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
380420312024ABHD5-CPT1B: An Important Way of Regulating Placental Lipid Metabolism in Gestational Diabetes Mellitus.0
380420312024ABHD5-CPT1B: An Important Way of Regulating Placental Lipid Metabolism in Gestational Diabetes Mellitus.0
335698122021Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.1
344499472021circFAM120A participates in repeated implantation failure by regulating decidualization via the miR-29/ABHD5 axis.4
347952382021ABHD5 inhibits YAP-induced c-Met overexpression and colon cancer cell stemness via suppressing YAP methylation.23
335698122021Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.1
344499472021circFAM120A participates in repeated implantation failure by regulating decidualization via the miR-29/ABHD5 axis.4
347952382021ABHD5 inhibits YAP-induced c-Met overexpression and colon cancer cell stemness via suppressing YAP methylation.23
320463722020Downregulated ABHD5 Aggravates Insulin Resistance of Trophoblast Cells During Gestational Diabetes Mellitus.5
321070512020Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations.4
325420552020The ATGL lipase cooperates with ABHD5 to mobilize lipids for hepatitis C virus assembly.11
327056022020CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.13
320463722020Downregulated ABHD5 Aggravates Insulin Resistance of Trophoblast Cells During Gestational Diabetes Mellitus.5
321070512020Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations.4
325420552020The ATGL lipase cooperates with ABHD5 to mobilize lipids for hepatitis C virus assembly.11

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-(abhydrolase-domain-containing-5-lysophosphatidic-acid-acyltransferase)