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GENE AND PROTEIN SUMMARY

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Gene name

ASL

Description

argininosuccinate lyase

Protein class

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

Protein evidence

High

Entrez gene summary

This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

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)

Cytoplasm

Additional location(s)

 

Staining summary

Staining of cytoplasm in A-431 and U-2 OS.

Reliability (Single)

Antibodies in assay

CAB003696
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Distinct cytoplasmic expression in hepatocytes and renal tubules.

Tissue specificity

Expressed in 6 out of 81 cell types

Reliability (APE)

High

Antibodies in assay

CAB003696, HPA016646
 

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 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 44% of the cancers

Antibodies in assay

CAB003696, HPA016646
 

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

CAB003696

HPA016646

CAB003696

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB003696 mAb
HPA016646 pAb