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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MBD1 Gene

protein-coding GIFtS: 60
GCID: GC18M047795

methyl-CpG binding domain protein 1

Explore 22 diseases affiliated with
MBD1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Methyl-CpG Binding Domain Protein 1¹ ²		RFT²
PCM1¹ ² ³ ⁵		Methyl-CpG Binding Domain Protein 1 Isoform PCM1²
CXXC3¹ ² ³		Methyl-CpG-Binding Domain Protein 1²
Protein Containing Methyl-CpG-Binding Domain 1² ³		The Regulator Of Fibroblast Growth Factor 2 (FGF-2) Transcription²
CXXC-Type Zinc Finger Protein 3² ³		Methyl-CpG-Binding Protein MBD1³

External Ids:	HGNC: 6916¹	Entrez Gene: 4152²	Ensembl: ENSG00000141644⁷	OMIM: 156535⁵	UniProtKB: Q9UIS9³

Export aliases for MBD1 gene to outside databases

Previous GC identifers: GC18M047893 GC18M047594 GC18M046047 GC18M046049 GC18M044649

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MBD1:

The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG

binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also

repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus

that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains

that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus

that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript

variants encoding different isoforms have been noted for this gene.(provided by RefSeq, Feb 2011)

UniProtKB/Swiss-Prot: MBD1_HUMAN, Q9UIS9

Function: Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of

cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by

methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting

AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with

SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Isoform

1 and isoform 2 can also repress transcription from unmethylated promoters

Gene Wiki entry for MBD1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000018.9 NC_018929.1 NT_010966.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MBD1 gene promoter:
STAT1 p53 STAT1alpha
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for MBD1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBD1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21 Ensembl cytogenetic band: 18q21.1 HGNC cytogenetic band: 18q21

MBD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBD1 gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18M047795: view genomic region (about GC identifiers)

Start:	47,793,252 bp from pter	End:	47,808,144 bp from pter
Size:	14,893 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MBD1_HUMAN, Q9UIS9 (See protein sequence)

Recommended Name: Methyl-CpG-binding domain protein 1

Size: 605 amino acids; 66607 Da

Subunit: Interacts with the Ten-1 ICD form of TENM1 (By similarity). Interacts with OASL, AFT7IP, AFT7IP2 and BAHD1.

Binds CHAF1A and the SUV39H1-CBX5 complex via the MBD domain. Binds MGP via the TRD domain. May be part of the MeCP1

complex. During DNA replication, it recruits SETDB1 to form a S phase-specific complex that facilitates methylation of

H3 'Lys-9' during replication-coupled chromatin assembly and is at least composed of the CAF-1 subunit CHAF1A, MBD1

and SETDB1

Subcellular location: Nucleus (By similarity). Nucleus matrix (By similarity). Nucleus speckle. Chromosome.

Note=Colocalizes with the Ten-1 ICD form of TENM1 in foci associated with the nuclear matrix (By similarity). Nuclear,

in a punctate pattern. Associated with euchromatic regions of the chromosomes, with pericentromeric regions on

chromosome 1 and with telomeric regions from several chromosomes

2 PDB 3D structures from and Proteopedia for MBD1:

1D9N (3D)

1IG4 (3D)

Secondary accessions: A4UTZ0 B4DXJ5 E9PEC5 O15248 O95241 Q7Z7B5 Q8N4W4 Q9UNZ6 Q9UNZ7 Q9UNZ8 Q9UNZ9

Alternative splicing: 8 isoforms: Q9UIS9-1 Q9UIS9-2 Q9UIS9-4 Q9UIS9-5 Q9UIS9-6 Q9UIS9-7 Q9UIS9-8 Q9UIS9-9

(Ref.3 (AAD51444) sequence is in conflict in position: 327:K->Q)

Explore the universe of human proteins at neXtProt for MBD1: NX_Q9UIS9

Post-translational modifications:

Sumoylated with SUMO1 by PIAS1 and PIAS3. Sumoylation affects transcriptional silencing by preventing the interaction

with SETDB1. In contrast, sumoylation may increase interaction with AFT7IP¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UIS9

MBD1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (14 alternative transcripts):

NP_001191065.1 NP_001191066.1 NP_001191067.1 NP_001191068.1 NP_001191069.1 NP_001191070.1 NP_001191071.1 NP_001191072.1

NP_001191080.1 NP_002375.1 NP_056669.2 NP_056670.2 NP_056671.2 NP_056723.2

ENSEMBL proteins:

