LOCUS       NM_020410               3849 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ATPase 13A1 (ATP13A1), mRNA.
ACCESSION   NM_020410
VERSION     NM_020410.3
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 3849)
  AUTHORS   Ji,J., Cui,M.K., Zou,R., Wu,M.Z., Ge,M.X., Li,J. and Zhang,Z.R.
  TITLE     An ATP13A1-assisted topogenesis pathway for folding multi-spanning
            membrane proteins
  JOURNAL   Mol Cell 84 (10), 1917-1931 (2024)
   PUBMED   38723633
  REMARK    GeneRIF: An ATP13A1-assisted topogenesis pathway for folding
            multi-spanning membrane proteins.
REFERENCE   2  (bases 1 to 3849)
  AUTHORS   Guna,A., Stevens,T.A., Inglis,A.J., Replogle,J.M., Esantsi,T.K.,
            Muthukumar,G., Shaffer,K.C.L., Wang,M.L., Pogson,A.N., Jones,J.J.,
            Lomenick,B., Chou,T.F., Weissman,J.S. and Voorhees,R.M.
  TITLE     MTCH2 is a mitochondrial outer membrane protein insertase
  JOURNAL   Science 378 (6617), 317-322 (2022)
   PUBMED   36264797
REFERENCE   3  (bases 1 to 3849)
  AUTHORS   Kulicke,C.A., De Zan,E., Hein,Z., Gonzalez-Lopez,C., Ghanwat,S.,
            Veerapen,N., Besra,G.S., Klenerman,P., Christianson,J.C.,
            Springer,S., Nijman,S.M., Cerundolo,V. and Salio,M.
  TITLE     The P5-type ATPase ATP13A1 modulates major histocompatibility
            complex I-related protein 1 (MR1)-mediated antigen presentation
  JOURNAL   J Biol Chem 298 (2), 101542 (2022)
   PUBMED   34968463
  REMARK    GeneRIF: The P5-type ATPase ATP13A1 modulates major
            histocompatibility complex I-related protein 1 (MR1)-mediated
            antigen presentation.
REFERENCE   4  (bases 1 to 3849)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 3849)
  AUTHORS   McKenna,M.J., Sim,S.I., Ordureau,A., Wei,L., Harper,J.W., Shao,S.
            and Park,E.
  TITLE     The endoplasmic reticulum P5A-ATPase is a transmembrane helix
            dislocase
  JOURNAL   Science 369 (6511) (2020)
   PUBMED   32973005
  REMARK    GeneRIF: The endoplasmic reticulum P5A-ATPase is a transmembrane
            helix dislocase.
REFERENCE   6  (bases 1 to 3849)
  AUTHORS   Cornelis,M.C., Fornage,M., Foy,M., Xun,P., Gladyshev,V.N.,
            Morris,S., Chasman,D.I., Hu,F.B., Rimm,E.B., Kraft,P., Jordan,J.M.,
            Mozaffarian,D. and He,K.
  TITLE     Genome-wide association study of selenium concentrations
  JOURNAL   Hum Mol Genet 24 (5), 1469-1477 (2015)
   PUBMED   25343990
REFERENCE   7  (bases 1 to 3849)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   8  (bases 1 to 3849)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   9  (bases 1 to 3849)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 3849)
  AUTHORS   Liu,T., Qian,W.J., Gritsenko,M.A., Camp,D.G. 2nd, Monroe,M.E.,
            Moore,R.J. and Smith,R.D.
  TITLE     Human plasma N-glycoproteome analysis by immunoaffinity
            subtraction, hydrazide chemistry, and mass spectrometry
  JOURNAL   J Proteome Res 4 (6), 2070-2080 (2005)
   PUBMED   16335952
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA103408.1, AB058728.1 and BC009302.2.
            
            On Nov 22, 2018 this sequence version replaced NM_020410.2.
