Human Gene NCEH1 (ENST00000475381.7_10) from GENCODE V47lift37
  Description: neutral cholesterol ester hydrolase 1, transcript variant 2 (from RefSeq NM_020792.6)
Gencode Transcript: ENST00000475381.7_10
Gencode Gene: ENSG00000144959.11_12
Transcript (Including UTRs)
   Position: hg19 chr3:172,348,039-172,428,857 Size: 80,819 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr3:172,351,265-172,428,774 Size: 77,510 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:172,348,039-172,428,857)mRNA (may differ from genome)Protein (408 aa)
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-  Comments and Description Text from UniProtKB
  ID: NCEH1_HUMAN
DESCRIPTION: RecName: Full=Neutral cholesterol ester hydrolase 1; Short=NCEH; EC=3.1.1.-; AltName: Full=Arylacetamide deacetylase-like 1;
FUNCTION: Hydrolyzes 2-acetyl monoalkylglycerol ether, the penultimate precursor of the pathway for de novo synthesis of platelet-activating factor. May be responsible for cholesterol ester hydrolysis in macrophages, thereby contributing to the development of atherosclerosis. Also involved in organ detoxification by hydrolyzing exogenous organophosphorus compounds. May contribute to cancer pathogenesis by promoting tumor cell migration.
SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein (Probable). Microsome (By similarity).
TISSUE SPECIFICITY: Expressed in monocyte-derived macrophages. Up- regulated in invasive melanoma and breast carcinoma cell lines.
PTM: N-glycosylated.
SIMILARITY: Belongs to the 'GDXG' lipolytic enzyme family.
SEQUENCE CAUTION: Sequence=AAH28734.2; Type=Erroneous initiation; Sequence=AAH47588.2; Type=Erroneous initiation; Sequence=BAA92601.1; Type=Erroneous initiation; Sequence=BAH13028.1; Type=Erroneous initiation; Sequence=BAH14142.1; Type=Erroneous initiation; Sequence=BAH14802.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.23 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 187.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.4083-0.402 Picture PostScript Text
3' UTR -774.803226-0.240 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013094 - AB_hydrolase_3
IPR017157 - Arylacetamide_deacetylase
IPR002168 - Lipase_GDXG_AS

Pfam Domains:
PF00135 - Carboxylesterase family
PF07859 - alpha/beta hydrolase fold

SCOP Domains:
53474 - alpha/beta-Hydrolases

ModBase Predicted Comparative 3D Structure on Q6PIU2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004771 sterol esterase activity
GO:0016787 hydrolase activity
GO:0017171 serine hydrolase activity
GO:0052689 carboxylic ester hydrolase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0006805 xenobiotic metabolic process
GO:0008152 metabolic process
GO:0009056 catabolic process
GO:0016042 lipid catabolic process
GO:0034383 low-density lipoprotein particle clearance

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  BC028734 - Homo sapiens arylacetamide deacetylase-like 1, mRNA (cDNA clone MGC:33503 IMAGE:4815834), complete cds.
BC047588 - Homo sapiens arylacetamide deacetylase-like 1, mRNA (cDNA clone IMAGE:5260691), partial cds.
AB037784 - Homo sapiens KIAA1363 mRNA for KIAA1363 protein.
AK299422 - Homo sapiens cDNA FLJ54873 complete cds, highly similar to Homo sapiens arylacetamide deacetylase-like 1 (AADACL1), mRNA.
AK304253 - Homo sapiens cDNA FLJ54901 complete cds, highly similar to Homo sapiens arylacetamide deacetylase-like 1 (AADACL1), mRNA.
AK294811 - Homo sapiens cDNA FLJ50008 complete cds, highly similar to Homo sapiens arylacetamide deacetylase-like 1 (AADACL1), mRNA.
AK295641 - Homo sapiens cDNA FLJ53792 complete cds, highly similar to Homo sapiens arylacetamide deacetylase-like 1 (AADACL1), mRNA.
AK316431 - Homo sapiens cDNA, FLJ79330 complete cds, highly similar to Homo sapiens arylacetamide deacetylase-like 1 (AADACL1), mRNA.
AB384187 - Synthetic construct DNA, clone: pF1KSDA1363, Homo sapiens AADACL1 gene for arylacetamide deacetylase-like 1, complete cds, without stop codon, in Flexi system.
KJ902969 - Synthetic construct Homo sapiens clone ccsbBroadEn_12363 NCEH1 gene, encodes complete protein.
CU688560 - Synthetic construct Homo sapiens gateway clone IMAGE:100022664 5' read AADACL1 mRNA.
AL512752 - Homo sapiens mRNA; cDNA DKFZp667N145 (from clone DKFZp667N145).
JD309830 - Sequence 290854 from Patent EP1572962.
JD489569 - Sequence 470593 from Patent EP1572962.
JD114383 - Sequence 95407 from Patent EP1572962.
JD355940 - Sequence 336964 from Patent EP1572962.
JD516686 - Sequence 497710 from Patent EP1572962.
JD297841 - Sequence 278865 from Patent EP1572962.
JD259650 - Sequence 240674 from Patent EP1572962.
JD381810 - Sequence 362834 from Patent EP1572962.
JD361354 - Sequence 342378 from Patent EP1572962.
JD281117 - Sequence 262141 from Patent EP1572962.
JD423192 - Sequence 404216 from Patent EP1572962.
JD261060 - Sequence 242084 from Patent EP1572962.
JD341217 - Sequence 322241 from Patent EP1572962.
JD501245 - Sequence 482269 from Patent EP1572962.
JD039335 - Sequence 20359 from Patent EP1572962.
JD072750 - Sequence 53774 from Patent EP1572962.
JD459522 - Sequence 440546 from Patent EP1572962.
JD450280 - Sequence 431304 from Patent EP1572962.
JD201958 - Sequence 182982 from Patent EP1572962.
JD360354 - Sequence 341378 from Patent EP1572962.
JD550875 - Sequence 531899 from Patent EP1572962.
JD344945 - Sequence 325969 from Patent EP1572962.
JD434106 - Sequence 415130 from Patent EP1572962.
JD250702 - Sequence 231726 from Patent EP1572962.
JD215011 - Sequence 196035 from Patent EP1572962.
JD036449 - Sequence 17473 from Patent EP1572962.
JD411243 - Sequence 392267 from Patent EP1572962.
JD155074 - Sequence 136098 from Patent EP1572962.
JD315101 - Sequence 296125 from Patent EP1572962.
JD552539 - Sequence 533563 from Patent EP1572962.
JD520958 - Sequence 501982 from Patent EP1572962.
JD150160 - Sequence 131184 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6PIU2 (Reactome details) participates in the following event(s):

R-HSA-6813720 NCEH1 hydrolyzes cholesterol esters
R-HSA-8964038 LDL clearance
R-HSA-8964043 Plasma lipoprotein clearance
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: AADACL1, B7Z2K4, B7Z3A1, B7Z5U2, B7Z906, B7ZAW6, ENST00000475381.1, ENST00000475381.2, ENST00000475381.3, ENST00000475381.4, ENST00000475381.5, ENST00000475381.6, F5H7K4, KIAA1363, NCEH1_HUMAN, NM_020792, Q6PIU2, Q86WZ1, Q9P2I4, uc321tik.1, uc321tik.2
UCSC ID: ENST00000475381.7_10
RefSeq Accession: NM_020792.6
Protein: Q6PIU2 (aka NCEH1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.