Aliases for NCEH1 Gene

Aliases for NCEH1 Gene

  • Neutral Cholesterol Ester Hydrolase 1 2 3 4 5
  • Arylacetamide Deacetylase-Like 1 2 3 4
  • Acetylalkylglycerol Acetylhydrolase 2 3
  • Alkylacetylglycerol Acetylhydrolase 2 3
  • AADACL1 3 4
  • NCEH 3 4
  • EC 3.1.1.79 52
  • EC 3.1.1.- 4
  • KIAA1363 4
  • EC 3.1.1 52

External Ids for NCEH1 Gene

Previous HGNC Symbols for NCEH1 Gene

  • AADACL1

Previous GeneCards Identifiers for NCEH1 Gene

  • GC03M173833
  • GC03M172348
  • GC03M169719

Summaries for NCEH1 Gene

GeneCards Summary for NCEH1 Gene

NCEH1 (Neutral Cholesterol Ester Hydrolase 1) is a Protein Coding gene. Among its related pathways are Lipoprotein metabolism and Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include hydrolase activity and phosphate ion binding. An important paralog of this gene is AADAC.

UniProtKB/Swiss-Prot Summary for NCEH1 Gene

  • 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.

Gene Wiki entry for NCEH1 Gene

Additional gene information for NCEH1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NCEH1 Gene

Genomics for NCEH1 Gene

GeneHancer (GH) Regulatory Elements for NCEH1 Gene

Promoters and enhancers for NCEH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J172707 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 529.5 +1.6 1620 5.7 ZNF217 CTCF NRF1 POLR2G GTF2E2 PHF8 FOS ZNF10 ZIC2 REST NCEH1 ENSG00000287012 piR-50444-324
GH03J172747 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 29.7 -39.1 -39074 5 EP300 ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 ECT2 HSALNG0030755 lnc-NCEH1-3 NCEH1 RNU6-547P piR-31433-009
GH03J172690 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 14.7 +19.1 19148 2.3 CUX1 SKI TEAD1 CTBP1 FOXA2 MAFF SAP130 MAFK SPI1 MXD4 NCEH1 ECT2 lnc-TNFSF10-5 lnc-ECT2-2 LOC100420939
GH03J172676 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 16 +34.3 34264 2.7 CTCF POLR2A TRIM22 TEAD1 RBM25 HDAC2 SMC3 RAD21 YY1 NANOG NCEH1 RNU6-547P piR-30876-079 piR-48393-002
GH03J172635 Enhancer 1.1 Ensembl ENCODE dbSUPER 16.6 +74.3 74348 3.7 ZNF217 EP300 GATAD2B CTBP1 FOS NEUROD1 JUND FOSL1 ELF1 BATF NCEH1 TMEM212 HSALNG0030746 piR-46256-028
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NCEH1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NCEH1

Genomic Locations for NCEH1 Gene

Genomic Locations for NCEH1 Gene
chr3:172,630,249-172,711,218
(GRCh38/hg38)
Size:
80,970 bases
Orientation:
Minus strand
chr3:172,348,039-172,429,008
(GRCh37/hg19)
Size:
80,970 bases
Orientation:
Minus strand

Genomic View for NCEH1 Gene

Genes around NCEH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCEH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NCEH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCEH1 Gene

Proteins for NCEH1 Gene

  • Protein details for NCEH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PIU2-NCEH1_HUMAN
    Recommended name:
    Neutral cholesterol ester hydrolase 1
    Protein Accession:
    Q6PIU2
    Secondary Accessions:
    • B7Z2K4
    • B7Z3A1
    • B7Z5U2
    • B7Z906
    • B7ZAW6
    • F5H7K4
    • Q86WZ1
    • Q9P2I4

    Protein attributes for NCEH1 Gene

    Size:
    408 amino acids
    Molecular mass:
    45808 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH28734.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH47588.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AC007919; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AC069237; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA92601.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAH13028.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAH14142.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAH14802.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NCEH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCEH1 Gene

Selected DME Specific Peptides for NCEH1 Gene

Q6PIU2:
  • YIHGGGWALASAKI
  • MAEELNAVIVSIEYRLVP
  • AQQVSNLIH
  • YPVLQALDFNTPSYQQ
  • VYFPEQIHDV
  • DVLRDDG
  • GDSAGGNL
  • VKVTDTDFDGVEVRVFEG
  • SFGKKSA
  • PKPEEPL
  • LGLSHHL

