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ASS1 argininosuccinate synthase 1 [ Homo sapiens (human) ]

Gene ID: 445, updated on 7-Apr-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
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Genomic context

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Location:
9q34.11
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (130444707..130501274)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (142649688..142706251)
105.20220307 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
  • 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. Downregulation of argininosuccinate synthase 1 (ASS1) is associated with hypoxia in placental development. Fantone S, et al. Hum Cell, 2023 May. PMID 36995581
  2. Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants. Daou M, et al. Mol Genet Genomic Med, 2023 Feb. PMID 36680390, Free PMC Article
  3. Serum extracellular vesicle-derived ASS1 is a promising predictor for the occurrence of HEV-ALF. Xiang Z, et al. J Med Virol, 2023 Jan. PMID 36562411
  4. Argininosuccinate synthase 1 suppresses tumor progression through activation of PERK/eIF2α/ATF4/CHOP axis in hepatocellular carcinoma. Kim S, et al. J Exp Clin Cancer Res, 2021 Apr 10. PMID 33838671, Free PMC Article
  5. Arginine Depletion Therapy with ADI-PEG20 Limits Tumor Growth in Argininosuccinate Synthase-Deficient Ovarian Cancer, Including Small-Cell Carcinoma of the Ovary, Hypercalcemic Type. Ji JX, et al. Clin Cancer Res, 2020 Aug 15. PMID 32409304, Free PMC Article

See all (164) 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 acute-phase response IEA
Inferred from Electronic Annotation
more info
  
involved_in arginine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
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_2023_10

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

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Chemical Information
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