LOCUS       NM_001692               1907 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens ATPase H+ transporting V1 subunit B1 (ATP6V1B1), mRNA.
ACCESSION   NM_001692
VERSION     NM_001692.4
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 1907)
  AUTHORS   AitRaise,I., Amalou,G., Bousfiha,A., Charoute,H., Rouba,H.,
            Abdelghaffar,H., Bonnet,C., Petit,C. and Barakat,A.
  TITLE     Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants
            detected among hearing impaired families in Morocco
  JOURNAL   Mol Biol Rep 49 (5), 3949-3954 (2022)
   PUBMED   35301649
  REMARK    GeneRIF: Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB
            variants detected among hearing impaired families in Morocco.
REFERENCE   2  (bases 1 to 1907)
  AUTHORS   Zhang,R., Chen,Z., Song,Q., Wang,S., Liu,Z., Zhao,X., Shi,X.,
            Guo,W., Lang,Y., Bottillo,I. and Shao,L.
  TITLE     Identification of seven exonic variants in the SLC4A1, ATP6V1B1,
            and ATP6V0A4 genes that alter RNA splicing by minigene assay
  JOURNAL   Hum Mutat 42 (9), 1153-1164 (2021)
   PUBMED   34157794
  REMARK    GeneRIF: Identification of seven exonic variants in the SLC4A1,
            ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene
            assay.
REFERENCE   3  (bases 1 to 1907)
  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   4  (bases 1 to 1907)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1907)
  AUTHORS   Dahmani,M., Talbi,S., Ammar-Khodja,F., Ouhab,S., Boudjenah,F.,
            Djebbar,M., Bonnet,C. and Petit,C.
  TITLE     ATP6V1B1 recurrent mutations in Algerian deaf patients associated
            with renal tubular acidosis
  JOURNAL   Int J Pediatr Otorhinolaryngol 129, 109772 (2020)
   PUBMED   31733597
  REMARK    GeneRIF: Our study indicates the importance contribution of
            ATP6V1B1 gene mutations to the pathogenesis of the dRTA in the
            Algerian population and will contribute to introducing principles
            to predict the characteristics of the dRTA in patients.
REFERENCE   6  (bases 1 to 1907)
  AUTHORS   Breton,S., Smith,P.J., Lui,B. and Brown,D.
  TITLE     Acidification of the male reproductive tract by a proton pumping
            (H+)-ATPase
  JOURNAL   Nat Med 2 (4), 470-472 (1996)
   PUBMED   8597961
REFERENCE   7  (bases 1 to 1907)
  AUTHORS   van Hille,B., Richener,H., Schmid,P., Puettner,I., Green,J.R. and
            Bilbe,G.
  TITLE     Heterogeneity of vacuolar H(+)-ATPase: differential expression of
            two human subunit B isoforms
  JOURNAL   Biochem J 303 (Pt 1) (Pt 1), 191-198 (1994)
   PUBMED   7945239
REFERENCE   8  (bases 1 to 1907)
  AUTHORS   Alexander,R.T., Law,L., Gil-Pena,H., Greenbaum,L.A. and Santos,F.
  TITLE     Hereditary Distal Renal Tubular Acidosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31600044
REFERENCE   9  (bases 1 to 1907)
  AUTHORS   Sudhof,T.C., Fried,V.A., Stone,D.K., Johnston,P.A. and Xie,X.S.
  TITLE     Human endomembrane H+ pump strongly resembles the ATP-synthetase of
            Archaebacteria
  JOURNAL   Proc Natl Acad Sci U S A 86 (16), 6067-6071 (1989)
   PUBMED   2527371
REFERENCE   10 (bases 1 to 1907)
  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 AK313194.1, BC063411.1 and
            AI769776.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 21, 2018 this sequence version replaced NM_001692.3.
            
            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 one of two V1 domain B subunit isoforms and is found in
            the kidney. Mutations in this gene cause distal renal tubular
            acidosis associated with sensorineural deafness. [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 :: BC063411.1, AK291121.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000234396.10/ ENSP00000234396.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1597              AK313194.1         9-1605
            1598-1903           BC063411.1         1607-1912
            1904-1907           AI769776.1         13-16               c
FEATURES             Location/Qualifiers
     source          1..1907
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     gene            1..1907
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /note="ATPase H+ transporting V1 subunit B1"
                     /db_xref="GeneID:525"
                     /db_xref="HGNC:HGNC:853"
                     /db_xref="MIM:192132"
     exon            1..173
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..1597
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /EC_number="7.1.2.2"
                     /note="vacuolar proton pump 3; vacuolar proton pump,
                     subunit 3; V-ATPase B1 subunit; endomembrane proton pump
                     58 kDa subunit; H(+)-transporting two-sector ATPase, 58kD
                     subunit; H+-ATPase beta 1 subunit; ATPase, H+
                     transporting, lysosomal 56/58kDa, V1 subunit B1; V-ATPase
