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NCEH1 neutral cholesterol ester hydrolase 1 [ Homo sapiens (human) ]

Gene ID: 57552, updated on 5-Mar-2024

Summary

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Official Symbol
NCEH1provided by HGNC
Official Full Name
neutral cholesterol ester hydrolase 1provided by HGNC
Primary source
HGNC:HGNC:29260
See related
Ensembl:ENSG00000144959 MIM:613234; AllianceGenome:HGNC:29260
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NCEH; AADACL1
Summary
Predicted to enable hydrolase activity. Predicted to be involved in ether lipid metabolic process. Predicted to act upstream of or within SMAD protein signal transduction; protein dephosphorylation; and xenobiotic metabolic process. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 15.5), adrenal (RPKM 10.5) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
3q26.31
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (172630249..172711067, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (175415304..175496818, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (172348039..172428857, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2068 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:172309739-172310938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20828 Neighboring gene Sharpr-MPRA regulatory region 2749 Neighboring gene Sharpr-MPRA regulatory region 14501 Neighboring gene solute carrier family 31 member 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:172330773-172331274 Neighboring gene uncharacterized LOC124909457 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:172394583-172395218 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:172395219-172395854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:172407197-172407696 Neighboring gene NAP1L5 pseudogene 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:172428309-172429508 Neighboring gene RNA, U6 small nuclear 547, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14899 Neighboring gene small nucleolar RNA SNORA72 Neighboring gene epithelial cell transforming 2 Neighboring gene RNA, U4 small nuclear 4, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. KIAA1363 affects retinyl ester turnover in cultured murine and human hepatic stellate cells. Wagner C, et al. J Lipid Res, 2022 Mar. PMID 35101424, Free PMC Article
  2. Psoriasis Skin Inflammation-Induced microRNA-26b Targets NCEH1 in Underlying Subcutaneous Adipose Tissue. Cheung L, et al. J Invest Dermatol, 2016 Mar. PMID 27015452
  3. Interaction of the serine hydrolase KIAA1363 with organophosphorus agents: Evaluation of potency and kinetics. Ross MK, et al. Arch Biochem Biophys, 2016 Jan 15. PMID 26617293, Free PMC Article
  4. Chemoproteomic discovery of AADACL1 as a regulator of human platelet activation. Holly SP, et al. Chem Biol, 2013 Sep 19. PMID 23993462, Free PMC Article
  5. Orphan enzymes in ether lipid metabolism. Watschinger K, et al. Biochimie, 2013 Jan. PMID 22771767, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KIAA1363 affects retinyl ester turnover in cultured murine and human hepatic stellate cells.
    Title: KIAA1363 affects retinyl ester turnover in cultured murine and human hepatic stellate cells.
  2. NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics.
    Title: NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics.
  3. Retinoic acid receptor-related orphan receptor alpha reduces lipid droplets by upregulating neutral cholesterol ester hydrolase 1 in macrophages.
    Title: Retinoic acid receptor-related orphan receptor α reduces lipid droplets by upregulating neutral cholesterol ester hydrolase 1 in macrophages.
  4. Authors discovered that the presence of cholesterol, LDLR-mediated cholesterol endocytosis, and cholesterol efflux are all essential to NCEH-1-mediated neuroprotection. In protecting from alpha-synuclein neurotoxicity, NCEH-1 also stimulates cholesterol-derived neurosteroid formation and lowers cellular reactive oxygen species in mitochondria.
    Title: NCEH-1 modulates cholesterol metabolism and protects against α-synuclein toxicity in a C. elegans model of Parkinson's disease.
  5. Psoriasis inflammation induced microRNA targets NCEH1 in underlying subcutaneous adipose tissue.
    Title: Psoriasis Skin Inflammation-Induced microRNA-26b Targets NCEH1 in Underlying Subcutaneous Adipose Tissue.
  6. Together, the results define the kinetics of inhibition of KIAA1363 by active metabolites of agrochemicals and indicate that KIAA1363 is highly sensitive to inhibition by these compounds.
    Title: Interaction of the serine hydrolase KIAA1363 with organophosphorus agents: Evaluation of potency and kinetics.
  7. Pioglitazone increases ABCA1 expression in an LXR-dependent manner and NCEH1 expression in an LXRalpha-independent manner.
    Title: Pioglitazone reduces lipid droplets in cholesterolosis of the gallbladder by increasing ABCA1 and NCEH1 expression.
  8. Inhibition of AADACL1 activity with a variety of agents blocked platelet aggregation in response to multiple agonists; blocked activation of the small GTPase RAP1 and protein kinase C (PKC).
    Title: Chemoproteomic discovery of AADACL1 as a regulator of human platelet activation.
  9. NCEH1 is expressed in human atheromatous lesions, where it plays a critical role in the hydrolysis of cholesterol ester in human macrophage foam cells, thereby contributing to the initial part of reverse cholesterol transport in human atherosclerosis.
    Title: The critical role of neutral cholesterol ester hydrolase 1 in cholesterol removal from human macrophages.
  10. Ritonavir (at 100 mg once daily and 100 mg twice daily significantly down-regulated neutral cholesterol ester hydrolase 1 in 20 healthy individuals.
    Title: Investigation of low-dose ritonavir on human peripheral blood mononuclear cells using gene expression whole genome microarrays.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates the expression of neutral cholesterol ester hydrolase 1 (NCEH1) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylalkylglycerol acetylhydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphate ion binding IEA
Inferred from Electronic Annotation
more info
  
