LOCUS       NM_001318063            1599 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens ATPase H+ transporting V1 subunit E2 (ATP6V1E2),
            transcript variant 1, mRNA.
ACCESSION   NM_001318063
VERSION     NM_001318063.2
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 1599)
  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   2  (bases 1 to 1599)
  AUTHORS   Fasci,D., van Ingen,H., Scheltema,R.A. and Heck,A.J.R.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   3  (bases 1 to 1599)
  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 1599)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   5  (bases 1 to 1599)
  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 1599)
  AUTHORS   Kawasaki-Nishi,S., Nishi,T. and Forgac,M.
  TITLE     Proton translocation driven by ATP hydrolysis in V-ATPases
  JOURNAL   FEBS Lett 545 (1), 76-85 (2003)
   PUBMED   12788495
  REMARK    Review article
REFERENCE   7  (bases 1 to 1599)
  AUTHORS   Imai-Senga,Y., Sun-Wada,G.H., Wada,Y. and Futai,M.
  TITLE     A human gene, ATP6E1, encoding a testis-specific isoform of
            H(+)-ATPase subunit E
  JOURNAL   Gene 289 (1-2), 7-12 (2002)
   PUBMED   12036578
REFERENCE   8  (bases 1 to 1599)
  AUTHORS   Nishi,T. and Forgac,M.
  TITLE     The vacuolar (H+)-ATPases--nature's most versatile proton pumps
  JOURNAL   Nat Rev Mol Cell Biol 3 (2), 94-103 (2002)
   PUBMED   11836511
  REMARK    Review article
REFERENCE   9  (bases 1 to 1599)
  AUTHORS   Breton,S., Wiederhold,T., Marshansky,V., Nsumu,N.N., Ramesh,V. and
            Brown,D.
  TITLE     The B1 subunit of the H+ATPase is a PDZ domain-binding protein.
            Colocalization with NHE-RF in renal B-intercalated cells
  JOURNAL   J Biol Chem 275 (24), 18219-18224 (2000)
   PUBMED   10748165
  REMARK    GeneRIF: Rat vacuolar H(+)ATPase associates with NHE-RF (Na(+)/H(+)
            exchanger regulatory factor); the E subunit was
            co-immunoprecipitated from rat kidney cytosol with NHE-RF
            antibodies.
REFERENCE   10 (bases 1 to 1599)
  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
            AC018682.4, AF086285.1, AL541274.3, BC008981.1 and HY189673.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001318063.1.
            
            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 :: AL541274.3, SRR3476690.811342.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000522587.6/ ENSP00000428141.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-361               AC018682.4         76610-76970         c
            362-411             AC018682.4         75797-75846         c
            412-514             AF086285.1         181-283
            515-805             AL541274.3         495-785
            806-1598            BC008981.1         447-1239
            1599-1599           HY189673.1         40-40               c
FEATURES             Location/Qualifiers
     source          1..1599
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..1599
                     /gene="ATP6V1E2"
                     /gene_synonym="ATP6E1; ATP6EL2; ATP6V1EL2; VMA4"
                     /note="ATPase H+ transporting V1 subunit E2"
                     /db_xref="GeneID:90423"
                     /db_xref="HGNC:HGNC:18125"
                     /db_xref="MIM:617385"
     exon            1..361
                     /gene="ATP6V1E2"
                     /gene_synonym="ATP6E1; ATP6EL2; ATP6V1EL2; VMA4"
                     /inference="alignment:Splign:2.1.0"
     exon            362..425
                     /gene="ATP6V1E2"
                     /gene_synonym="ATP6E1; ATP6EL2; ATP6V1EL2; VMA4"
                     /inference="alignment:Splign:2.1.0"
     exon            426..518
                     /gene="ATP6V1E2"
                     /gene_synonym="ATP6E1; ATP6EL2; ATP6V1EL2; VMA4"
                     /inference="alignment:Splign:2.1.0"
     exon            519..633