Post-translational modifications for NCEH1 Gene

  • N-glycosylated.
  • Glycosylation at Asn270, Asn287, and Asn389
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • NCEH1_HUMAN (1563)

Domains & Families for NCEH1 Gene

Gene Families for NCEH1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for NCEH1 Gene

Blocks:
  • Alpha/beta hydrolase fold-3
  • Lipolytic enzyme
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NCEH1 Gene

GenScript: Design optimal peptide antigens:
  • Arylacetamide deacetylase-like 1 (NCEH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PIU2

UniProtKB/Swiss-Prot:

NCEH1_HUMAN :
  • Belongs to the 'GDXG' lipolytic enzyme family.
Family:
  • Belongs to the 'GDXG' lipolytic enzyme family.
genes like me logo Genes that share domains with NCEH1: view

Function for NCEH1 Gene

Molecular function for NCEH1 Gene

UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for NCEH1 Gene

Phenotypes From GWAS Catalog for NCEH1 Gene

Gene Ontology (GO) - Molecular Function for NCEH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004771 sterol esterase activity TAS --
GO:0016787 hydrolase activity IBA,IEA 21873635
GO:0017171 serine hydrolase activity IEA --
GO:0034338 short-chain carboxylesterase activity IBA 21873635
GO:0042301 phosphate ion binding IEA --
genes like me logo Genes that share ontologies with NCEH1: view
genes like me logo Genes that share phenotypes with NCEH1: view

Animal Models for NCEH1 Gene

MGI Knock Outs for NCEH1:

Animal Model Products

CRISPR Products

miRNA for NCEH1 Gene

miRTarBase miRNAs that target NCEH1

Clone Products

  • Addgene plasmids for NCEH1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NCEH1 Gene

Localization for NCEH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCEH1 Gene

Membrane; Single-pass type II membrane protein. Microsome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NCEH1 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
golgi apparatus 3
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 2
lysosome 2
cytoskeleton 1
nucleus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NCEH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with NCEH1: view

Pathways & Interactions for NCEH1 Gene

genes like me logo Genes that share pathways with NCEH1: view

Gene Ontology (GO) - Biological Process for NCEH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006805 xenobiotic metabolic process IEA --
GO:0009056 catabolic process IBA 21873635
GO:0016042 lipid catabolic process IEA --
genes like me logo Genes that share ontologies with NCEH1: view

No data available for SIGNOR curated interactions for NCEH1 Gene

Drugs & Compounds for NCEH1 Gene

(2) Drugs for NCEH1 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
CE(18:2(9Z,12Z)) Experimental Pharma 0
JW 480 Pharma 0

(30) Additional Compounds for NCEH1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CE(10:0)
  • 3b-(Decanoyloxy)-5-cholestene
  • 5-Cholesten-3b-ol caprate
  • Cholest-5-en-3b-ol caprate
  • Cholesterol 3-decanoate
  • Cholesterol 3-decanoic acid
1183-04-6
CE(12:0)
  • (3beta)-Cholest-5-en-3-ol dodecanoate
  • (3beta)-Cholest-5-en-3-ol dodecanoic acid
  • 12:0 Cholesterol ester
  • Cholest-5-en-3-beta-yl laurate
  • Cholest-5-en-3-yl laurate
1908-11-8
CE(14:0)
  • 1-Myristoyl-cholesterol
  • CE(14:0/0:0)
  • Cholesterol 1-tetradecanoic acid
  • Cholesterol ester(14:0)
  • Cholesterol ester(14:0/0:0)
1989-52-2
CE(14:1(9Z))
  • 1-Myristoleoyl-cholesterol
  • 14:1(9Z) Cholesterol ester
  • CE(14:1)
  • CE(14:1/0:0)
  • CE(14:1n5/0:0)
CE(16:0)
  • (3beta)-Cholest-5-en-3-ol hexadecanoate
  • 16:0 Cholesterol ester
  • CE
  • Cholesterol palmitate
  • Cholesteryl hexadecanoate
601-34-3

(1) ApexBio Compounds for NCEH1 Gene

Compound Action Cas Number
JW 480 1354359-53-7
genes like me logo Genes that share compounds with NCEH1: view

Drug Products

Transcripts for NCEH1 Gene

mRNA/cDNA for NCEH1 Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for NCEH1

Alternative Splicing Database (ASD) splice patterns (SP) for NCEH1 Gene

No ASD Table

Relevant External Links for NCEH1 Gene

GeneLoc Exon Structure for
NCEH1

Expression for NCEH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NCEH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NCEH1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.5).

