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

Gene ID: 57552, updated on 13-Mar-2020

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
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
Expression
Ubiquitous expression in brain (RPKM 15.5), adrenal (RPKM 10.5) and 23 other tissues See more
Orthologs

Genomic context

See NCEH1 in Genome Data Viewer
Location:
3q26.31
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (172630249..172711067, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (172348435..172429207, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2068 Neighboring gene solute carrier family 31 member 1 pseudogene 1 Neighboring gene nucleosome assembly protein 1 like 5 pseudogene Neighboring gene Sharpr-MPRA regulatory region 3964 Neighboring gene RNA, U6 small nuclear 547, pseudogene Neighboring gene epithelial cell transforming 2 Neighboring gene RNA, U4 small nuclear 4, pseudogene Neighboring gene ATP synthase membrane subunit c locus 1 pseudogene 4

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

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
short-chain carboxylesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sterol esterase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
low-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    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:1249
    Abhydrolase; alpha/beta hydrolases
  3. NM_001146278.2NP_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:1249
    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
    CCDS33893.1
    Related
    ENSP00000418571.3, ENST00000475381.6
    Conserved Domains (1) summary
    pfam07859
    Location:109382
    Abhydrolase_3; alpha/beta hydrolase fold

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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