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UniProtKB - Q13231 (CHIT1_HUMAN)

Entry version 197 (02 Jun 2021)
Sequence version 1 (01 Nov 1996)
Previous versions | rss
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Protein

Chitotriosidase-1

Gene

CHIT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei140Proton donorPROSITE-ProRule annotation1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei141ChitooligosaccharidePROSITE-ProRule annotation1
Binding sitei358ChitooligosaccharidePROSITE-ProRule annotation1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosidase, Hydrolase
Biological processCarbohydrate metabolism, Chitin degradation, Polysaccharide degradation
LigandChitin-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q13231

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-189085, Digestion of dietary carbohydrate
R-HSA-6798695, Neutrophil degranulation

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		CBM14, Carbohydrate-Binding Module Family 14
GH18, Glycoside Hydrolase Family 18

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Chitotriosidase-1 (EC:3.2.1.14)
Alternative name(s):
Chitinase-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CHIT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:1936, CHIT1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600031, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q13231

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000133063.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Lysosome, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		1118

MalaCards human disease database

More...MalaCardsi		CHIT1
MIMi614122, phenotype

Open Targets

More...OpenTargetsi		ENSG00000133063

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26467

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q13231, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3080

Drug and drug target database

More...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

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CHIT1

Domain mapping of disease mutations (DMDM)

More...DMDMi		37999493

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 211 PublicationAdd BLAST21
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001194122 – 466Chitotriosidase-1Add BLAST445

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi26 ↔ 51PROSITE-ProRule annotation1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q13231

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q13231

PeptideAtlas

More...PeptideAtlasi		Q13231

PRoteomics IDEntifications database

More...PRIDEi		Q13231

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59236 [Q13231-1]
59237 [Q13231-2]
59238 [Q13231-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q13231, 2 sites, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q13231

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q13231

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in spleen. Secreted by cultured macrophages.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000133063, Expressed in lymph node and 113 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q13231, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q13231, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000133063, Tissue enhanced (adipose tissue, lymphoid tissue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.

3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107542, 6 interactors

Protein interaction database and analysis system

More...IntActi		Q13231, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000356198

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q13231

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q13231, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q13231

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q13231

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini22 – 388GH18PROSITE-ProRule annotationAdd BLAST367
Domaini417 – 466Chitin-binding type-2PROSITE-ProRule annotationAdd BLAST50

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni70 – 71Chitooligosaccharide bindingPROSITE-ProRule annotation2
Regioni97 – 100Chitooligosaccharide bindingPROSITE-ProRule annotation4
Regioni210 – 213Chitooligosaccharide bindingPROSITE-ProRule annotation4
Regioni392 – 424DisorderedSequence analysisAdd BLAST33

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the glycosyl hydrolase 18 family. Chitinase class II subfamily.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2806, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161149

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_002833_3_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q13231

Identification of Orthologs from Complete Genome Data

More...OMAi		FYYCSGG

Database of Orthologous Groups

More...OrthoDBi		1289629at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q13231

TreeFam database of animal gene trees

More...TreeFami		TF315610

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.10.50.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01607, CBM_14, 1 hit
PF00704, Glyco_hydro_18, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00494, ChtBD2, 1 hit
SM00636, Glyco_18, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51445, SSF51445, 1 hit
SSF54556, SSF54556, 1 hit
SSF57625, SSF57625, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50940, CHIT_BIND_II, 1 hit
PS01095, GH18_1, 1 hit
PS51910, GH18_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.Curated
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.

Show »
Length:447
Mass (Da):49,613
Checksum:i4C083E18D767C381
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAG51478 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:rs12562058EnsemblClinVar.1
Natural variantiVAR_024458442A → G2 PublicationsCorresponds to variant dbSNP:rs1065761EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1436.1 [Q13231-1]
CCDS58057.1 [Q13231-4]

NCBI Reference Sequences

More...RefSeqi		NP_001243054.2, NM_001256125.1 [Q13231-4]
NP_003456.1, NM_003465.2 [Q13231-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000255427; ENSP00000255427; ENSG00000133063 [Q13231-4]
ENST00000367229; ENSP00000356198; ENSG00000133063 [Q13231-1]
ENST00000491855; ENSP00000423778; ENSG00000133063 [Q13231-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1118

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1118

UCSC genome browser

More...UCSCi		uc001gzn.3, human [Q13231-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...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[»]
6JJRX-ray1.83A22-396[»]
6JK6X-ray1.57A22-396[»]
6SO0NMR-A418-466[»]
6ZE8X-ray1.50A/B/C/D/E/F22-386[»]
SMRiQ13231
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi107542, 6 interactors
IntActiQ13231, 5 interactors
STRINGi9606.ENSP00000356198

Chemistry databases

BindingDBiQ13231
ChEMBLiCHEMBL3080
DrugBankiDB03539, 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

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

PTM databases

GlyGeniQ13231, 2 sites, 1 O-linked glycan (1 site)
iPTMnetiQ13231
PhosphoSitePlusiQ13231

Genetic variation databases

BioMutaiCHIT1
DMDMi37999493

Proteomic databases

MassIVEiQ13231
PaxDbiQ13231
PeptideAtlasiQ13231
PRIDEiQ13231
ProteomicsDBi59236 [Q13231-1]
59237 [Q13231-2]
59238 [Q13231-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2441, 240 antibodies

The DNASU plasmid repository

More...DNASUi		1118

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

Comparative Toxicogenomics Database

More...CTDi		1118
DisGeNETi1118

GeneCards: human genes, protein and diseases

More...GeneCardsi		CHIT1
HGNCiHGNC:1936, CHIT1
HPAiENSG00000133063, Tissue enhanced (adipose tissue, lymphoid tissue)
MalaCardsiCHIT1
MIMi600031, gene
614122, phenotype
neXtProtiNX_Q13231
OpenTargetsiENSG00000133063
PharmGKBiPA26467
VEuPathDBiHostDB:ENSG00000133063.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2806, Eukaryota
GeneTreeiENSGT00940000161149
HOGENOMiCLU_002833_3_1_1
InParanoidiQ13231
OMAiFYYCSGG
OrthoDBi1289629at2759
PhylomeDBiQ13231
TreeFamiTF315610

Enzyme and pathway databases

PathwayCommonsiQ13231
ReactomeiR-HSA-189085, Digestion of dietary carbohydrate
R-HSA-6798695, Neutrophil degranulation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1118, 3 hits in 984 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CHIT1, human
EvolutionaryTraceiQ13231

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1118
PharosiQ13231, Tbio

Protein Ontology

More...PROi		PR:Q13231
RNActiQ13231, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000133063, Expressed in lymph node and 113 other tissues
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, GH18_1, 1 hit
PS51910, GH18_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCHIT1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13231
Secondary accession number(s): B3KNW6
, J3KN09, Q0VGG5, Q0VGG6, Q3ZAR1, Q6ISC2, Q9H3V8, Q9UDJ8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: November 1, 1996
Last modified: June 2, 2021
This is version 197 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, 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 genetic variants
    List of human entries with genetic variants
  4. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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