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    CHIT1 chitinase 1 [ Homo sapiens (human) ]

    Gene ID: 1118, updated on 27-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (203216079..203230099, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202478845..202492868, complement)
    RS_2024_09 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. Inflammatory marker levels in obese adolescents with glucose intolerance: increased chitotriosidase activity. Kabaroğlu C, et al. Clin Biochem, 2012 Mar. PMID 22206738
    2. Chitotriosidase activity in sarcoidosis and some other pulmonary diseases. Tercelj M, et al. Scand J Clin Lab Invest, 2009. PMID 19347743
    3. Human chitotriosidase polymorphism is associated with human longevity in Mediterranean nonagenarians and centenarians. Malaguarnera L, et al. J Hum Genet, 2010 Jan. PMID 19881466
    4. Increased cerebrospinal fluid chitotriosidase index in patients with multiple sclerosis. Verbeek MM, et al. Acta Neurol Scand, 2010 May. PMID 19925532
    5. Serum chitotriosidase activity and Wegener's granulomatosis. Koening CL, et al. Clin Biochem, 2010 Mar. PMID 19958755

    See all (147) 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 (124)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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