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    ADSL adenylosuccinate lyase [ Homo sapiens (human) ]

    Gene ID: 158, updated on 9-Jun-2024

    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
    NEW
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (40346500..40387527)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (40817910..40858924)
    105.20220307 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: 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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in 'de novo' AMP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in 'de novo' AMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in 'de novo' IMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in 'de novo' XMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in AMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in AMP salvage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in GMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aerobic respiration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in purine nucleotide biosynthetic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to muscle activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of 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
    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)

    NEW Try the new Transcript table

    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_2023_10

    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