LOCUS       NM_145230               1723 bp    mRNA    linear   PRI 15-FEB-2024
DEFINITION  Homo sapiens ATPase H+ transporting V0 subunit e2 (ATP6V0E2),
            transcript variant 1, mRNA.
ACCESSION   NM_145230 XM_088142 XM_379968
VERSION     NM_145230.4
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 1723)
  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   2  (bases 1 to 1723)
  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 1723)
  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
  REMARK    GeneRIF: The identification of this novel form of the e-subunit
            lends further support to the hypothesis that subunit differences
            may play a key role in the structure, site and function of
            H(+)-ATPases within the cell.[ATPV0E2]
REFERENCE   4  (bases 1 to 1723)
  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     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093458.6.
            
            On Aug 10, 2020 this sequence version replaced NM_145230.3.
            
            Summary: Multisubunit vacuolar-type proton pumps, or H(+)-ATPases,
            acidify various intracellular compartments, such as vacuoles,
            clathrin-coated and synaptic vesicles, endosomes, lysosomes, and
            chromaffin granules. H(+)-ATPases are also found in plasma
            membranes of specialized cells, where they play roles in urinary
            acidification, bone resorption, and sperm maturation. Multiple
            subunits form H(+)-ATPases, with proteins of the V1 class
            hydrolyzing ATP for energy to transport H+, and proteins of the V0
            class forming an integral membrane domain through which H+ is
            transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e
            subunit, an essential proton pump component (Blake-Palmer et al.,
            2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the predominantly
            occurring transcript and it encodes isoform 1. Variants 1 and 6
            both encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX640846.1, AY037164.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000425642.3/
                                                ENSP00000396148.2
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-201               AC093458.6         2903-3103
            202-249             AC093458.6         4532-4579
            250-362             AC093458.6         7612-7724
            363-1723            AC093458.6         8269-9629
FEATURES             Location/Qualifiers
     source          1..1723
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..1723
                     /gene="ATP6V0E2"
                     /gene_synonym="ATP6V0E2L; C7orf32"
                     /note="ATPase H+ transporting V0 subunit e2"
                     /db_xref="GeneID:155066"
                     /db_xref="HGNC:HGNC:21723"
                     /db_xref="MIM:611019"
     exon            1..201
                     /gene="ATP6V0E2"
                     /gene_synonym="ATP6V0E2L; C7orf32"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..343
                     /gene="ATP6V0E2"
                     /gene_synonym="ATP6V0E2L; C7orf32"
                     /note="isoform 1 is encoded by transcript variant 1;
                     V-type proton ATPase subunit e 2; vacuolar proton-ATPase
                     subunit; H+-ATPase e2 subunit; V-ATPase subunit e 2;
                     vacuolar proton pump subunit e 2; lysosomal 9 kDa
                     H(+)-transporting ATPase V0 subunit e2; V-ATPase subunit
                     e1"
                     /codon_start=1
                     /product="V-type proton ATPase subunit e 2 isoform 1"
                     /protein_id="NP_660265.3"
                     /db_xref="CCDS:CCDS55181.2"
                     /db_xref="GeneID:155066"
                     /db_xref="HGNC:HGNC:21723"
                     /db_xref="MIM:611019"
                     /translation="MTAHSFALPVIIFTTFWGLVGIAGPWFVPKGPNRGVIITMLVAT
                     AVCCYLFWLIAILAQLNPLFGPQLKNETIWYVRFLWE"
     exon            202..249
                     /gene="ATP6V0E2"
                     /gene_synonym="ATP6V0E2L; C7orf32"
                     /inference="alignment:Splign:2.1.0"
     exon            250..362
                     /gene="ATP6V0E2"
                     /gene_synonym="ATP6V0E2L; C7orf32"
                     /inference="alignment:Splign:2.1.0"
     exon            363..1723
                     /gene="ATP6V0E2"
                     /gene_synonym="ATP6V0E2L; C7orf32"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1705..1710
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V0E2"
                     /gene_synonym="ATP6V0E2L; C7orf32"
                     /note="hexamer: AATAAT"
     polyA_site      1723
                     /gene="ATP6V0E2"
                     /gene_synonym="ATP6V0E2L; C7orf32"
                     /note="major polyA site"
ORIGIN      
        1 gttgcgcatg ctcagcgcgc tgcccggctg gggacccgcg cacctgcagc gcccgctgct
       61 cggccctgca tcctgcctgg gcatcctgcg cccggccatg acggcgcact cattcgccct
      121 cccggtcatc atcttcacca cgttctgggg cctcgtcggc atcgccgggc cctggttcgt
      181 gccgaaggga cccaaccgcg gagtgatcat caccatgctg gtcgccaccg ccgtctgctg
      241 ttacctcttc tggctcatcg ccatcctggc gcagctgaac cccctgttcg ggccccagct
      301 gaagaatgag accatctggt acgtgcgctt cctgtgggag tgacccgccg cccccgaccc
      361 aggtgcccag ctctcggaat gactgtggct ccactgtccc tgacaacccc ttcgtccgga
      421 ccctccccca cacaactatg tctggtcacc agctccctcc tgctggcacc cagagacccg
      481 gacccgcagg gcctgcctgg ttcctggaag tcttcccagt cttcccagcc agcccgggcc
      541 ctggggagcc ctgggcacag cagcggccga ggggatgtcc tgctccaata cccgcactgc
      601 tctggagttt gccctctttc ccaaggagat gctgctgggg agctggtatg ggtggggtct
      661 ttccctttac agacggggca gatgccagga ctcagcccat cctgaggagg acacgtgtcc
      721 tcatggagag ggtgctccgg cccaggcggg ggagtcagtg cccagtcagc agctctgcca
      781 ccatcctgct gggaactggg ggggcctcta ttgggttata ggcaaggcct tttctctggc
      841 atggaattgt taattttctg acacgtctag atgtgaaatt tctgaaaatg ttgaagcaga
      901 gaaacattca cacacaaaaa gcaacatagt catgtgggtc cagatggcct cagtcctaga
      961 tgttggcacc ctttgctgtg tctcctcaga gtatcctgtt ccgcctcctg ccacctggac
     1021 ctccctcagt ggatgtcttc cctcccccga ccccagcctg tcagtccgag cacagtgcag
     1081 gtttggctct gacttgggct tttggctgca gtgggggtgg atttcagagc ctctcatggc
     1141 agcatctaag tgaccagagc tgggatgaga gaggggaagg ggcaatgtga gtggcgctat
     1201 gggacgggcc agccctgctc ctgagccagc cccgccctct gccccctggc cctgggctct
     1261 gtgctaggga tggtgaagaa tgggggcgtg ccagcctggc aggagtggga agcaacacgc
     1321 aggggtcccg gacctctcca gccttgccct cacgcttacc cgagctccca gtgtggttag
     1381 cacagagctc acccaccttg cctggctccc agctggggcc tgtcctcact ggtgctccag
     1441 gggaagaaac gacagcctca cttctgtatg gactgctgat gtggcctgcc atcctgttca
     1501 gcgggcattg tctttggagc agcaggagaa taggatgcct ctcactcaca tgccagttcc
     1561 tggctggcca gctgctcagg gctcaggctg gggcctccca ttgacatcct ccccctacac
     1621 tccctctctg agcctccgtc gcccctcctg ttgggtaagg gtgttgagtg tgacttgtgc
     1681 tgaaaacctg gttcatatat aataaataat ggtgatgaaa aga
//
