LOCUS       NM_018676               3026 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens thrombospondin type 1 domain containing 1 (THSD1),
            transcript variant 1, mRNA.
ACCESSION   NM_018676
VERSION     NM_018676.4
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 3026)
  AUTHORS   Xu,Z., Lu,J., Gao,S. and Rui,Y.N.
  TITLE     THSD1 Suppresses Autophagy-Mediated Focal Adhesion Turnover by
            Modulating the FAK-Beclin 1 Pathway
  JOURNAL   Int J Mol Sci 25 (4), 2139 (2024)
   PUBMED   38396816
  REMARK    GeneRIF: THSD1 Suppresses Autophagy-Mediated Focal Adhesion
            Turnover by Modulating the FAK-Beclin 1 Pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3026)
  AUTHORS   Al Rawi,W.N., Ibrahim,F.H., El Nakeib,O.A.S. and Al Zidgali,F.M.
  TITLE     Manifestations of thrombospondin type-1 domain-containing protein 1
            gene mutation in an extremely premature infant with nonimmune
            hydrops fetalis
  JOURNAL   Am J Med Genet A 185 (5), 1598-1601 (2021)
   PUBMED   33569873
  REMARK    GeneRIF: Manifestations of thrombospondin type-1 domain-containing
            protein 1 gene mutation in an extremely premature infant with
            nonimmune hydrops fetalis.
REFERENCE   3  (bases 1 to 3026)
  AUTHORS   Abdelrahman,H.A., Al-Shamsi,A., John,A., Hertecant,J., Lootah,A.,
            Ali,B.R. and Al-Gazali,L.
  TITLE     A recessive truncating variant in thrombospondin-1 domain
            containing protein 1 gene THSD1 is the underlying cause of
            nonimmune hydrops fetalis, congenital cardiac defects, and
            haemangiomas in four patients from a consanguineous family
  JOURNAL   Am J Med Genet A 176 (9), 1996-2003 (2018)
   PUBMED   30055085
  REMARK    GeneRIF: we report the novel truncating THSD1 variant, and describe
            new clinical features that have not been reported previously thus
            expanding the phenotype associate with loss-of-function mutations
            in THSD1 causing NIHF.
REFERENCE   4  (bases 1 to 3026)
  AUTHORS   Rui,Y.N., Xu,Z., Fang,X., Menezes,M.R., Balzeau,J., Niu,A.,
            Hagan,J.P. and Kim,D.H.
  TITLE     The Intracranial Aneurysm Gene THSD1 Connects Endosome Dynamics to
            Nascent Focal Adhesion Assembly
  JOURNAL   Cell Physiol Biochem 43 (6), 2200-2211 (2017)
   PUBMED   29069646
  REMARK    GeneRIF: THSD1 forms a multimeric protein complex with
            FAK/talin/vinculin, wherein THSD1 promotes talin binding to FAK but
            not to vinculin, a key step in nascent adhesion assembly.
REFERENCE   5  (bases 1 to 3026)
  AUTHORS   Santiago-Sim,T., Fang,X., Hennessy,M.L., Nalbach,S.V.,
            DePalma,S.R., Lee,M.S., Greenway,S.C., McDonough,B.,
            Hergenroeder,G.W., Patek,K.J., Colosimo,S.M., Qualmann,K.J.,
            Hagan,J.P., Milewicz,D.M., MacRae,C.A., Dymecki,S.M., Seidman,C.E.,
            Seidman,J.G. and Kim,D.H.
  TITLE     THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation
            in the Pathogenesis of Intracranial Aneurysm and Subarachnoid
            Hemorrhage
  JOURNAL   Stroke 47 (12), 3005-3013 (2016)
   PUBMED   27895300
  REMARK    GeneRIF: THSD1 mutation associated with Intracranial Aneurysm and
            Subarachnoid Hemorrhage.
            Erratum:[Stroke. 2017 Aug;48(8):e240. doi:
            10.1161/STR.0000000000000139.. PMID: 28739885]
REFERENCE   6  (bases 1 to 3026)
  AUTHORS   Gruber,H.E., Ingram,J.A. and Hanley,E.N. Jr.
  TITLE     Immunolocalization of thrombospondin in the human and sand rat
            intervertebral disc
  JOURNAL   Spine (Phila Pa 1976) 31 (22), 2556-2561 (2006)
   PUBMED   17047544
  REMARK    GeneRIF: The strong immunolocalization of thrombospondin (TSP) in
            the outer anulus of the intervertebral disc indicates a role for
            TSP in the avascular status of the adult human disc.
