• Gene id: 158

Gene Summary

• Gene Symbol: ADSL   Gene   UCSC   Ensembl
• Aliases: AMPS, ASASE, ASL
• Gene name: adenylosuccinate lyase
• Alternate names: adenylosuccinate lyase, adenylosuccinase,
• Gene location: 22q13.1 (40346499: 40387488)     Exons: 15     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carbox
• OMIM: 608222

SNPs

rs397515621

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.55439557G>A
NC_000015.10   g.55439557G>C
NC_000015.9   g.55731755G>A
NC_000015.9   g.55731755G>C
NG_021213.1   g.73678C>T
NG_021213.1   g.73678C>G
NM_130810.4   c.808C>T
NM_130810.4   c.808C>G
NM_130810.3   c.808C>T
NM_130810.3   c.808C>G
NM_001033559.2  

rs17115149

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102837961G>A
NC_000010.11   g.102837961G>T
NC_000010.10   g.104597718G>A
NC_000010.10   g.104597718G>T
NG_007955.1   g.4573C>T
NG_007955.1   g.4573C>A
NG_055002.1   g.689G>A
NG_055002.1   g.689G>T|SEQ=[G/A/T]|GENE=CYP17A1

rs12339229

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.28093234C>T
NC_000009.11   g.28093232C>T|SEQ=[C/T]|GENE=LINGO2

rs700519

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.51215771G>A
NC_000015.9   g.51507968G>A
NG_007982.1   g.127828C>T
NM_000103.4   c.790C>T
NM_000103.3   c.790C>T
NM_031226.3   c.790C>T
NM_031226.2   c.790C>T
NM_001347255.2   c.790C>T
NM_001347255.1   c.790C>T
NM_001347256.2   c.790C>T
NM_001347256.1   c.

rs4919686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102832492A>C
NC_000010.10   g.104592249A>C
NG_007955.1   g.10042T>G|SEQ=[A/C]|GENE=CYP17A1
CYP17A1-AS1   102724307

rs553509

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.104013293T>C
NW_004070885.1   g.149709T>C
NG_016406.2   g.5396A>G
NM_001002916.4   c.368A>G
NC_000023.10   g.103267865C>T
NP_001002916.3   p.His123Arg|SEQ=[T/C]|GENE=H2BW1

rs7885967

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.104013669G>A
NW_004070885.1   g.150085G>A
NG_016406.2   g.5020C>T
NM_001002916.4   c.-9C>T
NC_000023.10   g.103268241G>A|SEQ=[G/A]|GENE=H2BW1

rs144944885

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000022.11   g.50776483del
NC_000022.10   g.51214911del
NW_004070876.1   g.11558del|SEQ=[G/-]|GENE=RABL2B
RPL23AP82   284942

Protein Summary

• Protein general information: P30566  
  • Name: Adenylosuccinate lyase (ADSL) (ASL) (EC 4.3.2.2) (Adenylosuccinase) (ASase)
  • Length: 484  
  • Mass: 54889
  • Tissue specificity: Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1.
• Sequence:

  MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFK
  MAAEEEKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERA
  SLPTLGFTHFQPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKM
  VTEKAGFKRAFIITGQTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMR
  SERCCSLARHLMTLVMDPLQTASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQ
  ELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFT
  GRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL

• Structural information:
  • Interpro: IPR019468  IPR024083  IPR020557  IPR000362  IPR022761   IPR008948  IPR004769  
  • Prosite: PS00163
  • PDB: 2J91 2VD6 4FFX 4FLC
  • PDBsum: 2J91 2VD6 4FFX 4FLC
  • STRING: ENSP00000485525
• Other Databases: GeneCards:  ADSL  Malacards:  ADSL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070626	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity	IBA	molecular function
GO:0044208	'de novo' AMP biosynthetic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0004018	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IBA	molecular function
GO:0004018	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IEA	molecular function
GO:0009152	purine ribonucleotide biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0070626	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity	IEA	molecular function
GO:0004018	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	TAS	biological process
GO:0070626	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity	IEA	molecular function
GO:0042594	response to starvation	IEA	biological process
GO:0014850	response to muscle activity	IEA	biological process
GO:0009156	ribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009060	aerobic respiration	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0006163	purine nucleotide metabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0004018	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IEA	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0006167	AMP biosynthetic process	IEA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0044208	'de novo' AMP biosynthetic process	IEA	biological process
GO:0006189	'de novo' IMP biosynthetic process	IEA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0004018	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IDA	molecular function
GO:0006167	AMP biosynthetic process	IDA	biological process
GO:0006164	purine nucleotide biosynthetic process	IC	biological process
GO:0042802	identical protein binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00250	Alanine, aspartate and glutamate metabolism

Diseases

Associated diseases	References
Adenylosuccinate lyase deficiency	KEGG:H00197
Adenylosuccinate lyase deficiency	KEGG:H00197
Prostate cancer	PMID:3690833
Breast cancer	PMID:3690833
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)