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.... See more...

Aliases for CHIT1 Gene

Aliases for CHIT1 Gene

  • Chitinase 1 2 3 5
  • Chitinase 1 (Chitotriosidase) 2 3
  • Chitotriosidase-1 3 4
  • EC 3.2.1.14 4 54
  • Plasma Methylumbelliferyl Tetra-N-Acetylchitotetraoside Hydrolase 3
  • Chitotriosidase 2
  • Chitinase-1 4
  • CHITD 3
  • CHI3 3
  • CHIT 3

External Ids for CHIT1 Gene

Previous GeneCards Identifiers for CHIT1 Gene

  • GC01M200868
  • GC01M198615
  • GC01M199649
  • GC01M200474
  • GC01M199917
  • GC01M201451
  • GC01M174350

Summaries for CHIT1 Gene

Entrez Gene Summary for CHIT1 Gene

  • 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]

GeneCards Summary for CHIT1 Gene

CHIT1 (Chitinase 1) is a Protein Coding gene. Diseases associated with CHIT1 include Chitotriosidase Deficiency and Gaucher Disease, Type I. Among its related pathways are Innate Immune System and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and chitinase activity. An important paralog of this gene is CHIA.

UniProtKB/Swiss-Prot Summary for CHIT1 Gene

  • Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity.

Additional gene information for CHIT1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHIT1 Gene

Genomics for CHIT1 Gene

GeneHancer (GH) Regulatory Elements for CHIT1 Gene

Promoters and enhancers for CHIT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHIT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHIT1 gene promoter:
  • AP-4
  • C/EBPbeta
  • E47
  • IRF-2
  • NF-1
  • NRSF form 1
  • NRSF form 2
  • oct-B2
  • oct-B3
  • Tal-1beta

Genomic Locations for CHIT1 Gene

Genomic Locations for CHIT1 Gene
chr1:203,212,823-203,273,641
(GRCh38/hg38)
Size:
60,819 bases
Orientation:
Minus strand
chr1:203,181,955-203,242,769
(GRCh37/hg19)
Size:
60,815 bases
Orientation:
Minus strand

Genomic View for CHIT1 Gene

Genes around CHIT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHIT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHIT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHIT1 Gene

Proteins for CHIT1 Gene

  • Protein details for CHIT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13231-CHIT1_HUMAN
    Recommended name:
    Chitotriosidase-1
    Protein Accession:
    Q13231
    Secondary Accessions:
    • B3KNW6
    • J3KN09
    • Q0VGG5
    • Q0VGG6
    • Q3ZAR1
    • Q6ISC2
    • Q9H3V8
    • Q9UDJ8

    Protein attributes for CHIT1 Gene

    Size:
    466 amino acids
    Molecular mass:
    51681 Da
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • Very 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.
    SequenceCaution:
    • Sequence=BAG51478.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHIT1 Gene

    Alternative splice isoforms for CHIT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHIT1 Gene

Selected DME Specific Peptides for CHIT1 Gene

Q13231:
  • CYFTNWA
  • LCTHLIY
  • DLDWEYP
  • LAIGGWN

Post-translational modifications for CHIT1 Gene

  • Glycosylation at Asn100
  • Modification sites at PhosphoSitePlus

Other Protein References for CHIT1 Gene

Antibody Products

Domains & Families for CHIT1 Gene

Gene Families for CHIT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Enzymes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CHIT1 Gene

GenScript: Design optimal peptide antigens:
  • Chitinase-1 (CHIT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13231

UniProtKB/Swiss-Prot:

CHIT1_HUMAN :
  • Belongs to the glycosyl hydrolase 18 family. Chitinase class II subfamily.
Family:
  • Belongs to the glycosyl hydrolase 18 family. Chitinase class II subfamily.
genes like me logo Genes that share domains with CHIT1: view

Function for CHIT1 Gene

Molecular function for CHIT1 Gene

UniProtKB/Swiss-Prot Function:
Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Random endo-hydrolysis of N-acetyl-beta-D-glucosaminide (1->4)-beta-linkages in chitin and chitodextrins.; EC=3.2.1.14; Evidence={ECO:0000269 PubMed:15664516, ECO:0000269 PubMed:19725875, ECO:0000269 PubMed:7836450};.
GENATLAS Biochemistry:
chitinase 1,expressed by macrophages,may be involved in the degradation of chitin containing pathogens,markedly elevated in plasma of Gaucher patients,deficiency in individuals homozygous for a duplication in exon 10.

