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    ASS1 argininosuccinate synthase 1 [ Homo sapiens (human) ]

    Gene ID: 445, updated on 28-Oct-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/β-thalassemia patients. Chalikiopoulou C, et al. Pharmacogenomics, 2016 Mar. PMID 26895070
    2. Argininosuccinate synthetase gene is silenced by CpG methylation in children with phenylketonuria. Li L, et al. Clin Biochem, 2013 Dec. PMID 24192130
    3. Argininosuccinate synthetase 1 depletion produces a metabolic state conducive to herpes simplex virus 1 infection. Grady SL, et al. Proc Natl Acad Sci U S A, 2013 Dec 17. PMID 24297925, Free PMC Article
    4. Arginine starvation impairs mitochondrial respiratory function in ASS1-deficient breast cancer cells. Qiu F, et al. Sci Signal, 2014 Apr 1. PMID 24692592, Free PMC Article
    5. Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients. Kimani JK, et al. Clin Chim Acta, 2015 Jan 1. PMID 25179242

    See all (171) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I].
      Title: [Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I].
    2. Polymorphic Variants of ASS1 Gene Related to Arginine Metabolism and the Risk of HCC.
      Title: Polymorphic Variants of ASS1 Gene Related to Arginine Metabolism and the Risk of HCC.
    3. Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
      Title: Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
    4. BAP1 Loss Is Associated with Higher ASS1 Expression in Epithelioid Mesothelioma: Implications for Therapeutic Stratification.
      Title: BAP1 Loss Is Associated with Higher ASS1 Expression in Epithelioid Mesothelioma: Implications for Therapeutic Stratification.
    5. Downregulation of argininosuccinate synthase 1 (ASS1) is associated with hypoxia in placental development.
      Title: Downregulation of argininosuccinate synthase 1 (ASS1) is associated with hypoxia in placental development.
    6. Serum extracellular vesicle-derived ASS1 is a promising predictor for the occurrence of HEV-ALF.
      Title: Serum extracellular vesicle-derived ASS1 is a promising predictor for the occurrence of HEV-ALF.
    7. PGAM1 regulation of ASS1 contributes to the progression of breast cancer through the cAMP/AMPK/CEBPB pathway.
      Title: PGAM1 regulation of ASS1 contributes to the progression of breast cancer through the cAMP/AMPK/CEBPB pathway.
    8. Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
      Title: Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
    9. Therapeutic targeting of argininosuccinate synthase 1 (ASS1)-deficient pulmonary fibrosis.
      Title: Therapeutic targeting of argininosuccinate synthase 1 (ASS1)-deficient pulmonary fibrosis.
    10. Argininosuccinate synthase 1 suppresses tumor progression through activation of PERK/eIF2alpha/ATF4/CHOP axis in hepatocellular carcinoma.
      Title: Argininosuccinate synthase 1 suppresses tumor progression through activation of PERK/eIF2α/ATF4/CHOP axis in hepatocellular carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (76)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Citrullinemia type I
    MedGen: C4721769 OMIM: 215700 GeneReviews: Urea Cycle Disorders Overview, Citrullinemia Type I
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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 L-arginine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-arginine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-arginine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in acute-phase response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in argininosuccinate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 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 cellular response to type II interferon 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 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 xenobiotic stimulus 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
    		  
    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
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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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    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
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P00966.2 GenPept UniProtKB/Swiss-Prot:P00966

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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