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

    Gene ID: 57552, updated on 3-Nov-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 serine hydrolase activity. Predicted to be involved in ether lipid metabolic process. Predicted to act upstream of or within protein dephosphorylation and xenobiotic metabolic process. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 15.5), adrenal (RPKM 10.5) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NCEH1 in Genome Data Viewer
    Location:
    3q26.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (172630249..172711067, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (175415304..175496818, complement)
    RS_2024_09 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. 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
    2. Enzyme annotation with chemical tools. Herman AG, et al. Chem Biol, 2006 Oct. PMID 17052604
    3. An enzyme that regulates ether lipid signaling pathways in cancer annotated by multidimensional profiling. Chiang KP, et al. Chem Biol, 2006 Oct. PMID 17052608
    4. 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
    5. Psoriasis Skin Inflammation-Induced microRNA-26b Targets NCEH1 in Underlying Subcutaneous Adipose Tissue. Cheung L, et al. J Invest Dermatol, 2016 Mar. PMID 27015452

    See all (45) 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)

    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 ester 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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