                     /gene="ATP6V1E2"
                     /gene_synonym="ATP6E1; ATP6EL2; ATP6V1EL2; VMA4"
                     /inference="alignment:Splign:2.1.0"
     exon            634..1599
                     /gene="ATP6V1E2"
                     /gene_synonym="ATP6E1; ATP6EL2; ATP6V1EL2; VMA4"
                     /inference="alignment:Splign:2.1.0"
     CDS             735..1415
                     /gene="ATP6V1E2"
                     /gene_synonym="ATP6E1; ATP6EL2; ATP6V1EL2; VMA4"
                     /note="vacuolar-type proton-translocating ATPase subunit
                     E1; V-ATPase subunit E 2; vacuolar proton pump subunit E
                     2; ATPase, H+ transporting, lysosomal 31kDa, V1 subunit
                     E2; testis secretory sperm-binding protein Li 235P"
                     /codon_start=1
                     /product="V-type proton ATPase subunit E 2"
                     /protein_id="NP_001304992.1"
                     /db_xref="CCDS:CCDS1826.1"
                     /db_xref="GeneID:90423"
                     /db_xref="HGNC:HGNC:18125"
                     /db_xref="MIM:617385"
                     /translation="MALSDVDVKKQIKHMMAFIEQEANEKAEEIDAKAEEEFNIEKGR
                     LVQTQRLKIMEYYEKKEKQIEQQKKILMSTMRNQARLKVLRARNDLISDLLSEAKLRL
                     SRIVEDPEVYQGLLDKLVLQGLLRLLEPVMIVRCRPQDLLLVEAAVQKAIPEYMTISQ
                     KHVEVQIDKEAYLAVNAAGGVEVYSGNQRIKVSNTLESRLDLSAKQKMPEIRMALFGA
                     NTNRKFFI"
     regulatory      1574..1579
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1E2"
                     /gene_synonym="ATP6E1; ATP6EL2; ATP6V1EL2; VMA4"
                     /note="hexamer: AATAAA"
     polyA_site      1599
                     /gene="ATP6V1E2"
                     /gene_synonym="ATP6E1; ATP6EL2; ATP6V1EL2; VMA4"
                     /note="major polyA site"
ORIGIN      
        1 gcccccgcct gctgccgccg cgcggccctg ccggcgcacc cgagccccac tccctgcgag
       61 ggccgcgcgg aggggcgcgc aggaggagga ggagccgagg accgcggagg ggaggagggg
      121 agtcgcctgg ggagccgagg gctcctcgcg caagtgcccg cagcgcccgg aagcgtccaa
      181 aggccccgat gctgggagaa gacgtggagg cctctcgggg aaccacgacg acctccacga
      241 tgacgcaata gtcatgccaa attatacatg catatttcac ctccacccgg aaggccagag
      301 ccatcctctc ggcctctaag tgcacaacgg aactagaaat caaggaggag agaccaaaag
      361 ggaggcctga actctcaaac tccgaatctg atttccactc tcccaggaag tcttcggaaa
      421 tcactgtgga ttgtcaatac aggagtccat actgactgaa tccctaattt tggcctgtat
      481 tcttctccct ctgtgaacca tcttcttaga agtcactgaa ccaagagtgc cagaaaacca
      541 tcccaagact cacacagagt tgttcttcca tagtggatgt tttggccact ggacatcaga
      601 accacatttt gggtttgaag aatcttctac atgctgagaa agtggaactc cagagacact
      661 cctgaaattg tcctaagtca aaggagccaa acggtgtacg agctccctct ctgccgtccc
      721 ctctgagagc agccatggcc ctgagtgatg tcgatgtgaa aaagcagatt aagcacatga
      781 tggctttcat tgagcaggaa gccaatgaga aagcagagga aatcgatgcc aaggctgagg
      841 aagagtttaa cattgagaaa ggacgcctcg tgcaaaccca acgactgaag attatggagt
      901 attatgagaa aaaggagaag cagatagagc agcagaagaa aatcctgatg tccaccatga
      961 ggaatcaggc gaggctgaaa gtcctgagag cccgaaatga cctcatctca gatttgctca
     1021 gtgaggcgaa gctgagactc agcaggattg tggaggaccc agaggtctac caggggctgc
     1081 tggataaact ggtgctccag ggtctgctcc gactgctgga acctgtgatg attgtacgct
     1141 gccggccaca agacctcctc ctggtggagg ctgctgtaca aaaagccatc cccgagtaca
     1201 tgacaatttc ccagaaacat gtggaggtcc agattgataa agaggcatac ctggctgtga
     1261 atgcagctgg aggtgtggag gtctacagtg gcaatcagag aataaaggtt tcaaatacct
     1321 tggaaagccg actggatctc tcagccaagc aaaagatgcc agaaatacga atggccttgt
     1381 ttggtgctaa caccaacaga aagttcttta tataagcctc tgggaagtga agctagtgtt
     1441 gaaccactaa accataaaag tttaagtttt ttggggaaag gaaactagta gtgtttcctc
     1501 ctctttgatg ctctgatact gttctgtttt tcttcacgaa ataccctttg gatagctaaa
     1561 gtgttaactt tgaaataaag cccaaattaa tgctcagaa
//
