CHIT1 (chitinase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1118
Gene name Chitinase 1
Gene symbol CHIT1
Synonyms (NCBI Gene)
CHI3CHITCHITD
Chromosome 1
Chromosome location 1q32.1
Summary 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.
1
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.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000272 Process Polysaccharide catabolic process IEA
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds IEA
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds TAS
GO:0004568 Function Chitinase activity IBA
GO:0004568 Function Chitinase activity IDA 11085997
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600031 1936 ENSG00000133063
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (13)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Conflicting classifications of pathogenicity; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chitotriosidase deficiency Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (132)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acid cholesteryl ester hydrolase deficiency, type 2 Wolman disease BEFREE 31004967
★★★★★
★☆☆☆☆
Found in Text Mining only
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 27705887
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 22014002
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 31092718
★★★★★
★☆☆☆☆
Found in Text Mining only
Alkaptonuria Alkaptonuria BEFREE 29852277, 31462106
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 20422678
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31892365, 37348871, 40696469 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 30248366
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 25563799, 29142138, 29331073, 30134252, 30224549, 31123140, 31175169
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 30572951, 32666680 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only