CHIT1 chitinase 1 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Cardiopharyngeal deconstruction and ancestral tunicate sessility.
Title: Cardiopharyngeal deconstruction and ancestral tunicate sessility.
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.
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.
Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy.
Title: Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy.
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.
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.
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	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH81001 (e-PCR)
- UniSTS:89622

NoName (e-PCR)
- UniSTS:480795

NoName (e-PCR)
- UniSTS:482587

SHGC-155193 (e-PCR)
- UniSTS:182062

D1S3693 (e-PCR)
- UniSTS:474271

G29124 (e-PCR)
- UniSTS:1451

SHGC-76163 (e-PCR)
- UniSTS:52989

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

EC 3.2.1.14

NP_003456.1

EC 3.2.1.14

XP_047298855.1

EC 3.2.1.14

XP_054189976.1

EC 3.2.1.14

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

NG_012867.1 RefSeqGene

Range

5060..18654

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

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
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

203216079..203230099 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

202478845..202492868 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.