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    ASS1 argininosuccinate synthase 1 [ Homo sapiens (human) ]

    Gene ID: 445, updated on 26-Jul-2021

    Summary

    Official Symbol
    ASS1provided by HGNC
    Official Full Name
    argininosuccinate synthase 1provided by HGNC
    Primary source
    HGNC:HGNC:758
    See related
    Ensembl:ENSG00000130707 MIM:603470
    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]
    Expression
    Biased expression in kidney (RPKM 573.0), liver (RPKM 443.3) and 9 other tissues See more
    Orthologs
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    Genomic context

    See ASS1 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (130444707..130501274)
    105.20201022 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 VISTA enhancer hs1328 Neighboring gene uncharacterized LOC105376294 Neighboring gene Sharpr-MPRA regulatory region 5386 Neighboring gene uncharacterized LOC100272217

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

    General protein information

    Preferred Names
    argininosuccinate synthase
    Names
    argininosuccinate synthetase 1
    citrulline-aspartate ligase
    epididymis secretory sperm binding protein
    NP_000041.2
    NP_446464.1
    XP_005272257.1
    XP_011517007.1
    XP_016870218.1

    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_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
      ENSP00000361469.2, ENST00000372393.7
      Conserved Domains (1) summary
      pfam00764
      Location:8401
      Arginosuc_synth; Arginosuccinate synthase
    2. NM_054012.4NP_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
      ENSP00000253004.6, ENST00000352480.10
      Conserved Domains (1) summary
      pfam00764
      Location:8401
      Arginosuc_synth; Arginosuccinate synthase

    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_000009.12 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017014729.1XP_016870218.1  argininosuccinate synthase isoform X2

    2. XM_005272200.3XP_005272257.1  argininosuccinate synthase isoform X3

      See identical proteins and their annotated locations for XP_005272257.1

      UniProtKB/Swiss-Prot
      P00966
      UniProtKB/TrEMBL
      Q5T6L4
      Conserved Domains (1) summary
      pfam00764
      Location:8401
      Arginosuc_synth; Arginosuccinate synthase
    3. XM_011518705.2XP_011517007.1  argininosuccinate synthase isoform X1

      Conserved Domains (1) summary
      pfam00764
      Location:46439
      Arginosuc_synth; Arginosuccinate synthase
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