LOCUS       NM_004627               1534 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens guided entry of tail-anchored proteins factor 1
            (GET1), transcript variant 1, mRNA.
ACCESSION   NM_004627
VERSION     NM_004627.6
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 1534)
  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   2  (bases 1 to 1534)
  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   3  (bases 1 to 1534)
  AUTHORS   Inglis,A.J., Page,K.R., Guna,A. and Voorhees,R.M.
  TITLE     Differential Modes of Orphan Subunit Recognition for the WRB/CAML
            Complex
  JOURNAL   Cell Rep 30 (11), 3691-3698 (2020)
   PUBMED   32187542
REFERENCE   4  (bases 1 to 1534)
  AUTHORS   Carvalho,H.J.F., Del Bondio,A., Maltecca,F., Colombo,S.F. and
            Borgese,N.
  TITLE     The WRB Subunit of the Get3 Receptor is Required for the Correct
            Integration of its Partner CAML into the ER
  JOURNAL   Sci Rep 9 (1), 11887 (2019)
   PUBMED   31417168
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1534)
  AUTHORS   Shaaban,S., MacKinnon,S., Andrews,C., Staffieri,S.E.,
            Maconachie,G.D.E., Chan,W.M., Whitman,M.C., Morton,S.U., Yazar,S.,
            MacGregor,S., Elder,J.E., Traboulsi,E.I., Gottlob,I., Hewitt,A.W.,
            Hunter,D.G., Mackey,D.A. and Engle,E.C.
  CONSRTM   Strabismus Genetics Research Consortium
  TITLE     Genome-Wide Association Study Identifies a Susceptibility Locus for
            Comitant Esotropia and Suggests a Parent-of-Origin Effect
  JOURNAL   Invest Ophthalmol Vis Sci 59 (10), 4054-4064 (2018)
   PUBMED   30098192
  REMARK    GeneRIF: A significant association with nonaccommodative esotropia
            was discovered (odds ratio [OR] = 1.41, P = 2.84 x 10-09) and
            replicated (OR = 1.23, P = 0.01) at rs2244352 [T] located within
            intron 1 of the WRB (tryptophan rich basic protein) gene on
            chromosome 21
REFERENCE   6  (bases 1 to 1534)
  AUTHORS   Alves da Silva,A.F., Machado,F.B., Pavarino,E.C.,
            Biselli-Perico,J.M., Zampieri,B.L., da Silva Francisco Junior,R.,
            Mozer Rodrigues,P.T., Terra Machado,D., Santos-Reboucas,C.B., Gomes
            Fernandes,M., Chuva de Sousa Lopes,S.M., Lopes Rios,A.F. and
            Medina-Acosta,E.
  TITLE     Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and
            -Independent Manners
  JOURNAL   PLoS One 11 (4), e0154108 (2016)
   PUBMED   27100087
  REMARK    GeneRIF: WRB gene contains a maternally imprinted differentially
            methylated region (DMR).  The maternally inherited 5mCpG imprints
            at the WRB DMR are uncoupled from the parental allele expression of
            WRB and ten neighboring genes in twelve biosamples (brain, blood,
            fallopian tube, fetal large and small intestine, hESCs, large
            airway epithelial cells, thyroid, muscle, epidermal keratinocytes,
            ovary, skin, and testis).
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1534)
  AUTHORS   Yamamoto,Y. and Sakisaka,T.
  TITLE     Molecular machinery for insertion of tail-anchored membrane
            proteins into the endoplasmic reticulum membrane in mammalian cells
  JOURNAL   Mol Cell 48 (3), 387-397 (2012)
   PUBMED   23041287
  REMARK    GeneRIF: Results indicate calcium-modulating cyclophilin ligand
            (CAML) and WRB as components of the TRC40 receptor complex and a
            crucial mechanism for driving ER membrane insertion of TA proteins
            in mammalian cells.
REFERENCE   8  (bases 1 to 1534)
  AUTHORS   Vilardi,F., Lorenz,H. and Dobberstein,B.
  TITLE     WRB is the receptor for TRC40/Asna1-mediated insertion of
            tail-anchored proteins into the ER membrane
  JOURNAL   J Cell Sci 124 (Pt 8), 1301-1307 (2011)
   PUBMED   21444755
  REMARK    GeneRIF: The coiled-coil domain of WRB is the binding site for
            TRC40/Asna1.
REFERENCE   9  (bases 1 to 1534)
  AUTHORS   Surapureddi,S., Yu,S., Bu,H., Hashimoto,T., Yeldandi,A.V.,
            Kashireddy,P., Cherkaoui-Malki,M., Qi,C., Zhu,Y.J., Rao,M.S. and
            Reddy,J.K.
  TITLE     Identification of a transcriptionally active peroxisome
            proliferator-activated receptor alpha -interacting cofactor complex
            in rat liver and characterization of PRIC285 as a coactivator
  JOURNAL   Proc Natl Acad Sci U S A 99 (18), 11836-11841 (2002)
   PUBMED   12189208
REFERENCE   10 (bases 1 to 1534)
  AUTHORS   Egeo,A., Mazzocco,M., Sotgia,F., Arrigo,P., Oliva,R., Bergonon,S.,
            Nizetic,D., Rasore-Quartino,A. and Scartezzini,P.
  TITLE     Identification and characterization of a new human cDNA from
            chromosome 21q22.3 encoding a basic nuclear protein
  JOURNAL   Hum Genet 102 (3), 289-293 (1998)
   PUBMED   9544840
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF064861.5 and AW001614.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_004627.5.
