Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
445
Gene name Gene Name - the full gene name approved by the HGNC.
Argininosuccinate synthase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ASS1
Synonyms (NCBI Gene) Gene synonyms aliases
ASS, CTLN1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CTLN1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.11
Summary Summary of gene provided in NCBI Entrez Gene.
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 chromoso
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs35269064 G>A,T Pathogenic, likely-benign, benign Missense variant, coding sequence variant
rs121908636 G>A Pathogenic-likely-pathogenic Coding sequence variant, missense variant
rs121908637 G>A Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs121908638 G>A,T Conflicting-interpretations-of-pathogenicity, pathogenic, pathogenic-likely-pathogenic Coding sequence variant, missense variant
rs121908639 G>A,T Pathogenic-likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050346 hsa-miR-25-3p CLASH 23622248
MIRT049535 hsa-miR-92a-3p CLASH 23622248
MIRT043101 hsa-miR-324-5p CLASH 23622248
MIRT542076 hsa-miR-8485 HITS-CLIP 21572407
MIRT542075 hsa-miR-603 HITS-CLIP 21572407
Transcription factors
Transcription factor Regulation Reference
HIF1A Activation 19934275
MYC Activation 19934275
SP4 Activation 19934275
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000050 Process Urea cycle IBA 21873635
GO:0000050 Process Urea cycle IEA
GO:0000050 Process Urea cycle IMP 7977368, 8792870, 18473344, 27287393
GO:0000050 Process Urea cycle TAS
GO:0000052 Process Citrulline metabolic process IMP 7977368
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603470 758 ENSG00000130707
Protein
UniProt ID P00966
Protein name Argininosuccinate synthase (EC 6.3.4.5) (Citrulline--aspartate ligase)
Protein function One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline
PDB 2NZ2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00764 Arginosuc_synth 8 403 Arginosuccinate synthase Family
Tissue specificity TISSUE SPECIFICITY: Expressed in adult liver. {ECO:0000269|PubMed:1708740}.
Sequence
Sequence length 412
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Citrullinemia citrullinemia type I GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37762133
Adult onset citrullinemia type 2 Inhibit 12512993
Adult onset citrullinemia type 2 Associate 35726796
Alzheimer Disease Associate 11106581, 32119650
Attention Deficit Disorder with Hyperactivity Stimulate 39173065
Breast Neoplasms Associate 14770441, 35674458
Carcinogenesis Associate 25333458
Carcinoma Endometrioid Inhibit 28358054
Carcinoma Hepatocellular Inhibit 14770441, 28587170, 35864952
Carcinoma Hepatocellular Associate 25164070, 33856599