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Aliases for THSD1 Gene

Aliases for THSD1 Gene

  • Thrombospondin Type 1 Domain Containing 1 2 3 5
  • Transmembrane Molecule With Thrombospondin Module 3 4
  • TMTSP 3 4
  • Thrombospondin Type-1 Domain-Containing Protein 1 3
  • Thrombospondin, Type I, Domain Containing 1 3
  • Thrombospondin, Type I, Domain 1 2
  • 4833423O18Rik 3
  • UNQ3010 3

External Ids for THSD1 Gene

Previous GeneCards Identifiers for THSD1 Gene

  • GC13M046946
  • GC13M051887
  • GC13M050749
  • GC13M051849
  • GC13M052935
  • GC13M033689

Summaries for THSD1 Gene

Entrez Gene Summary for THSD1 Gene

  • 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]

GeneCards Summary for THSD1 Gene

THSD1 (Thrombospondin Type 1 Domain Containing 1) is a Protein Coding gene. Diseases associated with THSD1 include Intracranial Aneurysm and Cerebral Arterial Disease. Among its related pathways are Metabolism of proteins and O-linked glycosylation.

Gene Wiki entry for THSD1 Gene

Additional gene information for THSD1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THSD1 Gene

Genomics for THSD1 Gene

GeneHancer (GH) Regulatory Elements for THSD1 Gene

Promoters and enhancers for THSD1 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
GH13I052404 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +1.0 994 2.6 ZSCAN5A KLF1 FOXA2 SIN3A ZNF76 YY1 ZNF335 ZFHX2 GLIS2 POLR2A THSD1 TPTE2P2 HNRNPA1L2 RNY4P24
GH13I052448 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.8 -43.3 -43300 3 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF207 ZNF143 SP5 VPS36 CKAP2 TPTE2P2 THSD1
GH13I052453 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.8 -48.9 -48928 4.3 PKNOX1 SMAD1 FOXA2 ARID4B SIN3A IRF4 POLR2B ZNF766 ZNF207 ZNF143 CKAP2 ENSG00000278238 TPTE2P2 THSD1 ALG11 NEK5 GC13M052475
GH13I052371 Enhancer 0.9 Ensembl ENCODE 11.8 +34.4 34395 1.1 SOX13 FOXA2 JUN FEZF1 HIC1 FOSL1 ZFHX2 GLIS2 POLR2A PATZ1 CKAP2 TPTE2P2 THSD1 LOC105370207 GC13P052401
GH13I052427 Enhancer 0.6 ENCODE 12.6 -22.1 -22074 3 SOX5 SOX13 FOXA2 SAP130 TEAD1 ZNF189 SOX6 JUN CBFA2T3 TEAD3 VPS36 TPTE2P2 THSD1 CKAP2 UTP14C ALG11 NEK5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around THSD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the THSD1 gene promoter:

Genomic Locations for THSD1 Gene

Genomic Locations for THSD1 Gene
chr13:52,377,167-52,406,494
(GRCh38/hg38)
Size:
29,328 bases
Orientation:
Minus strand
chr13:52,951,302-52,980,629
(GRCh37/hg19)

Genomic View for THSD1 Gene

Genes around THSD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THSD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THSD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THSD1 Gene

Proteins for THSD1 Gene

  • Protein details for THSD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NS62-THSD1_HUMAN
    Recommended name:
    Thrombospondin type-1 domain-containing protein 1
    Protein Accession:
    Q9NS62
    Secondary Accessions:
    • A2A3J3
    • B2RCF5
    • Q6P3U1
    • Q6UXZ2

    Protein attributes for THSD1 Gene

    Size:
    852 amino acids
    Molecular mass:
    94584 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for THSD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THSD1 Gene

Post-translational modifications for THSD1 Gene

  • Glycosylation at posLast=3939, isoforms=2, 353, posLast=5858, posLast=6969, isoforms=2, 380, isoforms=2, 3135, and isoforms=2, 3304
  • Modification sites at PhosphoSitePlus

Other Protein References for THSD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for THSD1 Gene

Domains & Families for THSD1 Gene

Gene Families for THSD1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for THSD1 Gene

Suggested Antigen Peptide Sequences for THSD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with THSD1: view

No data available for UniProtKB/Swiss-Prot for THSD1 Gene

Function for THSD1 Gene

genes like me logo Genes that share phenotypes with THSD1: view

Animal Models for THSD1 Gene

MGI Knock Outs for THSD1:

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for THSD1 Gene

Localization for THSD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for THSD1 Gene

Isoform 1: Membrane; Single-pass type I membrane protein.
Isoform 2: Membrane; Single-pass type I membrane protein.
Isoform 3: Secreted.

