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    ASL argininosuccinate lyase [ Homo sapiens (human) ]

    Gene ID: 435, updated on 26-Jul-2021

    Summary

    Official Symbol
    ASLprovided by HGNC
    Official Full Name
    argininosuccinate lyaseprovided by HGNC
    Primary source
    HGNC:HGNC:746
    See related
    Ensembl:ENSG00000126522 MIM:608310
    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
    ASAL
    Summary
    This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in liver (RPKM 45.2), kidney (RPKM 25.5) and 24 other tissues See more
    Orthologs
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    Genomic context

    See ASL in Genome Data Viewer
    Location:
    7q11.21
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (66075819..66093576)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (65540806..65558563)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375336 Neighboring gene CGRP receptor component pseudogene Neighboring gene golgin A7 pseudogene Neighboring gene CGRP receptor component Neighboring gene tyrosylprotein sulfotransferase 1 Neighboring gene RNA, U6 small nuclear 313, pseudogene

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables argininosuccinate lyase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in arginine biosynthetic process via ornithine IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in urea cycle IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    argininosuccinate lyase
    Names
    argininosuccinase
    arginosuccinase
    NP_000039.2
    NP_001020114.1
    NP_001020115.1
    NP_001020117.1

    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_009288.1 RefSeqGene

      Range
      5031..22788
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000048.4NP_000039.2  argininosuccinate lyase isoform 1

      See identical proteins and their annotated locations for NP_000039.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC068533, AI469765, BC008195, BX328836
      Consensus CDS
      CCDS5531.1
      UniProtKB/Swiss-Prot
      P04424
      UniProtKB/TrEMBL
      A0A024RDL8
      Related
      ENSP00000307188.9, ENST00000304874.14
      Conserved Domains (2) summary
      cd01359
      Location:27459
      Argininosuccinate_lyase; Argininosuccinate lyase (argininosuccinase, ASAL)
      PLN02646
      Location:1463
      PLN02646; argininosuccinate lyase
    2. NM_001024943.2NP_001020114.1  argininosuccinate lyase isoform 1

      See identical proteins and their annotated locations for NP_001020114.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the longest isoform (1).
      Source sequence(s)
      AC068533, AI469765, BQ949510
      Consensus CDS
      CCDS5531.1
      UniProtKB/Swiss-Prot
      P04424
      UniProtKB/TrEMBL
      A0A024RDL8
      Related
      ENSP00000378741.3, ENST00000395332.8
      Conserved Domains (2) summary
      cd01359
      Location:27459
      Argininosuccinate_lyase; Argininosuccinate lyase (argininosuccinase, ASAL)
      PLN02646
      Location:1463
      PLN02646; argininosuccinate lyase
    3. NM_001024944.2NP_001020115.1  argininosuccinate lyase isoform 2

      See identical proteins and their annotated locations for NP_001020115.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate, in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AC068533, AI469765, BQ949510, BU634268
      Consensus CDS
      CCDS47597.1
      UniProtKB/Swiss-Prot
      P04424
      Related
      ENSP00000378740.3, ENST00000395331.4
      Conserved Domains (2) summary
      cd01359
      Location:27439
      Argininosuccinate_lyase; Argininosuccinate lyase (argininosuccinase, ASAL)
      PLN02646
      Location:1443
      PLN02646; argininosuccinate lyase
    4. NM_001024946.2NP_001020117.1  argininosuccinate lyase isoform 3

      See identical proteins and their annotated locations for NP_001020117.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate, in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 3).
      Source sequence(s)
      AC068533, AI469765, BQ949510
      Consensus CDS
      CCDS47598.1
      UniProtKB/TrEMBL
      A0A0S2Z316
      Related
      ENSP00000370219.4, ENST00000380839.9
      Conserved Domains (2) summary
      cd01359
      Location:27433
      Argininosuccinate_lyase; Argininosuccinate lyase (argininosuccinase, ASAL)
      PLN02646
      Location:1437
      PLN02646; argininosuccinate lyase

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      66075819..66093576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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