UniProtKB - Q13231 (CHIT1_HUMAN)
Protein
Chitotriosidase-1
Gene
CHIT1
Organism
Homo sapiens (Human)
Status
Functioni
Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity.2 Publications
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.
Catalytic activityi
- Random endo-hydrolysis of N-acetyl-beta-D-glucosaminide (1->4)-beta-linkages in chitin and chitodextrins.3 Publications EC:3.2.1.14
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 140 | Proton donorPROSITE-ProRule annotation | 1 | |
Binding sitei | 141 | ChitooligosaccharidePROSITE-ProRule annotation | 1 | |
Binding sitei | 358 | ChitooligosaccharidePROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- chitinase activity Source: UniProtKB
- chitin binding Source: GO_Central
- endochitinase activity Source: UniProtKB
- hydrolase activity, hydrolyzing O-glycosyl compounds Source: Reactome
GO - Biological processi
- chitin catabolic process Source: UniProtKB
- immune response Source: UniProtKB
- neutrophil degranulation Source: Reactome
- polysaccharide catabolic process Source: UniProtKB-KW
- polysaccharide digestion Source: Reactome
- response to bacterium Source: ProtInc
Keywordsi
Molecular function | Glycosidase, Hydrolase |
Biological process | Carbohydrate metabolism, Chitin degradation, Polysaccharide degradation |
Ligand | Chitin-binding |
Enzyme and pathway databases
PathwayCommonsi | Q13231 |
Reactomei | R-HSA-189085, Digestion of dietary carbohydrate R-HSA-6798695, Neutrophil degranulation |
Protein family/group databases
CAZyi | CBM14, Carbohydrate-Binding Module Family 14 GH18, Glycoside Hydrolase Family 18 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:CHIT1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000133063.15 |
HGNCi | HGNC:1936, CHIT1 |
MIMi | 600031, gene |
neXtProti | NX_Q13231 |
Subcellular locationi
Extracellular region or secreted
- extracellular region Source: GO_Central
- extracellular space Source: UniProtKB
Lysosome
- lysosome Source: UniProtKB-SubCell
Other locations
- specific granule lumen Source: Reactome
- tertiary granule lumen Source: Reactome
Keywords - Cellular componenti
Lysosome, SecretedPathology & Biotechi
Organism-specific databases
DisGeNETi | 1118 |
MalaCardsi | CHIT1 |
MIMi | 614122, phenotype |
OpenTargetsi | ENSG00000133063 |
PharmGKBi | PA26467 |
Miscellaneous databases
Pharosi | Q13231, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3080 |
DrugBanki | DB03539, 2-(Acetylamino)-2-Deoxy-6-O-Methyl-Alpha-D-Allopyranose DB03109, 2-acetylamino-2-deoxy-b-D-allopyranose DB04404, Allosamizoline DB04350, Argadin DB03632, Argifin |
Polymorphism and mutation databases
BioMutai | CHIT1 |
DMDMi | 37999493 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | 1 PublicationAdd BLAST | 21 | |
ChainiPRO_0000011941 | 22 – 466 | Chitotriosidase-1Add BLAST | 445 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 26 ↔ 51 | PROSITE-ProRule annotation1 Publication | ||
Glycosylationi | 100 | N-linked (GlcNAc...) asparagine; in variant S-1021 Publication | 1 | |
Disulfide bondi | 307 ↔ 370 | PROSITE-ProRule annotation1 Publication | ||
Disulfide bondi | 450 ↔ 463 | PROSITE-ProRule annotation |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MassIVEi | Q13231 |
PaxDbi | Q13231 |
PeptideAtlasi | Q13231 |
PRIDEi | Q13231 |
ProteomicsDBi | 59236 [Q13231-1] 59237 [Q13231-2] 59238 [Q13231-3] |
PTM databases
GlyGeni | Q13231, 2 sites, 1 O-linked glycan (1 site) |
iPTMneti | Q13231 |
PhosphoSitePlusi | Q13231 |
Expressioni
Tissue specificityi
Detected in spleen. Secreted by cultured macrophages.1 Publication
Gene expression databases
Bgeei | ENSG00000133063, Expressed in lymph node and 112 other tissues |
ExpressionAtlasi | Q13231, baseline and differential |
Genevisiblei | Q13231, HS |
Organism-specific databases
HPAi | ENSG00000133063, Tissue enhanced (adipose tissue, lymphoid tissue) |
Interactioni
Subunit structurei
Monomer.
