CHIT1 Gene
protein-coding GIFtS: 63
GCID: GC01M203181
|
|
chitinase 1 (chitotriosidase)
| |
Aliases
for CHIT1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chitinase 1 (Chitotriosidase)1 2 | | CHITD2 | | CHIT1 2 5 | | Chitotriosidase-11 | | CHI31 2 | | Plasma Methylumbelliferyl Tetra-N-Acetylchitotetraoside Hydrolase2 | | EC 3.2.1.143 8 | | Chitinase-13 |
Export aliases for CHIT1 gene to outside databasesPrevious GC identifers: GC01M200868 GC01M198615 GC01M199649 GC01M200474 GC01M199917 GC01M201451 GC01M174350 |
Summaries
for CHIT1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CHIT1:
Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher diseasepatients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activatedmacrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme witha 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)
UniProtKB/Swiss-Prot: CHIT1_HUMAN, Q13231Function: Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and otherpathogens. Isoform 3 has no enzymatic activity
|
Genomic Views
for CHIT1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004487.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CHIT1 gene promoter:
C/EBPbeta NF-1 oct-B3 oct-B2 NRSF form 1 AP-4 Tal-1beta NRSF form 2 E47 IRF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for CHIT1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHIT1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q31-q32 Ensembl cytogenetic band: 1q32.1 HGNC cytogenetic band: 1q31-q32CHIT1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M203181: view genomic region
(about GC identifiers)
Start:
|
203,181,955 bp from pter |
End:
|
203,242,769 bp from pter |
Size:
|
60,815 bases |
Orientation:
|
minus strand |
|
Proteins
for CHIT1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CHIT1_HUMAN, Q13231 (See
protein sequence)Recommended Name: Chitotriosidase-1 precursor Size: 466 amino acids; 51681 Da
Subunit: Monomer
Subcellular location: Secreted. Lysosome. Note=A small proportion is lysosomal
Miscellaneous: Very high plasma levels of CHIT1 are found in patients with Gaucher disease type 1 (GD I). Can be usedas diagnostic aid and to evaluate the success of treatment that brings levels back to normal
Sequence caution: Sequence=BAG51478.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6/10 PDB 3D structures from  and Proteopedia  for CHIT1 (see all 10):1GUV (3D)
1HKI (3D)
1HKJ (3D)
1HKK (3D)
1HKM (3D)
1LG1 (3D)
Secondary accessions: B3KNW6 J3KN09 Q0VGG5 Q0VGG6 Q3ZAR1 Q6ISC2 Q9H3V8 Q9UDJ8Alternative splicing: 4 isoforms: Q13231-1 Q13231-2 Q13231-3 Q13231-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CHIT1: NX_Q13231
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q13231
4 DME Specific Peptides for CHIT1 (Q13231)
CHIT1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001243054.2 NP_001257438.1 NP_003456.1
ENSEMBL proteins: ENSP00000356198 ENSP00000255427 ENSP00000423778 ENSP00000421617 ENSP00000438078
Human Recombinant Protein Products for CHIT1:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
CHIT1 for ontologies About GeneDecksing
CHIT1 Antibody Products:
Assay Products for CHIT1: |
Protein
Domains /
Families
for CHIT1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CHIT1 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q13231ProtoNet protein and cluster: Q13231 4 Blocks protein families: IPB001223 Glycoside hydrolase IPB001579 Glycoside hydrolase IPB002557 Chitin binding Peritrophin-A IPB011583 Chitinase II
UniProtKB/Swiss-Prot: CHIT1_HUMAN, Q13231Similarity: Belongs to the glycosyl hydrolase 18 family. Chitinase class II subfamilySimilarity: Contains 1 chitin-binding type-2 domain |
Function
for CHIT1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: CHIT1_HUMAN, Q13231Function: Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and otherpathogens. Isoform 3 has no enzymatic activityCatalytic activity: Random hydrolysis of N-acetyl-beta-D-glucosaminide (1->4)-beta-linkages in chitin and chitodextrins Genatlas biochemistry entry for CHIT1:chitinase 1,expressed by macrophages,may be involved in the degradation of chitin containing pathogens,markedlyelevated in plasma of Gaucher patients,deficiency in individuals homozygous for a duplication in exon 10.