enables serine hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sterol esterase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in ether lipid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lipid catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in low-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
  
involved_in xenobiotic metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
neutral cholesterol ester hydrolase 1
Names
2-acetyl MAGE hydrolase
acetylalkylglycerol acetylhydrolase
alkylacetylglycerol acetylhydrolase
arylacetamide deacetylase-like 1
NP_001139748.2
NP_001139749.1
NP_001139750.1
NP_065843.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001146276.3 → NP_001139748.2  neutral cholesterol ester hydrolase 1 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC007919, AK304253, BC028734, BP395319, DA856205
    Consensus CDS
    CCDS54682.1
    UniProtKB/TrEMBL
    A0A0A0MTJ9
    Related
    ENSP00000442464.1, ENST00000538775.5
    Conserved Domains (1) summary
    pfam07859
    Location:109 → 390
    Abhydrolase_3; alpha/beta hydrolase fold

  2. NM_001146277.3 → NP_001139749.1  neutral cholesterol ester hydrolase 1 isoform c

    See identical proteins and their annotated locations for NP_001139749.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 3 and 4 encode the same isoform (c).
    Source sequence(s)
    AC007919, BC028734, BP395319, DC306836
    Consensus CDS
    CCDS54681.1
    UniProtKB/Swiss-Prot
    Q6PIU2
    Conserved Domains (1) summary
    cl21494
    Location:1 → 248
    Abhydrolase; alpha/beta hydrolases

  3. NM_001146278.3 → NP_001139750.1  neutral cholesterol ester hydrolase 1 isoform c

    See identical proteins and their annotated locations for NP_001139750.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 3 and 4 encode the same isoform (c).
    Source sequence(s)
    AC007919, AK295641, BP395319, DA856205
    Consensus CDS
    CCDS54681.1
    UniProtKB/Swiss-Prot
    Q6PIU2
    Related
    ENSP00000443227.1, ENST00000543711.5
    Conserved Domains (1) summary
    cl21494
    Location:1 → 248
    Abhydrolase; alpha/beta hydrolases

  4. NM_020792.6 → NP_065843.4  neutral cholesterol ester hydrolase 1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform b) compared to isoform a.
    Source sequence(s)
    AC007919, BC028734, BP395319, DA856205
    Consensus CDS
    CCDS33893.2
    UniProtKB/Swiss-Prot
    B7Z2K4, B7Z3A1, B7Z5U2, B7Z906, B7ZAW6, F5H7K4, Q6PIU2, Q86WZ1, Q9P2I4
    UniProtKB/TrEMBL
    A0A0A0MTJ9
    Related
    ENSP00000418571.4, ENST00000475381.7
    Conserved Domains (1) summary
    pfam07859
    Location:109 → 382
    Abhydrolase_3; alpha/beta hydrolase fold

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    172630249..172711067 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    175415304..175496818 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PIU2.3 GenPept UniProtKB/Swiss-Prot:Q6PIU2

Gene LinkOut

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