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

Gene ID: 57552, updated on 6-Jul-2014
Official Symbol
NCEH1provided by HGNC
Official Full Name
neutral cholesterol ester hydrolase 1provided by HGNC
Primary source
HGNC:29260
See related
Ensembl:ENSG00000144959; HPRD:07489; MIM:613234; Vega:OTTHUMG00000156872
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
See NCEH1 in Epigenomics, MapViewer
Location:
3q26.31
Exon count :
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (172630645..172711417, 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 TBP-like 1 pseudogene Neighboring gene tumor necrosis factor (ligand) superfamily, member 10 Neighboring gene solute carrier family 31 (copper transporter), member 1 pseudogene 1 Neighboring gene nucleosome assembly protein 1-like 5 pseudogene Neighboring gene epithelial cell transforming 2 Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 4 Neighboring gene spermatogenesis associated 16

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

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

Protein interactions

Protein Gene Interaction Pubs
Tat, p14 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 Protein Interaction Database

  • Bile secretion, organism-specific biosystem (from KEGG)
    Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Bile secretion, conserved biosystem (from KEGG)
    Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carboxylic ester hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
neutral cholesterol ester hydrolase 1
Names
neutral cholesterol ester hydrolase 1
arylacetamide deacetylase-like 1
NP_001139748.1
NP_001139749.1
NP_001139750.1
NP_065843.3

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_001146276.1NP_001139748.1  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, DB289027
    Consensus CDS
    CCDS54682.1
    UniProtKB/Swiss-Prot
    Q6PIU2
    Related
    ENSP00000442464, ENST00000538775
    Conserved Domains (2) summary
    pfam07859
    Location:141422
    Blast Score: 408
    Abhydrolase_3; alpha/beta hydrolase fold
    cl19144
    Location:116239
    Blast Score: 152
    Peptidase_S9; Prolyl oligopeptidase family
  2. NM_001146277.1NP_001139749.1  neutral cholesterol ester hydrolase 1 isoform c

    See proteins identical to 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, BG701753, BP395319, DB289027, DC306836
    Consensus CDS
    CCDS54681.1
    UniProtKB/Swiss-Prot
    Q6PIU2
    Conserved Domains (2) summary
    pfam07859
    Location:1249
    Blast Score: 368
    Abhydrolase_3; alpha/beta hydrolase fold
    cl19144
    Location:166
    Blast Score: 122
    Peptidase_S9; Prolyl oligopeptidase family
  3. NM_001146278.1NP_001139750.1  neutral cholesterol ester hydrolase 1 isoform c

    See proteins identical to 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, DB289027
    Consensus CDS
    CCDS54681.1
    UniProtKB/Swiss-Prot
    Q6PIU2
    Related
    ENSP00000443227, ENST00000543711
    Conserved Domains (2) summary
    pfam07859
    Location:1249
    Blast Score: 368
    Abhydrolase_3; alpha/beta hydrolase fold
    cl19144
    Location:166
    Blast Score: 122
    Peptidase_S9; Prolyl oligopeptidase family
  4. NM_020792.4NP_065843.3  neutral cholesterol ester hydrolase 1 isoform b

    See proteins identical to NP_065843.3

    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, DB289027
    Consensus CDS
    CCDS33893.1
    UniProtKB/TrEMBL
    J3KN69
    UniProtKB/Swiss-Prot
    Q6PIU2
    Related
    ENSP00000273512, ENST00000273512
    Conserved Domains (2) summary
    pfam07859
    Location:141414
    Blast Score: 441
    Abhydrolase_3; alpha/beta hydrolase fold
    cl19144
    Location:116231
    Blast Score: 178
    Peptidase_S9; Prolyl oligopeptidase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    172630645..172711417
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247672.2XP_005247729.1  

    Conserved Domains (2) summary
    pfam07859
    Location:173428
    Blast Score: 383
    Abhydrolase_3; alpha/beta hydrolase fold
    cl19144
    Location:173245
    Blast Score: 129
    Peptidase_S9; Prolyl oligopeptidase family

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    169719068..169799827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    172311351..172391945
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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