3 PublicationsProtein-protein interaction databases
BioGRIDi | 107542, 5 interactors |
IntActi | Q13231, 5 interactors |
STRINGi | 9606.ENSP00000356198 |
Chemistry databases
BindingDBi | Q13231 |
Miscellaneous databases
RNActi | Q13231, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q13231 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q13231 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 22 – 388 | GH18PROSITE-ProRule annotationAdd BLAST | 367 | |
Domaini | 417 – 466 | Chitin-binding type-2PROSITE-ProRule annotationAdd BLAST | 50 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 70 – 71 | Chitooligosaccharide bindingPROSITE-ProRule annotation | 2 | |
Regioni | 97 – 100 | Chitooligosaccharide bindingPROSITE-ProRule annotation | 4 | |
Regioni | 210 – 213 | Chitooligosaccharide bindingPROSITE-ProRule annotation | 4 |
Sequence similaritiesi
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG2806, Eukaryota |
GeneTreei | ENSGT00940000161149 |
HOGENOMi | CLU_002833_3_1_1 |
InParanoidi | Q13231 |
OMAi | FYYCSGG |
OrthoDBi | 1289629at2759 |
PhylomeDBi | Q13231 |
TreeFami | TF315610 |
Family and domain databases
Gene3Di | 3.10.50.10, 1 hit |
InterProi | View protein in InterPro IPR002557, Chitin-bd_dom IPR036508, Chitin-bd_dom_sf IPR011583, Chitinase_II IPR029070, Chitinase_insertion_sf IPR001223, Glyco_hydro18_cat IPR001579, Glyco_hydro_18_chit_AS IPR017853, Glycoside_hydrolase_SF |
Pfami | View protein in Pfam PF01607, CBM_14, 1 hit PF00704, Glyco_hydro_18, 1 hit |
SMARTi | View protein in SMART SM00494, ChtBD2, 1 hit SM00636, Glyco_18, 1 hit |
SUPFAMi | SSF51445, SSF51445, 1 hit SSF54556, SSF54556, 1 hit SSF57625, SSF57625, 1 hit |
PROSITEi | View protein in PROSITE PS50940, CHIT_BIND_II, 1 hit PS01095, GH18_1, 1 hit PS51910, GH18_2, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q13231-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVRSVAWAGF MVLLMIPWGS AAKLVCYFTN WAQYRQGEAR FLPKDLDPSL
60 70 80 90 100
CTHLIYAFAG MTNHQLSTTE WNDETLYQEF NGLKKMNPKL KTLLAIGGWN
110 120 130 140 150
FGTQKFTDMV ATANNRQTFV NSAIRFLRKY SFDGLDLDWE YPGSQGSPAV
160 170 180 190 200
DKERFTTLVQ DLANAFQQEA QTSGKERLLL SAAVPAGQTY VDAGYEVDKI
210 220 230 240 250
AQNLDFVNLM AYDFHGSWEK VTGHNSPLYK RQEESGAAAS LNVDAAVQQW
260 270 280 290 300
LQKGTPASKL ILGMPTYGRS FTLASSSDTR VGAPATGSGT PGPFTKEGGM
310 320 330 340 350
LAYYEVCSWK GATKQRIQDQ KVPYIFRDNQ WVGFDDVESF KTKVSYLKQK
360 370 380 390 400
GLGGAMVWAL DLDDFAGFSC NQGRYPLIQT LRQELSLPYL PSGTPELEVP
410 420 430 440 450
KPGQPSEPEH GPSPGQDTFC QGKADGLYPN PRERSSFYSC AAGRLFQQSC
460
PTGLVFSNSC KCCTWN
Isoform 3 (identifier: Q13231-3) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
344-372: Missing.