Enzyme Numbers (IUBMB) for CHIT1 Gene

Phenotypes From GWAS Catalog for CHIT1 Gene

Gene Ontology (GO) - Molecular Function for CHIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds TAS,IEA --
GO:0004568 chitinase activity TAS 9748235
GO:0008061 chitin binding TAS,IEA 9748235
GO:0008843 endochitinase activity IDA 19725875
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CHIT1: view
genes like me logo Genes that share phenotypes with CHIT1: view

Animal Models for CHIT1 Gene

MGI Knock Outs for CHIT1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CHIT1 Gene

Localization for CHIT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHIT1 Gene

Secreted. Lysosome. Note=A small proportion is lysosomal.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHIT1 gene
Compartment Confidence
extracellular 5
lysosome 5
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 0
nucleus 0

Gene Ontology (GO) - Cellular Components for CHIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IBA,TAS --
GO:0005615 extracellular space TAS,IDA 19725875
GO:0005764 lysosome IEA --
GO:0035580 specific granule lumen TAS --
GO:1904724 tertiary granule lumen TAS --
genes like me logo Genes that share ontologies with CHIT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHIT1 Gene

Pathways & Interactions for CHIT1 Gene

genes like me logo Genes that share pathways with CHIT1: view

Pathways by source for CHIT1 Gene

Gene Ontology (GO) - Biological Process for CHIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000272 polysaccharide catabolic process IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006030 chitin metabolic process IEA --
GO:0006032 chitin catabolic process TAS 9748235
GO:0006955 immune response NAS 9748235
genes like me logo Genes that share ontologies with CHIT1: view

No data available for SIGNOR curated interactions for CHIT1 Gene

Drugs & Compounds for CHIT1 Gene

(14) Drugs for CHIT1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved, Investigational Pharma Target 0
N-Acetyl-D-glucosamine Approved, Investigational Nutra 0
Water Approved Pharma 0
2-(Acetylamino)-2-Deoxy-6-O-Methyl-Alpha-D-Allopyranose Experimental Pharma Target 0
Allosamizoline Experimental Pharma Target 0

(6) Additional Compounds for CHIT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chitobiose
  • CBS
  • Chitodextrin
  • Diacetylchitobiose
577-76-4
genes like me logo Genes that share compounds with CHIT1: view

Transcripts for CHIT1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHIT1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: -
SP2: - -
SP3: - - -
SP4: - - -
SP5:
SP6: - - - -

Relevant External Links for CHIT1 Gene

GeneLoc Exon Structure for
CHIT1
ECgene alternative splicing isoforms for
CHIT1

Expression for CHIT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHIT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHIT1 Gene

This gene is overexpressed in Whole Blood (x17.2), Lung (x7.9), and Adipose - Subcutaneous (x5.1).

Protein differential expression in normal tissues from HIPED for CHIT1 Gene

This gene is overexpressed in Neutrophil (48.4) and Serum (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHIT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CHIT1 Gene:

CHIT1

SOURCE GeneReport for Unigene cluster for CHIT1 Gene:

Hs.201688

mRNA Expression by UniProt/SwissProt for CHIT1 Gene:

Q13231-CHIT1_HUMAN
Tissue specificity: Detected in spleen. Secreted by cultured macrophages.

Evidence on tissue expression from TISSUES for CHIT1 Gene

  • Spleen(4)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with CHIT1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHIT1 Gene