REFERENCE   7  (bases 1 to 3026)
  AUTHORS   Orr,A.W., Pallero,M.A., Xiong,W.C. and Murphy-Ullrich,J.E.
  TITLE     Thrombospondin induces RhoA inactivation through FAK-dependent
            signaling to stimulate focal adhesion disassembly
  JOURNAL   J Biol Chem 279 (47), 48983-48992 (2004)
   PUBMED   15371459
  REMARK    GeneRIF: Thrombospondin has a role in inducing RhoA inactivation
            through FAK-dependent signaling to stimulate focal adhesion
            disassembly
REFERENCE   8  (bases 1 to 3026)
  AUTHORS   Dunham,A., Matthews,L.H., Burton,J., Ashurst,J.L., Howe,K.L.,
            Ashcroft,K.J., Beare,D.M., Burford,D.C., Hunt,S.E.,
            Griffiths-Jones,S., Jones,M.C., Keenan,S.J., Oliver,K., Scott,C.E.,
            Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,D.T.,
            Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Bannerjee,R.,
            Barlow,K.F., Bates,K., Beasley,H., Bird,C.P., Bray-Allen,S.,
            Brown,A.J., Brown,J.Y., Burrill,W., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M.E., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S.C., Cobley,V., Collins,J.E., Corby,N., Coville,G.J.,
            Deloukas,P., Dhami,P., Dunham,I., Dunn,M., Earthrowl,M.E.,
            Ellington,A.G., Faulkner,L., Frankish,A.G., Frankland,J.,
            French,L., Garner,P., Garnett,J., Gilbert,J.G., Gilson,C.J.,
            Ghori,J., Grafham,D.V., Gribble,S.M., Griffiths,C., Hall,R.E.,
            Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Howden,P.J.,
            Huckle,E.J., Hunt,P.J., Hunt,A.R., Johnson,C., Johnson,D., Kay,M.,
            Kimberley,A.M., King,A., Laird,G.K., Langford,C.J., Lawlor,S.,
            Leongamornlert,D.A., Lloyd,D.M., Lloyd,C., Loveland,J.E.,
            Lovell,J., Martin,S., Mashreghi-Mohammadi,M., McLaren,S.J.,
            McMurray,A., Milne,S., Moore,M.J., Nickerson,T., Palmer,S.A.,
            Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K.M.,
            Rice,C.M., Searle,S., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Steward,C.A., Sycamore,N., Tester,J., Thomas,D.W.,
            Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P.,
            Whitehead,S.L., Willey,D.L., Wilming,L., Wray,P.W., Wright,M.W.,
            Young,L., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Beck,S.,
            Bentley,D.R., Rogers,J. and Ross,M.T.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
REFERENCE   9  (bases 1 to 3026)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10 (bases 1 to 3026)
  AUTHORS   Bork,P.
  TITLE     The modular architecture of a new family of growth regulators
            related to connective tissue growth factor
  JOURNAL   FEBS Lett 327 (2), 125-130 (1993)
   PUBMED   7687569
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK096289.1, AL359513.12 and
            BC063842.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_018676.3.
            
            Summary: The protein encoded by this gene contains a type 1
            thrombospondin domain, which is found in a number of proteins
            involved in the complement pathway, as well as in extracellular
            matrix proteins. Alternatively spliced transcript variants encoding
            different isoforms have been observed for this gene. [provided by
            RefSeq, Jan 2009].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: SRR1803613.226789.1,
                                           SRR1803612.241247.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258613.5/ ENSP00000258613.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-717               AK096289.1         323-1039
            718-1244            AL359513.12        32435-32961         c
            1245-1403           AL359513.12        21231-21389         c
