CHIT1 - chitinase 1 Gene
Also Known as CHI3; CHIT; CHITD
Species: Homo sapiens
About CHIT1
This gene has 9 transcripts (splice variants), 198 orthologues, 6 paralogues and is associated with 1 phenotype. Biased expression in bone marrow (RPKM 24.2), lung (RPKM 14.0) and 1 other tissue.
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. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012]
CHIT1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001256125.2 | NP_001243054.2 | chitotriosidase-1 isoform 2 precursor |
| NM_003465.3 | NP_003456.1 | chitotriosidase-1 isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables chitinase activity |
IDA
IDA: Inferred from direct assay
|
11085997 | GOA |
| enables endochitinase activity |
IDA
IDA: Inferred from direct assay
|
19725875 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
33961781 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in chitin catabolic process |
IDA
IDA: Inferred from direct assay
|
19725875 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
19725875 | GOA |
CHIT1 Protein Structure
Glyco_hydro_18: Glycosyl hydrolases family 18 (23 - 363)
CBM_14: Chitin binding Peritrophin-A domain (420 - 466)
- 0
- 100
- 200
- 300
- 400
- 466 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
chitotriosidase-1 |
|
CHIT1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CHIT1 | Q13231 | VHL | Homo sapiens | P40337 | 33961781 |
Recombinant CHIT1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P76254 | CHIT1/Chitotriosidase-1 Protein, Human (HEK293, His) | Q13231 (A22-N466) | ≥ 90%, as determined by reducing SDS-PAGE. |
CHIT1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P85101 | Chitotriosidase Antibody (YA4793) | WB, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Chitotriosidase Deficiency |
|
|
| Gaucher'S Disease |
|
|
| Gaucher Disease, Type I |
|
|
| Krabbe Disease |
|
|
| Niemann-Pick Disease |
|
|
| Filariasis |
|
|
| Niemann-Pick Disease, Type A |
|
|
| Sarcoidosis 1 |
|
|
| Plasmodium Falciparum Malaria |
|
|
| Candidiasis |
|
|
| Gangliosidosis |
|
|
| Beta-Thalassemia |
|
|
| Thalassemia |
|
|
| Lysosomal Storage Disease |
|
|
| Fabry Disease |
|
|
| Gaucher Disease, Type Iii |
|
|
| Sphingolipidosis |
|
|
| Obsessive-Compulsive Personality Disorder |
|
|
| Niemann-Pick Disease, Type B |
|
|
| Gaucher Disease, Type Iiic |
|
|
| Mycetoma |
|
|
| Pulmonary Systemic Sclerosis |
|
|
| Gm1-Gangliosidosis, Type Ii |
|
|
| Epilepsy, Idiopathic Generalized 3 |
|
|
| Cerebral Lipidosis |
|
|
| Lysosomal And Lipase Deficiency |
|
|
| Tinea Imbricata |
|
|
| Gaucher Disease, Perinatal Lethal |
|
|
| Lysosomal Acid Lipase Deficiency |
|
|
| Eumycotic Mycetoma |
|
|
| Cholesterol Ester Storage Disease |
|
|
| Multiple Sclerosis |
|
|
| Asthma |
|
|
| Hypersensitivity Reaction Type Iv Disease |
|
|
| Frontotemporal Dementia |
|
|
| Dermatomycosis |
|
|
| Alkaptonuria |
|
|
| Galactosialidosis |
|
|
| Lipid Storage Disease |
|
|
| Gm1 Gangliosidosis |
|
|
| Malaria |
|
|
| Glycogen Storage Disease Iv |
|
|
| Beta-Thalassemia Major |
|
|
| Hemochromatosis, Type 1 |
|
|
| Deficiency Anemia |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | CHIT1 | RGD | RGD:1305646 |
| Mus musculus | CHIT1 | MGD | MGI:1919134 |
| Macaca mulatta | CHIT1 | VGNC | VGNC:71038 |
| Felis catus | CHIT1 | VGNC | VGNC:60859 |
| Others | CHIT1 | NCBI |