Mbd1 MGI Mouse Gene Detail - MGI:1333811 - methyl-CpG binding domain protein 1

Symbol

Mbd1
Name

methyl-CpG binding domain protein 1
Synonyms

Cxxc3, PCM1

Feature Type

protein coding gene
IDs

MGI:1333811
NCBI Gene: 17190
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr18:74400676-74415803 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 50.70 cM
Mapping Data

4 experiments

SNPs within 2kb

297 from dbSNP Build 142
Strain Annotations

17
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1333811	protein coding gene	Chr18:74400676-74415808 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024556	protein coding gene	Chr18:74886062-74901071 (+)
A/J	MGP_AJ_G0024523	protein coding gene	Chr18:71626684-71641725 (+)
AKR/J	MGP_AKRJ_G0024494	protein coding gene	Chr18:73744277-73758739 (+)
BALB/cJ	MGP_BALBcJ_G0024523	protein coding gene	Chr18:71807453-71821980 (+)
C3H/HeJ	MGP_C3HHeJ_G0024291	protein coding gene	Chr18:73837905-73852345 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024969	protein coding gene	Chr18:76854183-76868596 (+)
CAROLI/EiJ	no annotation
CAST/EiJ	MGP_CASTEiJ_G0023764	protein coding gene	Chr18:74012569-74027546 (+)
CBA/J	MGP_CBAJ_G0024260	protein coding gene	Chr18:79479631-79494062 (+)
DBA/2J	MGP_DBA2J_G0024390	protein coding gene	Chr18:71230173-71244676 (+)
FVB/NJ	MGP_FVBNJ_G0024356	protein coding gene	Chr18:70569819-70584259 (+)
LP/J	MGP_LPJ_G0024474	protein coding gene	Chr18:74754777-74769308 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024386	protein coding gene	Chr18:80934911-80949961 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025017	protein coding gene	Chr18:73877320-73892353 (+)
PWK/PhJ	MGP_PWKPhJ_G0023508	protein coding gene	Chr18:71583574-71598567 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023304	protein coding gene	Chr18:73342429-73363021 (-)
WSB/EiJ	MGP_WSBEiJ_G0023827	protein coding gene	Chr18:73829546-73844657 (+)

Human Ortholog

MBD1, methyl-CpG binding domain protein 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MBD1, methyl-CpG binding domain protein 1
Synonyms

CXXC3, PCM1, RFT
Links

HGNC:6916

NCBI Gene ID: 4152

neXtProt AC: NX_Q9UIS9

UniProt: Q9UIS9
Chr Location

18q21.1; chr18:50266882-50281774 (-) GRCh38

MGI Vertebrate Homology

Mbd1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: MBD1
Gene Tree

Mbd1

Diseases

1 with human MBD1 associations

				Human Disease	Mouse Models
				lung cancer IDs lung cancer DOID:1324 DOID:13075 DOID:1322 DOID:9881 ICD10CM:C34.1 ICD10CM:C34.2 ICD10CM:C34.3 ICD9CM:162.3 ICD9CM:162.4 ICD9CM:162.5 ICD9CM:162.8 OMIM:211980 OMIM:608935 OMIM:612571 OMIM:612593 OMIM:614210 UMLS_CUI:C0024624 UMLS_CUI:C0153491 UMLS_CUI:C0153492 UMLS_CUI:C0153493

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

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Phenotype Summary

14 phenotypes from 2 alleles in 2 genetic backgrounds
19 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

9
Endonuclease-mediated

2
Gene trapped

1
Targeted

5
Transposon induced

1
Genomic Mutations

1 involving Mbd1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

33 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null exhibited defects in adult hippocampal neurogenesis and function. Spatial learning was also impaired in mutant mice.

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All GO Annotations

25
GO References

10

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

816
Tissues

84
cDNA Data

95
Literature Summary

10

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mbd1

ZFIN mbd1b

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All Sequences

77
RefSeq

24
UniProt

6
CCDS

CCDS50321.1, CCDS89280.1

Ensembl

ENSMUSG00000024561 (Evidence)
NCBI Gene

17190

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024561	Ensembl Gene Model \| MGI Sequence Detail	15128	C57BL/6J	± kb
transcript	ENSMUST00000224047	Ensembl \| MGI Sequence Detail	2838	Not Applicable
polypeptide	ENSMUSP00000153428	Ensembl \| MGI Sequence Detail	644	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000010214 methyl-CpG-binding domain protein 1

(term hierarchy)
InterPro Domains

IPR016177 DNA-binding domain superfamily

IPR001739 Methyl-CpG DNA binding

IPR002857 Zinc finger, CXXC-type

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All nucleic 100

cDNA 95

Primer pair 5

Microarray probesets 6

Summaries

All 68

Developmental Gene Expression 10

Gene Ontology 10

Phenotypes 19
Earliest

J:50520 Hendrich B, et al., Identification and characterization of a family of mammalian methyl-CpG binding proteins. Mol Cell Biol. 1998 Nov;18(11):6538-47
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Mbd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr151905	Chr18:74401250-74401279 (+)	589 bp
Tssr151906	Chr18:74401283-74401298 (+)	615 bp
Tssr151907	Chr18:74401302-74401317 (+)	634 bp
Tssr151908	Chr18:74401322-74401408 (+)	689 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24