LOCUS       NM_001183               2054 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens ATPase H+ transporting accessory protein 1 (ATP6AP1),
            mRNA.
ACCESSION   NM_001183
VERSION     NM_001183.6
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 2054)
  AUTHORS   Morales-Romero,B., Munoz-Pujol,G., Artuch,R., Garcia-Cazorla,A.,
            O'Callaghan,M., Sykut-Cegielska,J., Campistol,J.,
            Moreno-Lozano,P.J., Oud,M.M., Wevers,R.A., Lefeber,D.J.,
            Esteve-Codina,A., Yepez,V.A., Gagneur,J., Wortmann,S.B.,
            Prokisch,H., Ribes,A., Garcia-Villoria,J. and Tort,F.
  TITLE     Genome and RNA sequencing were essential to reveal cryptic intronic
            variants associated to defective ATP6AP1 mRNA processing
  JOURNAL   Mol Genet Metab 142 (3), 108511 (2024)
   PUBMED   38878498
  REMARK    GeneRIF: Genome and RNA sequencing were essential to reveal cryptic
            intronic variants associated to defective ATP6AP1 mRNA processing.
REFERENCE   2  (bases 1 to 2054)
  AUTHORS   Zhang,S., Wang,Y., Zhang,X., Wang,M., Wu,H., Tao,Y., Fan,W.,
            Liu,L., Wang,B. and Gao,W.
  TITLE     ATP6AP1 as a potential prognostic biomarker in CRC by comprehensive
            analysis and verification
  JOURNAL   Sci Rep 14 (1), 4018 (2024)
   PUBMED   38369634
  REMARK    GeneRIF: ATP6AP1 as a potential prognostic biomarker in CRC by
            comprehensive analysis and verification.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2054)
  AUTHORS   Barua,S., Berger,S., Pereira,E.M. and Jobanputra,V.
  TITLE     Expanding the phenotype of ATP6AP1 deficiency
  JOURNAL   Cold Spring Harb Mol Case Stud 8 (4), a006195 (2022)
   PUBMED   35732497
  REMARK    GeneRIF: Expanding the phenotype of ATP6AP1 deficiency.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2054)
  AUTHORS   Sun,X., Liu,Y., Huang,Z., Xu,W., Hu,W., Yi,L., Liu,Z., Chan,H.,
            Zeng,J., Liu,X., Chen,H., Yu,J., Chan,F.K.L., Ng,S.C., Wong,S.H.,
            Wang,M.H., Gin,T., Joynt,G.M., Hui,D.S.C., Zou,X., Shu,Y.,
            Cheng,C.H.K., Fang,S., Luo,H., Lu,J., Chan,M.T.V., Zhang,L. and
            Wu,W.K.K.
  TITLE     SARS-CoV-2 non-structural protein 6 triggers NLRP3-dependent
            pyroptosis by targeting ATP6AP1
  JOURNAL   Cell Death Differ 29 (6), 1240-1254 (2022)
   PUBMED   34997207
  REMARK    GeneRIF: SARS-CoV-2 non-structural protein 6 triggers
            NLRP3-dependent pyroptosis by targeting ATP6AP1.
REFERENCE   5  (bases 1 to 2054)
  AUTHORS   Chen,Z., Wang,C., Feng,X., Nie,L., Tang,M., Zhang,H., Xiong,Y.,
            Swisher,S.K., Srivastava,M. and Chen,J.
  TITLE     Interactomes of SARS-CoV-2 and human coronaviruses reveal host
            factors potentially affecting pathogenesis
  JOURNAL   EMBO J 40 (17), e107776 (2021)
   PUBMED   34232536
REFERENCE   6  (bases 1 to 2054)
  AUTHORS   Finbow,M.E. and Harrison,M.A.
  TITLE     The vacuolar H+-ATPase: a universal proton pump of eukaryotes
  JOURNAL   Biochem J 324 (Pt 3) (Pt 3), 697-712 (1997)
   PUBMED   9210392
  REMARK    Review article
REFERENCE   7  (bases 1 to 2054)
  AUTHORS   Chen,E.Y., Zollo,M., Mazzarella,R., Ciccodicola,A., Chen,C.N.,
            Zuo,L., Heiner,C., Burough,F., Repetto,M., Schlessinger,D. and
            D'Urso,M.
  TITLE     Long-range sequence analysis in Xq28: thirteen known and six
            candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and
            G6PD loci
  JOURNAL   Hum Mol Genet 5 (5), 659-668 (1996)
   PUBMED   8733135
REFERENCE   8  (bases 1 to 2054)
  AUTHORS   Yokoi,H., Hadano,S., Kogi,M., Kang,X., Wakasa,K. and Ikeda,J.E.