ENSP00000466092 ENSP00000467606 ENSP00000372407 ENSP00000269469 ENSP00000467017

ENSP00000339546 ENSP00000468785 ENSP00000468042 ENSP00000467763 ENSP00000468430

ENSP00000466806 ENSP00000381508 ENSP00000405268 ENSP00000381506 ENSP00000381502

ENSP00000465923 ENSP00000466429 ENSP00000464823 ENSP00000269471 ENSP00000408846

ENSP00000269468 ENSP00000285102 ENSP00000409561 ENSP00000342531

Human Recombinant Protein Products:

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	Novus Biologicals MBD1 Proteins Novus Biologicals MBD1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MBD1

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000785	chromatin	--	--
GO:0000792	heterochromatin	IEA	--
GO:0005634	nucleus	NAS	10454587
GO:0005694	chromosome	--	--
GO:0005737	cytoplasm	IEA	--

MBD1 for ontologies About GeneDecksing

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MBD1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MBD1 for domains About GeneDecksing

3 InterPro domains/families:

IPR001739 Methyl_CpG_DNA-bd

IPR002857 Znf_CXXC

IPR016177 DNA-bd_integrase-typ

Graphical View of Domain Structure for InterPro Entry Q9UIS9

ProtoNet protein and cluster: Q9UIS9

1 Blocks protein family: IPB001739 Methyl-CpG binding

UniProtKB/Swiss-Prot: MBD1_HUMAN, Q9UIS9

Domain: The methyl-CpG-binding domain (MBD) functions both in binding to methylated DNA and in protein interactions

Domain: The third CXXC-type zinc finger mediates binding to non-methylated CpG dinucleotides

Domain: The transcriptional repression domain (TRD) is involved in transcription repression and in protein interactions

Similarity: Contains 3 CXXC-type zinc fingers

Similarity: Contains 1 MBD (methyl-CpG-binding) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MBD1_HUMAN, Q9UIS9

Function: Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of

cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by

methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting

AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with

SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Isoform

1 and isoform 2 can also repress transcription from unmethylated promoters

Induction: Up-regulated by interferon

Genatlas biochemistry entry for MBD1:

methyl-CpG binding domain protein 1,widely expressed,repressing transcription in a methylation dependent manner

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	TAS	9774669
GO:0003700	sequence-specific DNA binding transcription factor activity	TAS	10866667
GO:0003714	transcription corepressor activity	TAS	10866667
GO:0005515	protein binding	IPI	16432238
GO:0008270	zinc ion binding	IEA	--

MBD1 for ontologies About GeneDecksing

Animal Models:
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mbd1):

behavior/neurological

cellular

nervous system

MBD1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

SIDS Susceptibility Pathways

SIDS Susceptibility Pathways

1.00

1 BioSystems Pathway for MBD1

SIDS Susceptibility Pathways

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MBD1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/46 Interacting proteins for MBD1 (Q9UIS9^{1, 2, 3} ENSP00000269468⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H3A	P68431³, ENSP00000350275⁴	I2D: score=1 STRING: ENSP00000350275
HIST1H3B	P68431³	I2D: score=1
HIST1H3C	P68431³	I2D: score=1
HIST1H3D	P68431³	I2D: score=1
HIST1H3E	P68431³	I2D: score=1

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006366	transcription from RNA polymerase II promoter	TAS	9774669
GO:0045892	negative regulation of transcription, DNA-dependent	NAS	10454587

MBD1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MBD1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MBD1

1 HMDB Compound for MBD1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Cytosine	4-Amino-2(1H)-pyrimidinone (see all 6)	71-30-7	--

1 Novoseek chemical compound relationship for MBD1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
5-aza-2'deoxycytidine	55.4	1	17428788 (1)

Search CenterWatch for drugs/clinical trials and news about MBD1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MBD1 gene (14 alternative transcripts):

NM_001204136.1 NM_001204137.1 NM_001204138.1 NM_001204139.1 NM_001204140.1 NM_001204141.1 NM_001204142.1 NM_001204143.1

NM_001204151.1 NM_002384.2 NM_015844.2 NM_015845.3 NM_015846.3 NM_015847.3

Unigene Cluster for MBD1:

Methyl-CpG binding domain protein 1

Hs.405610 [show with all ESTs]

Unigene Representative Sequence: NM_015846

18/30 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30):

ENST00000585672 ENST00000592060 ENST00000382948(uc002lef.3 uc002leg.3 uc010dow.2)

ENST00000353909 ENST00000591416 ENST00000339998(uc002leo.2) ENST00000590208

ENST00000587605 ENST00000588937 ENST00000585595 ENST00000589541 ENST00000398495(uc021ukd.1 uc021uke.1 uc010xdk.2)

