ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase)

2014-02-01  

Identity

HGNC
ABHD5
LOCATION
3p21.33
LOCUSID
51099
ALIAS
CGI58,IECN2,NCIE2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51099
MIM: 604780
HGNC: 21396
Ensembl: ENSG00000011198

Variants:

dbSNP: 51099
ClinVar: 51099
TCGA: ENSG00000011198
COSMIC: ABHD5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000011198ENST00000013894F8W7B5
ENSG00000011198ENST00000413300H7BZY9
ENSG00000011198ENST00000454293C9J1D1
ENSG00000011198ENST00000456453C9JBM3
ENSG00000011198ENST00000458276A0A2U3TZT9
ENSG00000011198ENST00000463153A0A2R8YG22
ENSG00000011198ENST00000642351C9J1D1
ENSG00000011198ENST00000643140A0A2R8YG27
ENSG00000011198ENST00000643477A0A2R8Y7S6
ENSG00000011198ENST00000643500A0A2R8YEZ7
ENSG00000011198ENST00000644371Q8WTS1
ENSG00000011198ENST00000644371A0A0S2Z5D6
ENSG00000011198ENST00000646378A0A2R8YER6
ENSG00000011198ENST00000646799A0A2R8YG27
ENSG00000011198ENST00000649763Q8WTS1
ENSG00000011198ENST00000649763A0A0S2Z5D6

Expression (GTEx)

0
10
20
30
40
50
60
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
Regulation of lipolysis in adipocytesKEGGhsa04923
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysisREACTOMER-HSA-163560

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
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
166792892006Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome.301
115905432001Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.118
194014572009Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.108
173083342007CGI-58 facilitates lipolysis on lipid droplets but is not involved in the vesiculation of lipid droplets caused by hormonal stimulation.71
186068222008CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.58
217577332011Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5).33
254825572014Loss of abhd5 promotes colorectal tumor development and progression by inducing aerobic glycolysis and epithelial-mesenchymal transition.33
190619692009Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.20
205206292010Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome.19
203707972010High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.18

Citation

Dessen P

ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53687/abhd5