2025-05-09 18:46:39, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_003945 894 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 (ATP6V0E1), mRNA. ACCESSION NM_003945 VERSION NM_003945.3 GI:50593534 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 894) AUTHORS Lu,M., Ammar,D., Ives,H., Albrecht,F. and Gluck,S.L. TITLE Physical interaction between aldolase and vacuolar H+-ATPase is essential for the assembly and activity of the proton pump JOURNAL J. Biol. Chem. 282 (34), 24495-24503 (2007) PUBMED 17576770 REMARK GeneRIF: there is an important role for physical association between aldolase and the A, B and E subunits of V-ATPase in the regulation of the proton pump REFERENCE 2 (bases 1 to 894) AUTHORS Adachi,K., Oiwa,K., Nishizaka,T., Furuike,S., Noji,H., Itoh,H., Yoshida,M. and Kinosita,K. Jr. TITLE Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation JOURNAL Cell 130 (2), 309-321 (2007) PUBMED 17662945 REFERENCE 3 (bases 1 to 894) AUTHORS Blake-Palmer,K.G., Su,Y., Smith,A.N. and Karet,F.E. TITLE Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump component JOURNAL Gene 393 (1-2), 94-100 (2007) PUBMED 17350184 REFERENCE 4 (bases 1 to 894) AUTHORS Wang,H.L., Zhu,Z.M., Yerle,M., Wu,X., Wang,H., Yang,S.L. and Li,K. TITLE Full-length coding sequences and mapping of porcine ATP6VOE and ATP5G1 genes JOURNAL Cytogenet. Genome Res. 109 (4), 533 (2005) PUBMED 15906478 REFERENCE 5 (bases 1 to 894) AUTHORS Sambade,M. and Kane,P.M. TITLE The yeast vacuolar proton-translocating ATPase contains a subunit homologous to the Manduca sexta and bovine e subunits that is essential for function JOURNAL J. Biol. Chem. 279 (17), 17361-17365 (2004) PUBMED 14970230 REFERENCE 6 (bases 1 to 894) AUTHORS Nelson,N. and Harvey,W.R. TITLE Vacuolar and plasma membrane proton-adenosinetriphosphatases JOURNAL Physiol. Rev. 79 (2), 361-385 (1999) PUBMED 10221984 REMARK Review article REFERENCE 7 (bases 1 to 894) AUTHORS Ludwig,J., Kerscher,S., Brandt,U., Pfeiffer,K., Getlawi,F., Apps,D.K. and Schagger,H. TITLE Identification and characterization of a novel 9.2-kDa membrane sector-associated protein of vacuolar proton-ATPase from chromaffin granules JOURNAL J. Biol. Chem. 273 (18), 10939-10947 (1998) PUBMED 9556572 REFERENCE 8 (bases 1 to 894) AUTHORS Finbow,M.E. and Harrison,M.A. TITLE The vacuolar H+-ATPase: a universal proton pump of eukaryotes JOURNAL Biochem. J. 324 (PT 3), 697-712 (1997) PUBMED 9210392 REMARK Review article REFERENCE 9 (bases 1 to 894) AUTHORS Stevens,T.H. and Forgac,M. TITLE Structure, function and regulation of the vacuolar (H+)-ATPase JOURNAL Annu. Rev. Cell Dev. Biol. 13, 779-808 (1997) PUBMED 9442887 REMARK Review article REFERENCE 10 (bases 1 to 894) AUTHORS Dautry-Varsat,A. TITLE Receptor-mediated endocytosis: the intracellular journey of transferrin and its receptor JOURNAL Biochimie 68 (3), 375-381 (1986) PUBMED 2874839 REMARK Review article COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BF691381.1, Y15286.1 and AI198465.1. On Jul 26, 2004 this sequence version replaced gi:19913435. Summary: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BI763465.1, BG623204.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-39 BF691381.1 1-39 40-875 Y15286.1 1-836 876-894 AI198465.1 1-19 c FEATURES Location/Qualifiers source 1..894 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="5" /map="5q35.1" gene 1..894 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /note="ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1" /db_xref="GeneID:8992" /db_xref="HGNC:863" /db_xref="HPRD:04894" /db_xref="MIM:603931" exon 1..205 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /inference="alignment:Splign:1.39.8" variation 26 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="g" /db_xref="dbSNP:2302956" misc_feature 63..65 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /note="upstream in-frame stop codon" variation 69 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="g" /replace="t" /db_xref="dbSNP:201017640" variation 77 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="c" /db_xref="dbSNP:200271343" variation 79 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:580437" variation 81 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:374943687" CDS 