Fields »

GENE AND PROTEIN SUMMARY

? »

Gene name

ALDH6A1

Description

aldehyde dehydrogenase 6 family, member A1

Protein class

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

Protein evidence

High

Entrez gene summary

This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

3 in total
2 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

? »

Show image »

Main location(s)

Mitochondria

Additional location(s)

Nucleus but not nucleoli 

Staining summary

Mainly localized to mitochondria but also to the nucleus.

Reliability (APE)

Medium

Antibodies in assay

HPA029072, HPA029073, HPA029074, HPA029075
 

NORMAL TISSUE & ORGAN SUMMARY

? »

Show image »

Expression summary

Cytoplasmic expression with a granular pattern in most epithelia. Negative in lymphoid tissues and in stromal cells.

Tissue specificity

Expressed in 48 out of 83 cell types

Reliability (APE)

High

Antibodies in assay

HPA029072, HPA029073, HPA029074, HPA029075
 

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 13
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

? »

Staining summary

Antibody staining in 73% of the cancers

Antibodies in assay

HPA029072, HPA029073, HPA029074, HPA029075
 

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

? »

RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA029072

HPA029073

HPA029074

HPA029075

HPA029072

HPA029073

HPA029074

HPA029075

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

-

U-2 OS Bone Medium
NegativeModerateNegativeModerate
U-251 MG Brain Low
NegativeWeakNegativeNegative

ANTIBODY SUMMARY

? »

Antibody

Clonality

Validation

HPA029072 pAb
HPA029073 pAb
HPA029074 pAb
HPA029075 pAb