Gene Gene information from NCBI Gene database.
Entrez ID 57552
Gene name Neutral cholesterol ester hydrolase 1
Gene symbol NCEH1
Synonyms (NCBI Gene)
AADACL1NCEH
Chromosome 3
Chromosome location 3q26.31
miRNA miRNA information provided by mirtarbase database.
556
miRTarBase ID miRNA Experiments Reference
MIRT005151 hsa-miR-30a-5p pSILAC 18668040
MIRT020097 hsa-miR-361-5p Sequencing 20371350
MIRT024804 hsa-miR-215-5p Microarray 19074876
MIRT025849 hsa-miR-7-5p Microarray 19073608
MIRT026590 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004771 Function Sterol ester esterase activity TAS
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613234 29260 ENSG00000144959
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PIU2
Protein name Neutral cholesterol ester hydrolase 1 (NCEH) (EC 3.1.1.-) (Acetylalkylglycerol acetylhydrolase) (2-acetyl MAGE hydrolase) (EC 3.1.1.71) (Arylacetamide deacetylase-like 1)
Protein function Hydrolyzes 2-acetyl monoalkylglycerol ether (1-O-alkyl-2-acetyl-sn-glycerol), the penultimate precursor of the pathway for de novo synthesis of platelet-activating factor (PubMed:17052608). May be responsible for the hydrolysis of cholesterol es
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07859 Abhydrolase_3 109 283 alpha/beta hydrolase fold Domain
PF07859 Abhydrolase_3 287 382 alpha/beta hydrolase fold Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in monocyte-derived macrophages. Up-regulated in invasive melanoma and breast carcinoma cell lines. {ECO:0000269|PubMed:12149457, ECO:0000269|PubMed:18782767}.
Sequence
Sequence length 408
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cortisol synthesis and secretion
Cushing syndrome
Bile secretion
Cholesterol metabolism
  LDL clearance
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 22414021 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 20947831, 30282838
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis LHGDN 18782767
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 20353815, 20947831 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 20947831, 30282838
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 28934392
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 33219617, 38062450 Associate
★☆☆☆☆
Found in Text Mining only