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ASS1 argininosuccinate synthase 1 [ Homo sapiens (human) ]

Gene ID: 445, updated on 6-Jan-2019

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

Genomic context

See ASS1 in Genome Data Viewer
Location:
9q34.11
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (130444707..130501274)
105 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 uncharacterized LOC100272217 Neighboring gene far upstream element binding protein 3 Neighboring gene microRNA 6856

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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_054012.3NP_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, ENST00000352480.9
    Conserved Domains (1) summary
    pfam00764
    Location:8401
    Arginosuc_synth; Arginosuccinate synthase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 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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