LOCUS       NM_004317               1275 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens guided entry of tail-anchored proteins factor 3,
            ATPase (GET3), transcript variant 1, mRNA.
ACCESSION   NM_004317
VERSION     NM_004317.4
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 1275)
  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   2  (bases 1 to 1275)
  AUTHORS   McDowell,M.A., Heimes,M., Fiorentino,F., Mehmood,S., Farkas,A.,
            Coy-Vergara,J., Wu,D., Bolla,J.R., Schmid,V., Heinze,R., Wild,K.,
            Flemming,D., Pfeffer,S., Schwappach,B., Robinson,C.V. and
            Sinning,I.
  TITLE     Structural Basis of Tail-Anchored Membrane Protein Biogenesis by
            the GET Insertase Complex
  JOURNAL   Mol Cell 80 (1), 72-86 (2020)
   PUBMED   32910895
REFERENCE   3  (bases 1 to 1275)
  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   4  (bases 1 to 1275)
  AUTHORS   Verhagen,J.M.A., van den Born,M., van der Linde,H.C., G J
            Nikkels,P., Verdijk,R.M., Kivlen,M.H., van Unen,L.M.A., Baas,A.F.,
            Ter Heide,H., van Osch-Gevers,L., Hoogeveen-Westerveld,M.,
            Herkert,J.C., Bertoli-Avella,A.M., van Slegtenhorst,M.A.,
            Wessels,M.W., Verheijen,F.W., Hassel,D., Hofstra,R.M.W.,
            Hegde,R.S., van Hasselt,P.M., van Ham,T.J. and van de Laar,I.M.B.H.
  TITLE     Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor
            of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric
            Cardiomyopathy
  JOURNAL   Circ Genom Precis Med 12 (9), 397-406 (2019)
   PUBMED   31461301
  REMARK    GeneRIF: Mutation in ASNA1 cause severe pediatric cardiomyopathy
            and early death.
            Erratum:[Circ Genom Precis Med. 2020 Jun;13(3):e000065. doi:
            10.1161/HCG.0000000000000065.. PMID: 32543991]
REFERENCE   5  (bases 1 to 1275)
  AUTHORS   Coy-Vergara,J., Rivera-Monroy,J., Urlaub,H., Lenz,C. and
            Schwappach,B.
  TITLE     A trap mutant reveals the physiological client spectrum of TRC40
  JOURNAL   J Cell Sci 132 (13) (2019)
   PUBMED   31182645
  REMARK    GeneRIF: Golgi-resident tail-anchored proteins such as the golgins
            golgin-84, CASP and giantin as well as the vesicle-associated
            membrane-protein-associated proteins VAPA and VAPB interact with
            TRC40.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1275)
  AUTHORS   Kao,G., Nordenson,C., Still,M., Ronnlund,A., Tuck,S. and Naredi,P.
  TITLE     ASNA-1 positively regulates insulin secretion in C. elegans and
            mammalian cells
  JOURNAL   Cell 128 (3), 577-587 (2007)
   PUBMED   17289575
  REMARK    GeneRIF: Human ASNA1 is highly expressed in pancreatic beta cells,
            but not in other pancreatic endocrine cell types, and regulates
            insulin secretion in cultured cells.
REFERENCE   7  (bases 1 to 1275)
  AUTHORS   Kurdi-Haidar,B., Hom,D.K., Flittner,D.E., Heath,D., Fink,L.,
            Naredi,P. and Howell,S.B.
  TITLE     Dual cytoplasmic and nuclear distribution of the novel
            arsenite-stimulated human ATPase (hASNA-I)
  JOURNAL   J Cell Biochem 71 (1), 1-10 (1998)
   PUBMED   9736449
REFERENCE   8  (bases 1 to 1275)
  AUTHORS   Kurdi-Haidar,B., Heath,D., Lennon,G. and Howell,S.B.
  TITLE     Chromosomal localization and genomic structure of the human
            arsenite-stimulated ATPase (hASNA-I)
  JOURNAL   Somat Cell Mol Genet 24 (5), 307-311 (1998)
   PUBMED   10696239
REFERENCE   9  (bases 1 to 1275)
  AUTHORS   Kurdi-Haidar,B., Heath,D., Aebi,S. and Howell,S.B.
