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ADSL adenylosuccinate lyase [ Homo sapiens (human) ]

Gene ID: 158, updated on 5-Jan-2025

Summary

Official Symbol
ADSLprovided by HGNC
Official Full Name
adenylosuccinate lyaseprovided by HGNC
Primary source
HGNC:HGNC:291
See related
Ensembl:ENSG00000239900 MIM:608222; AllianceGenome:HGNC:291
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
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Genomic context

See ADSL in Genome Data Viewer
Location:
22q13.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (40346500..40387527)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (40817910..40858924)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (40742504..40783531)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene trinucleotide repeat containing adaptor 6B Neighboring gene ribosomal protein L7 pseudogene 52 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19082 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40591286-40591820 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40591821-40592353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40624195-40624696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40633809-40634710 Neighboring gene uncharacterized LOC124905121 Neighboring gene MPRA-validated peak4496 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr22:40740204-40740376 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40742019-40742532 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40742533-40743046 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40743047-40743559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40812395-40812894 Neighboring gene small G protein signaling modulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19091 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:40851734-40851957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19093 Neighboring gene myocardin related transcription factor A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40867879-40868537 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40894439-40894938 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40906589-40907133 Neighboring gene MRTFA antisense RNA 1 Neighboring gene uncharacterized LOC105373037

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

EBI 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.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in 'de novo' AMP biosynthetic process  
involved_in 'de novo' AMP biosynthetic process  
involved_in 'de novo' IMP biosynthetic process  
involved_in 'de novo' XMP biosynthetic process  
involved_in AMP biosynthetic process PubMed 
involved_in AMP salvage  
involved_in GMP biosynthetic process  
involved_in aerobic respiration  
involved_in purine nucleotide biosynthetic process PubMed 
involved_in response to hypoxia  
involved_in response to muscle activity  
involved_in response to nutrient  
involved_in response to starvation  
Component Evidence Code Pubs
is_active_in cytosol  
located_in cytosol  
located_in cytosol  
part_of protein-containing complex PubMed 

General protein information

Preferred Names
adenylosuccinate lyase
Names
adenylosuccinase
NP_000017.1
NP_001116850.1
NP_001304852.1
NP_001350769.1
NP_001397741.1
NP_001397743.1
NP_001397745.1
XP_016884125.1
XP_047297124.1
XP_054181166.1
XP_054181167.1

NCBI Reference Sequences (RefSeq)

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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
    B0QY76, O75495, P30566, Q5TI34
    UniProtKB/TrEMBL
    Q71UA4, X5D8S6
    Related
    ENSP00000485525.1, ENST00000623063.3
    Conserved Domains (1) summary
    cd03302
    Location:17452
    Adenylsuccinate_lyase_2; Adenylsuccinate lyase (ASL)_subgroup 2
  2. NM_001123378.3NP_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, AL022238, BG187609, BP298407
    Consensus CDS
    CCDS46714.1
    UniProtKB/TrEMBL
    A8K4X6
    Related
    ENSP00000341429.6, ENST00000342312.9
    Conserved Domains (1) summary
    cd03302
    Location:17397
    Adenylsuccinate_lyase_2; Adenylsuccinate lyase (ASL)_subgroup 2
  3. NM_001317923.2NP_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, AL022238, BG187609, BP298407, KJ535056
    UniProtKB/TrEMBL
    Q71UA4
    Conserved Domains (1) summary
    cd03302
    Location:1388
    Adenylsuccinate_lyase_2; Adenylsuccinate lyase (ASL)_subgroup 2
  4. NM_001363840.3NP_001350769.1  adenylosuccinate lyase isoform d

    Status: REVIEWED

    Source sequence(s)
    AL022238
    Consensus CDS
    CCDS87029.1
    UniProtKB/TrEMBL
    A0A1B0GTJ7, A0A1B0GWJ0
    Related
    ENSP00000490946.1, ENST00000636714.1
    Conserved Domains (1) summary
    cd03302
    Location:17452
    Adenylsuccinate_lyase_2; Adenylsuccinate lyase (ASL)_subgroup 2
  5. NM_001410812.1NP_001397741.1  adenylosuccinate lyase isoform e

    Status: REVIEWED

    Source sequence(s)
    AL022238
    Consensus CDS
    CCDS93169.1
    UniProtKB/TrEMBL
    A0A1B0GTJ7, A0A7P0Z472
    Related
    ENSP00000505244.1, ENST00000680978.1
  6. NM_001410814.1NP_001397743.1  adenylosuccinate lyase isoform f

    Status: REVIEWED

    Source sequence(s)
    AL022238
    Consensus CDS
    CCDS93171.1
    UniProtKB/TrEMBL
    A0A7P0T8E4, Q71UA4
    Related
    ENSP00000505155.1, ENST00000679723.1
  7. NM_001410816.1NP_001397745.1  adenylosuccinate lyase isoform g

    Status: REVIEWED

    Source sequence(s)
    AL022238
    Consensus CDS
    CCDS93170.1
    UniProtKB/TrEMBL
    A0A1B0GTG9, A8K4X6
    Related
    ENSP00000489696.2, ENST00000637666.2

RNA

  1. NR_134256.2 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, AL022238, BG187609, BP298407, KJ535020

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    40346500..40387527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028636.2XP_016884125.1  adenylosuccinate lyase isoform X1

    UniProtKB/TrEMBL
    A0A1B0GTJ7
    Related
    ENSP00000216194.8, ENST00000216194.11
  2. XM_047441168.1XP_047297124.1  adenylosuccinate lyase isoform X2

    UniProtKB/TrEMBL
    B4DUM2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    40817910..40858924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325191.1XP_054181166.1  adenylosuccinate lyase isoform X1

    UniProtKB/TrEMBL
    A0A1B0GTJ7
  2. XM_054325192.1XP_054181167.1  adenylosuccinate lyase isoform X2

    UniProtKB/TrEMBL
    B4DUM2
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