LOCUS       NM_013336               3568 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens SEC61 translocon subunit alpha 1 (SEC61A1), transcript
            variant 1, mRNA.
ACCESSION   NM_013336 NM_015968
VERSION     NM_013336.4
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 3568)
  AUTHORS   Weiand,M., Sandfort,V., Nadzemova,O., Schierwagen,R., Trebicka,J.,
            Schlevogt,B., Kabar,I., Schmidt,H. and Zibert,A.
  TITLE     Comparative analysis of SEC61A1 mutant R236C in two patient-derived
            cellular platforms
  JOURNAL   Sci Rep 14 (1), 9506 (2024)
   PUBMED   38664472
  REMARK    GeneRIF: Comparative analysis of SEC61A1 mutant R236C in two
            patient-derived cellular platforms.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3568)
  AUTHORS   Salokas,K., Liu,X., Ohman,T., Chowdhury,I., Gawriyski,L.,
            Keskitalo,S. and Varjosalo,M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   3  (bases 1 to 3568)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 3568)
  AUTHORS   Sicking,M., Zivna,M., Bhadra,P., Baresova,V., Tirincsi,A.,
            Hadzibeganovic,D., Hodanova,K., Vyletal,P., Sovova,J.,
            Jedlickova,I., Jung,M., Bell,T., Helms,V., Bleyer,A.J., Kmoch,S.,
            Cavalie,A. and Lang,S.
  TITLE     Phenylbutyrate rescues the transport defect of the Sec61alpha
            mutations V67G and T185A for renin
  JOURNAL   Life Sci Alliance 5 (4), e202101150 (2022)
   PUBMED   35064074
  REMARK    GeneRIF: Phenylbutyrate rescues the transport defect of the
            Sec61alpha mutations V67G and T185A for renin.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3568)
  AUTHORS   O'Keefe,S., Zong,G., Duah,K.B., Andrews,L.E., Shi,W.Q. and High,S.
  TITLE     An alternative pathway for membrane protein biogenesis at the
            endoplasmic reticulum
  JOURNAL   Commun Biol 4 (1), 828 (2021)
   PUBMED   34211117
  REMARK    GeneRIF: An alternative pathway for membrane protein biogenesis at
            the endoplasmic reticulum.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3568)
  AUTHORS   Chen,Y., Le Caherec,F. and Chuck,S.L.
  TITLE     Calnexin and other factors that alter translocation affect the
            rapid binding of ubiquitin to apoB in the Sec61 complex
  JOURNAL   J Biol Chem 273 (19), 11887-11894 (1998)
   PUBMED   9565615
REFERENCE   7  (bases 1 to 3568)
  AUTHORS   Knight,B.C. and High,S.
  TITLE     Membrane integration of Sec61alpha: a core component of the
            endoplasmic reticulum translocation complex
  JOURNAL   Biochem J 331 (Pt 1) (Pt 1), 161-167 (1998)
   PUBMED   9512475
REFERENCE   8  (bases 1 to 3568)
  AUTHORS   Dodson,G. and Steiner,D.
  TITLE     The role of assembly in insulin's biosynthesis
  JOURNAL   Curr Opin Struct Biol 8 (2), 189-194 (1998)
   PUBMED   9631292
  REMARK    Review article
REFERENCE   9  (bases 1 to 3568)
  AUTHORS   Wiertz,E.J., Tortorella,D., Bogyo,M., Yu,J., Mothes,W., Jones,T.R.,
            Rapoport,T.A. and Ploegh,H.L.
  TITLE     Sec61-mediated transfer of a membrane protein from the endoplasmic
            reticulum to the proteasome for destruction
  JOURNAL   Nature 384 (6608), 432-438 (1996)
   PUBMED   8945469
REFERENCE   10 (bases 1 to 3568)
  AUTHORS   Do,H., Falcone,D., Lin,J., Andrews,D.W. and Johnson,A.E.
  TITLE     The cotranslational integration of membrane proteins into the
            phospholipid bilayer is a multistep process
  JOURNAL   Cell 85 (3), 369-378 (1996)
   PUBMED   8616892
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK027423.1, AK027452.1 and
            AF084458.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_013336.3.
            
            Summary: The protein encoded by this gene belongs to the
            SECY/SEC61- alpha family. It appears to play a crucial role in the
            insertion of secretory and membrane polypeptides into the
            endoplasmic reticulum. This protein found to be tightly associated
            with membrane-bound ribosomes, either directly or through adaptor
            proteins. This gene encodes an alpha subunit of the heteromeric
            SEC61 complex, which also contains beta and gamma subunits.
