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Aliases for THBS1 Gene

Aliases for THBS1 Gene

  • Thrombospondin 1 2 3 5
  • Thrombospondin-1p180 2 3
  • TSP1 3 4
  • TSP 3 4
  • Thrombospondin-P50 3
  • Thrombospondin-1 3
  • THBS-1 3
  • TSP-1 3
  • THBS 3

External Ids for THBS1 Gene

Previous GeneCards Identifiers for THBS1 Gene

  • GC15P035240
  • GC15P032769
  • GC15P037452
  • GC15P037589
  • GC15P037660
  • GC15P039873
  • GC15P016716

Summaries for THBS1 Gene

Entrez Gene Summary for THBS1 Gene

  • The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq, Jul 2008]

GeneCards Summary for THBS1 Gene

THBS1 (Thrombospondin 1) is a Protein Coding gene. Diseases associated with THBS1 include Thrombotic Thrombocytopenic Purpura and Babesiosis. Among its related pathways are TGF-beta Receptor Signaling (WikiPathways) and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include calcium ion binding and heparin binding. An important paralog of this gene is THBS2.

UniProtKB/Swiss-Prot for THBS1 Gene

  • Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Binds heparin. May play a role in dentinogenesis and/or maintenance of dentin and dental pulp (By similarity). Ligand for CD36 mediating antiangiogenic properties. Plays a role in ER stress response, via its interaction with the activating transcription factor 6 alpha (ATF6) which produces adaptive ER stress response factors (By similarity).

Gene Wiki entry for THBS1 Gene

Additional gene information for THBS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THBS1 Gene

Genomics for THBS1 Gene

GeneHancer (GH) Regulatory Elements for THBS1 Gene

Promoters and enhancers for THBS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I039577 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 550.8 +3.1 3098 12.4 ARID4B SIN3A ZNF48 YY1 GLIS2 ZNF207 ZNF143 SP3 RXRA SP5 THBS1 FSIP1 ENSG00000276107 ENSG00000278621
GH15I039297 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 27.3 -279.3 -279278 8.1 PKNOX1 JUN MAX RAD21 BRCA1 YY1 GATA3 POLR2A FOSL2 FOS THBS1 ENSG00000259447 C15orf54 LOC105370777
GH15I039269 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.9 -309.3 -309259 5.3 PKNOX1 FOXA2 MLX ARID4B ETS1 YY1 ATF7 FOS RXRA SP5 THBS1 C15orf54 ENSG00000259447 LOC105370777
GH15I039282 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 22.7 -295.5 -295517 5.6 JUND JUN FOS THBS1 C15orf54 ENSG00000259447 LOC105370777
GH15I039429 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 15.4 -150.6 -150610 2 JUN ATF2 SP1 JUND GATA3 POLR2A IKZF1 FOS PRDM1 IKZF2 LOC105370777 THBS1 C15orf54 KNSTRN LOC105370783
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around THBS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the THBS1 gene promoter:

Genomic Locations for THBS1 Gene

Genomic Locations for THBS1 Gene
chr15:39,581,079-39,599,466
(GRCh38/hg38)
Size:
18,388 bases
Orientation:
Plus strand
chr15:39,873,280-39,891,667
(GRCh37/hg19)

Genomic View for THBS1 Gene

Genes around THBS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THBS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THBS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THBS1 Gene

Proteins for THBS1 Gene

  • Protein details for THBS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07996-TSP1_HUMAN
    Recommended name:
    Thrombospondin-1
    Protein Accession:
    P07996
    Secondary Accessions:
    • A8K6H4
    • B4E3J7
    • B9EGH6
    • Q15667
    • Q59E99

    Protein attributes for THBS1 Gene

    Size:
    1170 amino acids
    Molecular mass:
    129383 Da
    Quaternary structure:
    • Homotrimer; disulfide-linked. Interacts (via the TSP type I repeats) with HRG; the interaction blocks the antiangiogenic effect of THBS1 with CD36 (By similarity). Can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1, alpha-V/beta-3 and alpha-IIb/beta-3. Interacts (via the TSP type I repeats) with CD36; the interaction conveys an antiangiogenic effect. Interacts with ATF6 (via lumenal domain) (By similarity).
    SequenceCaution:
    • Sequence=BAD93149.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for THBS1 Gene

