jbc.M002323200. PMID 10764792.

• Woo AL, James PF, Lingrel JB (2003). "Roles of the Na, K-ATPase alpha4 isoform and the Na+/H+ exchanger in sperm motility". Mol. Reprod. Dev. 62 (3): 348–56. doi:10.1002/mrd.90002. PMID 12112599. S2CID 84176157.

• Keryanov S, Gardner KL (2002). "Physical mapping and characterization of the human Na, K-ATPase isoform, ATP1A4". Gene. 292 (1–2): 151–66. doi:10.1016/S0378-1119(02)00647-9. PMID 12119109.

• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

• Lingrel J, Moseley A, Dostanic I, et al. (2003). "Functional roles of the alpha isoforms of the Na, K-ATPase". Ann. N. Y. Acad. Sci. 986 (1): 354–9. Bibcode:2003NYASA.986..354L. doi:10.1111/j.1749-6632.2003.tb07214.x. PMID 12763850. S2CID 81201599.

• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.

• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.

• Hlivko JT, Chakraborty S, Hlivko TJ, et al. (2006). "The human Na, K-ATPase alpha 4 isoform is an ouabain-sensitive alpha isoform that is expressed in sperm". Mol. Reprod. Dev. 73 (1): 101–15. doi:10.1002/mrd.20383. PMID 16175638. S2CID 24972193.

• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.

• Rodova M, Nguyen AN, Blanco G (2006). "The transcription factor CREMtau and cAMP regulate promoter activity of the Na, K-ATPase alpha4 isoform". Mol. Reprod. Dev. 73 (11): 1435–47. doi:10.1002/mrd.20518. PMID 16894555. S2CID 85128131.