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CHIT1 chitinase 1 [ Homo sapiens (human) ]

Gene ID: 1118, updated on 5-Mar-2024

Summary

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Official Symbol
CHIT1provided by HGNC
Official Full Name
chitinase 1provided by HGNC
Primary source
HGNC:HGNC:1936
See related
Ensembl:ENSG00000133063 MIM:600031; AllianceGenome:HGNC:1936
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
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Genomic context

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See CHIT1 in Genome Data Viewer
Location:
1q32.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (203216079..203230099, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202478845..202492868, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (203185207..203198801, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene myosin binding protein H Neighboring gene chitinase 3 like 1 Neighboring gene uncharacterized LOC124904485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203184460-203185216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203185217-203185972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203185973-203186728 Neighboring gene nucleophosmin 1 pseudogene 40 Neighboring gene uncharacterized LOC124904486 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr1:203241959-203242560 and GRCh37_chr1:203242561-203243162

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cardiopharyngeal deconstruction and ancestral tunicate sessility. Ferrández-Roldán A, et al. Nature, 2021 Nov. PMID 34789899
  2. Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy. Freigang M, et al. Orphanet J Rare Dis, 2021 Jul 28. PMID 34321067, Free PMC Article
  3. A novel marker of systemic inflammation in psoriasis and related comorbidities: chitotriosidase. Ä°lanbey B, et al. Turk J Med Sci, 2021 Oct 21. PMID 33819975
  4. Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study. Steinacker P, et al. Amyotroph Lateral Scler Frontotemporal Degener, 2021 May. PMID 33576252
  5. Chitotriosidase gene polymorphisms and mutations limit the determination of chitotriosidase expression in sarcoidosis. Csongrádi A, et al. Clin Chim Acta, 2021 Feb. PMID 33307063

See all (148) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Differential Glial Chitotriosidase 1 and Chitinase 3-like Protein 1 Expression in the Human Primary Visual Cortex and Cerebellum after Global Hypoxia-Ischemia.
    Title: Differential Glial Chitotriosidase 1 and Chitinase 3-like Protein 1 Expression in the Human Primary Visual Cortex and Cerebellum after Global Hypoxia-Ischemia.
  2. Longitudinal and Comparative Measures of Serum Chitotriosidase and YKL-40 in Patients With Idiopathic Pulmonary Fibrosis.
    Title: Longitudinal and Comparative Measures of Serum Chitotriosidase and YKL-40 in Patients With Idiopathic Pulmonary Fibrosis.
  3. Increased Plasma YKL-40 Level and Chitotriosidase Activity in Cystic Fibrosis Patients.
    Title: Increased Plasma YKL-40 Level and Chitotriosidase Activity in Cystic Fibrosis Patients.
  4. Cardiopharyngeal deconstruction and ancestral tunicate sessility.
    Title: Cardiopharyngeal deconstruction and ancestral tunicate sessility.
  5. Serum chitotriosidase and YKL-40 in acute pancreatitis: Reliability as prognostic marker for disease severity and correlation with inflammatory markers
    Title: Serum chitotriosidase and YKL-40 in acute pancreatitis: Reliability as prognostic marker for disease severity and correlation with inflammatory markers.
  6. A novel marker of systemic inflammation in psoriasis and related comorbidities: chitotriosidase
    Title: A novel marker of systemic inflammation in psoriasis and related comorbidities: chitotriosidase.
  7. Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy.
    Title: Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy.
  8. Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study.
    Title: Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study.
  9. Chitotriosidase gene polymorphisms and mutations limit the determination of chitotriosidase expression in sarcoidosis.
    Title: Chitotriosidase gene polymorphisms and mutations limit the determination of chitotriosidase expression in sarcoidosis.
  10. Association of plasma YKL-40 with brain amyloid-beta levels, memory performance, and sex in subjective memory complainers.
    Title: Association of plasma YKL-40 with brain amyloid-β levels, memory performance, and sex in subjective memory complainers.
Submit: New GeneRIF Correction See all GeneRIFs (125)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Chitotriosidase deficiency
MedGen: C3279902 OMIM: 614122 GeneReviews: Not available
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EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00314, MGC125322

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
chitotriosidase-1
Names
chitinase 1 (chitotriosidase)
plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase
NP_001243054.2
NP_003456.1
XP_047298855.1
XP_054189976.1

NCBI Reference Sequences (RefSeq)

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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
    5060..18654
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256125.2 → NP_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, ENST00000255427.7
    Conserved Domains (3) summary
    cd02872
    Location:24 → 366
    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:400 → 447
    ChtBD2; Chitin-binding domain type 2
    smart00636
    Location:23 → 344
    Glyco_18; Glyco_18 domain

  2. NM_003465.3 → NP_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
    B3KNW6, J3KN09, Q0VGG5, Q0VGG6, Q13231, Q3ZAR1, Q6ISC2, Q9H3V8, Q9UDJ8
    Related
    ENSP00000356198.1, ENST00000367229.6
    Conserved Domains (3) summary
    cd02872
    Location:24 → 385
    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:419 → 466
    ChtBD2; Chitin-binding domain type 2
    smart00636
    Location:23 → 363
    Glyco_18; Glyco_18 domain

RNA

  1. NR_045784.2 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_045785.2 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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    203216079..203230099 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442899.1 → XP_047298855.1  chitotriosidase-1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    202478845..202492868 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334001.1 → XP_054189976.1  chitotriosidase-1 isoform X1

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13231.1 GenPept UniProtKB/Swiss-Prot:Q13231

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