CHIT1 (chitinase 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1118
Gene name Gene Name - the full gene name approved by the HGNC.
Chitinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHIT1
Synonyms (NCBI Gene) Gene synonyms aliases
CHI3, CHIT, CHITD
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. H
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs137852607 C>T Likely-benign, affects Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(29)
miRTarBase ID miRNA Experiments Reference
MIRT890098 hsa-miR-1237 CLIP-seq
MIRT890099 hsa-miR-1248 CLIP-seq
MIRT890100 hsa-miR-197 CLIP-seq
MIRT890101 hsa-miR-224 CLIP-seq
MIRT890102 hsa-miR-4270 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0000272 Process Polysaccharide catabolic process IEA
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds TAS
GO:0004568 Function Chitinase activity IBA 21873635
GO:0004568 Function Chitinase activity IDA 11085997
GO:0004568 Function Chitinase activity TAS 9748235
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600031 1936 ENSG00000133063
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q13231
Protein name Chitotriosidase-1 (EC 3.2.1.14) (Chitinase-1)
Protein function Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity.
PDB 1GUV , 1HKI , 1HKJ , 1HKK , 1HKM , 1LG1 , 1LG2 , 1LQ0 , 1WAW , 1WB0 , 4WJX , 4WK9 , 4WKA , 4WKF , 4WKH , 5HBF , 5NR8 , 5NRA , 5NRF , 6JJR , 6JK6 , 6SO0 , 6ZE8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00704 Glyco_hydro_18 23 → 363 Glycosyl hydrolases family 18 Domain
PF01607 CBM_14 420 → 466 Chitin binding Peritrophin-A domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in spleen. Secreted by cultured macrophages. {ECO:0000269|PubMed:7836450}.
Sequence
Sequence length 466
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Amino sugar and nucleotide sugar metabolism
Metabolic pathways 		  Digestion of dietary carbohydrate
Neutrophil degranulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Gaucher disease Gaucher Disease, Gaucher Disease, Type 2 (disorder), Gaucher Disease, Type 3 (disorder), Gaucher Disease, Type 1 rs121908295, rs79653797, rs80356769, rs1064651, rs77369218, rs80356771, rs77829017, rs74500255, rs381737, rs387906315, rs121908310, rs121908298, rs76539814, rs397518433, rs121908299
View all (69 more)		 17464953
Show/Hide Text Mining Associations (45)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 31892365, 37348871, 40696469
Amyotrophic Lateral Sclerosis Associate 30572951, 32666680
Amyotrophic Lateral Sclerosis Stimulate 31937582, 40306441
Asthma Associate 19421404
Atherosclerosis Associate 32849633
Biliary Atresia Associate 40665272
Cardiovascular Diseases Associate 30311184
Colorectal Neoplasms Associate 27153562
Coronary Artery Disease Associate 23233742
Diabetic Nephropathies Associate 26589000