Enzyme Number (IUBMB): EC 3.2.1.141 2
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
CHIT1 for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for CHIT1:
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Chit1):
CHIT1 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Chit1tm1Eli for CHIT1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHIT1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHIT1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CHIT1 (NM_003465) | |  | Sino Biological Human cDNA Clone for CHIT1 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHIT1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHIT1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHIT1 |
|
Pathways & Interactions
for CHIT1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Amino sugar and nucleotide sugar metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Kegg Pathway (Kegg details for CHIT1):
CHIT1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHIT1
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
5 Interacting proteins for CHIT1 (Q132313 ENSP000002554274) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
CHIT1 for ontologies About GeneDecksing
|
Drugs & Compounds
for CHIT1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
CHIT1 for compounds About GeneDecksing
 Browse Tocris compounds for CHIT1
4 HMDB Compounds for CHIT1 About this table
5 DrugBank Compounds for CHIT1 About this table
10/12 Novoseek chemical compound relationships for CHIT1 gene (see all 12) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| chitin |
81.5 |
27 |
15025429 (2), 9492324 (2), 20017407 (2), 18485490 (2) (see all 17) |
| miglustat |
80.5 |
3 |
19067373 (2), 17609429 (1) |
| allosamidin |
77.3 |
1 |
12639956 (1) |
| glucosylceramide |
65.6 |
2 |
16497642 (1), 17919309 (1) |
| neopterin |
34.8 |
3 |
19307157 (1), 11924537 (1), 14563449 (1) |
| nash |
32.8 |
6 |
16848812 (4), 16825325 (1) |
| n-acetylglucosamine |
32.3 |
1 |
20017407 (1) |
| lipid |
15.2 |
9 |
11288040 (2), 16848812 (2), 12747811 (1), 15923370 (1) (see all 6) |
| mannose |
14.8 |
2 |
16110781 (1) |
| fibrinogen |
0 |
1 |
15956787 (1) |
Search CenterWatch for drugs/clinical trials and news about CHIT1
|
Transcripts
for CHIT1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CHIT1 gene (3 alternative transcripts): NM_001256125.1 NM_001270509.1 NM_003465.2 Unigene Cluster for CHIT1: Chitinase 1 (chitotriosidase) Hs.201688 [show with all ESTs]Unigene Representative Sequence: AK13109310 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000484834(uc001gzm.1) ENST00000479483 ENST00000367229(uc009xal.1 uc001gzn.2 uc009xam.1 uc009xan.1 uc001gzo.2)
ENST00000255427 ENST00000491855 ENST00000503786 ENST00000506427 ENST00000513472
ENST00000460619 ENST00000535569
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHIT1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHIT1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CHIT1 (NM_003465) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHIT1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHIT1 |
Additional cDNA sequence: AK055165.1 AK131093.1 AK225245.1 AK309341.1 AK314331.1 BC069614.1 BC103695.1 BC105680.1 BC105681.1 BC105682.1 NR_045784.1 NR_045785.1 U29615.1 U62662.1 8 DOTS entries: DT.121408734 DT.95261618 DT.308661 DT.75181417 DT.95134870 DT.121408743 DT.75188875 DT.121408739 24/33 AceView cDNA sequences (see all 33): CD370771 AI693804 CA435134 AI097512 BC069614 AK131093 CD368652 BX096812 BM974605 CN479900 U62662 BX099272 CA434249 AW444678 AK055165 U29615 BM996433 NM_003465 BE856422 CA306099 BG213013 BQ029424 AI918126 AA604212
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CHIT1 (see all 6) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | | | | | |
| SP3: | | | | | - | | | | | | | | | | | | | | | | | | - | | | | - | | | | | | |
| SP4: | | | | | | | | | - | | - | | | | | | | | | | | | - | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for CHIT1
|
Expression
for CHIT1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CHIT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See CHIT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHIT1
SOURCE GeneReport for Unigene cluster: Hs.201688
UniProtKB/Swiss-Prot: CHIT1_HUMAN, Q13231Tissue specificity: Detected in spleen. Secreted by cultured macrophages
SABiosciences Custom PCR Arrays for CHIT1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHIT1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CHIT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHIT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHIT1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHIT1 |
Orthologs
for CHIT1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for CHIT1 gene from 8/21 species (see all 21) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Chit11 , 5 |
chitinase 1 (chitotriosidase)1, 5 |
79.53(n)1
75(a)1 |
|
1 (58.12 cM)5
718841 NM_027979.11 NP_082255.11
1341112425 |
lizard
(Anolis carolinensis) |
Reptilia |
CHIT16 |
-- |
60(a) |
1 ↔ 1 |
AAWZ02040495(1046-5206) |
African clawed frog
(Xenopus laevis) |
Amphibia |
BG406696.12 |
-- |
74.48(n) |
|
BG406696.1 |
rainbow trout
(Oncorhynchus mykiss) |
Actinopterygii |
Omy.126012 |
Oncorhynchus mykiss transcribed sequence with weak more |
76.5(n) |
|
BX883520.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG18693
Cht71 |
heparin binding3
CG1869-PA1 |
52(a)
(best of 13)3
58.22(n)1
54.87(a)1 |
|
63B13
383701 NM_139511.31 NP_647768.31 |
worm
(Caenorhabditis elegans) |
Secernentea |
cht-11 , 3 |
glycosyl hydrolase (family 18)3
Protein CHT-11 |
40(a)
(best of 4)3