  TITLE     Isolation of expressed sequences encoded by the human Xq terminal
            portion using microclone probes generated by laser microdissection
  JOURNAL   Genomics 20 (3), 404-411 (1994)
   PUBMED   8034313
REFERENCE   9  (bases 1 to 2054)
  AUTHORS   Bione,S., Tamanini,F., Maestrini,E., Tribioli,C., Poustka,A.,
            Torri,G., Rivella,S. and Toniolo,D.
  TITLE     Transcriptional organization of a 450-kb region of the human X
            chromosome in Xq28
  JOURNAL   Proc Natl Acad Sci U S A 90 (23), 10977-10981 (1993)
   PUBMED   8248200
REFERENCE   10 (bases 1 to 2054)
  AUTHORS   Sedlacek,Z., Korn,B., Konecki,D.S., Siebenhaar,R., Coy,J.F.,
            Kioschis,P. and Poustka,A.
  TITLE     Construction of a transcription map of a 300 kb region around the
            human G6PD locus by direct cDNA selection
  JOURNAL   Hum Mol Genet 2 (11), 1865-1869 (1993)
   PUBMED   8281148
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK289452.1 and AK075284.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001183.5.
            
            Summary: This gene encodes a component of a multisubunit enzyme
            that mediates acidification of eukaryotic intracellular organelles.
            Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of
            the ATP catalytic site) and a transmembrane V0 domain. V-ATPase
            dependent organelle acidification is necessary for such
            intracellular processes as protein sorting, zymogen activation, and
            receptor-mediated endocytosis. The encoded protein of this gene may
            assist in the V-ATPase-mediated acidification of neuroendocrine
            secretory granules. This protein may also play a role in early
            development. [provided by RefSeq, Aug 2013].
            
            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 :: AK075284.1, SRR3476690.1157456.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369762.7/ ENSP00000358777.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1545              AK289452.1         40-1584
            1546-2054           AK075284.1         1555-2063
FEATURES             Location/Qualifiers
     source          1..2054
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..2054
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /note="ATPase H+ transporting accessory protein 1"
                     /db_xref="GeneID:537"
                     /db_xref="HGNC:HGNC:868"
                     /db_xref="MIM:300197"
     exon            1..177
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             17..1429
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /EC_number="7.1.2.2"
                     /note="H-ATPase subunit; epididymis secretory sperm
                     binding protein; ATPase, H+ transporting, lysosomal
                     (vacuolar proton pump), subunit 1; ATPase, H+
                     transporting, lysosomal interacting protein 1; V-ATPase S1
                     accessory protein; V-type proton ATPase subunit S1;
                     V-ATPase subunit S1; V-ATPase Ac45 subunit; ATPase, H+
                     transporting, lysosomal accessory protein 1; vacuolar
                     proton pump subunit S1; protein XAP-3; vacuolar ATPase
                     subunit S1; X-associated protein 3"
                     /codon_start=1
                     /product="V-type proton ATPase subunit S1 precursor"
                     /protein_id="NP_001174.2"
                     /db_xref="CCDS:CCDS35451.1"
                     /db_xref="GeneID:537"
                     /db_xref="HGNC:HGNC:868"
                     /db_xref="MIM:300197"
                     /translation="MMAAMATARVRMGPRCAQALWRMPWLPVFLSLAAAAAAAAAEQQ
                     VPLVLWSSDRDLWAPAADTHEGHITSDLQLSTYLDPALELGPRNVLLFLQDKLSIEDF
                     TAYGGVFGNKQDSAFSNLENALDLAPSSLVLPAVDWYAVSTLTTYLQEKLGASPLHVD
                     LATLRELKLNASLPALLLIRLPYTASSGLMAPREVLTGNDEVIGQVLSTLKSEDVPYT
                     AALTAVRPSRVARDVAVVAGGLGRQLLQKQPVSPVIHPPVSYNDTAPRILFWAQNFSV
