LOCUS       NM_018986               4303 bp    mRNA    linear   PRI 10-FEB-2024
DEFINITION  Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1),
            transcript variant 1, mRNA.
ACCESSION   NM_018986
VERSION     NM_018986.5
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 4303)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104650.2 and KF459594.1.
            
            On Nov 23, 2018 this sequence version replaced NM_018986.4.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074402.1, SRR9304712.195883.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000245105.8/ ENSP00000245105.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-116               AC104650.2         100391-100506
            117-316             AC104650.2         106268-106467
            317-391             AC104650.2         110849-110923
            392-519             AC104650.2         113802-113929
            520-625             AC104650.2         115576-115681
            626-772             AC104650.2         117212-117358
            773-983             AC104650.2         118058-118268
            984-1060            AC104650.2         119372-119448
            1061-1256           AC104650.2         120436-120631
            1257-1387           AC104650.2         123941-124071
            1388-1429           AC104650.2         126276-126317
            1430-1455           AC104650.2         128081-128106
            1456-1777           KF459594.1         1-322
            1778-3094           AC104650.2         128429-129745
            3095-3275           AC104650.2         133077-133257
            3276-3426           AC104650.2         134464-134614
            3427-3549           AC104650.2         136534-136656
            3550-3700           AC104650.2         137379-137529
            3701-3897           AC104650.2         138575-138771
            3898-4303           AC104650.2         141799-142204
FEATURES             Location/Qualifiers
     source          1..4303
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.1"
     gene            1..4303
                     /gene="SH3TC1"
                     /note="SH3 domain and tetratricopeptide repeats 1"
                     /db_xref="GeneID:54436"
                     /db_xref="HGNC:HGNC:26009"
     exon            1..116
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            117..316
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             145..4155
                     /gene="SH3TC1"
                     /note="isoform 1 is encoded by transcript variant 1; SH3
                     domain and tetratricopeptide repeats-containing protein 1;
                     SH3 domain and tetratricopeptide repeat-containing protein
                     1"
                     /codon_start=1
                     /product="SH3 domain and tetratricopeptide
                     repeat-containing protein 1 isoform 1"
                     /protein_id="NP_061859.4"
                     /db_xref="CCDS:CCDS3399.1"
                     /db_xref="GeneID:54436"
                     /db_xref="HGNC:HGNC:26009"
                     /translation="MENLPAVTTEEPTPMGRGPVGPSGGGSTRDQVRTVVMRPSVSWE
                     KAGPEEAKAPVRGDEAPPARVAGPAAGTPPCQMGVYPTDLTLQLLAVRRKSRLRDPGL
                     QQTLRGQLRLLENDSREMARVLGELSARLLSIHSDQDRIVVTFKTFEEIWKFSTYHAL
                     GFTHHCLANLLMDQAFWLLLPSEEEETAIQVHVDENALRLTHESLLIQEGPFFVLCPD
                     HHVRVMTGPRDAGNGPQALRQASGAPQGEAAPETDSSPPSPSVSSEEVAVAAAPEPLI
                     PFHQWALRIPQDPIDDAMGGPVMPGNPLMAVGLASALADFQGSGPEEMTFRGGDLIEI
                     LGAQVPSLPWCVGRHAASGRVGFVRSSLISMQGPVSELESAIFLNEEEKSFFSEGCFS
                     EEDARQLLRRMSGTDVCSVYSLDSVEEAETEQPQEKEIPPPCLSLEPQETLQKVKNVL
                     EQCKTCPGCPQEPASWGLCAASSDVSLQDPEEPSFCLEAEDDWEDPEALSSLLLFLNA
                     PGYKASFRGLYDVALPWLSSVFRSFSDEEELTGRLAQARGAAKKAGLLMALARLCFLL