Note: Duplication of 24 bp in exon 10 leads to the use of a cryptic splice site. The normal splice site is still present but not used.Curated
Show »Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketD6REY1 | D6REY1_HUMAN | Chitotriosidase-1 | CHIT1 | 361 | Annotation score: |
Sequence cautioni
The sequence BAG51478 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Polymorphismi
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 [MIMi: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.1 Publication
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049190 | 40 | R → H. Corresponds to variant dbSNP:rs35920428EnsemblClinVar. | 1 | |
Natural variantiVAR_065914 | 74 | E → K Rare variant detected in patients with Gaucher disease type 1. 1 PublicationCorresponds to variant dbSNP:rs137852607EnsemblClinVar. | 1 | |
Natural variantiVAR_022138 | 102 | G → S Common variant detected in patients with Gaucher disease type 1 as well as healthy individuals; slightly reduced activity towards 4-methylumbelliferyl-chitotrioside but no effect on activity towards 4-methylumbelliferyl-deoxychitobioside. 3 PublicationsCorresponds to variant dbSNP:rs2297950EnsemblClinVar. | 1 | |
Natural variantiVAR_049191 | 171 | Q → H. Corresponds to variant dbSNP:rs12562058EnsemblClinVar. | 1 | |
Natural variantiVAR_024458 | 442 | A → G2 PublicationsCorresponds to variant dbSNP:rs1065761EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044816 | 87 – 105 | Missing in isoform 4. 1 PublicationAdd BLAST | 19 | |
Alternative sequenceiVSP_008633 | 344 – 372 | Missing in isoform 3. CuratedAdd BLAST | 29 | |
Alternative sequenceiVSP_008631 | 386 – 387 | SL → NG in isoform 2. 1 Publication | 2 | |
Alternative sequenceiVSP_008632 | 388 – 466 | Missing in isoform 2. 1 PublicationAdd BLAST | 79 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U29615 mRNA Translation: AAC50246.1 U62662 mRNA Translation: AAG10644.1 AK055165 mRNA Translation: BAG51478.1 Different initiation. AC105940 Genomic DNA No translation available. AL359090 Genomic DNA No translation available. BC069614 mRNA Translation: AAH69614.1 BC103695 mRNA Translation: AAI03696.1 BC105680 mRNA Translation: AAI05681.1 BC105681 mRNA Translation: AAI05682.1 BC105682 mRNA Translation: AAI05683.1 |
CCDSi | CCDS1436.1 [Q13231-1] CCDS58057.1 [Q13231-4] |
RefSeqi | NP_001243054.2, NM_001256125.1 [Q13231-4] NP_003456.1, NM_003465.2 [Q13231-1] |
Genome annotation databases
Ensembli | ENST00000255427; ENSP00000255427; ENSG00000133063 [Q13231-4] ENST00000367229; ENSP00000356198; ENSG00000133063 [Q13231-1] ENST00000491855; ENSP00000423778; ENSG00000133063 [Q13231-2] |
GeneIDi | 1118 |
KEGGi | hsa:1118 |
UCSCi | uc001gzn.3, human [Q13231-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U29615 mRNA Translation: AAC50246.1 U62662 mRNA Translation: AAG10644.1 AK055165 mRNA Translation: BAG51478.1 Different initiation. AC105940 Genomic DNA No translation available. AL359090 Genomic DNA No translation available. BC069614 mRNA Translation: AAH69614.1 BC103695 mRNA Translation: AAI03696.1 BC105680 mRNA Translation: AAI05681.1 BC105681 mRNA Translation: AAI05682.1 BC105682 mRNA Translation: AAI05683.1 |
CCDSi | CCDS1436.1 [Q13231-1] CCDS58057.1 [Q13231-4] |
RefSeqi | NP_001243054.2, NM_001256125.1 [Q13231-4] NP_003456.1, NM_003465.2 [Q13231-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1GUV | X-ray | 2.35 | A | 22-387 | [»] | |
1HKI | X-ray | 2.55 | A | 22-386 | [»] | |
1HKJ | X-ray | 2.60 | A | 22-386 | [»] | |
1HKK | X-ray | 1.85 | A | 22-385 | [»] | |
1HKM | X-ray | 2.55 | A | 22-386 | [»] | |
1LG1 | X-ray | 2.78 | A | 22-386 | [»] | |
1LG2 | X-ray | 2.10 | A | 22-386 | [»] | |
1LQ0 | X-ray | 2.20 | A | 22-386 | [»] | |
1WAW | X-ray | 1.75 | A | 22-466 | [»] | |
1WB0 | X-ray | 1.65 | A | 22-466 | [»] | |
4WJX | X-ray | 1.00 | A | 22-387 | [»] | |
4WK9 | X-ray | 1.10 | A | 22-387 | [»] | |
4WKA | X-ray | 0.95 | A | 22-386 | [»] | |
4WKF | X-ray | 1.10 | A | 22-387 | [»] | |