            1404-3006           AL359513.12        12390-13992         c
            3007-3026           BC063842.1         2803-2822
FEATURES             Location/Qualifiers
     source          1..3026
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.3"
     gene            1..3026
                     /gene="THSD1"
                     /gene_synonym="ANIB12; LMPHM13; TMTSP; UNQ3010"
                     /note="thrombospondin type 1 domain containing 1"
                     /db_xref="GeneID:55901"
                     /db_xref="HGNC:HGNC:17754"
                     /db_xref="MIM:616821"
     exon            1..142
                     /gene="THSD1"
                     /gene_synonym="ANIB12; LMPHM13; TMTSP; UNQ3010"
                     /inference="alignment:Splign:2.1.0"
     exon            143..281
                     /gene="THSD1"
                     /gene_synonym="ANIB12; LMPHM13; TMTSP; UNQ3010"
                     /inference="alignment:Splign:2.1.0"
     CDS             224..2782
                     /gene="THSD1"
                     /gene_synonym="ANIB12; LMPHM13; TMTSP; UNQ3010"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 4833423O18Rik; transmembrane molecule with
                     thrombospondin module; thrombospondin type-1
                     domain-containing protein 1; thrombospondin, type I,
                     domain containing 1"
                     /codon_start=1
                     /product="thrombospondin type-1 domain-containing protein
                     1 isoform 1 precursor"
                     /protein_id="NP_061146.1"
                     /db_xref="CCDS:CCDS9432.1"
                     /db_xref="GeneID:55901"
                     /db_xref="HGNC:HGNC:17754"
                     /db_xref="MIM:616821"
                     /translation="MKPMLKDFSNLLLVVLCDYVLGEAEYLLLREPGHVALSNDTVYV
                     DFQYFDGANGTLRNVSVLLLEANTNQTVTTKYLLTNQSQGTLKFECFYFKEAGDYWFT
                     MTPEATDNSTPFPWWEKSAFLKVEWPVFHVDLNRSAKAAEGTFQVGLFTSQPLCPFPV
                     DKPNIVVDVIFTNSLPEARRNSRQPLEIRTSKRTELAQGQWVEFGCAPLGPEAYVTVV
                     LKLLGRDSVITSTGPIDLAQKFGYKLVMVPELTCESGVEVTVLPPPCTFVQGVVTVFK
                     EAPRYPGKRTIHLAENSLPLGERRTIFNCTLFDMGKNKYCFDFGISSRSHFSAKEECM
                     LIQRNTETWGLWQPWSQCSATCGDGVRERRRVCLTSFPSSPVCPGMSLEASLCSLEEC
                     AAFQPSSPSPLQPQGPVKSNNIVTVTGISLCLFIIIATVLITLWRRFGRPAKCSTPAR
                     HNSIHSPSFRKNSDEENICELSEQRGSFSDGGDGPTGSPGDTGIPLTYRRSGPVPPED
                     DASGSESFQSNAQKIIPPLFSYRLAQQQLKEMKKKGLTETTKVYHVSQSPLTDTAIDA
                     APSAPLDLESPEEAAANKFRIKSPFPEQPAVSAGERPPSRLDLNVTQASCAISPSQTL
                     IRKSQARHVGSRGGPSERSHARNAHFRRTASFHEARQARPFRERSMSTLTPRQAPAYS
                     SRTRTCEQAEDRFRPQSRGAHLFPEKLEHFQEASGTRGPLNPLPKSYTLGQPLRKPDL
                     GDHQAGLVAGIERTEPHRARRGPSPSHKSVSRKQSSPISPKDNYQRVSSLSPSQCRKD
                     KCQSFPTHPEFAFYDNTSFGLTEAEQRMLDLPGYFGSNEEDETTSTLSVEKLVI"
     exon            282..1244
                     /gene="THSD1"
                     /gene_synonym="ANIB12; LMPHM13; TMTSP; UNQ3010"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1403
                     /gene="THSD1"
                     /gene_synonym="ANIB12; LMPHM13; TMTSP; UNQ3010"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..3026
                     /gene="THSD1"
                     /gene_synonym="ANIB12; LMPHM13; TMTSP; UNQ3010"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3006..3011
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THSD1"
                     /gene_synonym="ANIB12; LMPHM13; TMTSP; UNQ3010"
                     /note="hexamer: AATAAA"
     polyA_site      3026
                     /gene="THSD1"
                     /gene_synonym="ANIB12; LMPHM13; TMTSP; UNQ3010"
                     /note="major polyA site"
ORIGIN      