            
            Summary: This gene is located in the candidate region for
            congenital heart disease (CHD) in Down syndrome (DS). It encodes a
            basic protein that functions as a receptor that promotes insertion
            of tail-anchored proteins in the endoplasmic reticulum membrane.
            This gene is located at a maternally-methylated differentially
            methylated region (DMR); however, its transcription may be
            biallelic, not imprinted. Alternative splicing results in different
            transcript variants. A pseudogene has been defined on chromosome 4.
            [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) encodes the longest isoform.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR3476690.257273.1,
                                           SRR5189658.143098.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000649170.1/ ENSP00000496813.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-161               AF064861.5         106808-106968
            162-327             AF064861.5         117180-117345
            328-395             AF064861.5         118251-118318
            396-510             AF064861.5         119648-119762
            511-1329            AF064861.5         123348-124166
            1330-1534           AW001614.1         8-212               c
FEATURES             Location/Qualifiers
     source          1..1534
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.2"
     gene            1..1534
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
                     /note="guided entry of tail-anchored proteins factor 1"
                     /db_xref="GeneID:7485"
                     /db_xref="HGNC:HGNC:12790"
                     /db_xref="MIM:602915"
     exon            1..161
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..584
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
                     /note="isoform 1 is encoded by transcript variant 1;
                     congenital heart disease 5 protein; tail-anchored protein
                     insertion receptor WRB; tryptophan rich basic protein"
                     /codon_start=1
                     /product="guided entry of tail-anchored proteins factor 1
                     isoform 1"
                     /protein_id="NP_004618.2"
                     /db_xref="CCDS:CCDS13664.1"
                     /db_xref="GeneID:7485"
                     /db_xref="HGNC:HGNC:12790"
                     /db_xref="MIM:602915"
                     /translation="MSSAAADHWAWLLVLSFVFGCNVLRILLPSFSSFMSRVLQKDAE
                     QESQMRAEIQDMKQELSTVNMMDEFARYARLERKINKMTDKLKTHVKARTAQLAKIKW
                     VISVAFYVLQAALMISLIWKYYSVPVAVVPSKWITPLDRLVAFPTRVAGGVGITCWIL
                     VCNKVVAIVLHPFS"
     exon            162..327
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
                     /inference="alignment:Splign:2.1.0"
     exon            328..395
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
                     /inference="alignment:Splign:2.1.0"
     exon            396..510
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
                     /inference="alignment:Splign:2.1.0"
     exon            511..1534
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1376..1381
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
                     /note="hexamer: ATTAAA"
     polyA_site      1395
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
                     /note="major polyA site"
     regulatory      1406..1411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
                     /note="hexamer: ATTAAA"
     polyA_site      1433
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
     regulatory      1512..1517
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
                     /note="hexamer: AGTAAA"
     polyA_site      1534
                     /gene="GET1"
                     /gene_synonym="CHD5; WRB"
                     /note="major polyA site"
ORIGIN      
        1 gttgttgtgg tccccatgga gctgccgtag cggacccagc acagccagga gcgtccggga
       61 tgagctcagc cgcggccgac cactgggcgt ggttgctggt gctcagcttc gtgtttggat
      121 gcaatgttct taggatcctc ctcccgtcct tctcatcctt catgtccagg gtgctgcaga
      181 aggacgcgga gcaggagtca cagatgagag cggagatcca ggacatgaag caggagctct
      241 ccacagtcaa catgatggac gagtttgcca gatatgccag gctggaaaga aagatcaaca
      301 agatgacgga taagctcaaa acccatgtga aagctcggac agctcaatta gccaagataa
      361 aatgggtgat aagtgtcgct ttctacgtat tgcaggctgc cctgatgatc tcactcattt
      421 ggaagtatta ttctgtccct gtggctgtcg tgccgagtaa atggataacc cctctagacc
      481 gcctggtagc ctttcctact agagtagcag gtggtgttgg aattacctgt tggattttag
      541 tctgtaacaa agttgtcgct attgtgcttc atccgttcag ctgaacagga ggatggatac
      601 agccgcgagg ctaaaaaacg gatttcctct tcctagctta aaatctgatt tacactgttt
      661 tgttttttaa gaaacaaaag tgcatagttt agattttttt tttgttgaat atgtttgttc
      721 ttggacttta tgagagagtc ttataagaat cacgattttc tacacctgtc attgagccaa
      781 gaaagtccag tttatgacac gtatgtacta gtgaacaccg tcctcgatct gtacgaaatg
      841 tgaaatgttt agggacatct ccatgctgtc acttgtgatt tgccctctta tgtattttgg
      901 tcatattgcc aactggaaag tcaaaatttt ctaacaactt taagtaagtt ctttgaagac
      961 ttagtgctgt ttttaatcca gtttagaaag taacttaatt ttaataccac tactaaaaat
     1021 tcgaaaattt cttctttaat cacattcaat atggttaaaa gaacaacact aattgacatt
     1081 gcgtgggctt tttctccctt tgtttaaaat gtcatttgtt gagcaagagt tgtatagtat
     1141 tatctactta cttgaggctg ttaatttttc attacagtgt tttgtaaatg tatccacgag
     1201 accatgatgc attgttttgt gctcaacttg tgttttgtat ttaaagcatt ttgaatgaag
     1261 tgtattttat aagcatttaa tatttatgct ctttagaatg gaacacagaa aacaaacctt
     1321 ataagtcctg attaatctga accaataacc tgtgtggcct acaaagtata attctattaa
     1381 atgttcctta aaacactttt ttctaattaa aatctttgca aatgcttgtg taacttcctg
     1441 ccttacagct acttgtttgc tgtgagccac ccgcaactga caagtggctg ttaactgagt
     1501 caccatatcc cagtaaagct gaattttctc acta
//
