THSD1 (thrombospondin type 1 domain containing 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 55901
Gene name Thrombospondin type 1 domain containing 1
Gene symbol THSD1
Synonyms (NCBI Gene)
ANIB12LMPHM13TMTSPUNQ3010
Chromosome 13
Chromosome location 13q14.3
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
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs9536062 G>A,C Likely-pathogenic Missense variant, stop gained, coding sequence variant
rs786205669 C>T Likely-pathogenic Coding sequence variant, missense variant
rs1594095223 G>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT1423726 hsa-miR-4289 CLIP-seq
MIRT1423727 hsa-miR-556-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27895300
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IDA 29069646
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616821 17754 ENSG00000136114
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NS62
Protein name Thrombospondin type-1 domain-containing protein 1 (Transmembrane molecule with thrombospondin module)
Protein function Is a positive regulator of nascent focal adhesion assembly, involved in the modulation of endothelial cell attachment to the extracellular matrix.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00090 TSP_1 344 → 392 Thrombospondin type 1 domain Domain
Sequence 
MKPMLKDFSNLLLVVLCDYVLGEAEYLLLREPGHVALSNDTVYVDFQYFDGANGTLRNVS
VLLLEANTNQTVTTKYLLTNQSQGTLKFECFYFKEAGDYWFTMTPEATDNSTPFPWWEKS
AFLKVEWPVFHVDLNRSAKAAEGTFQVGLFTSQPLCPFPVDKPNIVVDVIFTNSLPEARR
NSRQPLEIRTSKRTELAQGQWVEFGCAPLGPEAYVTVVLKLLGRDSVITSTGPIDLAQKF
GYKLVMVPELTCESGVEVTVLPPPCTFVQGVVTVFKEAPRYPGKRTIHLAENSLPLGERR
TIFNCTLFDMGKNKYCFDFGISSRSHFSAKEECMLIQRNTETWGLWQPWSQCSATCGDGV
RERRRVCLTSFPSSPVCPGMSLEASLCSLEECAAFQPSSPSPLQPQGPVKSNNIVTVTGI
SLCLFIIIATVLITLWRRFGRPAKCSTPARHNSIHSPSFRKNSDEENICELSEQRGSFSD
GGDGPTGSPGDTGIPLTYRRSGPVPPEDDASGSESFQSNAQKIIPPLFSYRLAQQQLKEM
KKKGLTETTKVYHVSQSPLTDTAIDAAPSAPLDLESPEEAAANKFRIKSPFPEQPAVSAG
ERPPSRLDLNVTQASCAISPSQTLIRKSQARHVGSRGGPSERSHARNAHFRRTASFHEAR
QARPFRERSMSTLTPRQAPAYSSRTRTCEQAEDRFRPQSRGAHLFPEKLEHFQEASGTRG
PLNPLPKSYTLGQPLRKPDLGDHQAGLVAGIERTEPHRARRGPSPSHKSVSRKQSSPISP
KDNYQRVSSLSPSQCRKDKCQSFPTHPEFAFYDNTSFGLTEAEQRMLDLPGYFGSNEEDE
TTSTLSVEKLVI
Sequence length 852
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aneurysm, intracranial berry, 12 Pathogenic rs1594095223 RCV000991274
Lymphatic malformation 13 Likely pathogenic; Pathogenic rs786205669, rs2547596958, rs2547597183, rs2547604512 RCV003224867
RCV003152352
RCV003152353
RCV003333901
Non-immune hydrops fetalis Likely pathogenic rs786205669 RCV000170576
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aortic aneurysm Uncertain significance rs1238167916 RCV001724756
Cervical cancer - rs141269153 RCV006078729
THSD1-related disorder Uncertain significance; Likely benign; Benign rs777279090, rs74888104, rs3803264, rs149590732, rs748443087, rs139197070, rs766057990, rs9536043, rs9536042, rs9536041, rs776724359, rs150754705, rs146860541, rs1249929003, rs143749109
View all (7 more)		 RCV003408460
RCV003919241
RCV003979647
RCV003914238
RCV003961523
RCV003959669
RCV003964054
RCV003917048
RCV003917185
RCV003917235
RCV003929431
RCV003941432
RCV003951622
RCV003959215
RCV003914337
RCV003949293
RCV003957105
RCV003922139
RCV003932025
RCV003956675
RCV003969536
RCV003926072
Vascular dementia Uncertain significance rs2137721052 RCV002051762
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30353687, 34902990
Aneurysm Associate 29069646
Cerebrovascular Disorders Associate 32367296
Depression Postpartum Associate 26036949
Embryo Loss Associate 26036949
Esophageal Neoplasms Associate 18403638
Esophageal Squamous Cell Carcinoma Inhibit 18403638
Hydrops Fetalis Associate 26036949
Infertility Associate 38274228
Infertility Female Inhibit 38274228