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Protein

Neutral cholesterol ester hydrolase 1

Gene

NCEH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei191PROSITE-ProRule annotation1
Active sitei348PROSITE-ProRule annotation1
Active sitei378PROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid degradation, Lipid metabolism

Enzyme and pathway databases

BRENDAi3.1.1.13. 2681.
ReactomeiR-HSA-171052. LDL-mediated lipid transport.

Protein family/group databases

ESTHERihuman-NCEH1. Hormone-sensitive_lipase_like_1.
MEROPSiS09.992.

Chemistry databases

SwissLipidsiSLP:000000634.

Names & Taxonomyi

Protein namesi
Recommended name:
Neutral cholesterol ester hydrolase 1 (EC:3.1.1.-)
Short name:
NCEH
Alternative name(s):
Arylacetamide deacetylase-like 1
Gene namesi
Name:NCEH1
Synonyms:AADACL1, KIAA1363
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:29260. NCEH1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 4CytoplasmicSequence analysis4
Transmembranei5 – 25Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini26 – 408LumenalSequence analysisAdd BLAST383

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: Reactome
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Organism-specific databases

DisGeNETi57552.
OpenTargetsiENSG00000144959.
PharmGKBiPA165697847.

Chemistry databases

ChEMBLiCHEMBL5048.

Polymorphism and mutation databases

BioMutaiNCEH1.
DMDMi74737782.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002659391 – 408Neutral cholesterol ester hydrolase 1Add BLAST408

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi270N-linked (GlcNAc...)Sequence analysis1
Glycosylationi287N-linked (GlcNAc...)1 Publication1
Glycosylationi389N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ6PIU2.
MaxQBiQ6PIU2.
PaxDbiQ6PIU2.
PeptideAtlasiQ6PIU2.
PRIDEiQ6PIU2.

PTM databases

iPTMnetiQ6PIU2.
PhosphoSitePlusiQ6PIU2.
SwissPalmiQ6PIU2.

Expressioni

Tissue specificityi

Expressed in monocyte-derived macrophages. Up-regulated in invasive melanoma and breast carcinoma cell lines.2 Publications

Gene expression databases

BgeeiENSG00000144959.
CleanExiHS_AADACL1.
ExpressionAtlasiQ6PIU2. baseline and differential.
GenevisibleiQ6PIU2. HS.

Organism-specific databases

HPAiHPA026888.

Interactioni

Protein-protein interaction databases

BioGridi121608. 37 interactors.
IntActiQ6PIU2. 9 interactors.
STRINGi9606.ENSP00000442464.

Chemistry databases

BindingDBiQ6PIU2.

Structurei

3D structure databases

ProteinModelPortaliQ6PIU2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi113 – 115Involved in the stabilization of the negatively charged intermediate by the formation of the oxyanion holeBy similarity3

Sequence similaritiesi

Belongs to the 'GDXG' lipolytic enzyme family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1515. Eukaryota.
COG0657. LUCA.
GeneTreeiENSGT00550000074556.
HOVERGENiHBG058974.
InParanoidiQ6PIU2.
KOiK14349.
PhylomeDBiQ6PIU2.