50.27(n)1
45.01(a)1 |
|
X(3433096-3435313)3
1806281 NM_076187.31 NP_508588.11 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT4G198101 |
Glycosyl hydrolase family protein with chitinase insertion more |
44.55(n)
38.89(a) |
|
827725 NM_118101.3 NP_193716.1 |
rice
(Oryza sativa) |
Liliopsida |
Os04g03764001 |
hypothetical protein |
47.78(n)
34(a) |
|
4335610 NM_001059116.1 NP_001052581.1 |
ENSEMBL Gene Tree for CHIT1 (if available)
TreeFam Gene Tree for CHIT1 (if available) |
Paralogs
for CHIT1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CHIT1 gene
- CHI3L12 CHIA2 CHI3L22 OVGP12
5 SIMAP similar genes for CHIT1 using alignment to 3 protein entries: CHIT1_HUMAN (see all proteins):FLJ00314 CHIA CHI3L2 CHI3L1 OVGP1
CHIT1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for CHIT1
PGOHUM00000251120
|
Genomic Variants
for CHIT1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
UniProtKB/Swiss-Prot: CHIT1_HUMAN, Q13231Polymorphism: A 24 bp duplication in exon 10 leads to the activation of an alternative splice site and the productionof an inactive protein resulting in chitotriosidase deficiency [MIM:614122]. About 6% of the population are deficientfor CHIT1 activity, while 35% are carriers and show reduced enzyme levels. People with CHIT1 deficiency appearperfectly healthy
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CHIT1 (203181955 - 203242769 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CHIT1: --
Human Gene Mutation Database (HGMD): CHIT1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHIT1 |
|
Disorders
/ Diseases
for CHIT1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CHIT1 for disorders About GeneDecksing
OMIM gene information: 600031
OMIM disorders: --
20/51  diseases for CHIT1 (see all 51): About MalaCardsgaucher's disease crimean-congo hemorrhagic fever niemann-pick disease lysosomal storage disease
iron overload beta thalassemia plasmodium falciparum malaria gaucher disease type 3
gaucher disease type 1 krabbe disease chitotriosidase deficiency pick's disease
hemorrhagic fever fabry disease thalassemia splenomegaly
filariasis sialidosis fatty liver disease allergic rhinitis
2 diseases from the University of Copenhagen DISEASES database for CHIT1:Gaucher's disease Niemann-Pick disease 10/34 Novoseek disease relationships for CHIT1 gene (see all 34) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| gaucher disease |
93.5 |
39 |
8803778 (2), 18501647 (2), 16972172 (2), 7592832 (1) (see all 35) |
| type 1 gaucher disease |
90.1 |
6 |
16527890 (2), 11532627 (1), 16644398 (1), 17464953 (1) (see all 5) |
| gaucher disease, type i |
89.2 |
6 |
8972767 (2), 17605408 (1), 8750610 (1), 11177289 (1) |
| neuronopathic gaucher disease |
71.9 |
1 |
16720480 (1) |
| niemann-pick diseases |
69.9 |
2 |
15369720 (1), 19819171 (1) |
| lysosomal storage diseases |
69.2 |
1 |
18487875 (1) |
| hepatomegaly |
56.5 |
2 |
16972172 (1), 8750610 (1) |
| splenomegaly |
51.6 |
1 |
16972172 (1) |
| sarcoidosis |
48.6 |
42 |
17347558 (6), 18487875 (5), 19347743 (5), 17631992 (5) (see all 10) |
| fabry disease |
45.4 |
1 |
16765076 (1) |
Genetic Association Database (GAD): CHIT1
Human Genome Epidemiology (HuGE) Navigator: CHIT1 (17 documents)
Export disorders for CHIT1 gene to outside databases
|
Publications
for CHIT1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CHIT1 gene, integrated from 9 sources (see all 186):
(articles sorted by number of sources associating them with CHIT1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The human chitotriosidase gene. Nature of inherited enzyme deficiency. (PubMed id 9748235)1, 2, 3, 9 Boot R.G.... Aerts J.M.F.G. (1998)
- Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates. (PubMed id 19725875)1, 2, 9 Bussink A.P....Boot R.G. (2009)
- Purification and characterization of human chitotriosidase, a novel member of the chitinase family of proteins. (PubMed id 7836450)1, 2, 9 Renkema G.H....Aerts J.M.F.G. (1995)
- Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. (PubMed id 17464953)1, 2, 9 Grace M.E....Desnick R.J. (2007)
- Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages. (PubMed id 7592832)1, 2, 9 Boot R.G....Aerts J.M.F.G. (1995)
- Common genetic variants in the interleukin-6 and chitotriosidase genes are associated with the risk for serious infection in children undergoing therapy for acute myeloid leukemia. (PubMed id 16107886)1, 4, 9 Lehrnbecher T....Schwabe D. (2005)
- Chitotriosidase, a chitinase, and the 39-kDa human cartilage glycoprotein, a chitin-binding lectin, are homologues of family 18 glycosyl hydrolases secreted by human macrophages. (PubMed id 9492324)1, 3, 9 Renkema G.H....Aerts J.M. (1998)
- Common polymorphisms in critical genes of innate immunity do not contribute to the risk for chronic disseminated candidiasis in adult leukemia patients. (PubMed id 16110781)1, 4, 9 Choi E.H....Chanock S.J. (2005)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
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External Searches for CHIT1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing CHIT1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing CHIT1 gene
(According to HUGE)
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Specialized Databases showing CHIT1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for CHIT1 | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for CHIT1 gene:
Search GeneIP for patents involving CHIT1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for CHIT1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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