            
            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 :: AK056420.1, AB058728.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357324.11/ ENSP00000349877.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                DA103408.1         19-30
            13-3844             AB058728.1         1-3832
            3845-3849           BC009302.2         1307-1311
FEATURES             Location/Qualifiers
     source          1..3849
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..3849
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /note="ATPase 13A1"
                     /db_xref="GeneID:57130"
                     /db_xref="HGNC:HGNC:24215"
                     /db_xref="MIM:619118"
     exon            1..406
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     CDS             11..3625
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /EC_number="7.2.2.10"
                     /note="cation transporting ATPase; probable
                     cation-transporting ATPase 13A1; endoplasmic reticulum
                     P5A-ATPase; manganese-transporting ATPase 13A1; ATPase
                     type 13A1"
                     /codon_start=1
                     /product="endoplasmic reticulum transmembrane helix
                     translocase"
                     /protein_id="NP_065143.2"
                     /db_xref="CCDS:CCDS32970.2"
                     /db_xref="GeneID:57130"
                     /db_xref="HGNC:HGNC:24215"
                     /db_xref="MIM:619118"
                     /translation="MAAAAAVGNAVPCGARPCGVRPDGQPKPGPQPRALLAAGPALIA
                     NGDELVAAVWPYRRLALLRRLTVLPFAGLLYPAWLGAAAAGCWGWGSSWVQIPEAALL
                     VLATICLAHALTVLSGHWSVHAHCALTCTPEYDPSKATFVKVVPTPNNGSTELVALHR
                     NEGEDGLEVLSFEFQKIKYSYDALEKKQFLPVAFPVGNAFSYYQSNRGFQEDSEIRAA
                     EKKFGSNKAEMVVPDFSELFKERATAPFFVFQVFCVGLWCLDEYWYYSVFTLSMLVAF
                     EASLVQQQMRNMSEIRKMGNKPHMIQVYRSRKWRPIASDEIVPGDIVSIGRSPQENLV
                     PCDVLLLRGRCIVDEAMLTGESVPQMKEPIEDLSPDRVLDLQADSRLHVIFGGTKVVQ
                     HIPPQKATTGLKPVDSGCVAYVLRTGFNTSQGKLLRTILFGVKRVTANNLETFIFILF
                     LLVFAIAAAAYVWIEGTKDPSRNRYKLFLECTLILTSVVPPELPIELSLAVNTSLIAL
                     AKLYMYCTEPFRIPFAGKVEVCCFDKTGTLTSDSLVVRGVAGLRDGKEVTPVSSIPVE
                     THRALASCHSLMQLDDGTLVGDPLEKAMLTAVDWTLTKDEKVFPRSIKTQGLKIHQRF
                     HFASALKRMSVLASYEKLGSTDLCYIAAVKGAPETLHSMFSQCPPDYHHIHTEISREG
                     ARVLALGYKELGHLTHQQAREVKREALECSLKFVGFIVVSCPLKADSKAVIREIQNAS
                     HRVVMITGDNPLTACHVAQELHFIEKAHTLILQPPSEKGRQCEWRSIDGSIVLPLARG
                     SPKALALEYALCLTGDGLAHLQATDPQQLLRLIPHVQVFARVAPKQKEFVITSLKELG
                     YVTLMCGDGTNDVGALKHADVGVALLANAPERVVERRRRPRDSPTLSNSGIRATSRTA
                     KQRSGLPPSEEQPTSQRDRLSQVLRDLEDESTPIVKLGDASIAAPFTSKLSSIQCICH
                     VIKQGRCTLVTTLQMFKILALNALILAYSQSVLYLEGVKFSDFQATLQGLLLAGCFLF
                     ISRSKPLKTLSRERPLPNIFNLYTILTVMLQFFVHFLSLVYLYREAQARSPEKQEQFV
                     DLYKEFEPSLVNSTVYIMAMAMQMATFAINYKGPPFMESLPENKPLVWSLAVSLLAII
                     GLLLGSSPDFNSQFGLVDIPVEFKLVIAQVLLLDFCLALLADRVLQFFLGTPKLKVPS
                     "
     exon            407..496
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            497..687
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            688..760
