ABHD1 (abhydrolase domain containing 1)

2014-11-01  

Identity

HGNC
ABHD1
LOCATION
2p23.3
LOCUSID
84696
ALIAS
LABH1

Other Information

Locus ID:

NCBI: 84696
MIM: 612195
HGNC: 17553
Ensembl: ENSG00000143994

Variants:

dbSNP: 84696
ClinVar: 84696
TCGA: ENSG00000143994
COSMIC: ABHD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143994ENST00000316470Q96SE0
ENSG00000143994ENST00000316470A0A140VJD1
ENSG00000143994ENST00000416071C9J8C2
ENSG00000143994ENST00000420647F8WBB3
ENSG00000143994ENST00000448950Q96SE0
ENSG00000143994ENST00000621324Q96SE0

Expression (GTEx)

0
50
100
150
200
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
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
345456882021Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.3
345456882021Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.3
119226112002Cloning and tissue distribution of three murine alpha/beta hydrolase fold protein cDNAs.13
119226112002Cloning and tissue distribution of three murine alpha/beta hydrolase fold protein cDNAs.13

Citation

Dessen P

ABHD1 (abhydrolase domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60046