Family and domain databases

Gene3Di3.40.50.1820. 2 hits.
InterProiIPR029058. AB_hydrolase.
IPR013094. AB_hydrolase_3.
IPR017157. Arylacetamide_deacetylase.
IPR033140. Lipase_GDXG_put_SER_AS.
[Graphical view]
PfamiPF07859. Abhydrolase_3. 2 hits.
[Graphical view]
PIRSFiPIRSF037251. Arylacetamide_deacetylase. 1 hit.
SUPFAMiSSF53474. SSF53474. 1 hit.
PROSITEiPS01174. LIPASE_GDXG_SER. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6PIU2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRSSCVLLTA LVALAAYYVY IPLPGSVSDP WKLMLLDATF RGAQQVSNLI
60 70 80 90 100
HYLGLSHHLL ALNFIIVSFG KKSAWSSAQV KVTDTDFDGV EVRVFEGPPK
110 120 130 140 150
PEEPLKRSVV YIHGGGWALA SAKIRYYDEL CTAMAEELNA VIVSIEYRLV
160 170 180 190 200
PKVYFPEQIH DVVRATKYFL KPEVLQKYMV DPGRICISGD SAGGNLAAAL
210 220 230 240 250
GQQFTQDASL KNKLKLQALI YPVLQALDFN TPSYQQNVNT PILPRYVMVK
260 270 280 290 300
YWVDYFKGNY DFVQAMIVNN HTSLDVEEAA AVRARLNWTS LLPASFTKNY
310 320 330 340 350
KPVVQTTGNA RIVQELPQLL DARSAPLIAD QAVLQLLPKT YILTCEHDVL
360 370 380 390 400
RDDGIMYAKR LESAGVEVTL DHFEDGFHGC MIFTSWPTNF SVGIRTRNSY

IKWLDQNL
Length:408
Mass (Da):45,808
Last modified:December 12, 2006 - v3
Checksum:iE5754850BE9805B5
GO
Isoform 2 (identifier: Q6PIU2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     123-123: K → SASWSPSDE

Show »
Length:416
Mass (Da):46,627
Checksum:iA315923F59D660E7
GO
Isoform 3 (identifier: Q6PIU2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-133: Missing.

Show »
Length:275
Mass (Da):31,168
Checksum:i1D5212243D62F48B
GO

Sequence cautioni

The sequence AAH28734 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH47588 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AC007919 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AC069237 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAA92601 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAH13028 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAH14142 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAH14802 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti16A → T in BAA92601 (PubMed:10718198).Curated1
Sequence conflicti58H → R in BAH13028 (PubMed:14702039).Curated1
Sequence conflicti72K → R in BAH14802 (PubMed:14702039).Curated1
Sequence conflicti79Q → K in AAH47588 (PubMed:15489334).Curated1
Sequence conflicti254D → G in BAH14142 (PubMed:14702039).Curated1
Sequence conflicti329A → S in BAH14142 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04709919V → F.Corresponds to variant rs35316420dbSNPEnsembl.1
Natural variantiVAR_04710071K → Q.Corresponds to variant rs2302815dbSNPEnsembl.1
Natural variantiVAR_047101343L → M.1 PublicationCorresponds to variant rs17857335dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0375181 – 133Missing in isoform 3. 1 PublicationAdd BLAST133
Alternative sequenceiVSP_037519123K → SASWSPSDE in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037784 mRNA. Translation: BAA92601.1. Different initiation.
AK294811 mRNA. Translation: BAH11890.1.
AK295641 mRNA. Translation: BAH12137.1.
AK299422 mRNA. Translation: BAH13028.1. Different initiation.
AK304253 mRNA. Translation: BAH14142.1. Different initiation.
AK316431 mRNA. Translation: BAH14802.1. Different initiation.
AC007919 Genomic DNA. No translation available.
AC069237 Genomic DNA. No translation available.
BC028734 mRNA. Translation: AAH28734.2. Different initiation.
BC047588 mRNA. Translation: AAH47588.2. Different initiation.
CCDSiCCDS54681.1. [Q6PIU2-3]
RefSeqiNP_001139748.1. NM_001146276.1.
NP_001139749.1. NM_001146277.1. [Q6PIU2-3]
NP_001139750.1. NM_001146278.1. [Q6PIU2-3]
NP_065843.3. NM_020792.4.
UniGeneiHs.444099.

