THSD1 (thrombospondin type 1 domain containing 1)

2008-08-01  

Identity

HGNC
LOCATION
13q14.3
LOCUSID
ALIAS
ANIB12,TMTSP,UNQ3010
FUSION GENES

Other Information

Locus ID:

NCBI: 55901
MIM: 616821
HGNC: 17754
Ensembl: ENSG00000136114

Variants:

dbSNP: 55901
ClinVar: 55901
TCGA: ENSG00000136114
COSMIC: THSD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136114ENST00000258613Q9NS62
ENSG00000136114ENST00000258613A0A024R064
ENSG00000136114ENST00000349258Q9NS62
ENSG00000136114ENST00000648254Q9NS62

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-glycosylation of TSR domain-containing proteinsREACTOMER-HSA-5173214
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective B3GALTL causes Peters-plus syndrome (PpS)REACTOMER-HSA-5083635

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
383968162024THSD1 Suppresses Autophagy-Mediated Focal Adhesion Turnover by Modulating the FAK-Beclin 1 Pathway.0
383968162024THSD1 Suppresses Autophagy-Mediated Focal Adhesion Turnover by Modulating the FAK-Beclin 1 Pathway.0
335698732021Manifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis.0
335698732021Manifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis.0
300550852018A 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
300550852018A 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
290696462017The Intracranial Aneurysm Gene THSD1 Connects Endosome Dynamics to Nascent Focal Adhesion Assembly.7
290696462017The Intracranial Aneurysm Gene THSD1 Connects Endosome Dynamics to Nascent Focal Adhesion Assembly.7
268222282016THSD1 preserves vascular integrity and protects against intraplaque haemorrhaging in ApoE-/- mice.17
278953002016THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage.24
268222282016THSD1 preserves vascular integrity and protects against intraplaque haemorrhaging in ApoE-/- mice.17
278953002016THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage.24
226648662012Genome-wide screening for methylation-silenced genes in colorectal cancer.11
226648662012Genome-wide screening for methylation-silenced genes in colorectal cancer.11
184036382008Monochromosome transfer and microarray analysis identify a critical tumor-suppressive region mapping to chromosome 13q14 and THSD1 in esophageal carcinoma.10

Citation

Dessen P

THSD1 (thrombospondin type 1 domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

Online version: http://atlasgeneticsoncology.org/gene/50286/thsd1