Protein differential expression in normal tissues from HIPED for NCEH1 Gene

This gene is overexpressed in Islet of Langerhans (11.2), Lymph node (9.5), and Spleen (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NCEH1 Gene



Protein tissue co-expression partners for NCEH1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NCEH1

SOURCE GeneReport for Unigene cluster for NCEH1 Gene:

Hs.444099

mRNA Expression by UniProt/SwissProt for NCEH1 Gene:

Q6PIU2-NCEH1_HUMAN
Tissue specificity: Expressed in monocyte-derived macrophages. Up-regulated in invasive melanoma and breast carcinoma cell lines.

Evidence on tissue expression from TISSUES for NCEH1 Gene

  • Nervous system(4.8)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with NCEH1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NCEH1 Gene

Orthologs for NCEH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NCEH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NCEH1 31 30
  • 98.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NCEH1 31 30
  • 89.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NCEH1 31 30
  • 87.34 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nceh1 30
  • 82.68 (n)
mouse
(Mus musculus)
Mammalia Nceh1 17 31 30
  • 82.27 (n)
oppossum
(Monodelphis domestica)
Mammalia NCEH1 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves NCEH1 31 30
  • 72.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NCEH1 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5783 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33437 30
zebrafish
(Danio rerio)
Actinopterygii nceh1b 31 30
  • 56.18 (n)
OneToMany
nceh1a 31
  • 50 (a)
OneToMany
CR376848.1 31
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T09B9.1 31 30
  • 46.75 (n)
ManyToMany
Y43F8A.3 31
  • 25 (a)
ManyToMany
trcs-1 31
  • 25 (a)
ManyToMany
F16F9.4 31
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 27 (a)
OneToMany
Species where no ortholog for NCEH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NCEH1 Gene

ENSEMBL:
Gene Tree for NCEH1 (if available)
TreeFam:
Gene Tree for NCEH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NCEH1: view image

Paralogs for NCEH1 Gene

Paralogs for NCEH1 Gene

(4) SIMAP similar genes for NCEH1 Gene using alignment to 4 proteins:

  • NCEH1_HUMAN
  • F8WE33_HUMAN
  • H7C046_HUMAN
  • J3KN69_HUMAN
genes like me logo Genes that share paralogs with NCEH1: view

Variants for NCEH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NCEH1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
772866 Benign: not provided 172,648,004(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
780433 Benign: not provided 172,710,939(-) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
rs17857335 - p.Leu343Met
rs2302815 - p.Lys71Gln
rs35316420 - p.Val19Phe

Additional dbSNP identifiers (rs#s) for NCEH1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NCEH1 Gene

Variant ID Type Subtype PubMed ID
dgv627n27 CNV gain 19166990
dgv8730n54 CNV gain 21841781
esv2726213 CNV deletion 23290073
esv2726214 CNV deletion 23290073
esv3390265 CNV insertion 20981092
esv3395741 CNV duplication 20981092
esv3562917 CNV deletion 23714750
esv3598669 CNV gain 21293372
esv3598672 CNV loss 21293372
esv3598676 CNV loss 21293372
nsv1073695 CNV deletion 25765185
nsv4118 CNV insertion 18451855
nsv471060 CNV gain 18288195
nsv512817 CNV insertion 21212237
nsv518366 CNV loss 19592680
nsv7356 OTHER inversion 18451855

Variation tolerance for NCEH1 Gene

Residual Variation Intolerance Score: 20% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.51; 77.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NCEH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NCEH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCEH1 Gene

Disorders for NCEH1 Gene

Additional Disease Information for NCEH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for NCEH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NCEH1 Gene

Publications for NCEH1 Gene

  1. An enzyme that regulates ether lipid signaling pathways in cancer annotated by multidimensional profiling. (PMID: 17052608) Chiang KP … Cravatt BF (Chemistry & biology 2006) 2 3 4 54
  2. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 54
  3. Orphan enzymes in ether lipid metabolism. (PMID: 22771767) Watschinger K … Werner ER (Biochimie 2013) 2 3 54
  4. Identification of neutral cholesterol ester hydrolase, a key enzyme removing cholesterol from macrophages. (PMID: 18782767) Okazaki H … Ishibashi S (The Journal of biological chemistry 2008) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for NCEH1 Gene

Sources for NCEH1 Gene