HACD3 (3-hydroxyacyl-CoA dehydratase 3)

2015-08-01  

Identity

HGNC
HACD3
LOCATION
15q22.31
LOCUSID
51495
ALIAS
B-IND1,BIND1,HSPC121,PTPLAD1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51495
MIM: 615940
HGNC: 24175
Ensembl: ENSG00000074696

Variants:

dbSNP: 51495
ClinVar: 51495
TCGA: ENSG00000074696
COSMIC: HACD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000074696ENST00000261875Q9P035
ENSG00000074696ENST00000442729Q9P035
ENSG00000074696ENST00000562832H3BMZ1
ENSG00000074696ENST00000562901H3BRL8
ENSG00000074696ENST00000565299H3BS72
ENSG00000074696ENST00000566074H3BRL8
ENSG00000074696ENST00000566511H3BRL8
ENSG00000074696ENST00000568793H3BPZ1
ENSG00000074696ENST00000569894H3BRL8

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
Fatty acid elongationKEGGko00062
Biosynthesis of unsaturated fatty acidsKEGGko01040
Fatty acid elongationKEGGhsa00062
Biosynthesis of unsaturated fatty acidsKEGGhsa01040
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGhsa_M00415
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGM00415
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Fatty Acyl-CoA BiosynthesisREACTOMER-HSA-75105
Synthesis of very long-chain fatty acyl-CoAsREACTOMER-HSA-75876

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
181604382008Human butyrate-induced transcript 1 interacts with hepatitis C virus NS5A and regulates viral replication.24
225605252012Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.19
196568722009Cochaperone activity of human butyrate-induced transcript 1 facilitates hepatitis C virus replication through an Hsp90-dependent pathway.15
256875712015The last enzyme of the de novo purine synthesis pathway 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC) plays a central role in insulin signaling and the Golgi/endosomes protein network.7
303003852018A type 2 diabetes disease module with a high collective influence for Cdk2 and PTPLAD1 is localized in endosomes.1
165164062006Human B-ind1 gene promoter: cloning and regulation by histone deacetylase inhibitors.0

Citation

Dessen P

HACD3 (3-hydroxyacyl-CoA dehydratase 3)

Atlas Genet Cytogenet Oncol Haematol. 2015-08-01

Online version: http://atlasgeneticsoncology.org/gene/55355/hacd3