            [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 :: AL832821.1, AK027423.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000243253.8/ ENSP00000243253.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2829              AK027423.1         69-2897
            2830-3566           AK027452.1         1864-2600
            3567-3568           AF084458.1         3540-3541
FEATURES             Location/Qualifiers
     source          1..3568
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.3"
     gene            1..3568
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /note="SEC61 translocon subunit alpha 1"
                     /db_xref="GeneID:29927"
                     /db_xref="HGNC:HGNC:18276"
                     /db_xref="MIM:609213"
     exon            1..123
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..1547
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein transport protein SEC61 alpha subunit; sec61
                     homolog; Sec61 alpha-1; protein transport protein Sec61
                     subunit alpha; Sec61 alpha 1 subunit; SEC61 translocon
                     alpha 1 subunit"
                     /codon_start=1
                     /product="protein transport protein Sec61 subunit alpha
                     isoform 1 isoform 1"
                     /protein_id="NP_037468.1"
                     /db_xref="CCDS:CCDS3046.1"
                     /db_xref="GeneID:29927"
                     /db_xref="HGNC:HGNC:18276"
                     /db_xref="MIM:609213"
                     /translation="MAIKFLEVIKPFCVILPEIQKPERKIQFKEKVLWTAITLFIFLV
                     CCQIPLFGIMSSDSADPFYWMRVILASNRGTLMELGISPIVTSGLIMQLLAGAKIIEV
                     GDTPKDRALFNGAQKLFGMIITIGQSIVYVMTGMYGDPSEMGAGICLLITIQLFVAGL
                     IVLLLDELLQKGYGLGSGISLFIATNICETIVWKAFSPTTVNTGRGMEFEGAIIALFH
                     LLATRTDKVRALREAFYRQNLPNLMNLIATIFVFAVVIYFQGFRVDLPIKSARYRGQY
                     NTYPIKLFYTSNIPIILQSALVSNLYVISQMLSARFSGNLLVSLLGTWSDTSSGGPAR
                     AYPVGGLCYYLSPPESFGSVLEDPVHAVVYIVFMLGSCAFFSKTWIEVSGSSAKDVAK
                     QLKEQQMVMRGHRETSMVHELNRYIPTAAAFGGLCIGALSVLADFLGAIGSGTGILLA
                     VTIIYQYFEIFVKEQSEVGSMGALLF"
     exon            124..191
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /inference="alignment:Splign:2.1.0"
     exon            192..257
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /inference="alignment:Splign:2.1.0"
     exon            258..336
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /inference="alignment:Splign:2.1.0"
     exon            337..468
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /inference="alignment:Splign:2.1.0"
     exon            469..578
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /inference="alignment:Splign:2.1.0"
     exon            579..732
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /inference="alignment:Splign:2.1.0"
     exon            733..893
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /inference="alignment:Splign:2.1.0"
     exon            894..1091
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1283
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1360
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /inference="alignment:Splign:2.1.0"
     exon            1361..3568
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3544..3549
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /note="hexamer: AATAAA"
     polyA_site      3568
                     /gene="SEC61A1"
                     /gene_synonym="ADTKD5; CVID15; HNFJ4; HSEC61; SEC61;
                     SEC61A"
                     /note="major polyA site"
ORIGIN      
        1 gacgtgtctc tcggcggagc tgctgtgcag tggaacgcgc tgggccgcgg gcagcgtcgc
       61 ctcacgcgga gcagagctga gctgaagcgg gacccggagc ccgagcagcc gccgccatgg
      121 caatcaaatt tctggaagtc atcaagccct tctgtgtcat cctgccggaa attcagaagc
      181 cagagaggaa gattcagttt aaggagaaag tgctgtggac cgctatcacc ctctttatct
      241 tcttagtgtg ctgccagatt cccctgtttg ggatcatgtc ttcagattca gctgaccctt
