CHIT1
Chitotriosidase-1
Also known as: CHI3, CHIT, CHIT1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13231
- Gene
- CHIT1
- Ensembl
- ENSG00000133063
- Chromosome
- 1
- Canonical length
- 466 aa
- Protein class
- Candidate cardiovascular disease genes, Enzymes, Metabolic proteins, Plasma proteins, Predicted secreted proteins
- Secretome location
- Secreted to blood
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
466 residues, UniProt reviewed canonical sequence.
>Q13231|CHIT1
1 MVRSVAWAGF MVLLMIPWGS AAKLVCYFTN WAQYRQGEAR FLPKDLDPSL CTHLIYAFAG
61 MTNHQLSTTE WNDETLYQEF NGLKKMNPKL KTLLAIGGWN FGTQKFTDMV ATANNRQTFV
121 NSAIRFLRKY SFDGLDLDWE YPGSQGSPAV DKERFTTLVQ DLANAFQQEA QTSGKERLLL
181 SAAVPAGQTY VDAGYEVDKI AQNLDFVNLM AYDFHGSWEK VTGHNSPLYK RQEESGAAAS
241 LNVDAAVQQW LQKGTPASKL ILGMPTYGRS FTLASSSDTR VGAPATGSGT PGPFTKEGGM
301 LAYYEVCSWK GATKQRIQDQ KVPYIFRDNQ WVGFDDVESF KTKVSYLKQK GLGGAMVWAL
361 DLDDFAGFSC NQGRYPLIQT LRQELSLPYL PSGTPELEVP KPGQPSEPEH GPSPGQDTFC
421 QGKADGLYPN PRERSSFYSC AAGRLFQQSC PTGLVFSNSC KCCTWNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHIT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 47 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 47 nTPM
- lung: 34 nTPM
- lymph node: 20 nTPM
- adipose tissue: 16 nTPM
- breast: 7.8 nTPM
- cervix: 7.6 nTPM
Single-cell type
- neutrophil progenitors: 257 nCPM
- macrophages: 146 nCPM
- neutrophils: 66 nCPM
- epididymal basal cells: 16 nCPM
- plasma cells: 12 nCPM
- pdcs: 8.7 nCPM
Immune cell
- neutrophil: 0.6 nTPM
- total PBMC: 0.4 nTPM
- non-classical monocyte: 0.2 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
Brain region
- white matter: 4.5 nTPM
- pons: 2.7 nTPM
- medulla oblongata: 1 nTPM
- spinal cord: 0.9 nTPM
- cerebral cortex: 0.8 nTPM
- thalamus: 0.8 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.34
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.19
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chitin catabolic process
- immune response
- polysaccharide catabolic process
- polysaccharide digestion
- response to bacterium
Molecular functions
- chitin binding
- chitinase activity
- endochitinase activity
- hydrolase activity, hydrolyzing O-glycosyl compounds
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Glycoside hydrolase family 18, catalytic domain
- Glycosyl hydrolase family 18, active site
- Chitin binding domain
- Chitinase II/V-like, catalytic domain
- Glycoside hydrolase superfamily
- Chitinase insertion domain superfamily
- Chitin binding domain superfamily
- Glycosyl hydrolase family 18
- Glycosyl hydrolases family 18
- Chitin binding Peritrophin-A domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CHIT1 as an antibody target. Whether an autoantibody or antibody against CHIT1 could matter depends on whether native CHIT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHIT1 is annotated as secreted, so native CHIT1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label CHIT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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