                     AYKDQWEDLTPLTFGVQELNLTGSFWNDSFARLSLTYERLFGTTVTFKFILANRLYPV
                     SARHWFTMERLEVHSNGSVAYFNASQVTGPSIYSFHCEYVSSLSKKGSLLVARTQPSP
                     WQMMLQDFQIQAFNVMGEQFSYASDCASFFSPGIWMGLLTSLFMLFIFTYGLHMILSL
                     KTMDRFDDHKGPTISLTQIV"
     exon            178..304
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /inference="alignment:Splign:2.1.0"
     exon            305..379
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /inference="alignment:Splign:2.1.0"
     exon            380..573
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /inference="alignment:Splign:2.1.0"
     exon            574..614
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /inference="alignment:Splign:2.1.0"
     exon            615..700
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /inference="alignment:Splign:2.1.0"
     exon            701..939
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /inference="alignment:Splign:2.1.0"
     exon            940..987
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1219
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1220..2054
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2034..2039
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /note="hexamer: AATAAA"
     polyA_site      2054
                     /gene="ATP6AP1"
                     /gene_synonym="16A; Ac45; ATP6IP1; ATP6S1; CF2; VATPS1;
                     XAP-3; XAP3"
                     /note="major polyA site"
ORIGIN      
        1 agtggaggct gaggctatga tggcggccat ggcgacggct cgagtgcgga tggggccgcg
       61 gtgcgcccag gcgctctggc gcatgccgtg gctgccggtg tttttgtcgt tggcggcggc
      121 ggcggcggcg gcagcggcgg agcagcaggt cccgctggtg ctgtggtcga gtgaccggga
      181 cttgtgggct cctgcggccg acactcatga aggccacatc accagcgact tgcagctctc
      241 tacctactta gatcccgccc tggagctggg tcccaggaat gtgctgctgt tcctgcagga
      301 caagctgagc attgaggatt tcacagcata tggcggtgtg tttggaaaca agcaggacag
      361 cgccttttct aacctagaga atgccctgga cctggccccc tcctcactgg tgcttcctgc
      421 cgtcgactgg tatgcagtca gcactctgac cacttacctg caggagaagc tcggggccag
      481 ccccttgcat gtggacctgg ccaccctgcg ggagctgaag ctcaatgcca gcctccctgc
      541 tctgctgctc attcgcctgc cctacacagc cagctctggt ctgatggcac ccagggaagt
      601 cctcacaggc aacgatgagg tcatcgggca ggtcctgagc acactcaagt ccgaagatgt
      661 cccatacaca gcggccctca cagcggtccg cccttccagg gtggcccgtg atgtagccgt
      721 ggtggccgga gggctaggtc gccagctgct acaaaaacag ccagtatcac ctgtgatcca
      781 tcctcctgtg agttacaatg acaccgctcc ccggatcctg ttctgggccc aaaacttctc
      841 tgtggcgtac aaggaccagt gggaggacct gactcccctc acctttgggg tgcaggaact
      901 caacctgact ggctccttct ggaatgactc ctttgccagg ctctcactga cctatgaacg
      961 actctttggt accacagtga cattcaagtt cattctggcc aaccgcctct acccagtgtc
     1021 tgcccggcac tggtttacca tggagcgcct cgaagtccac agcaatggct ccgtcgccta
     1081 cttcaatgct tcccaggtca cagggcccag catctactcc ttccactgcg agtatgtcag
     1141 cagcctgagc aagaagggta gtctcctcgt ggcccgcacg cagccctctc cctggcagat
     1201 gatgcttcag gacttccaga tccaggcttt caacgtaatg ggggagcagt tctcctacgc
     1261 cagcgactgt gccagcttct tctcccccgg catctggatg gggctgctca cctccctgtt
     1321 catgctcttc atcttcacct atggcctgca catgatcctc agcctcaaga ccatggatcg
     1381 ctttgatgac cacaagggcc ccactatttc tttgacccag attgtgtgac cctgtgccag
     1441 tgggggggtt gagggtggga cggtgtccgt gttgttgctt tcccaccctg cagcgcactg
     1501 gactgaagag cttccctctt cctactgcag catgaactgc aagctcccct cagcccatct
     1561 tgctccctct tcagcccgct gaggagcttt cttgggctgc ccccatctct cccaacaagg
     1621 tgtacatatt ctgcgtagat gctagaccaa ccagcttccc agggttcgtc gctgtgaggc
     1681 gtaagggaca tgaattctag ggtctccttt ctccttattt attcttgtgg ctacatcatc
     1741 cctggctgtg gatagtgctt ttgtgtagca aatgctccct ccttaaggtt atagggctcc
     1801 ctgagtttgg gagtgtggaa gtactactta actgtctgtc ctgcttggct gtcgttatcg
     1861 ttttctggtg atgttgtgct aacaataaga agtacacggg tttatttctg tggcctgaga
     1921 aggaagggac ctccacgaca ggtgggctgg gtgcgatcgc cggctgtttg gcatgttccc
     1981 accgggagtg ccgggcagga gcatggggtg cttggttgtt tccttcctaa taaaataaac
     2041 gcgggtcgcc atgc
//
