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THSD1 thrombospondin type 1 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 55901, updated on 2-Nov-2024

Summary

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Official Symbol
THSD1provided by HGNC
Official Full Name
thrombospondin type 1 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:17754
See related
Ensembl:ENSG00000136114 MIM:616821; AllianceGenome:HGNC:17754
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TMTSP; ANIB12; LMPHM13; UNQ3010
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]
Expression
Broad expression in lung (RPKM 7.5), placenta (RPKM 5.7) and 21 other tissues See more
Orthologs
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Genomic context

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See THSD1 in Genome Data Viewer
Location:
13q14.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (52377167..52406172, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (51591989..51620993, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (52951302..52980307, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:52908217-52908716 Neighboring gene long intergenic non-protein coding RNA 2333 Neighboring gene uncharacterized LOC105370207 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52922389-52923588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:52951563-52952064 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:52952065-52952564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5384 Neighboring gene RNY4 pseudogene 24 Neighboring gene vacuolar protein sorting 36 homolog Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:53024355-53024935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7791 Neighboring gene CKAP2 divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Immunolocalization of thrombospondin in the human and sand rat intervertebral disc. Gruber HE, et al. Spine (Phila Pa 1976), 2006 Oct 15. PMID 17047544
  2. Monochromosome transfer and microarray analysis identify a critical tumor-suppressive region mapping to chromosome 13q14 and THSD1 in esophageal carcinoma. Ko JM, et al. Mol Cancer Res, 2008 Apr. PMID 18403638
  3. Manifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis. Al Rawi WN, et al. Am J Med Genet A, 2021 May. PMID 33569873
  4. 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. Abdelrahman HA, et al. Am J Med Genet A, 2018 Sep. PMID 30055085
  5. The Intracranial Aneurysm Gene THSD1 Connects Endosome Dynamics to Nascent Focal Adhesion Assembly. Rui YN, et al. Cell Physiol Biochem, 2017. PMID 29069646

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. THSD1 Suppresses Autophagy-Mediated Focal Adhesion Turnover by Modulating the FAK-Beclin 1 Pathway.
    Title: THSD1 Suppresses Autophagy-Mediated Focal Adhesion Turnover by Modulating the FAK-Beclin 1 Pathway.
  2. Manifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis.
    Title: Manifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis.
  3. 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.
    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.
  4. 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.
    Title: The Intracranial Aneurysm Gene THSD1 Connects Endosome Dynamics to Nascent Focal Adhesion Assembly.
  5. THSD1 mutation associated with Intracranial Aneurysm and Subarachnoid Hemorrhage.
    Title: THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage.
  6. thrombospondin type I domain 1 is a new regulator of endothelial barrier function during vascular development and protects intraplaque microvessels against haemorrhaging in advanced atherosclerotic lesions
    Title: THSD1 preserves vascular integrity and protects against intraplaque haemorrhaging in ApoE-/- mice.
  7. The THSD1 gene may play a role in the tumorigenesis of colorectal cancer
    Title: Genome-wide screening for methylation-silenced genes in colorectal cancer.
  8. These findings suggest that THSD1 is a good candidate tumor suppressor gene.
    Title: Monochromosome transfer and microarray analysis identify a critical tumor-suppressive region mapping to chromosome 13q14 and THSD1 in esophageal carcinoma.
  9. 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.
    Title: Immunolocalization of thrombospondin in the human and sand rat intervertebral disc.
  10. Thrombospondin has a role in inducing RhoA inactivation through FAK-dependent signaling to stimulate focal adhesion disassembly
    Title: Thrombospondin induces RhoA inactivation through FAK-dependent signaling to stimulate focal adhesion disassembly.
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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Aneurysm, intracranial berry, 12
MedGen: C5231484 OMIM: 618734 GeneReviews: Not available
Compare labs
Lymphatic malformation 13
MedGen: C5830279 OMIM: 620244 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC74971

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in focal adhesion assembly IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cell periphery IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in focal adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
thrombospondin type-1 domain-containing protein 1
Names
4833423O18Rik
thrombospondin, type I, domain containing 1
transmembrane molecule with thrombospondin module

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047168.1 RefSeqGene

    Range
    5323..34328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018676.4 → NP_061146.1  thrombospondin type-1 domain-containing protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_061146.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK096289, AL359513, BC063842
    Consensus CDS
    CCDS9432.1
    UniProtKB/Swiss-Prot
    A2A3J3, B2RCF5, Q6P3U1, Q6UXZ2, Q9NS62
    UniProtKB/TrEMBL
    B3KTY7
    Related
    ENSP00000258613.4, ENST00000258613.5
    Conserved Domains (1) summary
    smart00209
    Location:343 → 392
    TSP1; Thrombospondin type 1 repeats

  2. NM_199263.3 → NP_954872.1  thrombospondin type-1 domain-containing protein 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_954872.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing an in-frame coding exon compared to transcript variant 1, resulting in a shorter isoform (2) lacking an internal segment compared to isoform 1.
    Source sequence(s)
    AK096289, BC063842
    Consensus CDS
    CCDS9433.1
    UniProtKB/TrEMBL
    B3KTY7
    Related
    ENSP00000340650.4, ENST00000349258.8

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    52377167..52406172 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    51591989..51620993 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NS62.1 GenPept UniProtKB/Swiss-Prot:Q9NS62

Gene LinkOut

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