InnateDB Protein
|
IDBP-90636.7
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
CEL
|
Protein Name
|
carboxyl ester lipase (bile salt-stimulated lipase)
|
Synonyms
|
BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP; LIPA; MODY8;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000342217
|
InnateDB Gene
|
IDBG-90630 (CEL)
|
Protein Structure
|
|
Function |
Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides.
|
Subcellular Localization |
Secreted.
|
Disease Associations |
Maturity-onset diabetes of the young 8 with exocrine dysfunction (MODY8) [MIM:609812]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin- independence at the beginning of the disease. {ECO:0000269PubMed:16369531}. Note=The disease is caused by mutations affecting the gene represented in this entry. The disease can be caused by frameshift deletions in the variable number of tandem repeats (VNTR)-containing exon 11 of the CEL gene (PubMed:16369531). {ECO:0000269PubMed:16369531}.
|
Tissue Specificity |
Mammary gland and pancreas. Expressed by eosinophils. {ECO:0000269PubMed:11834744}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
|
Protein-Protein |
2
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR002018
Carboxylesterase, type B
IPR013094
Alpha/beta hydrolase fold-3
IPR029058
Alpha/Beta hydrolase fold
|
PFAM |
PF00135
PF07859
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P19835
|
PhosphoSite |
PhosphoSite-P19835
|
TrEMBL |
Q9UMB1
|
UniProt Splice Variant |
|
Entrez Gene |
1056
|
UniGene |
Hs.533258
|
RefSeq |
|
HUGO |
HGNC:1848
|
OMIM |
114840
|
CCDS |
|
HPRD |
07509
|
IMGT |
|
EMBL |
AF072711
AL162417
CH471090
M54994
M85201
M94579
S40178
S79774
X54457
|
GenPept |
AAA51973
AAA52014
AAA63211
AAB22537
AAB35488
AAC26514
CAA38325
CAI13412
EAW88033
|
|
|