  TITLE     Biochemical characterization of the human arsenite-stimulated
            ATPase (hASNA-I)
  JOURNAL   J Biol Chem 273 (35), 22173-22176 (1998)
   PUBMED   9712828
REFERENCE   10 (bases 1 to 1275)
  AUTHORS   Kurdi-Haidar,B., Aebi,S., Heath,D., Enns,R.E., Naredi,P., Hom,D.K.
            and Howell,S.B.
  TITLE     Isolation of the ATP-binding human homolog of the arsA component of
            the bacterial arsenite transporter
  JOURNAL   Genomics 36 (3), 486-491 (1996)
   PUBMED   8884272
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM718941.1 and BC002651.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 11, 2019 this sequence version replaced NM_004317.3.
            
            Summary: This gene represents the human homolog of the bacterial
            arsA gene, encoding the arsenite-stimulated ATPase component of the
            arsenite transporter responsible for resistance to arsenicals. This
            protein is also a central component of a transmembrane domain (TMD)
            recognition complex (TRC) that is involved in the
            post-translational delivery of tail-anchored (TA) proteins from the
            cytosol to the endoplasmic reticulum (ER). It recognizes and
            selectively binds the TMD of TA proteins in the cytosol, and
            delivers them to the ER for insertion. [provided by RefSeq, Oct
            2011].
            
            Transcript Variant: Variants 1, 2 and 3 encode the same protein.
            
            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 :: BC002651.2, AK223363.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357332.8/ ENSP00000349887.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-116               BM718941.1         48-163
            117-1275            BC002651.2         109-1267
FEATURES             Location/Qualifiers
     source          1..1275
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     gene            1..1275
                     /gene="GET3"
                     /gene_synonym="ARSA-I; ARSA1; ASNA-I; ASNA1; CMD2H; TRC40"
                     /note="guided entry of tail-anchored proteins factor 3,
                     ATPase"
                     /db_xref="GeneID:439"
                     /db_xref="HGNC:HGNC:752"
                     /db_xref="MIM:601913"
     exon            1..170
                     /gene="GET3"
                     /gene_synonym="ARSA-I; ARSA1; ASNA-I; ASNA1; CMD2H; TRC40"
                     /inference="alignment:Splign:2.1.0"
     CDS             10..1056
                     /gene="GET3"
                     /gene_synonym="ARSA-I; ARSA1; ASNA-I; ASNA1; CMD2H; TRC40"
                     /EC_number="7.3.2.7"
                     /note="golgi to ER traffic 3 homolog; transmembrane domain
                     recognition complex 40 kDa ATPase subunit; arsA arsenite
                     transporter, ATP-binding, homolog 1"
                     /codon_start=1
                     /product="ATPase GET3"
                     /protein_id="NP_004308.2"
                     /db_xref="CCDS:CCDS32920.1"
                     /db_xref="GeneID:439"
                     /db_xref="HGNC:HGNC:752"
                     /db_xref="MIM:601913"
                     /translation="MAAGVAGWGVEAEEFEDAPDVEPLEPTLSNIIEQRSLKWIFVGG
                     KGGVGKTTCSCSLAVQLSKGRESVLIISTDPAHNISDAFDQKFSKVPTKVKGYDNLFA
                     MEIDPSLGVAELPDEFFEEDNMLSMGKKMMQEAMSAFPGIDEAMSYAEVMRLVKGMNF
