ADAMTSL1 (ADAMTS like 1)

2007-04-01  

Identity

HGNC
ADAMTSL1
LOCATION
9p22.2
LOCUSID
92949
ALIAS
ADAMTSL-1,ADAMTSR1,C9orf94,PUNCTIN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 92949
MIM: 609198
HGNC: 14632
Ensembl: ENSG00000178031

Variants:

dbSNP: 92949
ClinVar: 92949
TCGA: ENSG00000178031
COSMIC: ADAMTSL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178031ENST00000276935Q8N6G6
ENSG00000178031ENST00000327883Q8N6G6
ENSG00000178031ENST00000380538H7BYE3
ENSG00000178031ENST00000380545Q8N6G6
ENSG00000178031ENST00000380548Q8N6G6
ENSG00000178031ENST00000380566Q8N6G6
ENSG00000178031ENST00000380570A6NIB9
ENSG00000178031ENST00000388710A2A343
ENSG00000178031ENST00000431052F8WEP3
ENSG00000178031ENST00000542621Q8N6G6
ENSG00000178031ENST00000636209A0A1B0GUM2

Expression (GTEx)

0
5
10
15
20
25
30
35
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
307141432019ADAMTSL1 and mandibular prognathism.6
307141432019ADAMTSL1 and mandibular prognathism.6
287222762017Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.12
291584972017Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women.15
287222762017Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.12
291584972017Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women.15
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
196717002009Post-translational modification of thrombospondin type-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan.31
198248862009Association and interaction analyses of eight genes under asthma linkage peaks.4
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
196717002009Post-translational modification of thrombospondin type-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan.31
198248862009Association and interaction analyses of eight genes under asthma linkage peaks.4

Citation

Dessen P

ADAMTSL1 (ADAMTS like 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46643