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    ASS1 argininosuccinate synthase 1 [ Homo sapiens (human) ]

    Gene ID: 445, updated on 13-Jun-2016
    Official Symbol
    ASS1provided by HGNC
    Official Full Name
    argininosuccinate synthase 1provided by HGNC
    Primary source
    HGNC:HGNC:758
    See related
    Ensembl:ENSG00000130707 HPRD:04590; MIM:603470; Vega:OTTHUMG00000020806
    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
    ASS; CTLN1
    Summary
    The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
    Orthologs
    Location:
    9q34.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (130444707..130501274)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (133320094..133376661)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene hemicentin 2 Neighboring gene RNA, 7SL, cytoplasmic 665, pseudogene Neighboring gene uncharacterized LOC107987134 Neighboring gene uncharacterized LOC105376294 Neighboring gene uncharacterized LOC100272217 Neighboring gene far upstream element binding protein 3 Neighboring gene microRNA 6856

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    • Homologs of the ASS1 gene: The ASS1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
    • Orthologs from Annotation Pipeline: 171 organisms have orthologs with human gene ASS1
    • Map Viewer (Mouse, Rat)

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    amino acid binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    argininosuccinate synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    toxic substance binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acute-phase response IEA
    Inferred from Electronic Annotation
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    arginine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    arginine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    argininosuccinate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    aspartate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to amine stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to ammonium ion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to glucagon stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to interferon-gamma IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to laminar fluid shear stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to oleic acid IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    citrulline metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    diaphragm development IEA
    Inferred from Electronic Annotation
    more info
     
    kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    midgut development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of leukocyte cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of nitric oxide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    response to growth hormone IEA
    Inferred from Electronic Annotation
    more info
     
    response to mycotoxin IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    urea cycle IEA
    Inferred from Electronic Annotation
    more info
     
    urea cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    urea cycle TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cell body fiber IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    argininosuccinate synthase
    Names
    argininosuccinate synthetase 1
    citrulline--aspartate ligase
    citrulline-aspartate ligase
    NP_000041.2
    NP_446464.1

    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_011542.1 RefSeqGene

      Range
      5001..61568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000050.4NP_000041.2  argininosuccinate synthase

      See identical proteins and their annotated locations for NP_000041.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer variant.
      Source sequence(s)
      AL354898, BC013224, DB496935
      Consensus CDS
      CCDS6933.1
      UniProtKB/Swiss-Prot
      P00966
      UniProtKB/TrEMBL
      Q5T6L4
      Related
      ENSP00000361469, OTTHUMP00000022363, ENST00000372393, OTTHUMT00000054651
      Conserved Domains (1) summary
      cd01999
      Location:7398
      Argininosuccinate_Synthase; Argininosuccinate synthase. The Argininosuccinate synthase is a urea cycle enzyme that catalyzes the penultimate step in arginine biosynthesis: the ATP-dependent ligation of citrulline to aspartate to form argininosuccinate, AMP and pyrophosphate . In ...
    2. NM_054012.3NP_446464.1  argininosuccinate synthase

      See identical proteins and their annotated locations for NP_446464.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC013224, DB496935
      Consensus CDS
      CCDS6933.1
      UniProtKB/Swiss-Prot
      P00966
      UniProtKB/TrEMBL
      Q5T6L4
      Related
      ENSP00000253004, OTTHUMP00000022362, ENST00000352480, OTTHUMT00000054650
      Conserved Domains (1) summary
      cd01999
      Location:7398
      Argininosuccinate_Synthase; Argininosuccinate synthase. The Argininosuccinate synthase is a urea cycle enzyme that catalyzes the penultimate step in arginine biosynthesis: the ATP-dependent ligation of citrulline to aspartate to form argininosuccinate, AMP and pyrophosphate . In ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      130444707..130501274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014729.1XP_016870218.1  

    2. XM_005272200.3XP_005272257.1  

      See identical proteins and their annotated locations for XP_005272257.1

      UniProtKB/Swiss-Prot
      P00966
      UniProtKB/TrEMBL
      Q5T6L4
      Conserved Domains (1) summary
      cd01999
      Location:7398
      Argininosuccinate_Synthase; Argininosuccinate synthase. The Argininosuccinate synthase is a urea cycle enzyme that catalyzes the penultimate step in arginine biosynthesis: the ATP-dependent ligation of citrulline to aspartate to form argininosuccinate, AMP and pyrophosphate . In ...
    3. XM_011518705.2XP_011517007.1  

      Conserved Domains (1) summary
      cd01999
      Location:45436
      Argininosuccinate_Synthase; Argininosuccinate synthase. The Argininosuccinate synthase is a urea cycle enzyme that catalyzes the penultimate step in arginine biosynthesis: the ATP-dependent ligation of citrulline to aspartate to form argininosuccinate, AMP and pyrophosphate . In ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      133469032..133525591
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)