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 THSD1 gene
Compartment Confidence
extracellular 5
cytosol 5
plasma membrane 3
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for THSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with THSD1: view

Drugs & Compounds for THSD1 Gene

No Compound Related Data Available

Transcripts for THSD1 Gene

mRNA/cDNA for THSD1 Gene

Unigene Clusters for THSD1 Gene

Thrombospondin, type I, domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for THSD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2: - - -

Relevant External Links for THSD1 Gene

GeneLoc Exon Structure for
THSD1
ECgene alternative splicing isoforms for
THSD1

Expression for THSD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for THSD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for THSD1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for THSD1 Gene



Protein tissue co-expression partners for THSD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of THSD1 Gene:

THSD1

SOURCE GeneReport for Unigene cluster for THSD1 Gene:

Hs.325667

Evidence on tissue expression from TISSUES for THSD1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with THSD1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for THSD1 Gene

Orthologs for THSD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for THSD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THSD1 33 34
  • 98.88 (n)
dog
(Canis familiaris)
Mammalia THSD1 33 34
  • 83.26 (n)
cow
(Bos Taurus)
Mammalia THSD1 33 34
  • 81.78 (n)
mouse
(Mus musculus)
Mammalia Thsd1 33 16 34
  • 80.53 (n)
rat
(Rattus norvegicus)
Mammalia Thsd1 33
  • 79.81 (n)
oppossum
(Monodelphis domestica)
Mammalia THSD1 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 62 (a)
OneToMany
-- 34
  • 43 (a)
OneToMany
chicken
(Gallus gallus)
Aves THSD1 33 34
  • 65.71 (n)
lizard
(Anolis carolinensis)
Reptilia THSD1 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia thsd1 33
  • 56.13 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC797520 33
  • 49.92 (n)
THSD1 34
  • 35 (a)
OneToOne
Species where no ortholog for THSD1 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 THSD1 Gene

ENSEMBL:
Gene Tree for THSD1 (if available)
TreeFam:
Gene Tree for THSD1 (if available)

Paralogs for THSD1 Gene

Pseudogenes.org Pseudogenes for THSD1 Gene

genes like me logo Genes that share paralogs with THSD1: view

No data available for Paralogs for THSD1 Gene

Variants for THSD1 Gene

Sequence variations from dbSNP and Humsavar for THSD1 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs786205669 likely-pathogenic, Non-immune hydrops fetalis 52,397,636(-) C/T coding_sequence_variant, missense_variant
rs9536062 likely-pathogenic, Non-immune hydrops fetalis 52,397,583(-) G/A/C coding_sequence_variant, missense_variant, stop_gained
rs1000042229 -- 52,381,997(-) T/G intron_variant
rs1000145550 -- 52,401,733(-) T/A intron_variant
rs1000182045 -- 52,402,000(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for THSD1 Gene

Variant ID Type Subtype PubMed ID
esv3580642 CNV loss 25503493
esv3632091 CNV loss 21293372
esv994275 CNV loss 20482838
nsv1110855 OTHER inversion 24896259
nsv428288 CNV loss 18775914
nsv7242 OTHER inversion 18451855
nsv983589 CNV duplication 23825009

Variation tolerance for THSD1 Gene

Residual Variation Intolerance Score: 9.63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.55; 72.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THSD1 Gene

Human Gene Mutation Database (HGMD)
THSD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
THSD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THSD1 Gene

Disorders for THSD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for THSD1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
intracranial aneurysm
  • brain aneurysm
cerebral arterial disease
  • cerebral arterial diseases
- elite association - COSMIC cancer census association via MalaCards
Search THSD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for THSD1

genes like me logo Genes that share disorders with THSD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for THSD1 Gene

Publications for THSD1 Gene

  1. Monochromosome transfer and microarray analysis identify a critical tumor-suppressive region mapping to chromosome 13q14 and THSD1 in esophageal carcinoma. (PMID: 18403638) Ko JM … Lung ML (Molecular cancer research : MCR 2008) 3 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58

Products for THSD1 Gene

Sources for THSD1 Gene

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