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GENE AND PROTEIN SUMMARY

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Gene name

ALDH5A1

Description

aldehyde dehydrogenase 5 family, member A1

Protein class

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

Protein evidence

High

Entrez gene summary

This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

4 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)

 

Staining summary

Staining of mitochondria in A-431.

Reliability (Single)

Antibodies in assay

HPA029716
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Granular cytoplasmic expression in most tissues.

Tissue specificity

Expressed in 64 out of 82 cell types

Reliability (APE)

High

Antibodies in assay

HPA029715, HPA029716
 

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 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 15
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 68% of the cancers

Antibodies in assay

HPA029715, HPA029716
 

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

HPA029715

HPA029716

HPA029716

A-431 Skin Medium
Weak
A-549 Lung Medium
CACO-2 Colon High
HEK 293 Embryonal kidney Medium
HeLa Cervix Low
Hep-G2 Liver High
MCF-7 Pleural effusion Medium
PC-3 Bone marrow Low
RT-4 Urinary bladder Medium
U-2 OS Bone Medium
U-251 MG Brain Medium

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA029715 pAb
HPA029716 pAb