Format

Send to:

Choose Destination

ASL argininosuccinate lyase [ Homo sapiens (human) ]

Gene ID: 435, updated on 2-Oct-2018

Summary

Official Symbol
ASLprovided by HGNC
Official Full Name
argininosuccinate lyaseprovided by HGNC
Primary source
HGNC:HGNC:746
See related
Ensembl:ENSG00000126522 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]
Expression
Broad expression in liver (RPKM 45.2), kidney (RPKM 25.5) and 24 other tissues See more
Orthologs

Genomic context

See ASL in Genome Data Viewer
Location:
7q11.21
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 Neighboring gene RNA, U6 small nuclear 313, pseudogene

Genomic regions, transcripts, and products

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
argininosuccinate lyase activity EXP
Inferred from Experiment
more info
PubMed 
argininosuccinate lyase activity IBA
Inferred from Biological aspect of Ancestor
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
ammonia assimilation cycle IEA
Inferred from Electronic Annotation
more info
 
arginine biosynthetic process via ornithine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
post-embryonic development 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 TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
argininosuccinate lyase
Names
argininosuccinase
arginosuccinase
NP_000039.2
NP_001020114.1
NP_001020115.1
NP_001020117.1

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_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 identical proteins and their annotated locations for 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/Swiss-Prot
    P04424
    UniProtKB/TrEMBL
    A0A024RDL8
    Related
    ENSP00000307188.9, OTTHUMP00000159903, ENST00000304874.13, 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 identical proteins and their annotated locations for 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/Swiss-Prot
    P04424
    UniProtKB/TrEMBL
    A0A024RDL8
    Related
    ENSP00000378741.3, OTTHUMP00000210325, ENST00000395332.7, OTTHUMT00000345103
    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 identical proteins and their annotated locations for 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
    Related
    ENSP00000378740.3, OTTHUMP00000210326, ENST00000395331.3, OTTHUMT00000345104
    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 identical proteins and their annotated locations for 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/TrEMBL
    A0A0S2Z316
    Related
    ENSP00000370219.4, OTTHUMP00000210324, ENST00000380839.8, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

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