4WKH | X-ray | 1.05 | A | 22-387 | [»] | |
5HBF | X-ray | 1.95 | A/B | 1-466 | [»] | |
5NR8 | X-ray | 1.35 | A | 22-387 | [»] | |
5NRA | X-ray | 1.27 | A | 22-387 | [»] | |
5NRF | X-ray | 1.45 | A | 22-387 | [»] | |
6JJR | X-ray | 1.83 | A | 22-396 | [»] | |
6JK6 | X-ray | 1.57 | A | 22-396 | [»] | |
6SO0 | NMR | - | A | 418-466 | [»] | |
SMRi | Q13231 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107542, 5 interactors |
IntActi | Q13231, 5 interactors |
STRINGi | 9606.ENSP00000356198 |
Chemistry databases
BindingDBi | Q13231 |
ChEMBLi | CHEMBL3080 |
DrugBanki | DB03539, 2-(Acetylamino)-2-Deoxy-6-O-Methyl-Alpha-D-Allopyranose DB03109, 2-acetylamino-2-deoxy-b-D-allopyranose DB04404, Allosamizoline DB04350, Argadin DB03632, Argifin |
Protein family/group databases
CAZyi | CBM14, Carbohydrate-Binding Module Family 14 GH18, Glycoside Hydrolase Family 18 |
PTM databases
GlyGeni | Q13231, 2 sites, 1 O-linked glycan (1 site) |
iPTMneti | Q13231 |
PhosphoSitePlusi | Q13231 |
Polymorphism and mutation databases
BioMutai | CHIT1 |
DMDMi | 37999493 |
Proteomic databases
MassIVEi | Q13231 |
PaxDbi | Q13231 |
PeptideAtlasi | Q13231 |
PRIDEi | Q13231 |
ProteomicsDBi | 59236 [Q13231-1] 59237 [Q13231-2] 59238 [Q13231-3] |
Protocols and materials databases
Antibodypediai | 2441, 233 antibodies |
DNASUi | 1118 |
Genome annotation databases
Ensembli | ENST00000255427; ENSP00000255427; ENSG00000133063 [Q13231-4] ENST00000367229; ENSP00000356198; ENSG00000133063 [Q13231-1] ENST00000491855; ENSP00000423778; ENSG00000133063 [Q13231-2] |
GeneIDi | 1118 |
KEGGi | hsa:1118 |
UCSCi | uc001gzn.3, human [Q13231-1] |
Organism-specific databases
CTDi | 1118 |
DisGeNETi | 1118 |
EuPathDBi | HostDB:ENSG00000133063.15 |
GeneCardsi | CHIT1 |
HGNCi | HGNC:1936, CHIT1 |
HPAi | ENSG00000133063, Tissue enhanced (adipose tissue, lymphoid tissue) |
MalaCardsi | CHIT1 |
MIMi | 600031, gene 614122, phenotype |
neXtProti | NX_Q13231 |
OpenTargetsi | ENSG00000133063 |
PharmGKBi | PA26467 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2806, Eukaryota |
GeneTreei | ENSGT00940000161149 |
HOGENOMi | CLU_002833_3_1_1 |
InParanoidi | Q13231 |
OMAi | FYYCSGG |
OrthoDBi | 1289629at2759 |
PhylomeDBi | Q13231 |
TreeFami | TF315610 |
Enzyme and pathway databases
PathwayCommonsi | Q13231 |
Reactomei | R-HSA-189085, Digestion of dietary carbohydrate R-HSA-6798695, Neutrophil degranulation |
Miscellaneous databases
BioGRID-ORCSi | 1118, 3 hits in 842 CRISPR screens |
ChiTaRSi | CHIT1, human |
EvolutionaryTracei | Q13231 |
GenomeRNAii | 1118 |
Pharosi | Q13231, Tbio |
PROi | PR:Q13231 |
RNActi | Q13231, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000133063, Expressed in lymph node and 112 other tissues |
ExpressionAtlasi | Q13231, baseline and differential |
Genevisiblei | Q13231, HS |
Family and domain databases
Gene3Di | 3.10.50.10, 1 hit |
InterProi | View protein in InterPro IPR002557, Chitin-bd_dom IPR036508, Chitin-bd_dom_sf IPR011583, Chitinase_II IPR029070, Chitinase_insertion_sf IPR001223, Glyco_hydro18_cat IPR001579, Glyco_hydro_18_chit_AS IPR017853, Glycoside_hydrolase_SF |
Pfami | View protein in Pfam PF01607, CBM_14, 1 hit PF00704, Glyco_hydro_18, 1 hit |
SMARTi | View protein in SMART SM00494, ChtBD2, 1 hit SM00636, Glyco_18, 1 hit |
SUPFAMi | SSF51445, SSF51445, 1 hit SSF54556, SSF54556, 1 hit SSF57625, SSF57625, 1 hit |
PROSITEi | View protein in PROSITE PS50940, CHIT_BIND_II, 1 hit PS01095, GH18_1, 1 hit PS51910, GH18_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CHIT1_HUMAN | |
Accessioni | Q13231Primary (citable) accession number: Q13231 Secondary accession number(s): B3KNW6 Q9UDJ8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 24, 2003 |
Last sequence update: | November 1, 1996 | |
Last modified: | December 2, 2020 | |
This is version 194 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Glycosyl hydrolases
Classification of glycosyl hydrolase families and list of entries