LOCUS       NM_001694               1093 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ATPase H+ transporting V0 subunit c (ATP6V0C),
            transcript variant 1, mRNA.
ACCESSION   NM_001694 XM_939787
VERSION     NM_001694.4
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 1093)
  AUTHORS   Ren,X., Wang,J., Wei,H., Li,X., Tian,Y., Wang,Z., Yin,Y., Guo,Z.,
            Qin,Z., Wu,M. and Zeng,X.
  TITLE     Impaired TFEB-mediated autophagy-lysosome fusion promotes tubular
            cell cycle G2/M arrest and renal fibrosis by suppressing ATP6V0C
            expression and interacting with SNAREs
  JOURNAL   Int J Biol Sci 20 (5), 1905-1926 (2024)
   PUBMED   38481802
  REMARK    GeneRIF: Impaired TFEB-mediated autophagy-lysosome fusion promotes
            tubular cell cycle G2/M arrest and renal fibrosis by suppressing
            ATP6V0C expression and interacting with SNAREs.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1093)
  AUTHORS   Zhao,S., Zhang,X., Yang,L., Wang,Y., Jia,S., Li,X., Wang,Z.,
            Yang,F., Liang,M., Wang,X. and Wang,D.
  TITLE     ATP6V0C gene variants were identified in individuals with epilepsy,
            with or without developmental delay
  JOURNAL   J Hum Genet 68 (9), 589-597 (2023)
   PUBMED   37161035
  REMARK    GeneRIF: ATP6V0C gene variants were identified in individuals with
            epilepsy, with or without developmental delay.
REFERENCE   3  (bases 1 to 1093)
  AUTHORS   Mattison,K.A., Tossing,G., Mulroe,F., Simmons,C., Butler,K.M.,
            Schreiber,A., Alsadah,A., Neilson,D.E., Naess,K., Wedell,A.,
            Wredenberg,A., Sorlin,A., McCann,E., Burghel,G.J., Menendez,B.,
            Hoganson,G.E., Botto,L.D., Filloux,F.M., Aledo-Serrano,A.,
            Gil-Nagel,A., Tatton-Brown,K., Verbeek,N.E., van der Zwaag,B.,
            Aleck,K.A., Fazenbaker,A.C., Balciuniene,J., Dubbs,H.A.,
            Marsh,E.D., Garber,K., Ek,J., Duno,M., Hoei-Hansen,C.E.,
            Deardorff,M.A., Raca,G., Quindipan,C., van Hirtum-Das,M.,
            Breckpot,J., Hammer,T.B., Moller,R.S., Whitney,A., Douglas,A.G.L.,
            Kharbanda,M., Brunetti-Pierri,N., Morleo,M., Nigro,V., May,H.J.,
            Tao,J.X., Argilli,E., Sherr,E.H., Dobyns,W.B., Baines,R.A.,
            Warwicker,J., Parker,J.A., Banka,S., Campeau,P.M. and Escayg,A.
  CONSRTM   Genomics England Research Consortium
  TITLE     ATP6V0C variants impair V-ATPase function causing a
            neurodevelopmental disorder often associated with epilepsy
  JOURNAL   Brain 146 (4), 1357-1372 (2023)
   PUBMED   36074901
  REMARK    GeneRIF: ATP6V0C variants impair V-ATPase function causing a
            neurodevelopmental disorder often associated with epilepsy.
REFERENCE   4  (bases 1 to 1093)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 1093)
  AUTHORS   Wang,L., Wu,D., Robinson,C.V., Wu,H. and Fu,T.M.
  TITLE     Structures of a Complete Human V-ATPase Reveal Mechanisms of Its
            Assembly
  JOURNAL   Mol Cell 80 (3), 501-511 (2020)
   PUBMED   33065002
REFERENCE   6  (bases 1 to 1093)
  AUTHORS   Koralnik,I.J., Mulloy,J.C., Andresson,T., Fullen,J. and
            Franchini,G.
  TITLE     Mapping of the intermolecular association of human T cell
            leukaemia/lymphotropic virus type I p12I and the vacuolar H+-ATPase
            16 kDa subunit protein
  JOURNAL   J Gen Virol 76 (Pt 8), 1909-1916 (1995)
   PUBMED   7636472
REFERENCE   7  (bases 1 to 1093)
  AUTHORS   Goldstein,D.J., Andresson,T., Sparkowski,J.J. and Schlegel,R.
  TITLE     The BPV-1 E5 protein, the 16 kDa membrane pore-forming protein and
            the PDGF receptor exist in a complex that is dependent on
            hydrophobic transmembrane interactions
  JOURNAL   EMBO J 11 (13), 4851-4859 (1992)
   PUBMED   1334459
REFERENCE   8  (bases 1 to 1093)
  AUTHORS   Hasebe,M., Hanada,H., Moriyama,Y., Maeda,M. and Futai,M.
  TITLE     Vacuolar type H(+)-ATPase genes: presence of four genes including
            pseudogenes for the 16-kDa proteolipid subunit in the human genome
  JOURNAL   Biochem Biophys Res Commun 183 (2), 856-863 (1992)
   PUBMED   1532310
REFERENCE   9  (bases 1 to 1093)
  AUTHORS   Gillespie,G.A., Somlo,S., Germino,G.G., Weinstat-Saslow,D. and
            Reeders,S.T.
  TITLE     CpG island in the region of an autosomal dominant polycystic kidney
            disease locus defines the 5' end of a gene encoding a putative
            proton channel
  JOURNAL   Proc Natl Acad Sci U S A 88 (10), 4289-4293 (1991)
   PUBMED   1709739
REFERENCE   10 (bases 1 to 1093)
  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 AC093525.3 and BC009290.2.
