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

    Gene ID: 57552, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 15.5), adrenal (RPKM 10.5) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001146276.3NP_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:109390
      Abhydrolase_3; alpha/beta hydrolase fold
    2. NM_001146277.3NP_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:1248
      Abhydrolase; alpha/beta hydrolases
    3. NM_001146278.3NP_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:1248
      Abhydrolase; alpha/beta hydrolases
    4. NM_020792.6NP_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:109382
      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)