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MGP000543

UniProt Annotations

Entry Information
Gene Namechitinase 1 (chitotriosidase)
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q13231-1; Sequence=Displayed; Name=2; IsoId=Q13231-2; Sequence=VSP_008631, VSP_008632; Name=3; IsoId=Q13231-3; Sequence=VSP_008633; Note=Duplication of 24 bp in exon 10 leads to the use of a cryptic splice site. The normal splice site is still present but not used.; Name=4; IsoId=Q13231-4; Sequence=VSP_044816; Note=No experimental confirmation available.;
Catalytic ActivityRandom hydrolysis of N-acetyl-beta-D- glucosaminide (1->4)-beta-linkages in chitin and chitodextrins. {ECO:0000269|PubMed:15664516, ECO:0000269|PubMed:19725875, ECO:0000269|PubMed:7836450}.
FunctionDegrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity. {ECO:0000269|PubMed:7592832, ECO:0000269|PubMed:7836450}.
MiscellaneousVery high plasma levels of CHIT1 are found in patients with Gaucher disease type 1 (GD I). Can be used as diagnostic aid and to evaluate the success of treatment that brings levels back to normal.
PolymorphismA 24 bp duplication in exon 10 leads to the activation of an alternative splice site and the production of an inactive protein resulting in chitotriosidase deficiency [MIM:614122]. About 6% of the population are deficient for CHIT1 activity, while 35% are carriers and show reduced enzyme levels. People with CHIT1 deficiency appear perfectly healthy.
Sequence CautionSequence=BAG51478.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the glycosyl hydrolase 18 family. Chitinase class II subfamily. {ECO:0000305}.
SimilarityContains 1 chitin-binding type-2 domain. {ECO:0000255|PROSITE-ProRule:PRU00144}.
Subcellular LocationSecreted. Lysosome. Note=A small proportion is lysosomal.
SubunitMonomer. {ECO:0000269|PubMed:11960986, ECO:0000269|PubMed:12639956, ECO:0000269|PubMed:15664516}.
Tissue SpecificityDetected in spleen. Secreted by cultured macrophages. {ECO:0000269|PubMed:7836450}.
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