ASS1

GENE INFORMATION

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Gene name

ASS1 (HGNC Symbol)

Synonyms

ASS, CTLN1

Description

argininosuccinate synthase 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

9 (Chromosome progress)

Cytoband

q34.11

Chromosome location (bp)

133320316 - 133376661

Ensembl

ENSG00000130707 (version 73.37)

Entrez gene

445

UniProt

P00966 (UniProt - Evidence at protein level)

neXtProt

NX_P00966

Antibodypedia

ASS1 antibodies
 

PROTEIN VIEW

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ASS1-001
 
ASS1-002
 
ASS1-003
 
ASS1-004
 
ASS1-005
 
ASS1-010
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ASS1-001 ENSP00000361461
ENST00000372386
Q5T6L7
Show all »
Show » 169 19 No 0
ASS1-002 ENSP00000253004
ENST00000352480
P00966
Show all »
Show » Show » 412 46.5 No 0
ASS1-003 ENSP00000361469
ENST00000372393
P00966
Show all »
Show » Show » 412 46.5 No 0
ASS1-004 ENSP00000361471
ENST00000372394
P00966
Show all »
Show » Show » 412 46.5 No 0
ASS1-005 ENSP00000394212
ENST00000422569
Q5T6L6
Show all »
Show » 198 22.4 No 0
ASS1-010 ENSP00000397785
ENST00000443588
Q5T6L5
Show all »
Show » 179 20.3 No 0