CEL (carboxyl ester lipase)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1056
Gene name Carboxyl ester lipase
Gene symbol CEL
Synonyms (NCBI Gene)
BALBSDLBSSLCELLCEaseFAPFAPPLIPAMODY8
Chromosome 9
Chromosome location 9q34.13
Summary The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysi
miRNA miRNA information provided by mirtarbase database.
6
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT017217 hsa-miR-335-5p Microarray 18185580
MIRT1962017 hsa-miR-3670 CLIP-seq
MIRT1962018 hsa-miR-4426 CLIP-seq
MIRT1962019 hsa-miR-4647 CLIP-seq
MIRT1962020 hsa-miR-4662b CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
Transcription factor Regulation Reference
PTF1A Unknown 11023822
STAT5A Unknown 9841868
STAT5B Unknown 9841868
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (29)
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity TAS 2265692
GO:0004771 Function Sterol ester esterase activity IBA
GO:0004771 Function Sterol ester esterase activity IEA
GO:0004771 Function Sterol ester esterase activity NAS 12031288
GO:0004806 Function Triacylglycerol lipase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114840 1848 ENSG00000170835
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P19835
Protein name Bile salt-activated lipase (BAL) (EC 3.1.1.13) (EC 3.1.1.3) (EC 3.1.1.6) (Bile salt-stimulated lipase) (BSSL) (Bucelipase) (Carboxyl ester lipase) (Cholesterol esterase) (Pancreatic lysophospholipase) (Sterol esterase)
Protein function Catalyzes the hydrolysis of a wide range of substrates including cholesteryl esters, phospholipids, lysophospholipids, di- and tri-acylglycerols, and fatty acid esters of hydroxy fatty acids (FAHFAs) (PubMed:10220579, PubMed:27509211, PubMed:276
PDB 1F6W , 1JMY , 6H0T , 6H0V , 6H18 , 6H19 , 6H1A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00135 COesterase 23 → 542 Carboxylesterase family Domain
PF16058 Mucin-like 561 → 660 Mucin-like Family
PF16058 Mucin-like 649 → 749 Mucin-like Family
Tissue specificity TISSUE SPECIFICITY: Mammary gland and pancreas. Detected in pancreatic and duodenal juice (at protein level) (PubMed:21784842). Expressed by eosinophils. {ECO:0000269|PubMed:11834744, ECO:0000269|PubMed:21784842}.
Sequence
Sequence length 753
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Steroid biosynthesis
Glycerolipid metabolism
Metabolic pathways
Pancreatic secretion
Fat digestion and absorption 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
82
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Maturity-onset diabetes of the young type 8 Likely pathogenic; Pathogenic rs2490437710, rs2490436784, rs193922638, rs778611627 RCV003141309
RCV000019166
RCV000029467
RCV001027986
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CEL-related disorder Uncertain significance; Conflicting classifications of pathogenicity rs756798951, rs2490435311, rs778447237 RCV004756269
RCV003410353
RCV003954768
Familial cancer of breast Benign rs149769617 RCV005915706
Maturity-onset diabetes of the young Conflicting classifications of pathogenicity rs1200339761, rs587780309 RCV004798919
RCV005359118
Monogenic diabetes Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs113056079, rs773990119, rs77696629, rs201012268, rs201336247, rs368907057, rs369868891 RCV000445521
RCV000445378
RCV000445444
RCV000445507
RCV000664127
RCV000664128
RCV001174433
Show/Hide Text Mining Associations (40)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 20566755
Alzheimer Disease Inhibit 32460130
Breast Neoplasms Associate 31561066, 34868337
Carcinoma Hepatocellular Associate 10432315
Carcinoma Pancreatic Ductal Associate 30315106
Carpal Tunnel Syndrome Associate 18544793
Cholesterol Ester Storage Disease Associate 18544793
Demyelinating Diseases Associate 18544793
Diabetes Mellitus Associate 18544793, 33862081, 34850019, 36208030, 36634979
Diabetes Mellitus Type 1 Associate 34850019, 36634979