THSD1 - thrombospondin type 1 domain containing 1 Gene

Also Known as TMTSP; ANIB12; UNQ3010

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55901

About THSD1

Cytogenetic location: 13q14.3 Genomic coordinates (GRCh38): 13:52,377,167-52,406,172 (from NCBI)

This gene has 3 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Broad expression in lung (RPKM 7.5), placenta (RPKM 5.7) and 21 other tissues.

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]

THSD1 Products (2)

mRNA Protein Name
NM_018676.4 NP_061146.1 thrombospondin type-1 domain-containing protein 1 isoform 1 precursor
NM_199263.3 NP_954872.1 thrombospondin type-1 domain-containing protein 1 isoform 2 precursor
Molecular Function GO Annotation Evidence References Source
enables extracellular matrix binding IMP
IMP: Inferred from mutant phenotype
27895300 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
27895300 GOA
Biological Process GO Annotation Evidence References Source
involved in focal adhesion assembly IDA
IDA: Inferred from direct assay
29069646 GOA
Cellular Component GO Annotation Evidence References Source
located in endosome IDA
IDA: Inferred from direct assay
29069646 GOA
located in focal adhesion IMP
IMP: Inferred from mutant phenotype
27895300 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

THSD1 Protein Structure

TSP_1

TSP_1: Thrombospondin type 1 domain (345 - 392)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 852 a.a.
Protein Preferred Names Protein Names

thrombospondin type-1 domain-containing protein 1

  • 4833423O18Rik

Recombinant THSD1 Proteins

Cat. No. Product Name Accession Purity
HY-P71360 THSD1 Protein, Human (HEK293, His) Q9NS62-2 (E25-I361) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Aneurysm, Intracranial Berry, 12
  • ANIB12

  • Intracranial Berry Aneurysm 12

Familial Cerebral Saccular Aneurysm
  • Familial Berry Aneurysm

  • Familial Intracranial Saccular Aneurysm

Hydrops Fetalis, Nonimmune
  • Hydrops Fetalis

  • Non-Immune Hydrops Fetalis

  • NIHF

  • Familial Non-Immune Hydrops Fetalis

  • Hydrops Fetalis Nonimmune

  • Idiopathic Hydrops Fetalis

  • Hb Bart'S Hydrops Fetalis

  • Alpha-Thalassemia Hydrops Fetalis

  • Alpha-Thalassemia Major

  • Hemoglobin Bart'S Hydrops Fetalis

  • Homozygous Alpha0-Thalassemia

  • Fetal Anasarca

  • Fetal Hydrops

  • Generalized Fetal Edema

  • Hf

  • Non-Immune Hf

  • Non-Immune Fetal Edema

  • Non-Immune Fetal Hydrops

  • Hydrops Fetalis, Non-Immune

  • Hemoglobin Bart'S Hydrops Syndrome

Enterokinase Deficiency
  • Enteropeptidase Deficiency

  • Congenital Enterokinase Deficiency

  • Congenital Enteropathy Due To Enteropeptidase Deficiency

  • Deficiency Of Enteropeptidase

  • ENTKD

Cerebral Arterial Disease
  • Cerebral Arterial Diseases

Unilateral Retinoblastoma
Intracranial Berry Aneurysm
  • Familial Aneurysmal Subarachnoid Hemorrhage

  • Familial Berry Aneurysm

  • Familial Intracranial Saccular Aneurysm

  • Saccular Cerebral Aneurysm

  • Aneurysm, Intracranial Berry

  • Aneurysmal Subarachnoid Hemorrhage

  • Aneurysm, Intracranial Berry, 1

Moyamoya Disease 1
  • Moyamoya Disease

  • Spontaneous Occlusion Of The Circle Of Willis

  • Mymy

  • Progressive Intracranial Arterial Occlusion

  • Moyamoya Syndrome

  • MYMY1

  • Cerebrovascular Moyamoya Disease

  • Moya-Moya Disease

  • Progressive Intracranial Occlusive Arteropathy

  • Idiopathic Moyamoya Disease

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus THSD1 MGD MGI:1929096
Rattus norvegicus THSD1 RGD RGD:1306998
Canis familiaris THSD1 VGNC VGNC:47357
Bos taurus THSD1 VGNC VGNC:35849
Felis catus THSD1 VGNC VGNC:66175
Macaca mulatta THSD1 VGNC VGNC:78402
Others THSD1 NCBI