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ASL argininosuccinate lyase [ Homo sapiens (human) ]

Gene ID: 435, updated on 19-Mar-2015
Official Symbol
ASLprovided by HGNC
Official Full Name
argininosuccinate lyaseprovided by HGNC
Primary source
HGNC:HGNC:746
See related
Ensembl:ENSG00000126522; HPRD:01948; MIM:608310; Vega:OTTHUMG00000022876
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
ASAL
Summary
This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Orthologs
See ASL in MapViewer
Location:
7q11.21
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (66075789..66093343)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (65540776..65558330)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375336 Neighboring gene CGRP receptor component pseudogene Neighboring gene golgin A7 pseudogene Neighboring gene CGRP receptor component Neighboring gene tyrosylprotein sulfotransferase 1

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
argininosuccinate lyase activity EXP
Inferred from Experiment
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
arginine biosynthetic process via ornithine IEA
Inferred from Electronic Annotation
more info
 
arginine catabolic process TAS
Traceable Author Statement
more info
PubMed 
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
internal protein amino acid acetylation IDA
Inferred from Direct Assay
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
urea cycle IEA
Inferred from Electronic Annotation
more info
 
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 
Preferred Names
argininosuccinate lyase
Names
argininosuccinate lyase
argininosuccinase
arginosuccinase
NP_000039.2
NP_001020114.1
NP_001020115.1
NP_001020117.1

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_009288.1 RefSeqGene

    Range
    5001..22555
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000048.3NP_000039.2  argininosuccinate lyase isoform 1

    See proteins identical to NP_000039.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC068533, AI469765, BC008195, BX328836
    Consensus CDS
    CCDS5531.1
    UniProtKB/TrEMBL
    A0A024RDL8
    UniProtKB/Swiss-Prot
    P04424
    Related
    ENSP00000307188, OTTHUMP00000159903, ENST00000304874, OTTHUMT00000251695
    Conserved Domains (2) summary
    cd01359
    Location:27459
    Argininosuccinate_lyase; Argininosuccinate lyase (argininosuccinase, ASAL)
    PLN02646
    Location:1463
    PLN02646; argininosuccinate lyase
  2. NM_001024943.1NP_001020114.1  argininosuccinate lyase isoform 1

    See proteins identical to NP_001020114.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the longest isoform (1).
    Source sequence(s)
    AC068533, AI469765, BQ949510
    Consensus CDS
    CCDS5531.1
    UniProtKB/TrEMBL
    A0A024RDL8
    UniProtKB/Swiss-Prot
    P04424
    Conserved Domains (2) summary
    cd01359
    Location:27459
    Argininosuccinate_lyase; Argininosuccinate lyase (argininosuccinase, ASAL)
    PLN02646
    Location:1463
    PLN02646; argininosuccinate lyase
  3. NM_001024944.1NP_001020115.1  argininosuccinate lyase isoform 2

    See proteins identical to NP_001020115.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate, in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AC068533, AI469765, BQ949510, BU634268
    Consensus CDS
    CCDS47597.1
    UniProtKB/Swiss-Prot
    P04424
    Conserved Domains (2) summary
    cd01359
    Location:27439
    Argininosuccinate_lyase; Argininosuccinate lyase (argininosuccinase, ASAL)
    PLN02646
    Location:1443
    PLN02646; argininosuccinate lyase
  4. NM_001024946.1NP_001020117.1  argininosuccinate lyase isoform 3

    See proteins identical to NP_001020117.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate, in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 3).
    Source sequence(s)
    AC068533, AI469765, BQ949510
    Consensus CDS
    CCDS47598.1
    UniProtKB/Swiss-Prot
    P04424
    Related
    ENSP00000370219, OTTHUMP00000210324, ENST00000380839, OTTHUMT00000345102
    Conserved Domains (2) summary
    cd01359
    Location:27433
    Argininosuccinate_lyase; Argininosuccinate lyase (argininosuccinase, ASAL)
    PLN02646
    Location:1437
    PLN02646; argininosuccinate lyase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    66075789..66093343
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    65636440..65653994
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)