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ASS1 argininosuccinate synthase 1 [ Homo sapiens (human) ]

Gene ID: 445, updated on 8-Oct-2017
Official Symbol
ASS1provided by HGNC
Official Full Name
argininosuccinate synthase 1provided by HGNC
Primary source
HGNC:HGNC:758
See related
Ensembl:ENSG00000130707 MIM:603470; Vega:OTTHUMG00000020806
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]
Orthologs
Location:
9q34.11
Exon count:
18
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC105376294 Neighboring gene uncharacterized LOC100272217 Neighboring gene far upstream element binding protein 3 Neighboring gene microRNA 6856

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
amino acid binding IMP
Inferred from Mutant Phenotype
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 
Process Evidence Code Pubs
arginine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
arginine biosynthetic process IMP
Inferred from Mutant Phenotype
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 laminar fluid shear stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
citrulline metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
urea cycle IEA
Inferred from Electronic Annotation
more info
 
urea cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
urea cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
argininosuccinate synthase
Names
argininosuccinate synthetase 1
citrulline-aspartate ligase
NP_000041.2
NP_446464.1
XP_005272257.1
XP_011517007.1
XP_016870218.1

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, OTTHUMP00000022363, ENST00000372393.7, OTTHUMT00000054651
    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, OTTHUMP00000022362, ENST00000352480.9, OTTHUMT00000054650
    Conserved Domains (1) summary
    pfam00764
    Location:8401
    Arginosuc_synth; Arginosuccinate synthase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p7 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

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    133469032..133525591
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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