102..347 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /EC_number="3.6.3.14" /note="vacuolar ATP synthase subunit H; V-ATPase H subunit; vacuolar proton pump H subunit; V-ATPase M9.2 subunit; V-ATPase 9.2 kDa membrane accessory protein; H(+)-transporting two-sector ATPase, subunit H; vacuolar proton-ATPase subunit M9.2; V-ATPase subunit e 1; vacuolar proton pump subunit e 1" /codon_start=1 /product="V-type proton ATPase subunit e 1" /protein_id="NP_003936.1" /db_xref="GI:4502319" /db_xref="CCDS:CCDS4383.1" /db_xref="GeneID:8992" /db_xref="HGNC:863" /db_xref="HPRD:04894" /db_xref="MIM:603931" /translation="
MAYHGLTVPLIVMSVFWGFVGFLVPWFIPKGPNRGVIITMLVTCSVCCYLFWLIAILAQLNPLFGPQLKNETIWYLKYHWP
" misc_feature 123..317 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /note="ATP synthase subunit H; Region: ATP_synt_H; pfam05493" /db_xref="CDD:147590" misc_feature 123..185 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O15342.2); transmembrane region" misc_feature 207..269 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O15342.2); transmembrane region" variation 125 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="t" /db_xref="dbSNP:35000513" variation 156 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="g" /replace="t" /db_xref="dbSNP:370754384" variation 159 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="g" /replace="t" /db_xref="dbSNP:199759060" variation 161 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="t" /db_xref="dbSNP:367681823" variation 171 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:201460422" variation 195 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="t" /db_xref="dbSNP:370904068" exon 206..253 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /inference="alignment:Splign:1.39.8" variation 247 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:372332112" variation 249 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="g" /db_xref="dbSNP:207466625" exon 254..383 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /inference="alignment:Splign:1.39.8" variation 267 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:151242113" variation 284 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="t" /db_xref="dbSNP:140462911" variation 312 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:11539177" variation 334 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:147105290" variation 349 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:111415356" variation 354 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:78825938" variation 373 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="t" /db_xref="dbSNP:367719776" variation 376 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="t" /db_xref="dbSNP:370117916" exon 384..882 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /inference="alignment:Splign:1.39.8" variation 425 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:11539179" variation 481 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:11539180" variation 501 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="t" /db_xref="dbSNP:11539178" STS 509..684 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /standard_name="G61995" /db_xref="UniSTS:139214" variation 554 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="t" /db_xref="dbSNP:146948215" variation 555 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:73806203" variation 593 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="g" /replace="t" /db_xref="dbSNP:13017" variation 597 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:11934" variation 613 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="t" /db_xref="dbSNP:189654022" STS 618..800 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /standard_name="STS-H56007" /db_xref="UniSTS:49353" variation 641 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:138021157" variation 680 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="t" /db_xref="dbSNP:142120765" variation 740 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="c" /db_xref="dbSNP:1062990" variation 745 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="t" /db_xref="dbSNP:1062989" variation 746 