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ADSL adenylosuccinate lyase [ Homo sapiens (human) ]

Gene ID: 158, updated on 4-Jun-2020

Summary

Official Symbol
ADSLprovided by HGNC
Official Full Name
adenylosuccinate lyaseprovided by HGNC
Primary source
HGNC:HGNC:291
See related
Ensembl:ENSG00000239900 MIM:608222
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASL; AMPS; ASASE
Summary
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 carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in lymph node (RPKM 10.5), testis (RPKM 9.0) and 25 other tissues See more
Orthologs

Genomic context

See ADSL in Genome Data Viewer
Location:
22q13.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (40346500..40387489)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (40742504..40762577)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC114841040 Neighboring gene family with sequence similarity 83 member F Neighboring gene trinucleotide repeat containing adaptor 6B Neighboring gene ribosomal protein L7 pseudogene 52 Neighboring gene SGSM3 antisense RNA 1 Neighboring gene small G protein signaling modulator 3 Neighboring gene myocardin related transcription factor A Neighboring gene MRTFA antisense RNA 1 Neighboring gene uncharacterized LOC105373037

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Adenylosuccinate lyase deficiency
MedGen: C0268126 OMIM: 103050 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
'de novo' AMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
'de novo' AMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
'de novo' IMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
AMP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
aerobic respiration IEA
Inferred from Electronic Annotation
more info
 
purine nucleotide biosynthetic process IC
Inferred by Curator
more info
PubMed 
purine ribonucleoside monophosphate biosynthetic process TAS
Traceable Author Statement
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to muscle activity IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
response to starvation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
adenylosuccinate lyase
Names
adenylosuccinase
NP_000017.1
NP_001116850.1
NP_001304852.1
NP_001350769.1
XP_011528279.1
XP_011528282.1
XP_016884125.1
XP_016884126.1
XP_016884127.1
XP_016884128.1
XP_016884129.1
XP_024307934.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007993.2 RefSeqGene

    Range
    5001..27868
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000026.4NP_000017.1  adenylosuccinate lyase isoform a

    See identical proteins and their annotated locations for NP_000017.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the longest isoform (a).
    Source sequence(s)
    AF067853, AL022238, BG187609, BP298407
    Consensus CDS
    CCDS14001.1
    UniProtKB/Swiss-Prot
    P30566
    UniProtKB/TrEMBL
    X5D8S6
    Related
    ENSP00000485525.1, ENST00000623063.3
    Conserved Domains (1) summary
    cd03302
    Location:17452
    Adenylsuccinate_lyase_2; Adenylsuccinate lyase (ASL)_subgroup 2
  2. NM_001123378.2NP_001116850.1  adenylosuccinate lyase isoform b

    See identical proteins and their annotated locations for NP_001116850.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks the penultimate, in-frame coding exon compared to variant 1. The resulting isoform (b) is shorter, missing an internal protein segment compared to isoform a.
    Source sequence(s)
    AF067854, BG187609, BP298407
    Consensus CDS
    CCDS46714.1
    UniProtKB/Swiss-Prot
    P30566
    Related
    ENSP00000341429.6, ENST00000342312.9
    Conserved Domains (1) summary
    cd03302
    Location:17397
    Adenylsuccinate_lyase_2; Adenylsuccinate lyase (ASL)_subgroup 2
  3. NM_001317923.1NP_001304852.1  adenylosuccinate lyase isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate donor splice site at the 5' terminal exon, which results in translation initiation from an in-frame, downstream start codon compared to variant 1. The encoded isoform (c) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AF067853, BG187609, BP298407, KJ535056
    UniProtKB/Swiss-Prot
    P30566
    UniProtKB/TrEMBL
    X5D7W4
    Conserved Domains (1) summary
    cd03302
    Location:1388
    Adenylsuccinate_lyase_2; Adenylsuccinate lyase (ASL)_subgroup 2
  4. NM_001363840.2NP_001350769.1  adenylosuccinate lyase isoform d

    Status: REVIEWED

    Source sequence(s)
    AL022238
    Consensus CDS
    CCDS87029.1
    Related
    ENSP00000490946.1, ENST00000636714.1
    Conserved Domains (1) summary
    cd03302
    Location:17452
    Adenylsuccinate_lyase_2; Adenylsuccinate lyase (ASL)_subgroup 2

RNA

  1. NR_134256.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate donor splice site in the 3' region compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF067853, BG187609, BP298407, KJ535020

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    40346500..40387489
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529977.3XP_011528279.1  adenylosuccinate lyase isoform X1

    Conserved Domains (2) summary
    cd03302
    Location:17452
    Adenylsuccinate_lyase_2; Adenylsuccinate lyase (ASL)_subgroup 2
    TIGR00928
    Location:17460
    purB; adenylosuccinate lyase
  2. XM_011529980.3XP_011528282.1  adenylosuccinate lyase isoform X5

    Conserved Domains (1) summary
    cd03302
    Location:17397
    Adenylsuccinate_lyase_2; Adenylsuccinate lyase (ASL)_subgroup 2
  3. XM_017028636.1XP_016884125.1  adenylosuccinate lyase isoform X2

  4. XM_017028638.1XP_016884127.1  adenylosuccinate lyase isoform X7

  5. XM_024452166.1XP_024307934.1  adenylosuccinate lyase isoform X6

    Conserved Domains (1) summary
    cd03302
    Location:17382
    Adenylsuccinate_lyase_2; Adenylsuccinate lyase (ASL)_subgroup 2
  6. XM_017028639.2XP_016884128.1  adenylosuccinate lyase isoform X8

    Related
    ENSP00000485289.1, ENST00000625194.3
  7. XM_017028637.1XP_016884126.1  adenylosuccinate lyase isoform X4

    Related
    ENSP00000216194.8, ENST00000216194.11
  8. XM_017028640.1XP_016884129.1  adenylosuccinate lyase isoform X9

RNA

  1. XR_001755176.2 RNA Sequence

  2. XR_937825.3 RNA Sequence

  3. XR_002958671.1 RNA Sequence

  4. XR_002958670.1 RNA Sequence

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