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            761..916
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            917..986
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1093
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1223
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            1224..1279
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1406
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            1407..1544
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            1545..1665
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            1666..1823
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            1824..1999
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            2000..2110
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            2111..2236
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            2237..2345
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            2346..2545
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            2546..2642
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            2643..2803
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            2804..2918
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            2919..3115
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            3116..3258
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            3259..3370
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            3371..3514
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     exon            3515..3849
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3822..3827
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /note="hexamer: AATAAA"
     polyA_site      3849
                     /gene="ATP13A1"
                     /gene_synonym="ATP13A; CGI-152"
                     /note="major polyA site"
ORIGIN      
        1 gctaggaaag atggcggcag cggcggcggt gggcaacgcg gtgccctgcg gggcccggcc
       61 ttgcggggtc cggcctgacg ggcagcccaa gcccgggccg cagccgcgcg cgctccttgc
      121 cgccgggccg gcgctcatag cgaacggtga cgagctggtg gctgccgtgt ggccgtaccg
      181 gcggttggcg ctgttgcggc gcctcacggt gctgccattc gccgggctgc tttacccggc
      241 ctggttgggt gccgcagccg ctggctgctg gggctggggc agcagttggg tgcagatccc
      301 cgaagctgcg ctgctcgtgc ttgccaccat ctgcctcgcg cacgcgctca ctgtcctctc
      361 ggggcattgg tctgtgcacg cgcattgcgc gctcacctgc accccggagt acgaccccag
      421 caaagcgacc tttgtgaagg tggtgccaac ccccaacaat ggctccacgg agctcgtggc
      481 cctgcaccgc aatgagggcg aagacgggct tgaggtgctg tccttcgaat tccagaagat
      541 caagtattcc tacgatgccc tggagaagaa gcagtttctc cccgtggcct ttcctgtggg
      601 aaacgccttc tcatactatc agagcaacag aggcttccag gaagactcag agatccgagc
      661 agctgagaag aaatttggga gcaacaaggc cgagatggtg gtgcctgact tctcggagct
      721 tttcaaggag agagccacag cccccttctt tgtatttcag gtgttctgtg tggggctctg
      781 gtgcctggat gagtactggt actacagcgt ctttacgcta tccatgctgg tggcgttcga
      841 ggcctcgctg gtgcagcagc agatgcggaa catgtcggag atccggaaga tgggcaacaa
      901 gccccacatg atccaggtct accgaagccg caagtggagg cccattgcca gtgatgagat
      961 cgtaccaggg gacatcgtct ccatcggccg ctccccacag gagaacctgg tgccatgtga
     1021 cgtgcttctg ctgcgaggcc gctgcatcgt agacgaggcc atgctcacgg gggagtccgt
     1081 gccacagatg aaggagccca tcgaagacct cagcccagac cgggtgctgg acctccaggc