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="g" /replace="t" /db_xref="dbSNP:114419174" variation 759 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="g" /replace="t" /db_xref="dbSNP:11539172" variation 788..789 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="t" /db_xref="dbSNP:11539166" variation 799 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:15179" variation 801 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="t" /db_xref="dbSNP:150151566" variation 817..818 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:11539171" variation 817 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:15182" variation 823 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:11539173" variation 834 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="t" /db_xref="dbSNP:15180" variation 847 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="g" /db_xref="dbSNP:181211141" polyA_signal 849..854 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" variation 866 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:4849" variation 873 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1139927" variation 875 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /replace="a" /replace="c" /db_xref="dbSNP:60728179" polyA_site 882 /gene="ATP6V0E1" /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p" /experiment="experimental evidence, no additional details recorded" ORIGIN
aggcggggcttgcacacgctggtcacgcggtcagctattgacacttcctggtgggatccgagtgaggcgacggggtaggggttggcgctcaggcggcgaccatggcgtatcacggcctcactgtgcctctcattgtgatgagcgtgttctggggcttcgtcggcttcttggtgccttggttcatccctaagggtcctaaccggggagttatcattaccatgttggtgacctgttcagtttgctgctatctcttttggctgattgcaattctggcccaactcaaccctctctttggaccgcaattgaaaaatgaaaccatctggtatctgaagtatcattggccttgaggaagaagacatgctctacagtgctcagtctttgaggtcacgagaagagaatgccttctagatgcaaaatcacctccaaaccagaccacttttcttgacttgcctgttttggccattagctgccttaaacgttaacagcacatttgaatgccttattctacaatgcagcgtgttttcctttgccttttttgcactttggtgaattacgtgcctccataacctgaactgtgccgactccacaaaacgattatgtactcttctgagatagaagatgctgttcttctgagagatacgttactctctccttggaatctgtggatttgaagatggctcctgccttctcacgtgggaatcagtgaagtgtttagaaactgctgcaagacaaacaagactccagtggggtggtcagtaggagagcacgttcagagggaagagccatctcaacagaatcgcaccaaactatactttcaggatgaatttcttctttctgccatcttttggaataaatattttcctcctttctatggaaatctggaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:8992 -> Molecular function: GO:0005215 [transporter activity] evidence: NAS GeneID:8992 -> Molecular function: GO:0042625 [ATPase activity, coupled to transmembrane movement of ions] evidence: ISS GeneID:8992 -> Molecular function: GO:0046961 [proton-transporting ATPase activity, rotational mechanism] evidence: TAS GeneID:8992 -> Biological process: GO:0006879 [cellular iron ion homeostasis] evidence: TAS GeneID:8992 -> Biological process: GO:0007035 [vacuolar acidification] evidence: ISS GeneID:8992 -> Biological process: GO:0008286 [insulin receptor signaling pathway] evidence: TAS GeneID:8992 -> Biological process: GO:0015991 [ATP hydrolysis coupled proton transport] evidence: IEA GeneID:8992 -> Biological process: GO:0015992 [proton transport] evidence: TAS GeneID:8992 -> Biological process: GO:0016049 [cell growth] evidence: IGI GeneID:8992 -> Biological process: GO:0033572 [transferrin transport] evidence: TAS GeneID:8992 -> Biological process: GO:0043200 [response to amino acid stimulus] evidence: IEA GeneID:8992 -> Biological process: GO:0051701 [interaction with host] evidence: TAS GeneID:8992 -> Biological process: GO:0055085 [transmembrane transport] evidence: TAS GeneID:8992 -> Biological process: GO:0090382 [phagosome maturation] evidence: TAS GeneID:8992 -> Cellular component: GO:0010008 [endosome membrane] evidence: TAS GeneID:8992 -> Cellular component: GO:0016020 [membrane] evidence: TAS GeneID:8992 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA GeneID:8992 -> Cellular component: GO:0030670 [phagocytic vesicle membrane] evidence: TAS GeneID:8992 -> Cellular component: GO:0033179 [proton-transporting V-type ATPase, V0 domain] evidence: IEA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_003936 -> EC 3.6.3.14
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@meso_cacase at
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