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CHIT1 chitinase 1 [ Homo sapiens (human) ]

Gene ID: 1118, updated on 5-Aug-2018

Summary

Official Symbol
CHIT1provided by HGNC
Official Full Name
chitinase 1provided by HGNC
Primary source
HGNC:HGNC:1936
See related
Ensembl:ENSG00000133063 MIM:600031; Vega:OTTHUMG00000042126
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CHI3; CHIT; CHITD
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]
Expression
Biased expression in bone marrow (RPKM 24.2), lung (RPKM 14.0) and 1 other tissue See more
Orthologs

Genomic context

See CHIT1 in Genome Data Viewer
Location:
1q32.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (203216079..203229732, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (203185207..203198860, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene myosin binding protein H Neighboring gene chitinase 3 like 1 Neighboring gene nucleophosmin 1 pseudogene 40 Neighboring gene long intergenic non-protein coding RNA 1353

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Chitotriosidase deficiency
MedGen: C3279902 OMIM: 614122 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00314, MGC125322

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chitin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chitin binding TAS
Traceable Author Statement
more info
PubMed 
chitinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chitinase activity TAS
Traceable Author Statement
more info
PubMed 
endochitinase activity IDA
Inferred from Direct Assay
more info
PubMed 
hydrolase activity, hydrolyzing O-glycosyl compounds TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
chitin catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chitin catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
chitin catabolic process TAS
Traceable Author Statement
more info
PubMed 
immune response NAS
Non-traceable Author Statement
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
polysaccharide catabolic process IEA
Inferred from Electronic Annotation
more info
 
polysaccharide digestion TAS
Traceable Author Statement
more info
 
response to bacterium TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IEA
Inferred from Electronic Annotation
more info
 
specific granule lumen TAS
Traceable Author Statement
more info
 
tertiary granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
chitotriosidase-1
Names
chitinase 1 (chitotriosidase)
plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase
NP_001243054.2
NP_003456.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012867.1 RefSeqGene

    Range
    5001..18654
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256125.1NP_001243054.2  chitotriosidase-1 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AI697695, AK055165, BP304256, BQ029424, BX096812
    Consensus CDS
    CCDS58057.1
    UniProtKB/Swiss-Prot
    Q13231
    Related
    ENSP00000255427.3, OTTHUMP00000217084, ENST00000255427.7, OTTHUMT00000358380
    Conserved Domains (3) summary
    cd02872
    Location:24366
    GH18_chitolectin_chitotriosidase; This conserved domain family includes a large number of catalytically inactive chitinase-like lectins (chitolectins) including YKL-39, YKL-40 (HCGP39), YM1, oviductin, and AMCase (acidic mammalian chitinase), as well as catalytically active ...
    smart00494
    Location:400447
    ChtBD2; Chitin-binding domain type 2
    smart00636
    Location:23344
    Glyco_18; Glyco_18 domain
  2. NM_003465.2NP_003456.1  chitotriosidase-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_003456.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the predominant transcript and it encodes the longest isoform (1).
    Source sequence(s)
    AC105940, BC105682, BP304256, BQ029424
    Consensus CDS
    CCDS1436.1
    UniProtKB/Swiss-Prot
    Q13231
    Related
    ENSP00000356198.1, OTTHUMP00000039092, ENST00000367229.5, OTTHUMT00000100275
    Conserved Domains (3) summary
    cd02872
    Location:24385
    GH18_chitolectin_chitotriosidase; This conserved domain family includes a large number of catalytically inactive chitinase-like lectins (chitolectins) including YKL-39, YKL-40 (HCGP39), YM1, oviductin, and AMCase (acidic mammalian chitinase), as well as catalytically active ...
    smart00494
    Location:419466
    ChtBD2; Chitin-binding domain type 2
    smart00636
    Location:23363
    Glyco_18; Glyco_18 domain

RNA

  1. NR_045784.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains two additional exons in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK309341, BP297140, BP304256, BQ029424, BX096812, BX099272
  2. NR_045785.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an additional exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC105682, BP304256, BQ029424, BX096812, BX099272, U62662

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    203216079..203229732 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001270509.1: Suppressed sequence

    Description
    NM_001270509.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
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