LOCUS       NM_001693               2856 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens ATPase H+ transporting V1 subunit B2 (ATP6V1B2), mRNA.
ACCESSION   NM_001693
VERSION     NM_001693.4
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 2856)
  AUTHORS   Zheng,Y.X., Wang,L., Kong,W.S., Chen,H., Wang,X.N., Meng,Q.,
            Zhang,H.N., Guo,S.J., Jiang,H.W. and Tao,S.C.
  TITLE     Nsp2 has the potential to be a drug target revealed by global
            identification of SARS-CoV-2 Nsp2-interacting proteins
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 53 (9), 1134-1141 (2021)
   PUBMED   34159380
REFERENCE   2  (bases 1 to 2856)
  AUTHORS   Beauregard-Lacroix,E., Pacheco-Cuellar,G., Ajeawung,N.F.,
            Tardif,J., Dieterich,K., Dabir,T., Vind-Kezunovic,D., White,S.M.,
            Zadori,D., Castiglioni,C., Tranebjaerg,L., Torring,P.M., Blair,E.,
            Wisniewska,M., Camurri,M.V., van Bever,Y., Molidperee,S.,
            Taylor,J., Dionne-Laporte,A., Sisodiya,S.M., Hennekam,R.C.M. and
            Campeau,P.M.
  TITLE     DOORS syndrome and a recurrent truncating ATP6V1B2 variant
  JOURNAL   Genet Med 23 (1), 149-154 (2021)
   PUBMED   32873933
  REMARK    GeneRIF: DOORS syndrome and a recurrent truncating ATP6V1B2
            variant.
            Erratum:[Genet Med. 2021 Jan;23(1):237. doi:
            10.1038/s41436-020-00969-y.. PMID: 32934366]
REFERENCE   3  (bases 1 to 2856)
  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 2856)
  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 2856)
  AUTHORS   Shaw,M., Winczewska-Wiktor,A., Badura-Stronka,M., Koirala,S.,
            Gardner,A., Kuszel,L., Kowal,P., Steinborn,B., Starczewska,M.,
            Garry,S., Scheffer,I.E., Berkovic,S.F. and Gecz,J.
  TITLE     EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal
            dominant epilepsy, intellectual disability and mild gingival and
            nail abnormalities
  JOURNAL   Eur J Med Genet 63 (4), 103799 (2020)
   PUBMED   31655144
  REMARK    GeneRIF: EXOME REPORT: Novel mutation in ATP6V1B2 segregating with
            autosomal dominant epilepsy, intellectual disability and mild
            gingival and nail abnormalities.
REFERENCE   6  (bases 1 to 2856)
  AUTHORS   Lee,B.S., Underhill,D.M., Crane,M.K. and Gluck,S.L.
  TITLE     Transcriptional regulation of the vacuolar H(+)-ATPase B2 subunit
            gene in differentiating THP-1 cells
  JOURNAL   J Biol Chem 270 (13), 7320-7329 (1995)
   PUBMED   7706273
REFERENCE   7  (bases 1 to 2856)
  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 2856)
  AUTHORS   Nelson,R.D., Guo,X.L., Masood,K., Brown,D., Kalkbrenner,M. and
            Gluck,S.
  TITLE     Selectively amplified expression of an isoform of the vacuolar
            H(+)-ATPase 56-kilodalton subunit in renal intercalated cells
  JOURNAL   Proc Natl Acad Sci U S A 89 (8), 3541-3545 (1992)
   PUBMED   1373501
REFERENCE   9  (bases 1 to 2856)
  AUTHORS   Bernasconi,P., Rausch,T., Struve,I., Morgan,L. and Taiz,L.
  TITLE     An mRNA from human brain encodes an isoform of the B subunit of the
            vacuolar H(+)-ATPase
  JOURNAL   J Biol Chem 265 (29), 17428-17431 (1990)
   PUBMED   2145275
REFERENCE   10 (bases 1 to 2856)
  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 AC025853.17, BC030640.2,
            X62949.1 and BC007309.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001693.3.
