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Aliases for CHIT1 Gene

Aliases for CHIT1 Gene

  • Chitinase 1 (Chitotriosidase) 2 3
  • EC 3.2.1.14 4 63
  • CHITD 3 6
  • CHIT 3 6
  • Plasma Methylumbelliferyl Tetra-N-Acetylchitotetraoside Hydrolase 3
  • Chitotriosidase-1 3
  • Chitinase-1 4
  • CHI3 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 (Chitotriosidase)) is a Protein Coding gene. Diseases associated with CHIT1 include chitotriosidase deficiency and crimean-congo hemorrhagic fever. Among its related pathways are Amino sugar and nucleotide sugar metabolism. GO annotations related to this gene include chitinase activity and endochitinase activity. An important paralog of this gene is CHI3L2.

UniProtKB/Swiss-Prot for CHIT1 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHIT1 Gene

Genomics for CHIT1 Gene

Regulatory Elements for CHIT1 Gene

Genomic Location for CHIT1 Gene

Start:
203,212,827 bp from pter
End:
203,273,641 bp from pter
Size:
60,815 bases
Orientation:
Minus strand

Genomic View for CHIT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CHIT1 Gene at MOPED

Selected DME Specific Peptides for CHIT1 Gene

Post-translational modifications for CHIT1 Gene

  • Glycosylation at Asn100
  • Modification sites at PhosphoSitePlus

Other Protein References for CHIT1 Gene

Antibody Products

  • R&D Systems Antibodies for CHIT1 (Chitotriosidase/CHIT1)

Domains for CHIT1 Gene

Gene Families for CHIT1 Gene

Suggested Antigen Peptide Sequences for CHIT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13231

UniProtKB/Swiss-Prot:

CHIT1_HUMAN :
  • Contains 1 chitin-binding type-2 domain.
  • Belongs to the glycosyl hydrolase 18 family. Chitinase class II subfamily.
Domain:
  • Contains 1 chitin-binding type-2 domain.
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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Random hydrolysis of N-acetyl-beta-D-glucosaminide (1->4)-beta-linkages in chitin and chitodextrins.
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.

Enzyme Numbers (IUBMB) 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 --
GO:0004568 chitinase activity TAS 9748235
GO:0008061 chitin binding TAS 9748235
GO:0008843 endochitinase activity IDA 19725875
genes like me logo Genes that share ontologies with CHIT1: view

Phenotypes for CHIT1 Gene

MGI mutant phenotypes for CHIT1:
inferred from 1 alleles
GenomeRNAi human phenotypes for CHIT1:
genes like me logo Genes that share phenotypes with CHIT1: view

Animal Models for CHIT1 Gene

MGI Knock Outs for CHIT1:

Animal Model Products

No data available for 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
Jensen Localization Image for CHIT1 Gene COMPARTMENTS Subcellular localization image for CHIT1 gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CHIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005615 extracellular space IDA 19725875
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with CHIT1: view

Pathways for CHIT1 Gene

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

Pathways by source for CHIT1 Gene

1 KEGG pathway for CHIT1 Gene

Interacting Proteins 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 --
GO:0006030 chitin metabolic process --
GO:0006032 chitin catabolic process TAS 9748235
GO:0006955 immune response NAS 9748235
genes like me logo Genes that share ontologies with CHIT1: view

Drugs for CHIT1 Gene

(5) Drugbank Compounds for CHIT1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
2-(Acetylamino)-2-Deoxy-6-O-Methyl-Alpha-D-Allopyranose
46936709 Target experimental
Allosamizoline
46936968 Target experimental
Argadin
  • FO 7314
289665-92-5 449123 Target experimental
Argifin
46936737 Target experimental
N-Acetyl-D-Allosamine
440552 Target experimental

(5) HMDB Compounds for CHIT1 Gene

Compound Synonyms Cas Number PubMed IDs
Chitin
  • beta-1,4-Poly-N-acetyl-D-glucosamine
1398-61-4
Chitobiose
  • CBS
577-76-4
Isopropyl alcohol
  • 2-Propanol
67-63-0
N-Acetyl-D-glucosamine
  • 2-(Acetylamino)-2-deoxyhexose
7512-17-6
Water
  • Dihydrogen oxide
7732-18-5

(12) Novoseek inferred chemical compound relationships for CHIT1 Gene

Compound -log(P) Hits PubMed IDs
chitin 81.5 21
miglustat 80.5 3
allosamidin 77.3 1
glucosylceramide 65.6 2
neopterin 34.8 3
genes like me logo Genes that share compounds with CHIT1: view

Transcripts for CHIT1 Gene

Unigene Clusters for CHIT1 Gene

Chitinase 1 (chitotriosidase):
Representative Sequences:

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 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 (17.2), Lung (7.9), and Adipose - Subcutaneous (5.1).