ENST00000457839 ENST00000398493 ENST00000398488 ENST00000591535 ENST00000586884

ENST00000589733

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		hsa-miR-3934 hsa-miR-498 hsa-miR-125a-5p hsa-miR-125a-3p hsa-miR-15a hsa-miR-764 hsa-miR-508-3p hsa-miR-1184

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Additional cDNA sequence:

AB209765.1 AF072241.1 AF078830.1 AF078831.1 AF078832.1 AF078833.1 AJ564845.1 AK225889.1

AK225948.1 AK291519.1 AK295401.1 AK300759.1 AK302004.1 BC033242.1 BC047353.1 EF488685.1

Y10746.1

22 DOTS entries:

DT.95240088 DT.100654573 DT.95240079 DT.91766864 DT.100654578 DT.100654572 DT.446691 DT.121096844

DT.91962901 DT.100849752 DT.97821150 DT.102826334 DT.95240090 DT.91730035 DT.95136706 DT.95240087

DT.100715722 DT.91766867 DT.100697385 DT.86859393 DT.91766859 DT.121096857

24/319 AceView cDNA sequences (see all 319):

NM_002384 BQ923895 BQ960854 BM687662 CO248208 AI821051 AL701984 AA928493

AA463524 NM_015845 F03270 AA705947 AI970978 BQ949269 BI333544 CB141446

BM472650 CK000838 BP431805 AA463489 AW068976 BQ898991 AA132955 AF072241

GeneLoc Exon Structure

5/25 Alternative Splicing Database (ASD) splice patterns (SP) for MBD1 (see all 25) About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	^	4a	·	4b	·	4c	^	5a	·	5b	·	5c	^	6	^	7	^	8a	·	8b	·	8c	^	9	^	10	^	11a	·	11b	^	12a	·	12b	^	13a	·	13b	·	13c	^	14a	·
SP1:			-						-																		-								-										-		-		-
SP2:			-						-																		-		-		-				-
SP3:									-																		-								-
SP4:			-						-																		-								-
SP5:									-																		-								-						-		-

ExUns:	14b	·	14c	·	14d	^	15a	·	15b	·	15c	·	15d	^	16a	·	16b	^	17a	·	17b	^	18a	·	18b	·	18c	^	19a	·	19b	·	19c	·	19d	·	19e	·	19f	·	19g	·	19h	^	20a	·	20b
SP1:															-						-						-		-
SP2:															-						-						-		-
SP3:															-						-
SP4:							-		-		-		-		-				-		-		-		-		-
SP5:							-		-		-		-		-						-		-		-		-		-

ECgene alternative splicing isoforms for MBD1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MBD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See MBD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MBD1

SOURCE GeneReport for Unigene cluster: Hs.405610

UniProtKB/Swiss-Prot: MBD1_HUMAN, Q9UIS9

Tissue specificity: Widely expressed

SABiosciences Expression via Pathway-Focused PCR Arrays including MBD1:

TGFB Signaling Targets in human mouse rat

Epigenetic Chromatin Remodeling Factors in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MBD1 gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mbd1^{1 , 5}	methyl-CpG binding domain protein 1^{1, 5}	79.1(n)¹ 69.59(a)¹		18 (50.70 cM)⁵ 17190¹ NM_013594.2¹ NP_038622.2¹ 74268288⁵
lizard (Anolis carolinensis)	Reptilia	MBD1⁶	--	46(a)	1 ↔ 1	2(69202138-69229986)
African clawed frog (Xenopus laevis)	Amphibia	mbd1-prov²	methyl-CpG binding domain protein 1	74.13(n)		BC043835.1
zebrafish (Danio rerio)	Actinopterygii	mbd1⁶ CABZ01037693.1⁶	--	16(a) 14(a)	many → 1 many → 1	11(26493631-26509758) 8(8415022-8430594)

ENSEMBL Gene Tree for MBD1 (if available)
TreeFam Gene Tree for MBD1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for MBD1 gene

CXXC1²

MBD1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 18 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75549011^1,2		--	44647729(+)	`CCAAGA/GTATTT`	2	--	ut3¹		1	WA	118
rs75940161^1,2	F,	--	44647867(+)	`GAGTAT/CCTGGG`	2	--	ut3¹		1	WA	118
rs9959771^1,2	C,F,H,	--	44649518(+)	`GCCCCC/TGCGGC`	10	--	ds500¹ int¹		13	NS EA NA WA	1844
rs113160944^1,2		--	44650412(+)	`CCTTTC/TAGCTT`	10	--	ut3¹ int¹		1	CSA	2
rs72923678^1,2	C,F,	--	44650462(+)	`GAAGGG/ACACCA`	12	/C	ut3¹ syn¹ int¹		1	NA	3354
rs79159284^1,2	C,F,	--	44651620(+)	`TTCAAG/AGTCAC`	13	--	int¹ ds500¹		1	WA	118
rs75218400^1,2	F,	--	44651637(+)	`CTCCTG/ATTAGT`	13	--	int¹ ds500¹		1	EA	120
rs78239672^1,2	C,F,	--	44651702(+)	`GCTGGG/ATTTGA`	13	--	int¹ ds500¹		1	WA	118
rs116365506^1,2	C,F,	--	44652680(+)	`GGTGGG/ACTGGT`	14	--	int¹		1	WA	118
rs75655136^1,2		--	44652731(+)	`ACATCG/ACCAGT`	14	--	int¹		2	CSA WA	120