    Alternative splice isoforms for THBS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THBS1 Gene

Post-translational modifications for THBS1 Gene

  • Glycosylation at isoforms=2248, isoforms=2292, posLast=302302, posLast=360360, isoforms=2385, isoforms=2394, posLast=438438, isoforms=2441, posLast=450450, isoforms=2498, posLast=507507, isoforms=2638, isoforms=2708, and isoforms=21067

Other Protein References for THBS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Assay Products

  • Cloud-Clone Corp. Assay Kits for THBS1

No data available for DME Specific Peptides for THBS1 Gene

Domains & Families for THBS1 Gene

Gene Families for THBS1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for THBS1 Gene

Graphical View of Domain Structure for InterPro Entry

P07996

UniProtKB/Swiss-Prot:

TSP1_HUMAN :
  • Belongs to the thrombospondin family.
Family:
  • Belongs to the thrombospondin family.
genes like me logo Genes that share domains with THBS1: view

Function for THBS1 Gene

Molecular function for THBS1 Gene

GENATLAS Biochemistry:
thrombospondin I (140kDa),glycoprotein expressed in extracellular matrix protein involved in platelet aggregation,embryogenesis,morphogenesis,cell adhesion molecule,major activator of TGFB1
UniProtKB/Swiss-Prot Function:
Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Binds heparin. May play a role in dentinogenesis and/or maintenance of dentin and dental pulp (By similarity). Ligand for CD36 mediating antiangiogenic properties. Plays a role in ER stress response, via its interaction with the activating transcription factor 6 alpha (ATF6) which produces adaptive ER stress response factors (By similarity).

Phenotypes From GWAS Catalog for THBS1 Gene

Gene Ontology (GO) - Molecular Function for THBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IDA 18940719
GO:0001968 fibronectin binding IDA 6693501
GO:0005178 integrin binding IMP 17413041
GO:0005509 calcium ion binding NAS 9304800
GO:0005515 protein binding IPI,NAS 3402455
genes like me logo Genes that share ontologies with THBS1: view
genes like me logo Genes that share phenotypes with THBS1: view

Animal Models for THBS1 Gene

MGI Knock Outs for THBS1:

miRNA for THBS1 Gene

miRTarBase miRNAs that target THBS1

Clone Products

  • Addgene plasmids for THBS1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for THBS1 Gene

Localization for THBS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for THBS1 Gene

Endoplasmic reticulum. Sarcoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for THBS1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 4
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for THBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IDA --
GO:0005577 fibrinogen complex IDA 3997886
GO:0005615 extracellular space IDA,IEA 6777381
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum ISS --
genes like me logo Genes that share ontologies with THBS1: view

Pathways & Interactions for THBS1 Gene

genes like me logo Genes that share pathways with THBS1: view

SIGNOR curated interactions for THBS1 Gene

Activates:

Gene Ontology (GO) - Biological Process for THBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IMP 17413041
GO:0001666 response to hypoxia NAS 9304800
GO:0001937 negative regulation of endothelial cell proliferation IMP 17413041
GO:0001953 negative regulation of cell-matrix adhesion IDA 16150726
GO:0002040 sprouting angiogenesis IMP 17879962
genes like me logo Genes that share ontologies with THBS1: view

Drugs & Compounds for THBS1 Gene

(53) Drugs for THBS1 Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
CVX-045 Pharma Antibody Others 0

(51) Additional Compounds for THBS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with THBS1: view

Transcripts for THBS1 Gene

Unigene Clusters for THBS1 Gene

Thrombospondin 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for THBS1

Alternative Splicing Database (ASD) splice patterns (SP) for THBS1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a ·
SP1: - - - -
SP2:
SP3: -
SP4:
SP5:
SP6:

ExUns: 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for THBS1 Gene

GeneLoc Exon Structure for
THBS1
ECgene alternative splicing isoforms for
THBS1

Expression for THBS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for THBS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for THBS1 Gene

