CHIT1

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]

Description

Chitinase 1

Tissue specificity

Tissue enhanced (bone marrow, lung, lymphoid tissue)

Predicted location

Secreted to blood

Protein family

Candidate cardiovascular disease genes
Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (203212827 - 203273641)

Ensembl ID

ENSG00000133063  (ver. 103.38)

Orthologs

Mouse Chit1: ENSMUSG00000026450

UniProt

Q13231

neXtProt

NX_Q13231

Human splice variants
Mouse splice variants

Protein structure