Protein differential expression in normal tissues for CHIT1 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CHIT1 Gene

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.
genes like me logo Genes that share expressions with CHIT1: view

Primer Products

In Situ Assay Products

No data available for Expression partners 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
cow
(Bos Taurus)
Mammalia CHIT1 35
  • 78.4 (n)
  • 70.2 (a)
-- 36
  • 44 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Chit1 35
  • 79.53 (n)
  • 75 (a)
Chit1 16
Chit1 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHIT1 35
  • 99.07 (n)
  • 98.71 (a)
CHIT1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chit1 35
  • 79.91 (n)
  • 76.03 (a)
oppossum
(Monodelphis domestica)
Mammalia CHIT1 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 55 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 56 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia chit1 35
  • 57.28 (n)
  • 51.4 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12601 35
fruit fly
(Drosophila melanogaster)
Insecta CG10531 37
  • 39 (a)
CG1869 37
  • 52 (a)
CG2989 37
  • 41 (a)
CG3044 37
  • 32 (a)
CG9307 37
  • 40 (a)
CG9357 37
  • 37 (a)
Chit 37
  • 27 (a)
Cht1 37
  • 39 (a)
Cht2 37
  • 34 (a)
Cht3 37
  • 39 (a)
Idgf1 37
  • 29 (a)
Idgf2 37
  • 28 (a)
Idgf3 37
  • 27 (a)
Cht7 35
  • 58.22 (n)
  • 54.87 (a)
Cht7 36
  • 22 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006898 35
  • 52.76 (n)
  • 45.45 (a)
worm
(Caenorhabditis elegans)
Secernentea cht-1 37
  • 40 (a)
F07G11.9 37
  • 28 (a)
T01C4.1 37
  • 29 (a)
T13H5.3 37
  • 28 (a)
cht-1 35
  • 50.47 (n)
  • 45.35 (a)
cht-1 36
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CTS2 36
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G19810 35
  • 44.55 (n)
  • 38.89 (a)
rice
(Oryza sativa)
Liliopsida Os04g0376400 35
  • 47.12 (n)
  • 33.33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8046 36
  • 29 (a)
OneToMany
Species with no ortholog for CHIT1:
  • 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)

Paralogs for CHIT1 Gene

Paralogs for CHIT1 Gene

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

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

Q13231-CHIT1_HUMAN
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 Sequence Context AA Info Type MAF
rs872583 -- 203,215,638(-) GTAGG(A/G)TGGAA downstream-variant-500B
rs946257 -- 203,220,780(+) GAAGT(C/G)GGGGC intron-variant
rs946258 -- 203,221,112(+) GCTCA(A/G)AGAGG intron-variant
rs1002485 -- 203,220,360(+) ATTGT(C/T)GTCTT intron-variant
rs1065761 - 203,216,965(-) TGCAG(C/G/T)GGGGC reference, missense, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
nsv873110 CNV Loss 21882294

Relevant External Links for CHIT1 Gene

HapMap Linkage Disequilibrium report
CHIT1
Human Gene Mutation Database (HGMD)
CHIT1

Disorders for CHIT1 Gene

(1) OMIM Diseases for CHIT1 Gene (600031)

(2) University of Copenhagen DISEASES for CHIT1 Gene

(34) Novoseek inferred disease relationships for CHIT1 Gene

Disease -log(P) Hits PubMed IDs
gaucher disease 93.5 38
type 1 gaucher disease 90.1 6
gaucher disease, type i 89.2 5
neuronopathic gaucher disease 71.9 1
niemann-pick diseases 69.9 2

Relevant External Links for CHIT1

Genetic Association Database (GAD)
CHIT1
Human Genome Epidemiology (HuGE) Navigator
CHIT1
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 R.G. … Aerts J.M.F.G. (J. Biol. Chem. 1998) 2 3 4 23
  2. Human CHIT1 gene distribution: new data from Mediterranean and European populations. (PMID: 17106626) Piras I. … Vona G. (J. Hum. Genet. 2007) 3 23 48
  3. Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. (PMID: 17464953) Grace M.E. … Desnick R.J. (Hum. Mutat. 2007) 3 4 23
  4. 24 bp duplication of CHIT1 gene is not correlated with coronary artery disease in Corsica Island (France). (PMID: 17916351) Piras I. … Vona G. (Exp. Mol. Pathol. 2007) 3 23 48
  5. Chitotriosidase, a chitinase, and the 39-kDa human cartilage glycoprotein, a chitin-binding lectin, are homologues of family 18 glycosyl hydrolases secreted by human macrophages. (PMID: 9492324) Renkema G.H. … Aerts J.M.F.G. (Eur. J. Biochem. 1998) 2 3 23

Products for CHIT1 Gene

Sources for CHIT1 Gene

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