     1141 tgattcccgg ctgcacgtca tcttcggggg caccaaggtg gtgcagcaca tccccccaca
     1201 gaaagccacc acgggcctga agccggttga cagcgggtgc gtggcctacg tcctgcggac
     1261 cggattcaac acatcccagg gcaagctgct gcgcaccatc ctcttcgggg tcaagagggt
     1321 gactgcgaac aacctggaga ccttcatctt catcctcttc ctcctggtgt ttgccatcgc
     1381 tgcagctgcc tatgtatgga ttgaaggtac caaggacccc agccggaacc gctacaagct
     1441 gtttctggag tgcaccctga tcctcacctc ggtcgtgcct cctgagctgc ccatcgagct
     1501 gtccctggcc gtcaacacct ccctcatcgc cctggccaag ctctacatgt actgcacaga
     1561 gcccttccgg atcccctttg ctggcaaggt cgaggtgtgc tgctttgaca agacggggac
     1621 gttgaccagt gacagcctgg tggtgcgcgg tgtggccggg ctgagagacg ggaaggaggt
     1681 gaccccagtg tccagcatcc ctgtagaaac acaccgggcc ctggcctcgt gccactcgct
     1741 catgcagctg gacgacggca ccctcgtggg tgaccctcta gagaaggcca tgctgacggc
     1801 cgtggactgg acgctgacca aagatgagaa agtattcccc cgaagtatta aaactcaggg
     1861 gctgaaaatt caccagcgct ttcattttgc cagtgccctg aagcgaatgt ccgtgcttgc
     1921 ctcgtatgag aagctgggct ccaccgacct ctgctacatc gcggccgtga agggggcccc
     1981 cgaaactctg cactccatgt tctcccagtg cccgcccgac taccaccaca tccacaccga
     2041 gatctcccgg gaaggagccc gcgtcctggc gctggggtac aaggagctgg gacacctcac
     2101 tcaccagcag gcccgggagg tcaagcggga ggccctggag tgcagcctca agttcgtcgg
     2161 cttcattgtg gtctcctgcc cgctcaaggc tgactccaag gccgtgatcc gggagatcca
     2221 gaatgcgtcc caccgggtgg tcatgatcac gggagacaac ccgctcactg catgccacgt
     2281 ggcccaggag ctgcacttca ttgaaaaggc ccacacgctg atcctgcagc ctccctccga
     2341 gaaaggccgg cagtgcgagt ggcgctccat tgacggcagc atcgtgctgc ccctggcccg
     2401 gggctcccca aaggcactgg ccctggagta cgcactgtgc ctcacaggcg acggcttggc
     2461 ccacctgcag gccaccgacc cccagcagct gctccgcctc atcccccatg tgcaggtgtt
     2521 cgcccgtgtg gctcccaagc agaaggagtt tgtcatcacc agcctgaagg agctgggcta
     2581 cgtgaccctc atgtgtgggg atggcaccaa cgacgtgggc gccctgaagc atgctgacgt
     2641 gggtgtggcg ctcttggcca atgcccctga gcgggttgtc gagcggcgac ggcggccccg
     2701 ggacagccca accctgagca acagtggcat cagagccacc tccaggacag ccaagcagcg
     2761 gtcggggctc cctccctccg aggagcagcc aacctcccag agggaccgcc tgagccaggt
     2821 gctgcgagac ctcgaggacg agagtacgcc cattgtgaaa ctgggggatg ccagcatcgc
     2881 agcacccttc acctccaagc tctcatccat ccagtgcatc tgccacgtga tcaagcaggg
     2941 ccgctgcacg ctggtgacca cgctacagat gttcaagatc ctggcgctca atgccctcat
     3001 cctggcctac agccagagcg tcctctacct ggagggagtc aagttcagtg acttccaggc
     3061 caccctacag gggctgctgc tggccggctg cttcctcttc atctcccgtt ccaagcccct
     3121 caagaccctc tcccgagaac ggcccctgcc caacatcttc aacctgtaca ccatcctcac
     3181 cgtcatgctc cagttctttg tgcacttcct gagccttgtc tacctgtacc gtgaggccca
     3241 ggcccggagc cccgagaagc aggagcagtt cgtggacttg tacaaggagt ttgagccaag
     3301 cctggtcaac agcaccgtct acatcatggc catggccatg cagatggcca ccttcgccat
     3361 caattacaaa ggcccgccct tcatggagag cctgcccgag aacaagcccc tggtgtggag
     3421 tctggcagtt tcactcctgg ccatcattgg cctgctcctc ggctcctcgc ccgacttcaa
     3481 cagccagttt ggcctcgtgg acatccctgt ggagttcaag ctggtcattg cccaggtcct
     3541 gctcctggac ttctgcctgg cgctcctggc cgaccgcgtc ctgcagttct tcctggggac
     3601 cccgaagctg aaagtgcctt cctgagatgg cagtgctggt acccactgcc caccctggct
     3661 gccgctgggc gggaacccca acagggcccc gggagggaac cctgccccca accccccaca
     3721 gcaaggctgt acagtctcgc ccttggaaga ctgagctggg acccccacag ccatccgctg
     3781 gcttggccag cagaaccagc cccaagccag cacctttggt aaataaagca gcatctgaga
     3841 ttttaaaaa
//
