LOCUS       NM_003945               1419 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens ATPase H+ transporting V0 subunit e1 (ATP6V0E1), mRNA.
ACCESSION   NM_003945
VERSION     NM_003945.4
KEYWORDS    RefSeq; MANE Select.
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 1419)
  AUTHORS   Haugen,O.P., Khuu,C., Weidemann,H.M., Utheim,T.P. and
            Bergersen,L.H.
  TITLE     Transcriptomic and functional studies reveal miR-431-5p as a tumour
            suppressor in pancreatic ductal adenocarcinoma cells
  JOURNAL   Gene 822, 146346 (2022)
   PUBMED   35182679
  REMARK    GeneRIF: Transcriptomic and functional studies reveal miR-431-5p as
            a tumour suppressor in pancreatic ductal adenocarcinoma cells.
REFERENCE   2  (bases 1 to 1419)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1419)
  AUTHORS   Hohn,A., Sittig,A., Jung,T., Grimm,S. and Grune,T.
  TITLE     Lipofuscin is formed independently of macroautophagy and lysosomal
            activity in stress-induced prematurely senescent human fibroblasts
  JOURNAL   Free Radic Biol Med 53 (9), 1760-1769 (2012)
   PUBMED   22982048
REFERENCE   4  (bases 1 to 1419)
  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   5  (bases 1 to 1419)
  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   6  (bases 1 to 1419)
  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 1419)
  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 1419)
  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) (Pt 3), 697-712 (1997)
   PUBMED   9210392
  REMARK    Review article
REFERENCE   9  (bases 1 to 1419)
  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 1419)
  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,
            AI198465.1 and AC008429.6.
            
            On Nov 22, 2018 this sequence version replaced NM_003945.3.
            
            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 :: BG623204.1, SRR1803611.69943.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000519374.6/ ENSP00000429690.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                BF691381.1         12-39
            29-864              Y15286.1           1-836
            865-871             AI198465.1         13-19               c
            872-1419            AC008429.6         148536-149083
FEATURES             Location/Qualifiers
     source          1..1419
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     gene            1..1419
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
                     /note="ATPase H+ transporting V0 subunit e1"
                     /db_xref="GeneID:8992"
                     /db_xref="HGNC:HGNC:863"
                     /db_xref="MIM:603931"
     exon            1..194
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..336
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
                     /EC_number="7.1.2.2"
                     /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;
                     ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1;
                     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="CCDS:CCDS4383.1"
                     /db_xref="GeneID:8992"
                     /db_xref="HGNC:HGNC:863"
                     /db_xref="MIM:603931"
                     /translation="MAYHGLTVPLIVMSVFWGFVGFLVPWFIPKGPNRGVIITMLVTC
                     SVCCYLFWLIAILAQLNPLFGPQLKNETIWYLKYHWP"
     exon            195..242
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
                     /inference="alignment:Splign:2.1.0"
     exon            243..372
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
                     /inference="alignment:Splign:2.1.0"
     exon            373..1419
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      838..843
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
                     /note="hexamer: AATAAA"
     polyA_site      866
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
                     /note="major polyA site"
     regulatory      967..972
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
                     /note="hexamer: TATAAA"
     polyA_site      1002
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
     regulatory      1390..1395
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
                     /note="hexamer: ATTAAA"
     regulatory      1397..1402
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
                     /note="hexamer: ATTAAA"
     polyA_site      1407
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
     polyA_site      1419
                     /gene="ATP6V0E1"
                     /gene_synonym="ATP6H; ATP6V0E; M9.2; Vma21; Vma21p"
ORIGIN      
        1 gcacacgctg gtcacgcggt cagctattga cacttcctgg tgggatccga gtgaggcgac
       61 ggggtagggg ttggcgctca ggcggcgacc atggcgtatc acggcctcac tgtgcctctc
      121 attgtgatga gcgtgttctg gggcttcgtc ggcttcttgg tgccttggtt catccctaag
      181 ggtcctaacc ggggagttat cattaccatg ttggtgacct gttcagtttg ctgctatctc
      241 ttttggctga ttgcaattct ggcccaactc aaccctctct ttggaccgca attgaaaaat
      301 gaaaccatct ggtatctgaa gtatcattgg ccttgaggaa gaagacatgc tctacagtgc
      361 tcagtctttg aggtcacgag aagagaatgc cttctagatg caaaatcacc tccaaaccag
      421 accacttttc ttgacttgcc tgttttggcc attagctgcc ttaaacgtta acagcacatt
      481 tgaatgcctt attctacaat gcagcgtgtt ttcctttgcc ttttttgcac tttggtgaat
      541 tacgtgcctc cataacctga actgtgccga ctccacaaaa cgattatgta ctcttctgag
      601 atagaagatg ctgttcttct gagagatacg ttactctctc cttggaatct gtggatttga
      661 agatggctcc tgccttctca cgtgggaatc agtgaagtgt ttagaaactg ctgcaagaca
      721 aacaagactc cagtggggtg gtcagtagga gagcacgttc agagggaaga gccatctcaa
      781 cagaatcgca ccaaactata ctttcaggat gaatttcttc tttctgccat cttttggaat
      841 aaatattttc ctcctttcta tggaaatctg ggctcggtgt ttgtaaagtt catttttata
      901 agcttttcta tcgctacata atgccttttt aaaaaatgat tttgtagtct aaacttaggt
      961 tgagtatata aaccctgcca tgtagcttga gatgcctgaa aagactggta agtgcgtttc
     1021 ttaatcgttc agtaactatt tgagtgccta ctgcagccaa ggcactggag ggatcaaaga
     1081 tgtgtaaatt tggagtccct gcaagttcac aagctatttg gagagataag gttagtatac
     1141 atagaactgt aatataaggt tgtgttggag cattgtcctt aaagatggta ccatggtgag
     1201 cagttcaagg ttacctgcca gctgcagaac aaggcagcaa atgctcctga gatggaacca
     1261 tcacagcctc agacatagga ctaaagaagt caagagtgat taaaaagcca ggggcaggag
     1321 acagtaattt tgtatttcag tagcaggcat ctcgatacac taatttgaga gctttattac
     1381 ttttaagaaa ttaaaaatta aaatgaacct aaattttca
//
