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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHIT1 Gene

protein-coding   GIFtS: 64
GCID: GC01M203181

Chitinase 1 (Chitotriosidase)

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chitinase 1 (Chitotriosidase)1 2     CHITD2
EC 3.2.1.143 8     chitotriosidase-12
CHIT2 5     Plasma Methylumbelliferyl Tetra-N-Acetylchitotetraoside Hydrolase2
CHI32     Chitinase-13

External Ids:    HGNC: 19361   Entrez Gene: 11182   Ensembl: ENSG000001330637   OMIM: 6000315   UniProtKB: Q132313   

Export aliases for CHIT1 gene to outside databases

Previous GC identifers: GC01M200868 GC01M198615 GC01M199649 GC01M200474 GC01M199917 GC01M201451 GC01M174350


(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 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)

GeneCards Summary for CHIT1 Gene: 
CHIT1 (chitinase 1 (chitotriosidase)) is a protein-coding gene. Diseases associated with CHIT1 include chitotriosidase deficiency, and crimean-congo hemorrhagic fever. GO annotations related to this gene include chitin binding and cation binding. An important paralog of this gene is CHI3L1.

UniProtKB/Swiss-Prot: CHIT1_HUMAN, Q13231
Function: Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other
pathogens. Isoform 3 has no enzymatic activity




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  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

SwitchGear Promoter luciferase reporter plasmidCHIT1 promoter sequence
   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: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

CHIT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHIT1 gene location

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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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
used as 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 Q9UDJ8
Alternative 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

Explore proteomics data for CHIT1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13231

  • 4 DME Specific Peptides for CHIT1 (Q13231)
     DLDWEYP  CYFTNWA  LCTHLIY  LAIGGWN 

    CHIT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHIT1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001243054.2  NP_001257438.1  NP_003456.1  

    ENSEMBL proteins: 
     ENSP00000356198   ENSP00000423778   ENSP00000255427   ENSP00000421617   ENSP00000438078  

    Human Recombinant Protein Products for CHIT1: 
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    Novus Biologicals CHIT1 Proteins
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    Sino Biological Recombinant Protein for CHIT1
    Sino Biological Cell Lysate for CHIT1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHIT1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IDA19725875
    GO:0005764lysosome IEA--

    CHIT1 for ontologies           About GeneDecksing



    CHIT1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for CHIT1 
    Cloud-Clone Corp. CLIAs for CHIT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR011583 Chitinase_II
     IPR017853 Glycoside_hydrolase_SF
     IPR001223 Glyco_hydro18cat
     IPR013781 Glyco_hydro_catalytic_dom
     IPR001579 Glyco_hydro_18_chit_AS

    Graphical View of Domain Structure for InterPro Entry Q13231

    ProtoNet protein and cluster: Q13231

    4 Blocks protein domains:
    IPB001223 Glycoside hydrolase
    IPB001579 Glycoside hydrolase
    IPB002557 Chitin binding Peritrophin-A
    IPB011583 Chitinase II


    UniProtKB/Swiss-Prot: CHIT1_HUMAN, Q13231
    Similarity: Belongs to the glycosyl hydrolase 18 family. Chitinase class II subfamily
    Similarity: Contains 1 chitin-binding type-2 domain


    CHIT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHIT1_HUMAN, Q13231
    Function: Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other
    pathogens. Isoform 3 has no enzymatic activity
    Catalytic 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,markedly
    elevated 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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004568chitinase activity TAS9748235
    GO:0008061chitin binding TAS9748235
    GO:0008843endochitinase activity IDA19725875
         
    CHIT1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CHIT1:
     Increased G1 DNA content  Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Chit1):
     immune system 

    CHIT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chit1tm1Eli for CHIT1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHIT1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHIT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHIT1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHIT1 

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate CHIT1:
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    SwitchGear 3'UTR luciferase reporter plasmidCHIT1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHIT1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CHIT1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for CHIT1):
        Amino sugar and nucleotide sugar metabolism


    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 I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELANEP082463I2D: score=1 
    HEXAENSP000002680974STRING: ENSP00000268097
    HEXBENSP000002614164STRING: ENSP00000261416
    NAGKENSP000002442044STRING: ENSP00000244204
    RENBPENSP000003773034STRING: ENSP00000377303
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000272polysaccharide catabolic process IEA--
    GO:0005975carbohydrate metabolic process ----
    GO:0006030chitin metabolic process ----
    GO:0006032chitin catabolic process TAS9748235
    GO:0006955immune response NAS9748235

    CHIT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHIT1

    4 HMDB Compounds for CHIT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChitinPoly 2-Acetamido-2-deoxy-D-glucose (see all 8)1398-61-4--
    ChitobioseCBS (see all 3)577-76-4--
    N-Acetyl-D-glucosamine2-(acetylamino)-2-deoxyhexose (see all 9)7512-17-6--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    5 DrugBank Compounds for CHIT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-(Acetylamino)-2-Deoxy-6-O-Methyl-Alpha-D-Allopyranose-- --target--17139284 17016423
    Allosamizoline-- --target--17139284 17016423
    Argadin-- 289665-92-5target--17139284 17016423
    Argifin-- --target--17139284 17016423
    N-Acetyl-D-Allosamine-- --target--17139284 17016423

