BDH1 (3-hydroxybutyrate dehydrogenase 1)

2014-06-01  

Identity

HGNC
BDH1
LOCATION
3q29
LOCUSID
622
ALIAS
BDH,SDR9C1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 622
MIM: 603063
HGNC: 1027
Ensembl: ENSG00000161267

Variants:

dbSNP: 622
ClinVar: 622
TCGA: ENSG00000161267
COSMIC: BDH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000161267ENST00000358186Q02338
ENSG00000161267ENST00000358186A0A384MTY4
ENSG00000161267ENST00000392378Q02338
ENSG00000161267ENST00000392378A0A384MTY4
ENSG00000161267ENST00000392379Q02338
ENSG00000161267ENST00000392379A0A384MTY4
ENSG00000161267ENST00000431056C9JEB9
ENSG00000161267ENST00000432819C9JQ90
ENSG00000161267ENST00000434143C9JM78
ENSG00000161267ENST00000441275E9PCG9
ENSG00000161267ENST00000445160C9JB83
ENSG00000161267ENST00000446746C9K0G7
ENSG00000161267ENST00000455876H7C2W1
ENSG00000161267ENST00000651856A0A494C1C0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Synthesis and degradation of ketone bodiesKEGGko00072
Butanoate metabolismKEGGko00650
Synthesis and degradation of ketone bodiesKEGGhsa00072
Butanoate metabolismKEGGhsa00650
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Ketone body metabolismREACTOMER-HSA-74182
Synthesis of Ketone BodiesREACTOMER-HSA-77111
Utilization of Ketone BodiesREACTOMER-HSA-77108

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
217910852011Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.64
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17

Citation

Dessen P

BDH1 (3-hydroxybutyrate dehydrogenase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53981/bdh1-(3-hydroxybutyrate-dehydrogenase-1)