Bche MGI Mouse Gene Detail - MGI:894278

Symbol

Bche
Name

butyrylcholinesterase
Synonyms

C730038G20Rik

Feature Type

protein coding gene
IDs

MGI:894278
NCBI Gene: 12038
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr3:73543141-73615748 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 33.61 cM, cytoband E3
Mapping Data

2 experiments

SNPs within 2kb

2444 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_894278	protein coding gene	Chr3:73543138-73615767 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0027302	protein coding gene	Chr3:73046988-73128173 (-)
A/J	MGP_AJ_G0027264	protein coding gene	Chr3:70822779-70897843 (-)
AKR/J	MGP_AKRJ_G0027232	protein coding gene	Chr3:72420011-72495877 (-)
BALB/cJ	MGP_BALBcJ_G0027275	protein coding gene	Chr3:70768077-70844374 (-)
C3H/HeJ	MGP_C3HHeJ_G0027019	protein coding gene	Chr3:72688598-72767533 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0027721	protein coding gene	Chr3:75959815-76042481 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025074	protein coding gene	Chr3:66797266-66873376 (-)
CAST/EiJ	MGP_CASTEiJ_G0026466	protein coding gene	Chr3:72629624-72715508 (-)
CBA/J	MGP_CBAJ_G0026994	protein coding gene	Chr3:78281694-78358936 (-)
DBA/2J	MGP_DBA2J_G0027130	protein coding gene	Chr3:70346786-70420789 (-)
FVB/NJ	MGP_FVBNJ_G0027098	protein coding gene	Chr3:68825330-68895514 (-)
LP/J	MGP_LPJ_G0027238	protein coding gene	Chr3:74034146-74119733 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027117	protein coding gene	Chr3:83738063-83842375 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027779	protein coding gene	Chr3:72198995-72274133 (-)
PWK/PhJ	MGP_PWKPhJ_G0026200	protein coding gene	Chr3:70098849-70168800 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0026016	protein coding gene	Chr3:71367577-71449838 (-)
WSB/EiJ	MGP_WSBEiJ_G0026544	protein coding gene	Chr3:72452807-72535879 (-)

Human Ortholog

BCHE, butyrylcholinesterase

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BCHE, butyrylcholinesterase
Synonyms

BCHED, CHE1, CHE2, E1
Links

HGNC:983

NCBI Gene ID: 590

neXtProt AC: NX_P06276

UniProt: P06276
Chr Location

3q26.1; chr3:165772904-165837462 (-) GRCh38

MGI Vertebrate Homology

Bche stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: BCHE
Gene Tree

Bche

Diseases

7 with human BCHE associations

				Human Disease	Mouse Models
				Alzheimer's disease IDs Alzheimer's disease DOID:10652 ICD10CM:G30 ICD9CM:331.0 KEGG:05010 MESH:D000544 NCI:C2866 UMLS_CUI:C0002395
				coronary artery disease IDs coronary artery disease DOID:3393 DOID:10506 DOID:3363 DOID:3394 DOID:9420 EFO:0001645 ICD10CM:I20-I25 ICD10CM:I25 ICD10CM:I25.10 ICD9CM:410-414.99 ICD9CM:414.0 ICD9CM:414.9 MESH:D003324 MESH:D003327 MESH:D017202 NCI:C35505 NCI:C50625 OMIM:300464 OMIM:607339 OMIM:608316 OMIM:608318 OMIM:608320 OMIM:610947 OMIM:611139 OMIM:612030 OMIM:614293 UMLS_CUI:C0010054 UMLS_CUI:C0010068 UMLS_CUI:C0151744 UMLS_CUI:C0264694
				coronary restenosis IDs coronary restenosis DOID:4247 MESH:D023903 UMLS_CUI:C0948480
				epilepsy IDs epilepsy DOID:1826 EFO:0000474 ICD10CM:G40 ICD9CM:345.9 MESH:D004827 NCI:C3020 UMLS_CUI:C0014544
				inherited metabolic disorder IDs inherited metabolic disorder DOID:655 MESH:D008661 NCI:C34816 UMLS_CUI:C0025521
				type 1 diabetes mellitus IDs type 1 diabetes mellitus DOID:9744 ICD10CM:E10 KEGG:04940 MESH:D003922 NCI:C2986 OMIM:222100 UMLS_CUI:C0011854
				type 2 diabetes mellitus IDs type 2 diabetes mellitus DOID:9352 ICD10CM:E11 KEGG:04930 MESH:D003924 NCI:C26747 OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036 UMLS_CUI:C0011860

Click on a disease name to see all genes associated with that disease.

References

1 with disease annotations

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
24 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

12
Chemically induced (other)

1
Endonuclease-mediated

6
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Bche
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

33 strains or lines available

Mice homozygous for a targeted null mutation do not exhibit any overt abnormalities.

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All GO Annotations

38
GO References

7

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

807
Tissues

99
cDNA Data

8
Literature Summary

6

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase bche, bchel

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All Sequences

41
RefSeq

4
UniProt

3
CCDS

CCDS17411.1

Ensembl

ENSMUSG00000027792 (Evidence)
NCBI Gene

12038

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027792	Ensembl Gene Model \| MGI Sequence Detail	72608	C57BL/6J	± kb
transcript	ENSMUST00000029367	Ensembl \| MGI Sequence Detail	6210	Not Applicable
polypeptide	ENSMUSP00000029367	Ensembl \| MGI Sequence Detail	603	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000004685 cholinesterase

(term hierarchy)
EC

3.1.1.-, 3.1.1.8
InterPro Domains

IPR050654 Acetylcholinesterase-related enzymes

IPR014788 Acetylcholinesterase, tetramerisation domain

IPR029058 Alpha/Beta hydrolase fold

IPR002018 Carboxylesterase, type B

IPR019826 Carboxylesterase type B, active site

IPR019819 Carboxylesterase type B, conserved site

IPR000997 Cholinesterase
GlyGen

Q03311 8 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (1 site)

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All nucleic 10

Genomic 1

cDNA 8

Primer pair 1

Microarray probesets 5

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MGI:2445138

Summaries

All 56

Developmental Gene Expression 6

Diseases 1

Gene Ontology 7

Phenotypes 24
Earliest

J:41300 Rachinsky TL, et al., Molecular cloning of mouse acetylcholinesterase: tissue distribution of alternatively spliced mRNA species. Neuron. 1990 Sep;5(3):317-27
Latest

J:330215 Veerakumar A, et al., Molecularly defined circuits for cardiovascular and cardiopulmonary control. Nature. 2022 Jun;606(7915):739-746

TSS for Bche:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr33576	Chr3:73615732-73615756 (-)	4 bp
Tssr33575	Chr3:73615701-73615717 (-)	39 bp
Tssr906	Chr3:73615693-73615696 (-)	53 bp
Tssr33574	Chr3:73615660-73615671 (-)	82 bp
Tssr33573	Chr3:73615535-73615610 (-)	175 bp
Tssr33572	Chr3:73613992-73614003 (-)	1,750 bp
Tssr33571	Chr3:73544027-73544040 (-)	71,714 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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