Gene Gene information from NCBI Gene database.
Entrez ID 80150
Gene name Asparaginase and isoaspartyl peptidase 1
Gene symbol ASRGL1
Synonyms (NCBI Gene)
ALPALP1CRASH
Chromosome 11
Chromosome location 11q12.3
miRNA miRNA information provided by mirtarbase database.
80
miRTarBase ID miRNA Experiments Reference
MIRT024570 hsa-miR-215-5p Microarray 19074876
MIRT026301 hsa-miR-192-5p Microarray 19074876
MIRT030736 hsa-miR-21-5p Microarray 18591254
MIRT803198 hsa-miR-1 CLIP-seq
MIRT803199 hsa-miR-129-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0001917 Component Photoreceptor inner segment IEA
GO:0001917 Component Photoreceptor inner segment ISS
GO:0003948 Function N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IDA 19839645
GO:0004067 Function Asparaginase activity IDA 19839645
GO:0004067 Function Asparaginase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609212 16448 ENSG00000162174
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7L266
Protein name Isoaspartyl peptidase/L-asparaginase (EC 3.4.19.5) (EC 3.5.1.1) (Asparaginase-like protein 1) (Beta-aspartyl-peptidase) (Isoaspartyl dipeptidase) (L-asparagine amidohydrolase) [Cleaved into: Isoaspartyl peptidase/L-asparaginase alpha chain; Isoaspartyl pe
Protein function Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has ca
PDB 3TKJ , 4ET0 , 4O0C , 4O0D , 4O0E , 4O0F , 4O0G , 4O0H , 4OSX , 4OSY , 4PVP , 4PVQ , 4PVR , 4PVS , 4ZM9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01112 Asparaginase_2 3 296 Asparaginase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, kidney, testis and tissues of the gastrointestinal tract. Present in sperm (at protein level). Over-expressed in uterine, mammary, prostatic and ovarian carcinoma. {ECO:0000269|PubMed:11984834, ECO:0000269|PubMed:14
Sequence
Sequence length 308
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Alanine, aspartate and glutamate metabolism
Metabolic pathways
  Phenylalanine metabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ASRGL1-related disorder Likely benign; Benign rs140693977, rs765843116, rs115409110, rs3741244, rs149188142, rs151164229, rs145379105, rs3741245 RCV003938739
RCV003956027
RCV003931144
RCV003980539
RCV003931108
RCV003921145
RCV003908854
RCV003974393
Familial cancer of breast Benign rs558946011 RCV005867138
Retinal dystrophy Uncertain significance rs751865225 RCV005370258
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 36012429
Asthenozoospermia Associate 30544396
Breast Neoplasms Associate 29767260
Carcinogenesis Associate 30696738, 36572570
Carcinoma Hepatocellular Associate 36572570
Colitis Ulcerative Associate 39596612
Collagen Diseases Associate 36012429
Colonic Neoplasms Associate 33646276, 34850851
Colorectal Neoplasms Associate 36769302
Death Associate 27625572