HapMap Linkage Disequilibrium report for MBD1 (47793252 - 47808144 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MBD1: --
Human Gene Mutation Database (HGMD): MBD1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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MBD1 for disorders           About GeneDecksing

OMIM gene information: 156535    OMIM disorders: --

20/22 diseases for MBD1 (see all 22):    About MalaCards

trigeminal neuralgia cutaneous lupus erythematosus lupus erythematosus autistic disorder

chronic lymphocytic leukemia rett syndrome lymphocytic leukemia leprosy

endometrial cancer cervical carcinoma colon carcinoma cervicitis

pancreatitis pancreatic carcinoma colon cancer lung carcinoma

carcinoma pancreatic cancer leukemia lung cancer

2 diseases from the University of Copenhagen DISEASES database for MBD1:

Trigeminal neuralgia Leprosy

3 Novoseek disease relationships for MBD1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cancer lung	18.2	8	18668384 (3), 16284366 (2), 12776203 (1)
cancer	6.67	4	12646234 (2)
tumors	4.17	8	19062732 (4), 11836615 (1), 10454587 (1), 18445260 (1)

Genetic Association Database (GAD): MBD1
Human Genome Epidemiology (HuGE) Navigator: MBD1 (5 documents)

Export disorders for MBD1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MBD1 gene, integrated from 9 sources (see all 101):
(articles sorted by number of sources associating them with MBD1)

Utopia: connect your pdf to the dynamic
world of online information

Genomic structure and chromosomal mapping of the murine and human mbd1, mbd2, mbd3, and mbd4 genes. (PubMed id 10441743)^{1, 2, 3, 9} Hendrich B.... Bird A. (1999)
A component of the transcriptional repressor MeCP1 shares a motif with DNA methyltransferase and HRX proteins. (PubMed id 9207790)^{1, 2, 3} Cross S.H.... Bird A. (1997)
Methylation-mediated transcriptional silencing in euchromatin by methyl-CpG binding protein MBD1 isoforms. (PubMed id 10454587)^{1, 2, 9} Fujita N....Nakao M. (1999)
Methylated DNA-binding domain 1 and methylpurine-DNA glycosylase link transcriptional repression and DNA repair in chromatin. (PubMed id 14555760)^{1, 2, 9} Watanabe S.... Nakao M. (2003)
Methyl-CpG binding domain 1 (MBD1) interacts with the Suv39h1-HP1 heterochromatic complex for DNA methylation-based transcriptional repression. (PubMed id 12711603)^{1, 2, 9} Fujita N.... Nakao M. (2003)
Transcriptional repression and heterochromatin formation by MBD1 and MCAF/AM family proteins. (PubMed id 15691849)^{1, 2, 9} Ichimura T.... Nakao M. (2005)
Interaction between the 2'-5' oligoadenylate synthetase-like protein p59 OASL and the transcriptional repressor methyl CpG-binding protein 1. (PubMed id 14728690)^{1, 2, 9} Andersen J.B.... Justesen J. (2004)
Active repression of methylated genes by the chromosomal protein MBD1. (PubMed id 10648624)^{1, 2, 9} Ng H.-H.... Bird A. (2000)
Regulation of MBD1-mediated transcriptional repression by SUMO and PIAS proteins. (PubMed id 17066076)^{1, 2, 9} Lyst M.J.... Stancheva I. (2006)
Methyl-CpG binding domain 1 gene polymorphisms and risk of primary lung cancer. (PubMed id 16284366)^{1, 4, 9} Jang J.S....Park J.Y. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4152	HGNC: 6916	AceView: MBD1	Ensembl:ENSG00000141644	euGenes: HUgn4152
ECgene: MBD1	H-InvDB: MBD1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MBD1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MBD1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for MBD1 gene
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Patent Information for MBD1 gene:
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GeneCards and IP:
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methyl-CpG binding domain protein 1

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methyl-CpG binding domain protein 1

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