Tissue expression of BCKDHA - Summary - The Human Protein Atlas

We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.

BCKDHA

premium

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	BCKDHA
Gene description	Branched chain keto acid dehydrogenase E1, alpha polypeptide
Protein class	Disease related genes Enzymes Plasma proteins Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	6
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Not detected
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Ubiquitous cytoplasmic expression with a granular, mitochondrial pattern.

DATA RELIABILITY
Data reliability description	Caution, targets protein from more than one gene. Presumed off target binding observed and disregarded.
Reliability score	Supported based on 1 antibody. HPA036640
	SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Not detected
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	BCKDHA (HGNC Symbol)
Synonyms	MSU, OVD1A
Description	Branched chain keto acid dehydrogenase E1, alpha polypeptide (HGNC Symbol)
Entrez gene summary	The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Chromosome	19
Cytoband	q13.2
Chromosome location (bp)	41397460 - 41431345
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000248098 (version 83.38)
Entrez gene	593
UniProt	P12694 (UniProt - Evidence at protein level)
neXtProt	NX_P12694
Antibodypedia	BCKDHA antibodies

PROTEIN BROWSER

BCKDHA-001	BCKDHA-002	BCKDHA-004	BCKDHA-006	BCKDHA-007	BCKDHA-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
BCKDHA-001 ENSP00000269980 ENST00000269980	P12694 [Direct mapping] 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial A0A024R0K3 [Target identity:100%; Query identity:100%] Branched chain keto acid dehydrogenase E1, alpha polypeptide, isoform CRA_a Show all	Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Show all	GO:0003826 [alpha-ketoacid dehydrogenase activity] GO:0003863 [3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity] GO:0005515 [protein binding] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0005947 [mitochondrial alpha-ketoglutarate dehydrogenase complex] GO:0008152 [metabolic process] GO:0009083 [branched-chain amino acid catabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0016831 [carboxy-lyase activity] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0055114 [oxidation-reduction process] Show all	445 aa 50.5 kDa	No	0
BCKDHA-002 ENSP00000416000 ENST00000457836	P12694 [Direct mapping] 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial Show all	Enzymes ENZYME proteins Oxidoreductases SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Show all	GO:0003826 [alpha-ketoacid dehydrogenase activity] GO:0003863 [3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity] GO:0005515 [protein binding] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0005947 [mitochondrial alpha-ketoglutarate dehydrogenase complex] GO:0008152 [metabolic process] GO:0009083 [branched-chain amino acid catabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0016831 [carboxy-lyase activity] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0055114 [oxidation-reduction process] Show all	448 aa 50.8 kDa	No	0
BCKDHA-004 ENSP00000445809 ENST00000541315	H0YH31 [Direct mapping] 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial Show all	SCAMPI predicted membrane proteins Predicted intracellular proteins Show all	GO:0008152 [metabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0055114 [oxidation-reduction process] Show all	211 aa 23.1 kDa	No	0
BCKDHA-006 ENSP00000445727 ENST00000544905	H0YH20 [Direct mapping] 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial Show all	Predicted intracellular proteins Show all		94 aa 10.1 kDa	No	0
BCKDHA-007 ENSP00000440345 ENST00000542943	F5GXU9 [Direct mapping] 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial Show all	SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Show all	GO:0008152 [metabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0055114 [oxidation-reduction process] Show all	328 aa 36.2 kDa	No	0
BCKDHA-201 ENSP00000471150 ENST00000595085	M0R0C8 [Direct mapping] 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial Show all	SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Show all	GO:0008152 [metabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0055114 [oxidation-reduction process] Show all	403 aa 44.3 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.