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Protein

Chitotriosidase-1

Gene

CHIT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 donorIEP:1
Binding sitei269Chitooligosaccharide1
Binding sitei358Chitooligosaccharide1

GO - Molecular functioni

  • chitinase activity Source: UniProtKB
  • chitin binding Source: UniProtKB
  • 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.

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 ↔ 51IEP:1 Publication
Glycosylationi100N-linked (GlcNAc...) asparagine; in variant S-1021 Publication1
Disulfide bondi307 ↔ 370IEP:1 Publication
Disulfide bondi450 ↔ 463IEP:

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ13231.
PeptideAtlasiQ13231.
PRIDEiQ13231.

PTM databases

iPTMnetiQ13231.
PhosphoSitePlusiQ13231.

Expressioni

Tissue specificityi

Detected in spleen. Secreted by cultured macrophages.1 Publication

Gene expression databases

BgeeiENSG00000133063.
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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi23 – 29ND:7
Helixi32 – 34ND:3
Helixi37 – 39ND:3
Helixi43 – 45ND:3
Turni48 – 50ND:3
Beta strandi52 – 62ND:11
Beta strandi65 – 67ND:3
Helixi73 – 86ND:14
Beta strandi91 – 97ND:7
Turni99 – 101ND:3
Helixi104 – 110ND:7
Helixi113 – 130ND:18
Beta strandi133 – 138ND:6
Beta strandi144 – 146ND:3
Helixi151 – 173ND:23
Beta strandi179 – 185ND:7
Helixi188 – 194ND:7
Helixi197 – 201ND:5
Beta strandi205 – 210ND:6
Beta strandi219 – 221ND:3
Helixi236 – 240ND:5
Helixi243 – 252ND:10
Helixi257 – 259ND:3
Beta strandi260 – 274ND:15
Beta strandi284 – 288ND:5
Turni293 – 295ND:3
Beta strandi300 – 302ND:3
Helixi303 – 306ND:4
Beta strandi313 – 317ND:5
Turni318 – 321ND:4
Beta strandi322 – 327ND:6
Beta strandi330 – 333ND:4
Helixi337 – 349ND:13
Beta strandi353 – 358ND:6
Helixi360 – 362ND:3
Beta strandi367 – 372ND:6
Helixi376 – 384ND:9
Helixi388 – 397ND:10
Turni419 – 422ND:4
Beta strandi425 – 430ND:6
Beta strandi433 – 441ND:9
Beta strandi444 – 449ND:6
Beta strandi455 – 457ND:3
Turni458 – 461ND:4
Beta strandi462 – 464ND:3

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[»]
ProteinModelPortaliQ13231.
SMRiQ13231.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13231.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini417 – 466Chitin-binding type-2IEP:Add 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.
OMAiVCYQGTW.
OrthoDBiEOG091G014W.
PhylomeDBiQ13231.
TreeFamiTF315610.

Family and domain databases

Gene3Di2.170.140.10. 1 hit.
3.10.50.10. 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. 2 hits.
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

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

Sequence cautioni

The sequence BAG51478 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.IKR:

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:rs35920428Ensembl.1
Natural variantiVAR_06591474E → K Rare variant detected in patients with Gaucher disease type 1. 1 PublicationCorresponds to variant dbSNP:rs137852607Ensembl.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:rs2297950Ensembl.1
Natural variantiVAR_049191171Q → H. Corresponds to variant dbSNP:rs12562058Ensembl.1
Natural variantiVAR_024458442A → G2 PublicationsCorresponds to variant dbSNP:rs1065761Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04481687 – 105Missing in isoform 4. IBD:Add BLAST19
Alternative sequenceiVSP_008633344 – 372Missing in isoform 3. IKR:Add BLAST29
Alternative sequenceiVSP_008631386 – 387SL → NG in isoform 2. IBD:2
Alternative sequenceiVSP_008632388 – 466Missing in isoform 2. IBD:Add 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

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 22, 2017
This is version 174 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. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  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. SIMILARITY comments
    Index of protein domains and families