This gene is overexpressed in Platelet (25.4), Bone marrow mesenchymal stem cell (18.2), Amniocyte (9.7), and Peripheral blood mononuclear cells (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for THBS1 Gene



NURSA nuclear receptor signaling pathways regulating expression of THBS1 Gene:

THBS1

SOURCE GeneReport for Unigene cluster for THBS1 Gene:

Hs.164226

Evidence on tissue expression from TISSUES for THBS1 Gene

  • Heart(4.8)
  • Liver(4.8)
  • Blood(4.6)
  • Bone marrow(4.5)
  • Lung(4.4)
  • Kidney(4.1)
  • Saliva(4)
  • Skin(4)
  • Nervous system(3.9)
  • Bone(3.7)
  • Intestine(3.5)
  • Spleen(2.9)
  • Muscle(2.8)
  • Lymph node(2.6)
  • Pancreas(2.6)
  • Gall bladder(2.4)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with THBS1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for THBS1 Gene

Orthologs for THBS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for THBS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THBS1 34 33
  • 99.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia THBS1 34 33
  • 92.13 (n)
OneToOne
dog
(Canis familiaris)
Mammalia THBS1 34 33
  • 91.3 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia THBS1 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Thbs1 34 16 33
  • 89.05 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Thbs1 33
  • 88.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia THBS1 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves THBS1 34 33
  • 78.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia THBS1 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia thbs1 33
  • 75.06 (n)
zebrafish
(Danio rerio)
Actinopterygii THBS1 (2 of 2) 34
  • 80 (a)
OneToMany
thbs1b 34
  • 75 (a)
OneToMany
thbs1 33
  • 71.94 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Tsp 34 35
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToMany
Species where no ortholog for THBS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for THBS1 Gene

ENSEMBL:
Gene Tree for THBS1 (if available)
TreeFam:
Gene Tree for THBS1 (if available)

Paralogs for THBS1 Gene

Paralogs for THBS1 Gene

(5) SIMAP similar genes for THBS1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with THBS1: view

Variants for THBS1 Gene

Sequence variations from dbSNP and Humsavar for THBS1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs2228261 benign, not specified 39,588,157(+) C/T coding_sequence_variant, synonymous_variant
rs2228263 benign, not specified 39,593,100(+) T/C coding_sequence_variant, synonymous_variant
rs2229364 benign, not specified 39,587,516(+) G/A coding_sequence_variant, synonymous_variant
rs2292305 benign, not specified 39,588,621(+) A/C/G coding_sequence_variant, intron_variant, missense_variant
rs41338344 benign, not specified 39,588,617(+) C/T coding_sequence_variant, intron_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for THBS1 Gene

Variant ID Type Subtype PubMed ID
nsv832977 CNV gain 17160897
nsv1502 CNV deletion 18451855
nsv1048628 CNV gain 25217958
esv3569465 CNV gain 25503493

Variation tolerance for THBS1 Gene

Residual Variation Intolerance Score: 23.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.94; 89.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THBS1 Gene

Human Gene Mutation Database (HGMD)
THBS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
THBS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THBS1 Gene

Disorders for THBS1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for THBS1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thrombotic thrombocytopenic purpura
  • moschcowitz's syndrome
babesiosis
  • babesiasis
posterior uveal melanoma
  • medium/large size posterior uveal melanoma
peters-plus syndrome
  • krause-kivlin syndrome
corneal neovascularization
- elite association - COSMIC cancer census association via MalaCards
Search THBS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for THBS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with THBS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for THBS1 Gene

Publications for THBS1 Gene

  1. Crystal structure of the TSP-1 type 1 repeats: a novel layered fold and its biological implication. (PMID: 12391027) Tan K … Wang JH (The Journal of cell biology 2002) 3 4 22 58
  2. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PMID: 20346360) Roberts KE … Pulmonary Vascular Complications of Liver Disease Study Group (Gastroenterology 2010) 3 44 58
  3. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 44 58
  4. Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. (PMID: 20485444) Wang Y … Huang W (Journal of human genetics 2010) 3 44 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for THBS1 Gene

  • Addgene plasmids for THBS1

Sources for THBS1 Gene

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