      301 tctattggat gagagtgatt ctagcctcta acagaggcac attgatggag ctagggatct
      361 ctcctattgt cacgtctggc cttataatgc aactcttggc tggcgccaag ataattgaag
      421 ttggtgacac cccaaaagac cgagctctct tcaacggagc ccaaaagtta tttggcatga
      481 tcattactat cggccagtct atcgtgtatg tgatgaccgg gatgtatggg gacccttctg
      541 aaatgggtgc tggaatttgc ctgctaatca ccattcagct ctttgttgct ggcttaattg
      601 tcctactttt ggatgaactc ctgcaaaaag gatatggcct tggctctggt atttctctct
      661 tcattgcaac taacatctgt gaaaccatcg tatggaaggc attcagcccc actactgtca
      721 acactggccg aggaatggaa tttgaaggtg ctatcatcgc acttttccat ctgctggcca
      781 cacgcacaga caaggtccga gcccttcggg aggcgttcta ccgccagaat cttcccaacc
      841 tcatgaatct catcgccacc atctttgtct ttgcagtggt catctatttc cagggcttcc
      901 gagtggacct gccaatcaag tcggcccgct accgtggcca gtacaacacc tatcccatca
      961 agctcttcta tacgtccaac atccccatca tcctgcagtc tgccctggtg tccaaccttt
     1021 atgtcatctc ccaaatgctc tcagctcgct tcagtggcaa cttgctggtc agcctgctgg
     1081 gcacctggtc ggacacgtct tctgggggcc cagcacgtgc ttatccagtt ggtggccttt
     1141 gctattacct gtcccctcca gaatcttttg gctccgtgtt agaagacccg gtccatgcag
     1201 ttgtatacat agtgttcatg ctgggctcct gtgcattctt ctccaaaacg tggattgagg
     1261 tctcaggttc ctctgccaaa gatgttgcaa agcagctgaa ggagcagcag atggtgatga
     1321 gaggccaccg agagacctcc atggtccatg aactcaaccg gtacatcccc acagccgcgg
     1381 cctttggtgg gctgtgcatc ggggccctct cggtcctggc tgacttccta ggcgccattg
     1441 ggtctggaac cgggatcctg ctcgcagtca caatcatcta ccagtacttt gagatcttcg
     1501 ttaaggagca aagcgaggtt ggcagcatgg gggccctgct cttctgagcc cgtctcccgg
     1561 acaggttgag gaagctgctc cagaagcgcc tcggaagggg agctctcatc atggcgcgtg
     1621 ctgctgcggc atatggactt ttaataatgt ttttgaattt cgtattcttt cattccactg
     1681 tgtaaagtgc tagacatttt ccaatttaaa attttgcttt ttatcctggc actggcaaaa
     1741 agaactgtga aagtgaaatt ttattcagcc gactgccaga gaagtgggaa tggtatagga
     1801 ttgtccccaa gtgtccatgt aacttttgtt ttaacctttg caccttctca gtgctgtatg
     1861 cggctgcagc cgtctcacct gtttccccac aaagggaatt tctcactctg gttggaagca
     1921 caaacactga aatgtctacg tttcattttg gcagtagggt gtgaagctgg gagcagatca
     1981 tgtatttccc ggagacgtgg gaccttgctg gcatgtctcc ttcacaatca ggcgtgggaa
     2041 tatctggctt aggactgttt ctctctaaga caccattgtt ttcccttatt ttaaaagtga
     2101 tttttttaag gacagaactt cttccaaaag agagggatgg ctttcccaga agacactcct
     2161 ggccatctgt ggatttgtct gtgcacctat tggctcttct agctgactct tctggttggg
     2221 cttagagtct gcctgtttct gctagctccg tgtttagtcc acttgggtca tcagctctgc
     2281 caagctgagc ctggccaagc taggtggaca gacccttgca gtgatgtccg tttgtccaga
     2341 ttctgccagt catcactgga cacgtctcct cgcagctgcc ctagcaaggg gagacattgt
     2401 ggtagctatc agacatggac agaaactgac ttagtgctca caagccccta caccttctgg
     2461 gctgaagatc acccagctgt gttcagaatt ttcttactgt gcttaggact gcacgcaagt
     2521 gagcagacac caccgacttc ctttctgcgt caccagtgtc gtcagcagag agaggacagc
     2581 acaggctcaa ggttggtagt gaagtcaggt tcggggtgca tgggctgtgg tggtgttgat
     2641 cagttgctcc agtgtttgaa ataagaagac tcatgtttat gtctggaata agttctgttt
     2701 gtgctgacag gtggcctagg tcctggagat gagcaccctc tctctggcct ttagggagtc
     2761 ccctcttagg acaggcactg cccagcagca agggcagcag agttgggtgc taagatcctg
     2821 aggagctcga ggtttcgagc tggctttaga cattggtggg accaaggatg ttttgcagga
     2881 tgccctgatc ctaagaaggg ggcctggggg tgcgtgcagc ctgtcgggga gaccccactc
     2941 tgacagtggg cacacggcag cctgcaaagc acagggccac cgccacagcc cggcagaggg
     3001 gcacactctg gagaccttgc tggcagtgct agccaggaaa cagagtgacc aagggacaag
     3061 aagggacttg cctaaagcca cccagcaact cagcagcaga accaagatgg gccccaggct
     3121 cctccatatg gcccagggct taccacccta tcacacgtgg ccttgtctag acccagtcct
     3181 gagcagggga gaggctcttg agacctgatg ccctcctacc cacatggttc tcccactgcc
     3241 ctgtctgctc tgctgctaca gaggggcagg gcctccccca gcccacgctt aggaatgctt
     3301 ggcctctggc aggcaggcag ctgtacccaa gctggtgggc agggggctgg aaggcaccag
     3361 gcctcaggag gagccccata gtcccgcctg cagcctgtaa ccatcggctg ggccctgcaa
     3421 ggcccacact cacgccctgt gggtgatggt cacggtgggt gggtgggggc tgaccccagc
     3481 ttccagggga ctgtcactgt ggacgccaaa atggcataac tgagataagg tgaataagtg
     3541 acaaataaag ccagtttttt acaaggta
//
