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GENE AND PROTEIN SUMMARY

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Gene name

ABAT

Description

4-aminobutyrate aminotransferase

Protein class

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

Protein evidence

High

Entrez gene summary

4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Mitochondria

Additional location(s)

Plasma membrane 

Staining summary

Staining of mitochondria in U-2 OS and the plasma membrane in A-431.

Reliability (Single)

Antibodies in assay

HPA041690
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Granular cytoplasmic expression in most tissues.

Tissue specificity

Expressed in 51 out of 79 cell types

Reliability (APE)

High

Antibodies in assay

HPA041528, HPA041690
 

Organ

No of cell types

Protein expression

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

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 48% of the cancers

Antibodies in assay

HPA041528, HPA041690
 

Tissue

Cancer staining

Protein
expression of
normal tissue

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

Tissue

Cancer staining

Protein
expression of
normal tissue

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

 

HPA041690

A-431 Skin Low

-

Weak
A-549 Lung Low

-

CACO-2 Colon Medium

-

HEK 293 Embryonal kidney Low

-

HeLa Cervix Low

-

Hep-G2 Liver High

-

MCF-7 Pleural effusion High

-

PC-3 Bone marrow Not detected

-

RT-4 Urinary bladder Medium

-

U-2 OS Bone Medium

-

Moderate
U-251 MG Brain Low

-

Negative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA041528 pAb
HPA041690 pAb