CEL (carboxyl ester lipase)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1056
Gene name Gene Name - the full gene name approved by the HGNC.
Carboxyl ester lipase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEL
Synonyms (NCBI Gene) Gene synonyms aliases
BAL, BSDL, BSSL, CELL, CEase, FAP, FAPP, LIPA, MODY8
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114840 1848 ENSG00000170835
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Diabetes Mellitus Maturity-onset diabetes of the young type 8 rs193922638, rs778611627 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mason type diabetes maturity onset diabetes mellitus in young N/A N/A ClinVar
Monogenic Diabetes monogenic diabetes N/A N/A ClinVar
Show/Hide Text Mining Associations (40)
Associations from Text Mining Disease 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