                     SVVVFDTAPTGHTLRLLNFPTIVERGLGRLMQIKNQISPFISQMCNMLGLGDMNADQL
                     ASKLEETLPVIRSVSEQFKDPEQTTFICVCIAEFLSLYETERLIQELAKCKIDTHNII
                     VNQLVFPDPEKPCKMCEARHKIQAKYLDQMEDLYEDFHIVKLPLLPHEVRGADKVNTF
                     SALLLEPYKPPSAQ"
     exon            171..318
                     /gene="GET3"
                     /gene_synonym="ARSA-I; ARSA1; ASNA-I; ASNA1; CMD2H; TRC40"
                     /inference="alignment:Splign:2.1.0"
     exon            319..467
                     /gene="GET3"
                     /gene_synonym="ARSA-I; ARSA1; ASNA-I; ASNA1; CMD2H; TRC40"
                     /inference="alignment:Splign:2.1.0"
     exon            468..618
                     /gene="GET3"
                     /gene_synonym="ARSA-I; ARSA1; ASNA-I; ASNA1; CMD2H; TRC40"
                     /inference="alignment:Splign:2.1.0"
     exon            619..726
                     /gene="GET3"
                     /gene_synonym="ARSA-I; ARSA1; ASNA-I; ASNA1; CMD2H; TRC40"
                     /inference="alignment:Splign:2.1.0"
     exon            727..924
                     /gene="GET3"
                     /gene_synonym="ARSA-I; ARSA1; ASNA-I; ASNA1; CMD2H; TRC40"
                     /inference="alignment:Splign:2.1.0"
     exon            925..1275
                     /gene="GET3"
                     /gene_synonym="ARSA-I; ARSA1; ASNA-I; ASNA1; CMD2H; TRC40"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1255..1260
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GET3"
                     /gene_synonym="ARSA-I; ARSA1; ASNA-I; ASNA1; CMD2H; TRC40"
                     /note="hexamer: AATAAA"
     polyA_site      1275
                     /gene="GET3"
                     /gene_synonym="ARSA-I; ARSA1; ASNA-I; ASNA1; CMD2H; TRC40"
                     /note="major polyA site"
ORIGIN      
        1 agttccaaaa tggcggcagg ggtggccggg tggggggttg aggcagagga gttcgaagat
       61 gctcctgatg tggagccgct ggagcctaca cttagcaaca tcatcgagca gcgcagcctg
      121 aagtggatct tcgtcggggg caagggtggt gtgggcaaga ccacctgcag ctgcagcctg
      181 gcagtccagc tctccaaggg gcgtgagagt gttctgatca tctccacaga cccagcacac
      241 aacatctcag atgcttttga ccagaagttc tcaaaggtgc ctaccaaggt caaaggctat
      301 gacaacctct ttgctatgga gattgacccc agcctgggcg tggcggagct gcctgacgag
      361 ttcttcgagg aggacaacat gctgagcatg ggcaagaaga tgatgcagga ggccatgagc
      421 gcatttcccg gcatcgatga ggccatgagc tatgccgagg tcatgaggct ggtgaagggc
      481 atgaacttct cggtggtggt atttgacacg gcacccacgg gccacaccct gaggctgctc
      541 aacttcccca ccatcgtgga gcggggcctg ggccggctta tgcagatcaa gaaccagatc
      601 agccctttca tctcacagat gtgcaacatg ctgggcctgg gggacatgaa cgcagaccag
      661 ctggcctcca agctggagga gacgctgccc gtcatccgct cagtcagcga acagttcaag
      721 gaccctgagc agacaacttt catctgcgta tgcattgctg agttcctgtc cctgtatgag
      781 acagagaggc tgatccagga gctggccaag tgcaagattg acacacacaa tataattgtc
      841 aaccagctcg tcttccccga ccccgagaag ccctgcaaga tgtgtgaggc ccgtcacaag
      901 atccaggcca agtatctgga ccagatggag gacctgtatg aagacttcca catcgtgaag
      961 ctgccgctgt taccccatga ggtgcggggg gcagacaagg tcaacacctt ctcggccctc
     1021 ctcctggagc cctacaagcc ccccagtgcc cagtagcaca gctgccagcc ccaaccgctg
     1081 ccatttcaca ctcaccctcc accctcccca ccccctcggg gcagagtttg cacaaagtcc
     1141 cccccataat acagggggag ccacttgggc aggaggcagg gaggggtcca ttccccctgg
     1201 tggggctggt ggggagctgt agttgccccc tacctctccc acctcttgct cttcaataaa
     1261 atgatcttaa actgc
//
