Fields »

GENE AND PROTEIN SUMMARY

? »

Gene name

ALDH18A1

Description

aldehyde dehydrogenase 18 family, member A1

Protein class

Enzymes, Mapped to UniProt SWISS-PROT

Protein evidence

High

Entrez gene summary

This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

? »

Show image »

Main location(s)

Mitochondria

Additional location(s)

 

Staining summary

Localized to the mitochondria.

Reliability (APE)

High

Antibodies in assay

HPA008333, HPA012604
 

NORMAL TISSUE & ORGAN SUMMARY

? »

Show image »

Expression summary

Cytoplasmic expression in a majority of tissues.

Tissue specificity

Expressed in 47 out of 81 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA008333, HPA012604
 

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 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

? »

Staining summary

Antibody staining in 46% of the cancers

Antibodies in assay

HPA008333, HPA012604
 

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

HPA008333

HPA012604

HPA008333

HPA012604

A-431 Skin High
Weak
A-549 Lung High
CACO-2 Colon High

-

HEK 293 Embryonal kidney High

-

HeLa Cervix High
Hep-G2 Liver High
MCF-7 Pleural effusion High
PC-3 Bone marrow High
RT-4 Urinary bladder High
U-2 OS Bone High
WeakWeak
U-251 MG Brain High
WeakWeak

ANTIBODY SUMMARY

? »

Antibody

Clonality

Validation

HPA008333 pAb
HPA012604 pAb