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    ASS1 argininosuccinate synthase 1 [ Homo sapiens (human) ]

    Gene ID: 445, updated on 4-Jan-2025

    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; AllianceGenome:HGNC:758
    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:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (130444707..130501274)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (142649688..142706251)
    RS_2024_09 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 OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:133296398-133297200 Neighboring gene uncharacterized LOC107987134 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:133297201-133298001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:133302089-133302636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:133303731-133304276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:133321151-133321818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:133322488-133323155 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 491 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:133328870-133329370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:133342170-133342798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:133346469-133347206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:133347207-133347943 Neighboring gene VISTA enhancer hs1328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:133355453-133356208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:133373167-133373668 Neighboring gene Sharpr-MPRA regulatory region 5386 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:133380533-133381032 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:133381216-133382062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:133394336-133394851 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:133397629-133398376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:133401147-133401648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:133401649-133402148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:133402913-133403413 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:133420171-133420671 Neighboring gene uncharacterized LOC100272217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20402 Neighboring gene uncharacterized LOC124902286 Neighboring gene far upstream element binding protein 3

    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?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding  
    enables RNA binding PubMed 
    enables amino acid binding PubMed 
    enables argininosuccinate synthase activity  
    enables argininosuccinate synthase activity PubMed 
    enables identical protein binding PubMed 
    enables protein binding PubMed 
    enables toxic substance binding  
    Items 1 - 25 of 35
    Process Evidence Code Pubs
    involved_in L-arginine biosynthetic process  
    involved_in L-arginine biosynthetic process  
    involved_in L-arginine biosynthetic process PubMed 
    involved_in acute-phase response  
    involved_in argininosuccinate metabolic process  
    involved_in argininosuccinate metabolic process PubMed 
    involved_in aspartate metabolic process PubMed 
    involved_in cellular response to amine stimulus  
    involved_in cellular response to amino acid stimulus  
    involved_in cellular response to ammonium ion  
    involved_in cellular response to cAMP  
    involved_in cellular response to dexamethasone stimulus  
    involved_in cellular response to glucagon stimulus  
    involved_in cellular response to laminar fluid shear stress PubMed 
    involved_in cellular response to lipopolysaccharide  
    involved_in cellular response to oleic acid  
    involved_in cellular response to tumor necrosis factor  
    involved_in cellular response to type II interferon  
    involved_in circadian rhythm PubMed 
    involved_in citrulline metabolic process PubMed 
    involved_in diaphragm development  
    involved_in kidney development  
    involved_in liver development  
    involved_in midgut development  
    involved_in negative regulation of leukocyte cell-cell adhesion PubMed 
    involved_in positive regulation of nitric oxide biosynthetic process PubMed 
    involved_in response to estradiol  
    involved_in response to growth hormone  
    involved_in response to mycotoxin  
    involved_in response to nutrient  
    involved_in response to xenobiotic stimulus  
    involved_in response to zinc ion  
    involved_in urea cycle  
    involved_in urea cycle  
    involved_in urea cycle PubMed 
    Items 1 - 25 of 35
    Component Evidence Code Pubs
    located_in cell body fiber  
    is_active_in cytoplasm  
    located_in cytosol PubMed 
    located_in cytosol  
    located_in extracellular exosome PubMed 
    located_in mitochondrial outer membrane  
    located_in nucleoplasm  
    located_in perikaryon  

    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

    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_011542.1 RefSeqGene

      Range
      5255..61568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000050.4 → NP_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, Q6LDL2, Q86UZ0, Q96GT4
      UniProtKB/TrEMBL
      A8KAP9, Q5T6L4
      Related
      ENSP00000361469.2, ENST00000372393.7
      Conserved Domains (1) summary
      pfam00764
      Location:8 → 401
      Arginosuc_synth; Arginosuccinate synthase
    2. NM_054012.4 → NP_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, Q6LDL2, Q86UZ0, Q96GT4
      UniProtKB/TrEMBL
      A8KAP9, Q5T6L4
      Related
      ENSP00000253004.6, ENST00000352480.10
      Conserved Domains (1) summary
      pfam00764
      Location:8 → 401
      Arginosuc_synth; Arginosuccinate synthase

    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_000009.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      142649688..142706251
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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