            
            On Nov 22, 2018 this sequence version replaced NM_001694.3.
            
            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. This gene encodes the V0
            subunit c. Alternative splicing results in transcript variants.
            Pseudogenes have been identified on chromosomes 6 and 17. [provided
            by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            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 :: SRR3476690.668852.1,
                                           SRR3476690.254198.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330398.9/ ENSP00000329757.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AC093525.3         79276-79288         c
            14-1093             BC009290.2         1-1080
FEATURES             Location/Qualifiers
     source          1..1093
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1093
                     /gene="ATP6V0C"
                     /gene_synonym="ATP6C; ATP6L; ATPL; EPEO3; VATL; Vma3;
                     VPPC"
                     /note="ATPase H+ transporting V0 subunit c"
                     /db_xref="GeneID:527"
                     /db_xref="HGNC:HGNC:855"
                     /db_xref="MIM:108745"
     exon            1..231
                     /gene="ATP6V0C"
                     /gene_synonym="ATP6C; ATP6L; ATPL; EPEO3; VATL; Vma3;
                     VPPC"
                     /inference="alignment:Splign:2.1.0"
     CDS             153..620
                     /gene="ATP6V0C"
                     /gene_synonym="ATP6C; ATP6L; ATPL; EPEO3; VATL; Vma3;
                     VPPC"
                     /EC_number="7.1.2.2"
                     /note="vacuolar ATP synthase 16 kDa proteolipid subunit;
                     H(+)-transporting two-sector ATPase, 16 kDa subunit;
                     vacuolar H+ ATPase proton channel subunit; V-type proton
                     ATPase 16 kDa proteolipid subunit; V-ATPase 16 kDa
                     proteolipid subunit; vacuolar proton pump 16 kDa
                     proteolipid subunit; ATPase, H+ transporting, lysosomal
                     16kDa, V0 subunit c; V-ATPase 16 kDa proteolipid subunit
                     c; vacuolar proton pump 16 kDa proteolipid subunit c"
                     /codon_start=1
                     /product="V-type proton ATPase 16 kDa proteolipid subunit
                     c"
                     /protein_id="NP_001685.1"
                     /db_xref="CCDS:CCDS10470.1"
                     /db_xref="GeneID:527"
                     /db_xref="HGNC:HGNC:855"
                     /db_xref="MIM:108745"
                     /translation="MSESKSGPEYASFFAVMGASAAMVFSALGAAYGTAKSGTGIAAM
                     SVMRPEQIMKSIIPVVMAGIIAIYGLVVAVLIANSLNDDISLYKSFLQLGAGLSVGLS
                     GLAAGFAIGIVGDAGVRGTAQQPRLFVGMILILIFAEVLGLYGLIVALILSTK"
     exon            232..415
                     /gene="ATP6V0C"
                     /gene_synonym="ATP6C; ATP6L; ATPL; EPEO3; VATL; Vma3;
                     VPPC"
                     /inference="alignment:Splign:2.1.0"
     exon            416..1093
                     /gene="ATP6V0C"
                     /gene_synonym="ATP6C; ATP6L; ATPL; EPEO3; VATL; Vma3;
                     VPPC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1074..1079
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V0C"
                     /gene_synonym="ATP6C; ATP6L; ATPL; EPEO3; VATL; Vma3;
                     VPPC"
                     /note="hexamer: AATAAA"
     polyA_site      1093
                     /gene="ATP6V0C"
                     /gene_synonym="ATP6C; ATP6L; ATPL; EPEO3; VATL; Vma3;
                     VPPC"
                     /note="major polyA site"
ORIGIN      
        1 gttctgcggt gctggtattt agagcgcagc ggctgacggg ccggatcgcc ttcgccgccg
       61 cccgcccgca aaccttcgtg cccggcccgt cctcgccccc gcctccgcca ccgcctcggc
      121 ccgcagagct tgccccctcc ccacccgcag acatgtccga gtccaagagc ggccccgagt
      181 atgcttcgtt tttcgccgtc atgggcgcct cggccgccat ggtcttcagc gccctgggcg
      241 ctgcctatgg cacagccaag agcggtaccg gcattgcggc catgtctgtc atgcggccgg
      301 agcagatcat gaagtccatc atcccagtgg tcatggctgg catcatcgcc atctacggcc
      361 tggtggtggc agtcctcatc gccaactccc tgaatgacga catcagcctc tacaagagct
      421 tcctccagct gggcgccggc ctgagcgtgg gcctgagcgg cctggcagcc ggctttgcca
      481 tcggcatcgt gggggacgct ggcgtgcggg gcaccgccca gcagccccga ctattcgtgg
      541 gcatgatcct gattctcatc ttcgccgagg tgctcggcct ctacggtctc atcgtcgccc
      601 tcatcctctc cacaaagtag accctctccg agcccaccag ccacagaata ttatgtaaag
      661 accacccctc ctcattccag aacgaacagc ctgacacata cgcacggggc cgccgccccc
      721 agtagttggt cttgtacatg cgcagtgtcc tagtgcccat cgtctgtttc cccggccttg
      781 cccccgcccg ccccgtgccg tggacatctg ggcccactca tcgcccctcc aggcccccgg
      841 cgccccaccc cctagagtgc tctgtgtatg cggatgattt agaattgtca tttctcttta
      901 ctggatgttt atttataaag atctggcctg ttcctgcgtc tgcggagcgg cccttgtctc
      961 ccagctatct ataaccttag ctagagtgtc gccttgtggg ttcctgttgc tgagacttcc
     1021 tggatggagc cgccctcacc gccgggcccg tggccctgcg cggagctgtg tccaataaag
     1081 ttcttggatg tga
//