        1 gtgggagccg aacgccgcgg ggtcagggcg tgcagtctgg gacgcgggat gcttggcgct
       61 ctacctcgcc gcccctgagc cttcccgtcc gcctcgccac gcgcccggac ggcctggggt
      121 tgctgcccgt cagtctcgaa aggtgttttt ggggaaaaaa atcacaatct ggacgtgaga
      181 aaggacatga ggagactaaa gacctgggat tttgtcaatc agaatgaaac caatgttgaa
      241 agacttttca aatctattgt tggtggtact ctgtgactat gttcttggag aagctgaata
      301 tcttctcttg agagagccag gccatgtagc actaagcaac gacacagtgt atgtggattt
      361 ccagtatttt gatggtgcta atgggacact gaggaatgta tctgtcctgc tgttggaggc
      421 caacaccaat cagactgtaa ctaccaagta cctcctgacc aaccagtccc agggaacact
      481 aaagtttgag tgcttctatt tcaaggaggc tggtgactac tggttcacaa tgactccaga
      541 agcaacagac aacagcactc cattcccctg gtgggagaaa agtgcctttc tgaaggtgga
      601 atggcctgtc tttcacgttg acttgaatag gagtgccaag gcagcagaag gcaccttcca
      661 agtgggccta tttaccagtc aaccactgtg cccgtttcct gtggacaagc ccaacatcgt
      721 agtggatgtc atcttcacca acagtcttcc tgaggcaaga agaaattcaa gacagccgct
      781 ggaaataaga accagcaaaa ggacagaact tgctcaaggt cagtgggttg agtttggctg
      841 tgcacccttg gggccagaag cctatgtcac cgtggtgctg aagctgcttg ggcgagactc
      901 agtcattacc tccacaggac ccattgacct ggcccagaaa tttggataca aactggtgat
      961 ggtgccagaa ctcacatgtg agtccggggt agaggtgaca gtgctgcctc caccatgcac
     1021 cttcgtccaa ggagtggtca ctgtcttcaa ggaggccccc agataccctg ggaagaggac
     1081 cattcacttg gctgaaaaca gcctgcccct gggagagagg aggacaattt ttaactgtac
     1141 tttgtttgac atggggaaga ataagtactg ctttgacttt ggcatttcaa gcagaagcca
     1201 tttttctgca aaggaggagt gcatgctaat tcagagaaat acagaaactt ggggactgtg
     1261 gcagccatgg agccagtgta gtgccacatg tggggatggt gtcagagagc gtcgccgagt
     1321 gtgtctcact tccttcccct ccagtcctgt ctgccctgga atgtccttgg aggcctccct
     1381 gtgttccctg gaggagtgtg ctgctttcca gccatccagc ccatctcctc ttcagcccca
     1441 gggtccagtg aagtccaaca acatcgtgac tgtcactggt atatccttgt gcttgttcat
     1501 catcattgcc actgtgctca tcacgctgtg gaggaggttc ggccggccag ccaagtgcag
     1561 cacacctgct cgacacaact ccatccactc ccccagcttc cggaagaact cggacgagga
     1621 gaatatctgc gagctgagcg agcagcgcgg gagcttctcg gatgggggag acgggcccac
     1681 ggggagtcca ggggacacag gcatccctct gacctacagg cggagcgggc cggtacctcc
     1741 cgaggatgat gcctctggca gcgagagctt ccagtccaac gcccagaaga taatcccacc
     1801 tctgttcagc taccgccttg cccagcagca gttaaaggag atgaaaaaga aaggtctgac
     1861 ggaaactacc aaagtgtatc acgtgtctca gagtcccctg acagacactg ccattgatgc
     1921 ggcccccagc gctcccttag atttggaaag cccggaagaa gctgcagcaa acaagttccg
     1981 gatcaaatcc ccatttccgg agcagcccgc ggtcagtgcc ggggaaaggc ctccctccag
     2041 gctggatcta aatgtgactc aggccagttg tgccataagc cccagccaga ctctgatccg
     2101 caagtcacag gcaaggcacg tgggcagcag agggggcccg tccgaaagga gccatgccag
     2161 gaacgcccat ttcaggagga cagcgagttt ccatgaagcc aggcaggccc ggccgttccg
     2221 agagaggagc atgtccactc tgactccacg gcaggcccct gcctacagct ctaggacgcg
     2281 gacctgcgag caggcagagg acagatttag gcctcagagt cgaggtgccc acctgtttcc
     2341 tgaaaaactg gagcatttcc aagaggcaag tggaacccgt ggtccattaa accctctccc
     2401 taaatcctac actttggggc agcccttgag gaaaccagac cttggggatc accaggcagg
     2461 attagtggcc ggaattgaga gaacagagcc ccacagagct cgtcggggac cgtcccccag
     2521 tcacaagagt gtctcaagga agcagtcttc tcccatatcc cccaaagata actaccagag
     2581 ggtcagttct ctgagccctt ctcagtgtag aaaagacaag tgtcaaagct tccccactca
     2641 ccctgagttt gccttctatg acaatacgtc gtttggcctc actgaggctg agcagaggat
     2701 gctggacctc ccaggatatt ttgggtcaaa tgaagaggat gaaaccacaa gtacacttag
     2761 cgtggagaag ctggtgatct agactgagaa tcagcctgag ctttacacag ctggggtctg
     2821 ctactcgcgt tttgtagact tttgtgtaac tatttgtacc gtaggacaga atgtgaggag
     2881 gaagtaacac acagaggagg atgtgtgtgt atgcatgtgt ttgaattcac aaggaagaaa
     2941 ttatttatct tgagcttttt cctttgttat tcaatttcta ttgatttatt agtaataaca
     3001 atgataataa aatgtaaatg agcaaa
//
