Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1116
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CHI3L1   Gene   UCSC   Ensembl
Aliases ASRT7, CGP-39, GP-39, GP39, HC-gp39, HCGP-3P, YKL-40, YKL40, YYL-40, hCGP-39
Gene name chitinase 3 like 1
Alternate names chitinase-3-like protein 1, 39 kDa synovial protein, cartilage glycoprotein 39, chitinase 3-like 1 (cartilage glycoprotein-39),
Gene location 1q32.1 (203186793: 203178930)     Exons: 10     NC_000001.11
Gene summary(Entrez) Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009]
OMIM 601525

Protein Summary

Protein general information P36222  

Name: Chitinase 3 like protein 1 (39 kDa synovial protein) (Cartilage glycoprotein 39) (CGP 39) (GP 39) (hCGP 39) (YKL 40)

Length: 383  Mass: 42,625

Tissue specificity: Present in activated macrophages, articular chondrocytes, synovial cells as well as in liver. Very low or undetectable expression in non-inflammatory colon. Undetectable in muscle tissues, lung, pancreas, mononuclear cells, or fibrobla

Sequence MGVKASQTGFVVLVLLQCCSAYKLVCYYTSWSQYREGDGSCFPDALDRFLCTHIIYSFANISNDHIDTWEWNDVT
LYGMLNTLKNRNPNLKTLLSVGGWNFGSQRFSKIASNTQSRRTFIKSVPPFLRTHGFDGLDLAWLYPGRRDKQHF
TTLIKEMKAEFIKEAQPGKKQLLLSAALSAGKVTIDSSYDIAKISQHLDFISIMTYDFHGAWRGTTGHHSPLFRG
QEDASPDRFSNTDYAVGYMLRLGAPASKLVMGIPTFGRSFTLASSETGVGAPISGPGIPGRFTKEAGTLAYYEIC
DFLRGATVHRILGQQVPYATKGNQWVGYDDQESVKSKVQYLKDRQLAGAMVWALDLDDFQGSFCGQDLRFPLTNA
IKDALAAT
Structural information
Interpro:  IPR028538 IPR011583 IPR029070 IPR001223 IPR017853

