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Protein

Chitotriosidase-1

Gene

CHIT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei140Proton donorPROSITE-ProRule annotation1
Binding sitei269Chitooligosaccharide1
Binding sitei358Chitooligosaccharide1

GO - Molecular functioni

  • chitinase activity Source: GO_Central
  • 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 functionGlycosidase, Hydrolase
Biological processCarbohydrate metabolism, Chitin degradation, Polysaccharide degradation
LigandChitin-binding

Enzyme and pathway databases

ReactomeiR-HSA-189085 Digestion of dietary carbohydrate
R-HSA-6798695 Neutrophil degranulation

Protein family/group databases

CAZyiCBM14 Carbohydrate-Binding Module Family 14
GH18 Glycoside Hydrolase Family 18

Names & Taxonomyi

Protein namesi
Recommended name:
Chitotriosidase-1 (EC:3.2.1.14)
Alternative name(s):
Chitinase-1
Gene namesi
Name:CHIT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000133063.15
HGNCiHGNC:1936 CHIT1
MIMi600031 gene
neXtProtiNX_Q13231

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi1118
MalaCardsiCHIT1
MIMi614122 phenotype
OpenTargetsiENSG00000133063
PharmGKBiPA26467

Chemistry databases

ChEMBLiCHEMBL3080
DrugBankiDB03539 2-(Acetylamino)-2-Deoxy-6-O-Methyl-Alpha-D-Allopyranose
DB04404 Allosamizoline
DB04350 Argadin
DB03632 Argifin
DB02325 Isopropyl Alcohol
DB03109 N-Acetyl-D-Allosamine

Polymorphism and mutation databases

BioMutaiCHIT1
DMDMi37999493

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 211 PublicationAdd BLAST21
ChainiPRO_000001194122 – 466Chitotriosidase-1Add BLAST445

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi26 ↔ 51PROSITE-ProRule annotation1 Publication
Glycosylationi100N-linked (GlcNAc...) asparagine; in variant S-1021 Publication1
Disulfide bondi307 ↔ 370PROSITE-ProRule annotation1 Publication
Disulfide bondi450 ↔ 463PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ13231
PeptideAtlasiQ13231
PRIDEiQ13231
ProteomicsDBi59236
59237 [Q13231-2]
59238 [Q13231-3]

PTM databases

iPTMnetiQ13231
PhosphoSitePlusiQ13231

Expressioni

Tissue specificityi

Detected in spleen. Secreted by cultured macrophages.1 Publication

Gene expression databases

BgeeiENSG00000133063 Expressed in 86 organ(s), highest expression level in lymph node
CleanExiHS_CHIT1
ExpressionAtlasiQ13231 baseline and differential
GenevisibleiQ13231 HS

Organism-specific databases

HPAiHPA010575

Interactioni

Subunit structurei

Monomer.3 Publications

Protein-protein interaction databases

BioGridi107542, 4 interactors
STRINGi9606.ENSP00000356198

Chemistry databases

BindingDBiQ13231

Structurei

Secondary structure

1466
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ13231
SMRiQ13231
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13231

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini417 – 466Chitin-binding type-2PROSITE-ProRule annotationAdd BLAST50

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni70 – 71Chitooligosaccharide binding2
Regioni97 – 100Chitooligosaccharide binding4
Regioni210 – 213Chitooligosaccharide binding4

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2806 Eukaryota
COG3325 LUCA
GeneTreeiENSGT00550000074323
HOVERGENiHBG011684
InParanoidiQ13231
KOiK01183
OMAiHFELTVA
OrthoDBiEOG091G014W
PhylomeDBiQ13231
TreeFamiTF315610

Family and domain databases

Gene3Di3.10.50.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF01607 CBM_14, 1 hit
PF00704 Glyco_hydro_18, 1 hit
SMARTiView protein in SMART
SM00494 ChtBD2, 1 hit
SM00636 Glyco_18, 1 hit
SUPFAMiSSF51445 SSF51445, 1 hit
SSF54556 SSF54556, 1 hit
SSF57625 SSF57625, 1 hit
PROSITEiView protein in PROSITE
PS50940 CHIT_BIND_II, 1 hit
PS01095 CHITINASE_18, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:466
Mass (Da):51,681
Last modified:November 1, 1996 - v1
Checksum:iB4312D1E885E386D
GO
Isoform 2 (identifier: Q13231-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     386-387: SL → NG
     388-466: Missing.

Show »
Length:387
Mass (Da):43,133
Checksum:i03A272B8BC5E0D71
GO
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.
Show »
Length:437
Mass (Da):48,565
Checksum:i1A073A5F90A43717
GO
Isoform 4 (identifier: Q13231-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     87-105: Missing.

Note: No experimental confirmation available.
Show »
Length:447
Mass (Da):49,613
Checksum:i4C083E18D767C381
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6REY1D6REY1_HUMAN
Chitotriosidase-1
CHIT1
361Annotation score:

Sequence cautioni

The sequence BAG51478 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04919040R → H. Corresponds to variant dbSNP:rs35920428EnsemblClinVar.1
Natural variantiVAR_06591474E → K Rare variant detected in patients with Gaucher disease type 1. 1 PublicationCorresponds to variant dbSNP:rs137852607EnsemblClinVar.1
Natural variantiVAR_022138102G → 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_049191171Q → H. Corresponds to variant dbSNP:rs12562058Ensembl.1
Natural variantiVAR_024458442A → G2 PublicationsCorresponds to variant dbSNP:rs1065761EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04481687 – 105Missing in isoform 4. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_008633344 – 372Missing in isoform 3. CuratedAdd BLAST29
Alternative sequenceiVSP_008631386 – 387SL → NG in isoform 2. 1 Publication2
Alternative sequenceiVSP_008632388 – 466Missing in isoform 2. 1 PublicationAdd BLAST79

