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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_000050.4NP_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, Q6LDL2, Q86UZ0, Q96GT4
    UniProtKB/TrEMBL
    A8KAP9, 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, Q6LDL2, Q86UZ0, Q96GT4
    UniProtKB/TrEMBL
    A8KAP9, Q5T6L4
    Related
    ENSP00000253004.6, ENST00000352480.10
    Conserved Domains (1) summary
    pfam00764
    Location:8401
    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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