ADSL

GENERAL INFORMATION

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Gene name

ADSL

Gene description

Adenylosuccinate lyase

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

8
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA000525 , CAB019285
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ADSL

Synonyms

Description

Adenylosuccinate lyase (HGNC Symbol)

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]

Chromosome

22

Cytoband

q13.1

Chromosome location (bp)

40346500 - 40369367

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000239900 (version 78.38)

Entrez gene

158

UniProt

P30566 (UniProt - Evidence at protein level)

neXtProt

NX_P30566

Antibodypedia

ADSL antibodies


PROTEIN BROWSER

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ENST00000216194
 
ENST00000342312
 
ENST00000423176
 
ENST00000623063
 
ENST00000623632
 
ENST00000623978
 
ENST00000624027
 
ENST00000625194
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ADSL-001 ENSP00000485525
ENST00000623063
X5D8S6
Show all »
Show » Show » 484 54.9 No 0
ADSL-002 ENSP00000341429
ENST00000342312
P30566
Show all »
Show » Show » 425 48.3 No 0
ADSL-009 ENSP00000485443
ENST00000423176
Show » 102 11.3 No 0
ADSL-010 ENSP00000485288
ENST00000623632
Show » Show » 262 29.6 No 0
ADSL-011 ENSP00000485477
ENST00000623978
Show » Show » 134 15.3 No 0
ADSL-014 ENSP00000485289
ENST00000625194
Show » Show » 360 40.8 No 0
ADSL-016 ENSP00000485202
ENST00000624027
Show » 81 8.8 No 0
ADSL-017 ENSP00000216194
ENST00000216194
P30566
Show all »
Show » Show » 498 56.2 No 0