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
CCDSiCCDS1436.1 [Q13231-1]
CCDS58057.1 [Q13231-4]
RefSeqiNP_001243054.2, NM_001256125.1 [Q13231-4]
NP_003456.1, NM_003465.2 [Q13231-1]
UniGeneiHs.201688

Genome annotation databases

EnsembliENST00000255427; ENSP00000255427; ENSG00000133063 [Q13231-4]
ENST00000367229; ENSP00000356198; ENSG00000133063 [Q13231-1]
ENST00000491855; ENSP00000423778; ENSG00000133063 [Q13231-2]
GeneIDi1118
KEGGihsa:1118
UCSCiuc001gzn.3 human [Q13231-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS1436.1 [Q13231-1]
CCDS58057.1 [Q13231-4]
RefSeqiNP_001243054.2, NM_001256125.1 [Q13231-4]
NP_003456.1, NM_003465.2 [Q13231-1]
UniGeneiHs.201688

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1GUVX-ray2.35A22-387[»]
1HKIX-ray2.55A22-386[»]
1HKJX-ray2.60A22-386[»]
1HKKX-ray1.85A22-385[»]
1HKMX-ray2.55A22-386[»]
1LG1X-ray2.78A22-386[»]
1LG2X-ray2.10A22-386[»]
1LQ0X-ray2.20A22-386[»]
1WAWX-ray1.75A22-466[»]
1WB0X-ray1.65A22-466[»]
4WJXX-ray1.00A22-387[»]
4WK9X-ray1.10A22-387[»]
4WKAX-ray0.95A22-386[»]
4WKFX-ray1.10A22-387[»]
4WKHX-ray1.05A22-387[»]
5HBFX-ray1.95A/B1-466[»]
5NR8X-ray1.35A22-387[»]
5NRAX-ray1.27A22-387[»]
5NRFX-ray1.45A22-387[»]
ProteinModelPortaliQ13231
SMRiQ13231
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107542, 4 interactors
STRINGi9606.ENSP00000356198

Chemistry databases

BindingDBiQ13231
ChEMBLiCHEMBL3080
DrugBankiDB03539 2-(Acetylamino)-2-Deoxy-6-O-Methyl-Alpha-D-Allopyranose
DB04404 Allosamizoline
DB04350 Argadin
DB03632 Argifin
DB02325 Isopropyl Alcohol
DB03109 N-Acetyl-D-Allosamine

Protein family/group databases

CAZyiCBM14 Carbohydrate-Binding Module Family 14
GH18 Glycoside Hydrolase Family 18

PTM databases

iPTMnetiQ13231
PhosphoSitePlusiQ13231

Polymorphism and mutation databases

BioMutaiCHIT1
DMDMi37999493

Proteomic databases

PaxDbiQ13231
PeptideAtlasiQ13231
PRIDEiQ13231
ProteomicsDBi59236
59237 [Q13231-2]
59238 [Q13231-3]

Protocols and materials databases

DNASUi1118
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000255427; ENSP00000255427; ENSG00000133063 [Q13231-4]
ENST00000367229; ENSP00000356198; ENSG00000133063 [Q13231-1]
ENST00000491855; ENSP00000423778; ENSG00000133063 [Q13231-2]
GeneIDi1118
KEGGihsa:1118
UCSCiuc001gzn.3 human [Q13231-1]

Organism-specific databases

CTDi1118
DisGeNETi1118
EuPathDBiHostDB:ENSG00000133063.15
GeneCardsiCHIT1
HGNCiHGNC:1936 CHIT1
HPAiHPA010575
MalaCardsiCHIT1
MIMi600031 gene
614122 phenotype
neXtProtiNX_Q13231
OpenTargetsiENSG00000133063
PharmGKBiPA26467
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2806 Eukaryota
COG3325 LUCA
GeneTreeiENSGT00550000074323
HOVERGENiHBG011684
InParanoidiQ13231
KOiK01183
OMAiHFELTVA
OrthoDBiEOG091G014W
PhylomeDBiQ13231
TreeFamiTF315610

Enzyme and pathway databases

ReactomeiR-HSA-189085 Digestion of dietary carbohydrate
R-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

ChiTaRSiCHIT1 human
EvolutionaryTraceiQ13231
GenomeRNAii1118
PROiPR:Q13231
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000133063 Expressed in 86 organ(s), highest expression level in lymph node
CleanExiHS_CHIT1
ExpressionAtlasiQ13231 baseline and differential
GenevisibleiQ13231 HS

Family and domain databases

Gene3Di3.10.50.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF01607 CBM_14, 1 hit
PF00704 Glyco_hydro_18, 1 hit
SMARTiView protein in SMART
SM00494 ChtBD2, 1 hit
SM00636 Glyco_18, 1 hit
SUPFAMiSSF51445 SSF51445, 1 hit
SSF54556 SSF54556, 1 hit
SSF57625 SSF57625, 1 hit
PROSITEiView protein in PROSITE
PS50940 CHIT_BIND_II, 1 hit
PS01095 CHITINASE_18, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCHIT1_HUMAN
AccessioniPrimary (citable) accession number: Q13231
Secondary accession number(s): B3KNW6
, J3KN09, Q0VGG5, Q0VGG6, Q3ZAR1, Q6ISC2, Q9H3V8, Q9UDJ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: November 1, 1996
Last modified: November 7, 2018
This is version 180 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
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