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

Summary

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: mouse all
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Genomic context

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_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
The THSD1 gene may play a role in the tumorigenesis of colorectal cancer
Title: Genome-wide screening for methylation-silenced genes in colorectal cancer.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

RH66294 (e-PCR)
- UniSTS:71589

GDB:335751 (e-PCR)
- UniSTS:156601

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

NG_047168.1 RefSeqGene

Range

5323..34328

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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