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GENE AND PROTEIN SUMMARY

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Gene name

ADSL

Description

adenylosuccinate lyase

Protein class

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

Protein evidence

High

Entrez gene summary

Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found 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)

Cytoplasm

Additional location(s)

 

Staining summary

Staining of cytoplasm in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA000525
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Ubiquitous cytoplasmic expression.

Tissue specificity

Expressed in 79 out of 80 cell types

Reliability (APE)

High

Antibodies in assay

HPA000525, CAB019285
 

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 12
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 93% of the cancers

Antibodies in assay

HPA000525, CAB019285
 

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

HPA000525

CAB019285

HPA000525

A-431 Skin High
Moderate
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
Moderate
U-251 MG Brain High
Moderate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA000525 pAb
CAB019285 msAb