            
            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, three B, and two G subunits, as
            well as a C, D, E, F, and H subunit. The V1 domain contains the ATP
            catalytic site. The protein encoded by this gene is one of two V1
            domain B subunit isoforms and is the only B isoform highly
            expressed in osteoclasts. [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 :: SRR1803616.37208.1,
                                           SRR3476690.686943.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000276390.7/ ENSP00000276390.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AC025853.17        80113-80116         c
            5-108               BC030640.2         5-108
            109-2595            X62949.1           108-2594
            2596-2856           BC007309.1         2541-2801
FEATURES             Location/Qualifiers
     source          1..2856
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     gene            1..2856
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /note="ATPase H+ transporting V1 subunit B2"
                     /db_xref="GeneID:526"
                     /db_xref="HGNC:HGNC:854"
                     /db_xref="MIM:606939"
     exon            1..162
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..1562
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /EC_number="7.1.2.2"
                     /note="ATPase, H+ transporting, lysosomal 56/58kDa, V1
                     subunit B2; endomembrane proton pump 58 kDa subunit;
                     V-ATPase B2 subunit; vacuolar H+-ATPase 56,000 subunit; H+
                     transporting two-sector ATPase; V-ATPase subunit B 2;
                     vacuolar proton pump subunit B 2; testicular secretory
                     protein Li 65"
                     /codon_start=1
                     /product="V-type proton ATPase subunit B, brain isoform"
                     /protein_id="NP_001684.2"
                     /db_xref="CCDS:CCDS6014.1"
                     /db_xref="GeneID:526"
                     /db_xref="HGNC:HGNC:854"
                     /db_xref="MIM:606939"
                     /translation="MALRAMRGIVNGAAPELPVPTGGPAVGAREQALAVSRNYLSQPR
                     LTYKTVSGVNGPLVILDHVKFPRYAEIVHLTLPDGTKRSGQVLEVSGSKAVVQVFEGT
                     SGIDAKKTSCEFTGDILRTPVSEDMLGRVFNGSGKPIDRGPVVLAEDFLDIMGQPINP
                     QCRIYPEEMIQTGISAIDGMNSIARGQKIPIFSAAGLPHNEIAAQICRQAGLVKKSKD
                     VVDYSEENFAIVFAAMGVNMETARFFKSDFEENGSMDNVCLFLNLANDPTIERIITPR
                     LALTTAEFLAYQCEKHVLVILTDMSSYAEALREVSAAREEVPGRRGFPGYMYTDLATI
                     YERAGRVEGRNGSITQIPILTMPNDDITHPIPDLTGYITEGQIYVDRQLHNRQIYPPI
                     NVLPSLSRLMKSAIGEGMTRKDHADVSNQLYACYAIGKDVQAMKAVVGEEALTSDDLL
                     YLEFLQKFERNFIAQGPYENRTVFETLDIGWQLLRIFPKEMLKRIPQSTLSEFYPRDS
                     AKH"
     exon            163..218
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     exon            219..317
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     exon            318..411
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     exon            412..489
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     exon            490..629
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     exon            630..731
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     exon            732..829
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     exon            830..953
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1104
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1187
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..1292
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1293..1422
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1423..2856
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2829..2834
