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ADSL

GENERAL INFORMATION

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

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA000525 , CAB019285
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 158

UniProt

 P30566 (UniProt - Evidence at protein level)

neXtProt

 NX_P30566

Antibodypedia

 ADSL antibodies

PROTEIN BROWSER
ADSL-001
ADSL-002
ADSL-009
ADSL-010
ADSL-011
ADSL-014
ADSL-016
ADSL-017

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ADSL-001
ENSP00000485525
ENST00000623063
P30566 [Direct mapping]
Adenylosuccinate lyase
X5D8S6 [Target identity:100%; Query identity:100%]
Adenylosuccinate lyase
Show all
Enzymes
   ENZYME proteins
   Lyases
   MEMSAT3 predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0003824 [catalytic activity]
GO:0004018 [N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0006144 [purine nucleobase metabolic process]
GO:0006163 [purine nucleotide metabolic process]
GO:0006164 [purine nucleotide biosynthetic process]
GO:0006167 [AMP biosynthetic process]
GO:0006189 ['de novo' IMP biosynthetic process]
GO:0007584 [response to nutrient]
GO:0009060 [aerobic respiration]
GO:0009152 [purine ribonucleotide biosynthetic process]
GO:0009156 [ribonucleoside monophosphate biosynthetic process]
GO:0009168 [purine ribonucleoside monophosphate biosynthetic process]
GO:0014850 [response to muscle activity]
GO:0042594 [response to starvation]
GO:0044208 ['de novo' AMP biosynthetic process]
GO:0044281 [small molecule metabolic process]
GO:0051262 [protein tetramerization]
GO:0055086 [nucleobase-containing small molecule metabolic process]
GO:0070626 [(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity]
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 484 aa
54.9 kDa 		No 0
ADSL-002
ENSP00000341429
ENST00000342312
P30566 [Direct mapping]
Adenylosuccinate lyase
Show all
Enzymes
   ENZYME proteins
   Lyases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004018 [N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity]
GO:0005829 [cytosol]
GO:0006144 [purine nucleobase metabolic process]
GO:0006164 [purine nucleotide biosynthetic process]
GO:0006167 [AMP biosynthetic process]
GO:0006189 ['de novo' IMP biosynthetic process]
GO:0009152 [purine ribonucleotide biosynthetic process]
GO:0009168 [purine ribonucleoside monophosphate biosynthetic process]
GO:0044208 ['de novo' AMP biosynthetic process]
GO:0044281 [small molecule metabolic process]
GO:0051262 [protein tetramerization]
GO:0055086 [nucleobase-containing small molecule metabolic process]
GO:0070626 [(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity]
Show all
 425 aa
48.3 kDa 		No 0
ADSL-009
ENSP00000485443
ENST00000423176
A0A096LP76 [Direct mapping]
Adenylosuccinate lyase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 102 aa
11.3 kDa 		No 0
ADSL-010
ENSP00000485288
ENST00000623632
A0A096LNY5 [Direct mapping]
Adenylosuccinate lyase
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0008152 [metabolic process]
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 262 aa
29.6 kDa 		No 0
ADSL-011
ENSP00000485477
ENST00000623978
A0A096LPA2 [Direct mapping]
Adenylosuccinate lyase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0008152 [metabolic process]
Show all
 134 aa
15.3 kDa 		No 0
ADSL-014
ENSP00000485289
ENST00000625194
A0A096LNY6 [Direct mapping]
Adenylosuccinate lyase
Show all
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0008152 [metabolic process]
Show all
 360 aa
40.8 kDa 		No 0
ADSL-016
ENSP00000485202
ENST00000624027
A0A096LNT0 [Direct mapping]
Adenylosuccinate lyase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 81 aa
8.8 kDa 		No 0
ADSL-017
ENSP00000216194
ENST00000216194
A0A0A6YY92 [Direct mapping]
Adenylosuccinate lyase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004018 [N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity]
GO:0006189 ['de novo' IMP biosynthetic process]
GO:0009152 [purine ribonucleotide biosynthetic process]
GO:0044208 ['de novo' AMP biosynthetic process]
GO:0070626 [(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity]
Show all
 498 aa
56.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.