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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
173955882007O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamily.37
118050972002Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix.27
196717002009Post-translational modification of thrombospondin type-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan.26
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
198248862009Association and interaction analyses of eight genes under asthma linkage peaks.4
291584972017Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women.3
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.2
307141432019ADAMTSL1 and mandibular prognathism.1

Citation

Dessen P

ADAMTSL1 (ADAMTS like 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46643/adamtsl1