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /note="hexamer: AATAAA"
     polyA_site      2856
                     /gene="ATP6V1B2"
                     /gene_synonym="ATP6B1B2; ATP6B2; DOOD; HO57; VATB; Vma2;
                     VPP3; ZLS2"
                     /note="major polyA site"
ORIGIN      
        1 gggccagtcg ggacagagga gacaagatgg cgctgcgggc gatgcggggg attgtcaacg
       61 gggccgcacc cgagctaccc gtgcccaccg gtgggccggc ggtgggagct cgggagcagg
      121 cgctggcagt cagtcggaac tacctctccc agcctcgcct cacatacaag acagtatctg
      181 gagtcaatgg tccactagtg atcttagatc atgttaagtt tcccaggtat gctgaaattg
      241 tccatttgac cttaccggat ggcacaaaga gaagtgggca agttctggaa gttagtggtt
      301 ccaaggcagt agttcaggta tttgaaggga cttcaggtat agatgctaag aaaacgtcct
      361 gtgagtttac tggggatatt ctccgaacac cggtgtctga ggatatgctt ggtcgggtat
      421 tcaatggatc gggaaaaccc attgacagag gtcctgttgt actggccgaa gacttccttg
      481 atatcatggg tcagccaatc aaccctcaat gtcgaatcta cccagaggaa atgattcaga
      541 ctggcatttc ggccatcgat gggatgaaca gtattgctag ggggcagaaa attcctatct
      601 tctctgctgc tgggctacca cacaatgaga ttgcagctca gatctgtcgc caggctggtt
      661 tggtaaagaa atccaaagat gtagtagact acagtgagga aaattttgca attgtatttg
      721 ctgctatggg tgtaaacatg gaaactgccc ggttcttcaa atctgacttt gaagaaaatg
      781 gctcaatgga caatgtctgc ctctttttga acttggctaa tgacccaacc attgagcgaa
      841 ttatcactcc tcgcctggct ctaaccacag ctgaatttct ggcgtaccaa tgtgagaaac
      901 atgtattggt tattctaaca gacatgagtt cttatgctga agcacttcga gaggtttcag
      961 cagccaggga agaggtacct ggtcgacgag gttttccagg ttacatgtat acagatttag
     1021 ccacgatata tgaacgcgct gggcgagtgg aagggagaaa cggctcgatt actcaaatcc
     1081 ctattctaac catgcctaat gatgatatca ctcaccccat cccagacttg actggctaca
     1141 ttacagaggg gcagatctat gtggacagac agctgcacaa cagacagatt tatccaccta
     1201 tcaatgtgct gccctcacta tcacggttaa tgaagtctgc tattggagaa gggatgacca
     1261 ggaaggatca tgccgatgta tctaaccagc tatatgcgtg ctatgctatt ggaaaggatg
     1321 tgcaagccat gaaagctgtc gttggagaag aagcccttac ctcagatgat cttctctact
     1381 tggaatttct gcagaagttt gagaggaact tcattgctca gggtccttac gaaaatcgca
     1441 ctgtctttga gactttggac attggctggc agctactccg aatcttcccc aaagaaatgc
     1501 tgaagagaat ccctcagagc accctcagcg aattttaccc tcgagactct gcaaagcatt
     1561 agctgctgct tctgcattgc tccgcgctct tgtgaaatac tggttctgtt ttctttattc
     1621 cttttgcact ctcggttccc acctttgtgt tggagtttac catgttaccc tgtaattaaa
     1681 aacaaagaat aggtaacata ttgtgccagt gttgcaacgt tttaaactgc taacagacct
     1741 taaaatatcc ccctacctgg gtcctcagtg ctatgtttaa agtgctgcag ggatggagtg
     1801 gcgttttctt attgctgtat gtattgtaca tagtggagta gttagttacc tgataacagt
     1861 cttgttattt gggtctctta gaccttacct ctcaactccc tcaagagtac cagtctctga
     1921 agttataatg ctttggtctc tacattaggg gcaagatcca gtctgagaga agtctccttt
     1981 gagaagggcc aagaggctct ttcctgagtg tttgctttcg gtttgttggt atgcctgtat
     2041 tgctgggctg tgctgctgct cgaagcagat ggttttgact gtctttttgc tctttcctat
     2101 ataatgaata gatgagtgaa aggagttttc tttttctctt tagtacttac gtattgggat
     2161 tcctgtgtct tacagctctc cctctccaaa taatacacag aatcctgcaa ctttttgcac
     2221 agctggtatc tgtctggtag cagtgagacc ccttgtcttg gtgatcctta ctgggtttcc
     2281 aagcagagga gtcacatgat tacaattgcc agtagagttg ttgtttgggg tacaagatga
     2341 gaagaaagaa aaacctacag cctttctaca ttctgacatg ctaacagtgg tttaagtttc
     2401 taaagtgttt accagatgct gaaggcaagg ggagggagca gaagcactta tgtttacgga
     2461 tattttaaac tctgttagag agcagccttt gaaaatcccc aatttggttc tgctttttga
     2521 cctctctcta ccttttcagg gtaatctttg tggcacaaac gatagcattt ccaagcttta
     2581 gagttttctg aattcctgcg ccttcctgac gtgagccctg agcgatcttc tatgcagttc
     2641 tgccatgcgt cctgttggtc tctctgtgtt ctttgttact tgggtgcaat agcaacttcc
     2701 ctaccccgtg cattccatct ttcatgttgt gtaaagttct tcactttttt ctctgagggc
     2761 tgggggttgg gggagtcagc atgattatat tttaatgtag aaaatgtgac atctggatat
     2821 aaaatgaaaa taaatgttaa attaaatgga ccttaa
//
