THSD1 (thrombospondin type 1 domain containing 1)

2008-08-01  

Identity

HGNC
THSD1
LOCATION
13q14.3
LOCUSID
55901
ALIAS
ANIB12,TMTSP,UNQ3010
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
N/A

References

Pubmed IDYearTitleCitations
153714592004Thrombospondin induces RhoA inactivation through FAK-dependent signaling to stimulate focal adhesion disassembly.30
170475442006Immunolocalization of thrombospondin in the human and sand rat intervertebral disc.9
184036382008Monochromosome transfer and microarray analysis identify a critical tumor-suppressive region mapping to chromosome 13q14 and THSD1 in esophageal carcinoma.8
268222282016THSD1 preserves vascular integrity and protects against intraplaque haemorrhaging in ApoE-/- mice.8
226648662012Genome-wide screening for methylation-silenced genes in colorectal cancer.7
278953002016THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage.7
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.3
290696462017The Intracranial Aneurysm Gene THSD1 Connects Endosome Dynamics to Nascent Focal Adhesion Assembly.2

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