                     subunit B 1; vacuolar proton pump subunit B 1"
                     /codon_start=1
                     /product="V-type proton ATPase subunit B, kidney isoform"
                     /protein_id="NP_001683.2"
                     /db_xref="CCDS:CCDS1912.1"
                     /db_xref="GeneID:525"
                     /db_xref="HGNC:HGNC:853"
                     /db_xref="MIM:192132"
                     /translation="MAMEIDSRPGGLPGSSCNLGAAREHMQAVTRNYITHPRVTYRTV
                     CSVNGPLVVLDRVKFAQYAEIVHFTLPDGTQRSGQVLEVAGTKAIVQVFEGTSGIDAR
                     KTTCEFTGDILRTPVSEDMLGRVFNGSGKPIDKGPVVMAEDFLDINGQPINPHSRIYP
                     EEMIQTGISPIDVMNSIARGQKIPIFSAAGLPHNEIAAQICRQAGLVKKSKAVLDYHD
                     DNFAIVFAAMGVNMETARFFKSDFEQNGTMGNVCLFLNLANDPTIERIITPRLALTTA
                     EFLAYQCEKHVLVILTDMSSYAEALREVSAAREEVPGRRGFPGYMYTDLATIYERAGR
                     VEGRGGSITQIPILTMPNDDITHPIPDLTGFITEGQIYVDRQLHNRQIYPPINVLPSL
                     SRLMKSAIGEGMTRKDHGDVSNQLYACYAIGKDVQAMKAVVGEEALTSEDLLYLEFLQ
                     KFEKNFINQGPYENRSVFESLDLGWKLLRIFPKEMLKRIPQAVIDEFYSREGALQDLA
                     PDTAL"
     exon            174..229
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            230..328
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            329..422
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            423..500
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            501..640
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            641..742
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            743..840
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            841..964
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            965..1115
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..1198
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1199..1303
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1304..1433
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1907
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1876..1881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /note="hexamer: AATAAA"
     regulatory      1882..1887
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /note="hexamer: AATAAA"
     polyA_site      1897
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /note="major polyA site"
     polyA_site      1903
                     /gene="ATP6V1B1"
                     /gene_synonym="ATP6B1; DRTA2; RTA1B; VATB; VMA2; VPP3"
                     /note="major polyA site"
ORIGIN      
        1 agagctgcca ccagcagcag gctcagacac tgggctccca gctggggact gctccatggc
       61 catggagata gacagcaggc ctggggggct ccccggcagt agctgcaacc taggtgcagc
      121 ccgagaacac atgcaggcgg tcacccgaaa ctacatcacc cacccccgtg tcacctacag
      181 gactgtgtgc agcgtgaacg ggcccctggt ggtgctggac cgggtcaagt ttgcccagta
      241 tgcggagatc gtccacttca ccctcccaga tgggactcag aggagcgggc aggtgcttga
      301 ggtggctggc accaaggcga ttgttcaggt gtttgaaggg acatcaggga tcgatgccag
      361 gaagaccact tgcgaattta caggggacat cctacgaact ccggtgtcag aggacatgct
      421 gggtcgggtt ttcaatggct ccggcaagcc cattgacaag gggccagtgg tcatggcgga
      481 ggactttctg gatatcaatg gccagcccat caacccgcac tcccgcatct accccgagga
      541 gatgattcag acgggcattt ctcctattga cgtcatgaac agcattgccc gcggccagaa
      601 gatccccatc ttctcagcag ccgggctccc ccacaatgag attgccgctc agatctgccg
      661 ccaggcgggg ctggtgaaga agtccaaggc tgtgctggat taccatgacg acaacttcgc
      721 catcgtcttt gcagccatgg gggtgaacat ggagacagcc agattcttca agtctgactt
      781 tgagcagaat ggaaccatgg ggaacgtctg cctcttcctg aacttggcca atgaccccac
      841 gatcgagcgg atcatcaccc cgcgcctggc gctgaccact gctgaattcc ttgcctacca
      901 gtgtgagaag catgtgctgg tcatactgac ggacatgagt tcctatgcag aggccttgcg
      961 ggaggtctct gctgctagag aggaggtgcc tgggcgccga gggtttcctg gatatatgta
     1021 cacagacctg gccaccatct acgagcgggc gggccgcgtg gagggtcggg gaggatccat
     1081 cacacagatc cccatcctca ccatgcccaa cgacgatatc acccacccta tcccagactt
     1141 gacgggcttc atcacagagg gacagatcta cgtggacaga cagcttcaca acagacagat
     1201 ctaccccccc atcaacgtgc tcccttccct gtcgcggctg atgaagtcag ccattgggga
     1261 aggcatgaca agaaaggacc atggagatgt ctccaaccag ctgtacgcct gctatgccat
     1321 cgggaaggac gtgcaggcca tgaaggcagt agttggggag gaggcgctca cctctgagga
     1381 cctgctctac ctggaattcc tgcagaagtt tgagaagaac ttcatcaatc agggccccta
     1441 cgagaaccgc tcggtgttcg agtcgctgga cctgggctgg aagctgctgc gcatcttccc
     1501 caaggagatg ctgaagcgca ttccgcaggc cgtgatcgac gagttctatt cccgcgaggg
     1561 ggcgctgcag gacctcgcgc ctgacactgc gctctagccc cgcgcgccgt ggcaccccaa
     1621 caccggcagg gaacctaccc tcggctcccg ggtctcccct ccctcgccac cccaaccagc
     1681 ggcttctgcg ccgccctccg ccctccgctg gctccgaggt ggtgggggcg ccgcacgctc
     1741 catccctttc cctcgctcga ttccttttcc cgcgctccat gcctccccct cgactcccgg
     1801 tgctgcggaa gaactgaagg ttgcgatgcc ttactctgac gggagcatct gtatttttat
     1861 gttaaaagcc cacaaaataa aaataaaaag taactgagat gaattta
//