Pfam:  
PF00704

PDB:  
1HJV 1HJW 1HJX 1LA7 1NWR 1NWS 1NWT 1NWU
PDBsum:   1HJV 1HJW 1HJX 1LA7 1NWR 1NWS 1NWT 1NWU
STRING:   ENSP00000255409;
Other Databases GeneCards:  CHI3L1;  Malacards:  CHI3L1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005201 extracellular matrix stru
ctural constituent
NAS molecular_function
GO:0005578 proteinaceous extracellul
ar matrix
NAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005737 cytoplasm
ISS cellular_component
GO:0005783 endoplasmic reticulum
ISS cellular_component
GO:0005975 carbohydrate metabolic pr
ocess
IEA biological_process
GO:0006915 apoptotic process
IEA biological_process
GO:0006954 inflammatory response
IEP biological_process
GO:0007250 activation of NF-kappaB-i
nducing kinase activity
ISS biological_process
GO:0008061 chitin binding
IDA molecular_function
GO:0008061 chitin binding
IDA molecular_function
GO:0009612 response to mechanical st
imulus
IEP biological_process
GO:0010800 positive regulation of pe
ptidyl-threonine phosphor
ylation
ISS biological_process
GO:0030246 carbohydrate binding
IEA molecular_function
GO:0030324 lung development
IMP biological_process
GO:0034612 response to tumor necrosi
s factor
IEP biological_process
GO:0045766 positive regulation of an
giogenesis
IMP biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0051216 cartilage development
NAS biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IMP biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:0070555 response to interleukin-1
IEP biological_process
GO:0070741 response to interleukin-6
IEP biological_process
GO:0071347 cellular response to inte
rleukin-1
IEA biological_process
GO:0071356 cellular response to tumo
r necrosis factor
ISS biological_process
GO:0072606 interleukin-8 secretion
ISS biological_process
GO:0004568 chitinase activity
IDA molecular_function
GO:0004568 chitinase activity
IDA molecular_function
GO:0006032 chitin catabolic process
IBA biological_process
GO:0004553 hydrolase activity, hydro
lyzing O-glycosyl compoun
ds
IEA molecular_function
GO:0005201 extracellular matrix stru
ctural constituent
NAS molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
NAS cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
ISS cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
ISS cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005975 carbohydrate metabolic pr
ocess
IEA biological_process
GO:0006915 apoptotic process
IEA biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0006954 inflammatory response
IEP biological_process
GO:0007250 activation of NF-kappaB-i
nducing kinase activity
IEA biological_process
GO:0007250 activation of NF-kappaB-i
nducing kinase activity
ISS biological_process
GO:0008061 chitin binding
IEA molecular_function
GO:0008061 chitin binding
IDA molecular_function
GO:0008061 chitin binding
IDA molecular_function
GO:0009612 response to mechanical st
imulus
IEP biological_process
GO:0010800 positive regulation of pe
ptidyl-threonine phosphor
ylation
IEA biological_process
GO:0010800 positive regulation of pe
ptidyl-threonine phosphor
ylation
ISS biological_process
GO:0030246 carbohydrate binding
IEA molecular_function
GO:0030324 lung development
IMP biological_process
GO:0034612 response to tumor necrosi
s factor
IEP biological_process
GO:0045766 positive regulation of an
giogenesis
IEA biological_process
GO:0045766 positive regulation of an
giogenesis
IMP biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0051216 cartilage development
NAS biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IEA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IMP biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:0070555 response to interleukin-1
IEP biological_process
GO:0070741 response to interleukin-6
IEP biological_process
GO:0071347 cellular response to inte
rleukin-1
IEA biological_process
GO:0071356 cellular response to tumo
r necrosis factor
IEA biological_process
GO:0071356 cellular response to tumo
r necrosis factor
ISS biological_process
GO:0072606 interleukin-8 secretion
IEA biological_process
GO:0072606 interleukin-8 secretion
ISS biological_process
GO:0004568 chitinase activity
IDA molecular_function
GO:0004568 chitinase activity
IDA molecular_function
GO:0006032 chitin catabolic process
IBA biological_process
GO:0005201 extracellular matrix stru
ctural constituent
NAS molecular_function
GO:0005578 proteinaceous extracellul
ar matrix
NAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005737 cytoplasm
ISS cellular_component
GO:0005783 endoplasmic reticulum
ISS cellular_component
GO:0006954 inflammatory response
IEP biological_process
GO:0007250 activation of NF-kappaB-i
nducing kinase activity
ISS biological_process
GO:0008061 chitin binding
IDA molecular_function
GO:0008061 chitin binding
IDA molecular_function
GO:0009612 response to mechanical st
imulus
IEP biological_process
GO:0010800 positive regulation of pe
ptidyl-threonine phosphor
ylation
ISS biological_process
GO:0030324 lung development
IMP biological_process
GO:0034612 response to tumor necrosi
s factor
IEP biological_process
GO:0045766 positive regulation of an
giogenesis
IMP biological_process
GO:0051216 cartilage development
NAS biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IMP biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:0070555 response to interleukin-1
IEP biological_process
GO:0070741 response to interleukin-6
IEP biological_process
GO:0071356 cellular response to tumo
r necrosis factor
ISS biological_process
GO:0072606 interleukin-8 secretion
ISS biological_process
GO:0004568 chitinase activity
IDA molecular_function
GO:0004568 chitinase activity
IDA molecular_function
GO:0006032 chitin catabolic process
IBA biological_process

Diseases

Associated diseases References
Asthma PMID: 19264973
Cancer PMID: 19255724
Diabetes PMID: 19421404
Endometrial cancer PMID: 28624692
Endometriosis PMID: 24533749
Hypersensitivity PMID: 19106306
Hypertension PMID: 19536175
Peritoneal endometriosis PMID: 19701838
Polycystic ovary syndrome (PCOS) PMID: 24471491
Sarcoidosis PMID: 17236752
Schizophrenia PMID: 17160890
Endometriosis INFBASE24533749
Peritoneal endometriosis INFBASE19701838

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24533749 Endometrio
sis

88 (53 patients
with surgicall
y proven endome
triosis were in
cluded, 35 pati
ents without en
dometriosis com
prised the cont
rol group)

Show abstract
26411218 Endometrio
sis

63 (33 endometr
iosis patients,
30 healthy con
trols)

Show abstract
19701838 Endometrio
sis (Perit
oneal)

27 patients who
se pathologic r
eports indicate
d invasion of t
he peritoneum b
y endometriosis
YKL-40
Show abstract