                     GRLCSRRLKLSQARVYFEEALGALEGSFGDLFLVVAVYANLASIYRKQKNREKCAQVV
                     PKAMALLLGTPDHICSTEAEGELLQLALRRAVGGQSLQAEARACFLLARHHVHLKQPE
                     EALPFLERLLLLHRDSGAPEAAWLSDCYLLLADIYSRKCLPHLVLSCVKVASLRTRGS
                     LAGSLRSVNLVLQNAPQPHSLPAQTSHYLRQALASLTPGTGQALRGPLYTSLAQLYSH
                     HGCHGPAITFMTQAVEASAIAGVRAIVDHLVALAWLHVLHGQSPVALDILQSVRDAVV
                     ASEDQEGVIANMVAVALKRTGRTRQAAESYYRALRVARDLGQQRNQAVGLANFGALCL
                     HAGASRLAQHYLLEAVRLFSRLPLGECGRDFTHVLLQLGHLCTRQGPAQQGKGYYEWA
                     LLVAVEMGHVESQLRAVQRLCHFYSAVMPSEAQCVIYHELQLSLACKVADKVLEGQLL
                     ETISQLYLSLGTERAYKSALDYTKRSLGIFIDLQKKEKEAHAWLQAGKIYYILRQSEL
                     VDLYIQVAQNVALYTGDPNLGLELFEAAGDIFFDGAWEREKAVSFYRDRALPLAVTTG
                     NRKAELRLCNKLVALLATLEEPQEGLEFAHMALALSITLGDRLNERVAYHRLAALQHR
                     LGHGELAEHFYLKALSLCNSPLEFDEETLYYVKVYLVLGDIIFYDLKDPFDAAGYYQL
                     ALAAAVDLGNKKAQLKIYTRLATIYHNFLLDREKSLFFYQKARTFATELNVRRVNLPP
                     LPLCGWAPWLAPSHPR"
     exon            317..391
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            392..519
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            520..625
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            626..772
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            773..983
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            984..1060
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1256
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1257..1387
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1388..1429
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1430..3094
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            3095..3275
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            3276..3426
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            3427..3549
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            3550..3700
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            3701..3897
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     exon            3898..4303
                     /gene="SH3TC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4272..4277
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SH3TC1"
                     /note="hexamer: AATAAA"
     polyA_site      4303
                     /gene="SH3TC1"
                     /note="major polyA site"
ORIGIN      
        1 gtccagctgg agacagcccc gtggggccag ccagcgctgg gccaggagcg gccacctggt
       61 tcctgcgtgc tacggccctg tgggcctggg agctgcctct gaggaacacg ccgcagggcc
      121 aggcatgtga ggtctctgcg ggtcatggag aacctccctg ccgtgaccac tgaggagccg
      181 acccccatgg ggaggggtcc tgtgggaccc tcaggaggtg gcagcacccg ggaccaggtc
      241 cggactgtgg tcatgaggcc ctctgtgagc tgggagaaag cggggcccga ggaggccaag
      301 gcgccagtga gaggcgacga ggctcctcct gcccgcgtgg ctgggcctgc tgctgggacc
      361 cctccctgcc agatgggggt ttatcccaca gacctgaccc tgcagctgct ggctgtgcgg
      421 aggaagagca gactgcggga ccccggccta cagcagaccc tccggggcca gctccgcctg
      481 ctggagaatg atagccggga gatggcccgc gtgcttgggg aattatcagc caggctgctg
      541 tccatccaca gtgaccagga ccggatcgtg gtgacgttta agacttttga agaaatctgg
      601 aagttttcca cctaccatgc tctcggcttc actcatcact gcctggcaaa cctgctcatg
      661 gaccaggcct tctggctgct cttgcccagt gaggaggagg agacggccat ccaagtccat
      721 gtggatgaga acgccttaag gctgacccac gagagcctcc tcatccaaga agggcccttc
      781 tttgtcctgt gtcctgacca ccatgtgaga gtgatgacgg gtccccggga tgcaggaaat
      841 ggcccccagg ccctcaggca ggcttcgggg gcaccccagg gagaggcggc cccggaaaca
      901 gactcttcac cgccgagccc cagcgtgtcc tccgaggagg tggcagtggc ggccgccccg
      961 gagcctttga ttccatttca tcagtgggct cttaggatcc cccaggaccc catcgacgat
     1021 gccatgggtg gccctgtgat gcccggcaac ccgctgatgg ctgtgggcct ggcctcggca
     1081 ttggcagact tccagggctc ggggcccgaa gagatgacct tccgaggtgg cgacctcatc
     1141 gagatccttg gggcgcaggt gcccagcctg ccctggtgcg tgggccgaca cgcagcctcg