Orthologs for CHIT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHIT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHIT1 33 32
  • 99.07 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chit1 32
  • 79.91 (n)
mouse
(Mus musculus)
Mammalia Chit1 17 33 32
  • 79.53 (n)
cow
(Bos Taurus)
Mammalia CHIT1 32
  • 78.4 (n)
-- 33
  • 44 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 70 (a)
OneToMany
-- 33
  • 65 (a)
OneToMany
-- 33
  • 64 (a)
OneToMany
-- 33
  • 55 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CHIT1 33
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 56 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia chit1 32
  • 57.28 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12601 32
fruit fly
(Drosophila melanogaster)
Insecta Cht7 33 32
  • 58.22 (n)
OneToMany
CG1869 34
  • 52 (a)
CG2989 34
  • 41 (a)
CG9307 34
  • 40 (a)
Cht1 34
  • 39 (a)
CG10531 34
  • 39 (a)
Cht3 34
  • 39 (a)
CG9357 34
  • 37 (a)
Cht2 34
  • 34 (a)
CG3044 34
  • 32 (a)
Idgf1 34
  • 29 (a)
Idgf2 34
  • 28 (a)
Idgf3 34
  • 27 (a)
Chit 34
  • 27 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006898 32
  • 52.76 (n)
worm
(Caenorhabditis elegans)
Secernentea cht-1 33 34 32
  • 50.47 (n)
OneToMany
T01C4.1 34
  • 29 (a)
F07G11.9 34
  • 28 (a)
T13H5.3 34
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CTS2 33
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G19810 32
  • 44.55 (n)
rice
(Oryza sativa)
Liliopsida Os04g0376400 32
  • 47.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8046 33
  • 29 (a)
OneToMany
Species where no ortholog for CHIT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for CHIT1 Gene

ENSEMBL:
Gene Tree for CHIT1 (if available)
TreeFam:
Gene Tree for CHIT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHIT1: view image

Paralogs for CHIT1 Gene

Paralogs for CHIT1 Gene

(5) SIMAP similar genes for CHIT1 Gene using alignment to 3 proteins:

  • CHIT1_HUMAN
  • D6REY1_HUMAN
  • G5EA51_HUMAN

Pseudogenes.org Pseudogenes for CHIT1 Gene

genes like me logo Genes that share paralogs with CHIT1: view

Variants for CHIT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CHIT1 Gene

CHIT1_HUMAN-Q13231
A 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 variations from dbSNP and Humsavar for CHIT1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1065761 benign, uncertain-significance, benign-likely-benign, Chitotriosidase deficiency, not provided, - 203,216,965(-) G/A/C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs115551220 likely-benign, Chitotriosidase deficiency 203,229,717(-) C/T genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs116389839 uncertain-significance, Chitotriosidase deficiency 203,225,878(-) G/A intron_variant
rs11800196 uncertain-significance, Chitotriosidase deficiency 203,229,707(-) C/T genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs137852607 affects, Chitotriosidase deficiency, - 203,225,706(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CHIT1 Gene

Variant ID Type Subtype PubMed ID
nsv549005 CNV loss 21841781

Variation tolerance for CHIT1 Gene

Residual Variation Intolerance Score: 96.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.32; 97.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHIT1 Gene

Human Gene Mutation Database (HGMD)
CHIT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHIT1

SNP Genotyping and Copy Number Assay Products

Disorders for CHIT1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for CHIT1 Gene - From: HGMD, OMIM, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chitotriosidase deficiency
  • chitd
gaucher disease, type i
  • gd i
gaucher's disease
  • glucocerebrosidase deficiency
niemann-pick disease, type a
  • sphingomyelin lipidosis
mycetoma
  • madura foot
- elite association - COSMIC cancer census association via MalaCards
Search CHIT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CHIT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CHIT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHIT1 Gene

Publications for CHIT1 Gene

  1. The human chitotriosidase gene. Nature of inherited enzyme deficiency. (PMID: 9748235) Boot RG … Aerts JM (The Journal of biological chemistry 1998) 2 3 4 23 56
  2. Human chitotriosidase polymorphism is associated with human longevity in Mediterranean nonagenarians and centenarians. (PMID: 19881466) Malaguarnera L … Malaguarnera M (Journal of human genetics 2010) 3 23 43 56
  3. Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates. (PMID: 19725875) Bussink AP … Boot RG (The FEBS journal 2009) 3 4 23 56
  4. Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. (PMID: 17464953) Grace ME … Desnick RJ (Human mutation 2007) 3 4 23 56
  5. Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity. (PMID: 17693102) Lee P … Beutler E (Blood cells, molecules & diseases 2007) 3 23 43 56

Products for CHIT1 Gene

Sources for CHIT1 Gene