    10/12 Novoseek inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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: AK131093
    10 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)
    ENST00000491855 ENST00000255427 ENST00000503786 ENST00000506427 ENST00000513472
    ENST00000460619 ENST00000535569

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate CHIT1:
    hsa-miR-422a hsa-miR-942 hsa-miR-4303 hsa-miR-378 hsa-miR-378c hsa-miR-1827 hsa-miR-450b-5p hsa-miR-378b
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    Additional mRNA 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):

    CD368652 AK131093 AI693804 BC069614 BX096812 AI097512 CD370771 CA435134 
    BM996433 AK055165 U29615 BM974605 U62662 CA306099 NM_003465 CN479900 
    BX099272 AW444678 BE856422 CA434249 BQ029424 AI918126 AA604212 BG213013 

    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

    (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 <intensity>2/3
    CGAP TAG: --
    CHIT1 Expression
    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, Q13231
    Tissue specificity: Detected in spleen. Secreted by cultured macrophages

        SABiosciences Custom PCR Arrays for CHIT1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHIT1

    (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 9/17 species (see all 17)    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
    chitinase 1 (chitotriosidase)
    59(a)
    1 ↔ 1
    AAWZ02040495(1046-5269)
    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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CTS26
    Putative chitinase, functionally complements A. go...
    19(a)
    1 → many
    IV(1219413-1220948)
    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 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


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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, Q13231
    Polymorphism: 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 [MIM: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


    10/480 SNPs in CHIT1 are shown (see all 480)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22979501,2,4
    C,F,O,A,Hpathogenic1209731239(+) AGTGCC/TGAAAT 7 S G mis1 int1 ese339Minor allele frequency- N:0.00EA NA NS WA CSA EU 10566
    rs1378526071,2,4
    C,Fpathogenic1209731887(-) ATGACG/AAGACT 8 /K /E mis12Minor allele frequency- A:0.00NA EU 5873
    rs2013203851,2
    C,Funtested1209724003(+) GTGCCC/TAGACC 7 * W stg1 int11Minor allele frequency- T:0.01EU 901
    rs587763331,2
    C--203187344(+) AAGGTCAAGGT/-
            
    AAGTC
    5 -- cds1 int11Minor allele frequency- -:0.00NA 2
    rs32160111,2
    C--203192449(+) GTGAG-/CCCCAG 5 -- int12Minor allele frequency- C:0.25NA CSA 4
    rs678146331,2
    C--203199655(+) CATCA-/AAAAAA 5 -- us2k11Minor allele frequency- A:0.50NA 2
    rs355430621,2
    C--203199669(+) AAACA-/AAAAAA 5 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1178258721,2
    F--209721784(+) CAGGCG/ATGCAC 5 -- ds5001 int11Minor allele frequency- A:0.03EA 120
    rs8725831,2
    C,F,O,A,H--209721819(-) GTAGGA/GTGGAA 5 -- ds5001 int119Minor allele frequency- C:0.02EA NA NS WA 1078
    rs798404391,2
    C,F--209721881(+) CAGCAC/TGCCAG 5 -- ds5001 int12Minor allele frequency- T:0.09CSA EA 122

    HapMap Linkage Disequilibrium report for CHIT1 (203181955 - 203242769 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CHIT1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv873110CNV Loss21882294


    Human Gene Mutation Database (HGMD): CHIT1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CHIT1
    DNA2.0 Custom Variant and Variant Library Synthesis for CHIT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600031    OMIM disorders: --

    20/50 diseases for CHIT1 (see all 50):    About MalaCards
    chitotriosidase deficiency    crimean-congo hemorrhagic fever    filariasis    gaucher's disease
    gaucher disease type 3    gaucher disease type 1    krabbe disease    fabry disease
    splenomegaly    niemann-pick disease    interstitial lung disease    pick's disease
    plasmodium falciparum malaria    gangliosidosis    beta thalassemia    thalassemia
    lysosomal storage disease    malaria    candidiasis    fatty liver disease

    2 diseases from the University of Copenhagen DISEASES database for CHIT1:
    Gaucher's disease     Niemann-Pick disease

    CHIT1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/34 Novoseek inferred 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

    (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 195):
    (articles sorted by number of sources associating them with CHIT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Human chitotriosidase polymorphism is associated with human longevity in Mediterranean nonagenarians and centenarians. (PubMed id 19881466)1, 4, 9 Malaguarnera L....Malaguarnera M. (2010)
    3. 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)
    4. 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)
    5. Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity. (PubMed id 17693102)1, 4, 9 Lee P....Beutler E. (2007)
    6. Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthma. (PubMed id 16712652)1, 4, 9 Bierbaum S....Heinzmann A. (2006)
    7. 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)
    8. 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)
    9. 24 bp duplication of CHIT1 gene is not correlated with coronary artery disease in Corsica Island (France). (PubMed id 17916351)1, 4, 9 Piras I....Vona G. (2007)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1118 HGNC: 1936 AceView: CHIT1 Ensembl:ENSG00000133063 euGenes: HUgn1118
    ECgene: CHIT1 Kegg: 1118 H-InvDB: CHIT1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CHIT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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