     1201 ggccgggtgg ggtttgtgcg gagcagcctc atcagcatgc agggccccgt gtccgagttg
     1261 gaaagtgcga tttttctcaa tgaggaagaa aagtcattct tcagcgaggg ctgcttttct
     1321 gaggaggatg ccaggcagtt gctgaggcgg atgtcgggca ccgatgtctg cagcgtgtac
     1381 agcctggact cagtagagga agctgagacc gagcagccgc aggaaaaaga aatacctcca
     1441 ccttgcctga gcctggagcc acaggagacc ttgcagaagg tgaagaatgt tctggaacaa
     1501 tgcaagacct gcccaggctg cccccaggag ccagcgtcct ggggtctctg tgcggcatcc
     1561 agcgacgtga gcttgcagga ccccgaggag ccctccttct gcttggaagc cgaggacgac
     1621 tgggaggacc cagaggccct gagctcactg ctgctgttcc tgaacgcccc tgggtacaag
     1681 gccagcttcc gtggcctgta cgatgtggcg ctgccgtggc tgagcagcgt gttccgcagc
     1741 ttcagcgacg aggaggagct gactgggcgc ctggcacagg cccggggggc ggccaagaaa
     1801 gctggcctcc tcatggccct ggccaggctc tgcttcctcc tggggcggct gtgcagcagg
     1861 aggctcaagc tgtcccaggc ccgggtgtac tttgaggaag cgctgggggc cctggagggc
     1921 agcttcgggg acctgttcct agtggtggct gtgtacgcca acctggccag catttaccgg
     1981 aagcagaaga accgggagaa gtgtgcacag gtggtgccca aagccatggc cctgctcctg
     2041 gggacgcctg accacatctg cagcaccgag gcggaggggg agctcctgca gctggcgctg
     2101 cggcgggcgg tgggtggcca gagcctgcag gccgaggccc gggcctgctt cctgctggcc
     2161 aggcaccacg tgcacctcaa gcagcccgag gaggccctgc ccttcctaga gcggctgctg
     2221 cttttgcaca gggactcggg agccccagag gccgcgtggc tctcagactg ctacctactc
     2281 ctggctgaca tctacagccg caagtgcctg ccccacctgg tgctgagctg tgtcaaggtg
     2341 gcctcattgc ggacacgggg ctcgctggcc ggctcgctga ggagtgtgaa cctggtgctc
     2401 cagaacgccc cccagcccca cagcctccct gcccaaactt cccactacct caggcaagcg
     2461 ctggcctccc tgaccccggg cacaggccag gcgctgcgcg gccccctcta caccagcttg
     2521 gcccagctgt acagccacca tggctgccac ggcccggcca tcaccttcat gacgcaggca
     2581 gtggaagcca gtgctattgc cggagtccgt gccatcgtgg accacctggt ggccctggcc
     2641 tggctgcacg tgcttcatgg gcagagcccg gtggccctgg acatcctgca gtctgtccgg
     2701 gatgcagtgg tggccagcga ggaccaggag ggcgtgattg ccaacatggt ggccgtggct
     2761 ctgaagagga cgggccggac gaggcaggca gctgagagct actaccgcgc cctgcgggtg
     2821 gctcgggacc tgggccagca aaggaaccag gcagtggggc tggccaactt cggggccctg
     2881 tgcctgcatg cgggtgccag caggctggcc cagcactacc tcctggaggc cgtgcggctg
     2941 ttctcgaggc tgccccttgg ggagtgtggc cgggacttca cccacgtgct cctgcagctg
     3001 ggccatctct gcacccgcca gggcccggcc cagcagggca agggctacta cgagtgggcc
     3061 cttctggtcg ccgtggagat gggccacgtg gagagccagc tgcgggccgt ccagcggctg
     3121 tgccacttct acagcgccgt catgcccagc gaggcccagt gtgtcatcta ccatgagctc
     3181 cagctctccc tggcctgcaa ggtggccgac aaggtgctgg aggggcagct cctggagacc
     3241 atcagccagc tctacctgtc cctgggcacc gagcgggcct acaaatccgc actggactac
     3301 accaaacgaa gtctggggat tttcattgac ctccagaaga aagagaagga ggcgcatgcc
     3361 tggctgcaag cagggaagat ctattacatc ttgcggcaga gcgagctggt ggacctctac
     3421 atccaggtgg cacagaacgt ggccctgtac acaggcgacc ccaacctggg gctggagctg
     3481 tttgaggcgg ctggagacat cttcttcgac ggggcctggg agcgggagaa agctgtgtcc
     3541 ttctaccggg accgggccct gcccctggca gtgactacgg gcaaccgcaa ggcggagctg
     3601 cggctgtgca acaagctggt ggcactgctg gccacgctgg aggagcccca ggagggcttg
     3661 gagtttgccc acatggccct agcactcagc atcaccctgg gggaccggct gaacgagcgc
     3721 gtggcctacc accggctggc cgccctgcaa caccgactgg gccatggcga gctggcagag
     3781 cacttctacc tcaaggccct gtcgctctgc aactcgccgc tggagtttga cgaggagacc
     3841 ctctactacg tgaaggtgta cctggtgctc ggtgacatca tcttctacga cctgaaggac
     3901 ccgtttgatg cagccgggta ctaccagctg gcgctggcag ccgccgtgga cctgggcaac
     3961 aagaaggcac agctgaagat ctacacgcgg ctggccacca tctaccacaa cttcctcctg
     4021 gaccgtgaga agtcgctctt cttctaccag aaggccagga ccttcgccac agagctcaac
     4081 gtccgcaggg tcaacctgcc tcctctgcca ctctgcgggt gggccccctg gttggccccc
     4141 agccaccctc gctgaggaca gcatccaagg gagtgggttt tgtgcaaggg ctgggggtct
     4201 cctgcctctc ctggtgtcgc cggtggctca ttttctggca aatggaggca cgaacgcagg
     4261 ggccaaatag caataaatgg gttttgtttt ttttttgcaa taa
//
