HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta)

2019-04-01  

Identity

HGNC
HADHB
LOCATION
2p23.3
LOCUSID
3032
ALIAS
ECHB,MSTP029,MTPB,TP-BETA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3032
MIM: 143450
HGNC: 4803
Ensembl: ENSG00000138029

Variants:

dbSNP: 3032
ClinVar: 3032
TCGA: ENSG00000138029
COSMIC: HADHB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138029ENST00000317799P55084
ENSG00000138029ENST00000405867B5MD38
ENSG00000138029ENST00000412805C9K0M0
ENSG00000138029ENST00000425035C9JE81
ENSG00000138029ENST00000448743C9JEY0
ENSG00000138029ENST00000537713F5GZQ3
ENSG00000138029ENST00000545822P55084

Expression (GTEx)

0
50
100
150
200
250
300
350
400
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
Fatty acid degradationKEGGko00071
Valine, leucine and isoleucine degradationKEGGko00280
Fatty acid elongationKEGGhsa00062
Fatty acid degradationKEGGhsa00071
Valine, leucine and isoleucine degradationKEGGhsa00280
Metabolic pathwaysKEGGhsa01100
Fatty acid biosynthesis, elongation, mitochondriaKEGGhsa_M00085
beta-OxidationKEGGhsa_M00087
Fatty acid biosynthesis, elongation, mitochondriaKEGGM00085
beta-OxidationKEGGM00087
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
Mitochondrial Fatty Acid Beta-OxidationREACTOMER-HSA-77289
mitochondrial fatty acid beta-oxidation of saturated fatty acidsREACTOMER-HSA-77286
Beta oxidation of palmitoyl-CoA to myristoyl-CoAREACTOMER-HSA-77305
Beta oxidation of myristoyl-CoA to lauroyl-CoAREACTOMER-HSA-77285
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoAREACTOMER-HSA-77310
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoAREACTOMER-HSA-77346
Beta oxidation of octanoyl-CoA to hexanoyl-CoAREACTOMER-HSA-77348
Beta oxidation of hexanoyl-CoA to butanoyl-CoAREACTOMER-HSA-77350
mitochondrial fatty acid beta-oxidation of unsaturated fatty acidsREACTOMER-HSA-77288
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Acyl chain remodeling of CLREACTOMER-HSA-1482798

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
223750752012Estrogen receptor alpha interacts with mitochondrial protein HADHB and affects beta-oxidation activity.21
146309902004General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
129337942003HADHB, HuR, and CP1 bind to the distal 3'-untranslated region of human renin mRNA and differentially modulate renin expression.16
208251972010Structural and functional characterization of the recombinant human mitochondrial trifunctional protein.15
215496242011Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.10
230001592012Estrogen receptor beta interacts and colocalizes with HADHB in mitochondria.10
196991282009Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.9
246645332014Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.9
258163182015Japanese encephalitis virus nonstructural protein NS5 interacts with mitochondrial trifunctional protein and impairs fatty acid β-oxidation.9

Citation

Dessen P

HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57812/hadhb