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GENE AND PROTEIN SUMMARY

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Gene name

BCKDHA

Description

branched chain keto acid dehydrogenase E1, alpha polypeptide

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins

Protein evidence

Medium

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

5 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nuclear membrane

Additional location(s)

Nucleus but not nucleoli, Mitochondria 

Staining summary

Staining of nucleus and nuclear membrane in all three cell lines with additional staining of mitochondria in A-431.

Reliability (Single)

Antibodies in assay

HPA036640
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Normal tissues showed strong granular cytoplasmic staining. Bile duct cells displayed weak positivity. Purkinje cells, cells in seminiferus ducts and skeletal myocytes showed strong cytoplasmic and nuclear staining.

Tissue specificity

Staining in 79 out of 79 cell types

Reliability (Single)

Antibodies in assay

HPA036640
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 12
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 100% of the cancers

Antibodies in assay

HPA036640
 

Tissue

Cancer staining

Normal tissue
staining

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Normal tissue
staining

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

 

HPA036640

A-431 Skin High

-

Moderate
A-549 Lung High

-

CACO-2 Colon Medium

-

HEK 293 Embryonal kidney High

-

HeLa Cervix Medium

-

Hep-G2 Liver Medium

-

MCF-7 Pleural effusion High

-

PC-3 Bone marrow Medium

-

RT-4 Urinary bladder Medium

-

U-2 OS Bone Medium

-

Strong
U-251 MG Brain Medium

-

Strong

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

Also mapped to

HPA036640 pAb
CTC-435M10.3 (100%)