Genome annotation databases

EnsembliENST00000543711; ENSP00000443227; ENSG00000144959. [Q6PIU2-3]
GeneIDi57552.
KEGGihsa:57552.
UCSCiuc003fig.4. human. [Q6PIU2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037784 mRNA. Translation: BAA92601.1. Different initiation.
AK294811 mRNA. Translation: BAH11890.1.
AK295641 mRNA. Translation: BAH12137.1.
AK299422 mRNA. Translation: BAH13028.1. Different initiation.
AK304253 mRNA. Translation: BAH14142.1. Different initiation.
AK316431 mRNA. Translation: BAH14802.1. Different initiation.
AC007919 Genomic DNA. No translation available.
AC069237 Genomic DNA. No translation available.
BC028734 mRNA. Translation: AAH28734.2. Different initiation.
BC047588 mRNA. Translation: AAH47588.2. Different initiation.
CCDSiCCDS54681.1. [Q6PIU2-3]
RefSeqiNP_001139748.1. NM_001146276.1.
NP_001139749.1. NM_001146277.1. [Q6PIU2-3]
NP_001139750.1. NM_001146278.1. [Q6PIU2-3]
NP_065843.3. NM_020792.4.
UniGeneiHs.444099.

3D structure databases

ProteinModelPortaliQ6PIU2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121608. 37 interactors.
IntActiQ6PIU2. 9 interactors.
STRINGi9606.ENSP00000442464.

Chemistry databases

BindingDBiQ6PIU2.
ChEMBLiCHEMBL5048.
SwissLipidsiSLP:000000634.

Protein family/group databases

ESTHERihuman-NCEH1. Hormone-sensitive_lipase_like_1.
MEROPSiS09.992.

PTM databases

iPTMnetiQ6PIU2.
PhosphoSitePlusiQ6PIU2.
SwissPalmiQ6PIU2.

Polymorphism and mutation databases

BioMutaiNCEH1.
DMDMi74737782.

Proteomic databases

EPDiQ6PIU2.
MaxQBiQ6PIU2.
PaxDbiQ6PIU2.
PeptideAtlasiQ6PIU2.
PRIDEiQ6PIU2.

Protocols and materials databases

DNASUi57552.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000543711; ENSP00000443227; ENSG00000144959. [Q6PIU2-3]
GeneIDi57552.
KEGGihsa:57552.
UCSCiuc003fig.4. human. [Q6PIU2-1]

Organism-specific databases

CTDi57552.
DisGeNETi57552.
GeneCardsiNCEH1.
H-InvDBHIX0003864.
HIX0163448.
HGNCiHGNC:29260. NCEH1.
HPAiHPA026888.
MIMi613234. gene.
neXtProtiNX_Q6PIU2.
OpenTargetsiENSG00000144959.
PharmGKBiPA165697847.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1515. Eukaryota.
COG0657. LUCA.
GeneTreeiENSGT00550000074556.
HOVERGENiHBG058974.
InParanoidiQ6PIU2.
KOiK14349.
PhylomeDBiQ6PIU2.

Enzyme and pathway databases

BRENDAi3.1.1.13. 2681.
ReactomeiR-HSA-171052. LDL-mediated lipid transport.

Miscellaneous databases

ChiTaRSiNCEH1. human.
GeneWikiiNCEH1.
GenomeRNAii57552.
PROiQ6PIU2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144959.
CleanExiHS_AADACL1.
ExpressionAtlasiQ6PIU2. baseline and differential.
GenevisibleiQ6PIU2. HS.

Family and domain databases

Gene3Di3.40.50.1820. 2 hits.
InterProiIPR029058. AB_hydrolase.
IPR013094. AB_hydrolase_3.
IPR017157. Arylacetamide_deacetylase.
IPR033140. Lipase_GDXG_put_SER_AS.
[Graphical view]
PfamiPF07859. Abhydrolase_3. 2 hits.
[Graphical view]
PIRSFiPIRSF037251. Arylacetamide_deacetylase. 1 hit.
SUPFAMiSSF53474. SSF53474. 1 hit.
PROSITEiPS01174. LIPASE_GDXG_SER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNCEH1_HUMAN
AccessioniPrimary (citable) accession number: Q6PIU2
Secondary accession number(s): B7Z2K4
, B7Z3A1, B7Z5U2, B7Z906, B7ZAW6, F5H7K4, Q86WZ1, Q9P2I4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: December 12, 2006
Last modified: November 30, 2016
This is version 117 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.