Nceh1 MGI Mouse Gene Detail - MGI:2443191 - neutral cholesterol ester hydrolase 1

Symbol

Nceh1
Name

neutral cholesterol ester hydrolase 1
Synonyms

Aadacl1, B230106I24Rik, CPO-BP, mKIAA1363

Feature Type

protein coding gene
IDs

MGI:2443191
NCBI Gene: 320024
Alliance

gene page
Transcription Start Sites

22 TSS

Sequence Map

Chr3:27237153-27299112 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 10.82 cM
Mapping Data

1 experiment

SNPs within 2kb

1768 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2443191	protein coding gene	Chr3:27237114-27338757 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027109	protein coding gene	Chr3:24492242-24598950 (+)
A/J	MGP_AJ_G0027069	protein coding gene	Chr3:24311171-24411502 (+)
AKR/J	MGP_AKRJ_G0027038	protein coding gene	Chr3:24609810-24711022 (+)
BALB/cJ	MGP_BALBcJ_G0027081	protein coding gene	Chr3:23994862-24094709 (+)
C3H/HeJ	MGP_C3HHeJ_G0026822	protein coding gene	Chr3:24656746-24770089 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027526	protein coding gene	Chr3:25852254-25978738 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024888	protein coding gene	Chr3:22332295-22394801 (+)
CAST/EiJ	MGP_CASTEiJ_G0026277	protein coding gene	Chr3:24489773-24593336 (+)
CBA/J	MGP_CBAJ_G0026800	protein coding gene	Chr3:26527254-26636028 (+)
DBA/2J	MGP_DBA2J_G0026934	protein coding gene	Chr3:23867884-23968036 (+)
FVB/NJ	MGP_FVBNJ_G0026902	protein coding gene	Chr3:23343932-23443098 (+)
LP/J	MGP_LPJ_G0027046	protein coding gene	Chr3:25169960-25275329 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026923	protein coding gene	Chr3:29120978-29224073 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027586	protein coding gene	Chr3:24336119-24437624 (+)
PWK/PhJ	MGP_PWKPhJ_G0026010	protein coding gene	Chr3:23323108-23426224 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025820	protein coding gene	Chr3:23894007-23951638 (+)
WSB/EiJ	MGP_WSBEiJ_G0026350	protein coding gene	Chr3:24381001-24487867 (+)

Human Ortholog

NCEH1, neutral cholesterol ester hydrolase 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NCEH1, neutral cholesterol ester hydrolase 1
Synonyms

AADACL1, NCEH
Links

HGNC:29260

NCBI Gene ID: 57552

neXtProt AC: NX_Q6PIU2

UniProt: Q6PIU2
Chr Location

3q26.31; chr3:172630249-172711218 (-) GRCh38

MGI Vertebrate Homology

Nceh1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: NCEH1
Protein SuperFamily

Arylacetamide_deacetylase
Gene Tree

Nceh1

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References

1 with disease annotations

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Phenotype Summary

4 phenotypes from 2 alleles in 2 genetic backgrounds
6 phenotypes from multigenic genotypes
16 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

16
Endonuclease-mediated

4
Gene trapped

9
Radiation induced

1
Targeted

2
Genomic Mutations

1 involving Nceh1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

35 strains or lines available

Mice homozygous for a knock-out allele exhibit abnormal organophosphorus metabolism and cholesterol homeostasis.

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All GO Annotations

11
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

851
Tissues

20
cDNA Data

12
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nceh1

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All Sequences

54
RefSeq

4
UniProt

4
CCDS

CCDS17271.1

Ensembl

ENSMUSG00000027698 (Evidence)
NCBI Gene

320024

			Length	Strain/Species	Flank
genomic	320024	NCBI Gene Model \| MGI Sequence Detail	61960	C57BL/6J	± kb
transcript	NM_178772	RefSeq \| MGI Sequence Detail	4441	C57BL/6
polypeptide	Q8BLF1	UniProt \| EBI \| MGI Sequence Detail	408	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000003521 neutral cholesterol ester hydrolase 1

(term hierarchy)
EC

3.1.1.-, 3.1.1.71
InterPro Domains

IPR029058 Alpha/Beta hydrolase fold

IPR013094 Alpha/beta hydrolase fold-3

IPR017157 Arylacetamide deacetylase

IPR050300 'GDXG' lipolytic enzyme

IPR033140 Lipase, GDXG, putative serine active site
GlyGen

Q8BLF1 4 sites, 8 N-linked glycans (3 sites), 1 O-linked glycan (1 site)

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All nucleic 12

cDNA 12

Microarray probesets 7

Summaries

All 40

Developmental Gene Expression 2

Diseases 1

Gene Ontology 6

Phenotypes 16
Earliest

J:70677 Cook SA, et al., Mouse paracentric inversion In(3)55Rk mutates the urate oxidase gene. Cytogenet Cell Genet. 2001;93(1-2):77-82
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Nceh1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr28603	Chr3:27237122-27237135 (+)	-24 bp
Tssr28604	Chr3:27237143-27237166 (+)	2 bp
Tssr28605	Chr3:27237889-27237894 (+)	739 bp
Tssr28606	Chr3:27237919-27237953 (+)	783 bp
Tssr28607	Chr3:27242525-27242558 (+)	5,389 bp
Tssr28608	Chr3:27242562-27242590 (+)	5,423 bp
Tssr28609	Chr3:27242596-27242607 (+)	5,449 bp
Tssr28610	Chr3:27246281-27246295 (+)	9,135 bp
Tssr28611	Chr3:27248409-27248415 (+)	11,259 bp
Tssr28612	Chr3:27248514-27248522 (+)	11,365 bp
Tssr28613	Chr3:27248843-27248848 (+)	11,693 bp
Tssr28614	Chr3:27264613-27264628 (+)	27,468 bp
Tssr28615	Chr3:27275286-27275290 (+)	38,135 bp
Tssr845	Chr3:27276441-27276447 (+)	39,291 bp
Tssr28616	Chr3:27281439-27281451 (+)	44,292 bp
Tssr28617	Chr3:27285651-27285671 (+)	48,508 bp
Tssr28618	Chr3:27285686-27285703 (+)	48,542 bp
Tssr28619	Chr3:27295570-27295581 (+)	58,423 bp
Tssr28620	Chr3:27295696-27295713 (+)	58,552 bp
Tssr28621	Chr3:27295726-27295764 (+)	58,592 bp
Tssr28622	Chr3:27295769-27295814 (+)	58,639 bp
Tssr28623	Chr3:27296932-27296943 (+)	59,785 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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