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Aliases for MBD1 Gene

Aliases for MBD1 Gene

  • Methyl-CpG Binding Domain Protein 1 2 3 5
  • Protein Containing Methyl-CpG-Binding Domain 1 3 4
  • CXXC-Type Zinc Finger Protein 3 3 4
  • CXXC3 3 4
  • PCM1 3 4
  • The Regulator Of Fibroblast Growth Factor 2 (FGF-2) Transcription 3
  • Methyl-CpG Binding Domain Protein 1 Isoform PCM1 3
  • Methyl-CpG-Binding Domain Protein 1 3
  • Methyl-CpG-Binding Protein MBD1 4
  • RFT 3

External Ids for MBD1 Gene

Previous GeneCards Identifiers for MBD1 Gene

  • GC18M047893
  • GC18M047594
  • GC18M046047
  • GC18M046049
  • GC18M047795
  • GC18M044649

Summaries for MBD1 Gene

Entrez Gene Summary for MBD1 Gene

  • 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]

GeneCards Summary for MBD1 Gene

MBD1 (Methyl-CpG Binding Domain Protein 1) is a Protein Coding gene. Diseases associated with MBD1 include Trigeminal Nerve Disease and Trigeminal Neuralgia. Among its related pathways are SIDS Susceptibility Pathways. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and methyl-CpG binding.

UniProtKB/Swiss-Prot for MBD1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBD1 Gene

Genomics for MBD1 Gene

Regulatory Elements for MBD1 Gene

Enhancers for MBD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18F050315 0.7 ENCODE 12 -33.7 -33661 0.8 HDGF PKNOX1 ATF1 TBL1XR1 BMI1 RELA EED ZNF143 CREM MAZ CXXC1 MBD1 SKA1 ENSG00000274930 ENSG00000267695
GH18F050355 1.1 Ensembl ENCODE 11.7 -75.0 -75029 1.6 HDGF PKNOX1 TBL1XR1 WRNIP1 KLF17 ARID4B ZNF2 RAD21 RFX5 ZNF121 CXXC1 MBD1 LOC105372114 RNA5SP458
GH18F050259 0.4 FANTOM5 11.2 +22.0 22006 0.4 MBD1 CXXC1 ENSG00000277310 CFAP53
GH18F050306 1.4 FANTOM5 Ensembl ENCODE 3.2 -26.3 -26294 2.3 ZNF133 ARID4B SIN3A BMI1 RFX5 YY1 SP3 NFYC MXD4 CEBPB CFAP53 SKA1 MBD1 ENSG00000267695 ENSG00000274930
GH18F050099 1.5 FANTOM5 Ensembl ENCODE 3 +181.7 181651 1.4 PKNOX1 FEZF1 ZNF366 NFYB EED ETV6 FOS CREM ZNF639 MTA2 MYO5B MBD1 ENSG00000267591 MIR4320
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MBD1 on UCSC Golden Path with GeneCards custom track

Promoters for MBD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001515165 474 2201 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF302

Genomic Location for MBD1 Gene

Chromosome:
18
Start:
50,266,623 bp from pter
End:
50,281,774 bp from pter
Size:
15,152 bases
Orientation:
Minus strand

Genomic View for MBD1 Gene

Genes around MBD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBD1 Gene

Proteins for MBD1 Gene

  • Protein details for MBD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIS9-MBD1_HUMAN
    Recommended name:
    Methyl-CpG-binding domain protein 1
    Protein Accession:
    Q9UIS9
    Secondary Accessions:
    • A4UTZ0
    • B4DXJ5
    • E9PEC5
    • K7ELI2
    • K7EQZ4
    • K7ESN0
    • O15248
    • O95241
    • Q7Z7B5
    • Q8N4W4
    • Q9UNZ6
    • Q9UNZ7
    • Q9UNZ8
    • Q9UNZ9

    Protein attributes for MBD1 Gene

    Size:
    605 amino acids
    Molecular mass:
    66607 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for MBD1 Gene

    Alternative splice isoforms for MBD1 Gene

neXtProt entry for MBD1 Gene

Post-translational modifications for MBD1 Gene

  • Sumoylated with SUMO1 by PIAS1 and PIAS3. Sumoylation affects transcriptional silencing by preventing the interaction with SETDB1. In contrast, sumoylation may increase interaction with AFT7IP.
  • Ubiquitination at Lys 422
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MBD1 Gene

Domains & Families for MBD1 Gene

Protein Domains for MBD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UIS9

UniProtKB/Swiss-Prot:

MBD1_HUMAN :
  • The methyl-CpG-binding domain (MBD) functions both in binding to methylated DNA and in protein interactions.
  • Contains 3 CXXC-type zinc fingers.
Domain:
  • The methyl-CpG-binding domain (MBD) functions both in binding to methylated DNA and in protein interactions.
  • The third CXXC-type zinc finger mediates binding to non-methylated CpG dinucleotides.
  • The transcriptional repression domain (TRD) is involved in transcription repression and in protein interactions.
  • Contains 1 MBD (methyl-CpG-binding) domain.
Similarity:
  • Contains 3 CXXC-type zinc fingers.
genes like me logo Genes that share domains with MBD1: view

Function for MBD1 Gene

Molecular function for MBD1 Gene

GENATLAS Biochemistry:
methyl-CpG binding domain protein 1,widely expressed,repressing transcription in a methylation dependent manner
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Up-regulated by interferon.

Gene Ontology (GO) - Molecular Function for MBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 9774669
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 12665582
GO:0008270 zinc ion binding IEA --
GO:0008327 methyl-CpG binding NAS 10454587
genes like me logo Genes that share ontologies with MBD1: view
genes like me logo Genes that share phenotypes with MBD1: view

Animal Models for MBD1 Gene

MGI Knock Outs for MBD1:

Animal Model Products

Clone Products

  • Addgene plasmids for MBD1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MBD1 Gene

Localization for MBD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBD1 Gene

Nucleus. Nucleus matrix. 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. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MBD1 Gene COMPARTMENTS Subcellular localization image for MBD1 gene
Compartment Confidence
nucleus 5
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for MBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA --
GO:0005634 nucleus NAS 10454587
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
GO:0016363 nuclear matrix ISS --
genes like me logo Genes that share ontologies with MBD1: view

Pathways & Interactions for MBD1 Gene

SuperPathways for MBD1 Gene

SuperPathway Contained pathways
1 SIDS Susceptibility Pathways
genes like me logo Genes that share pathways with MBD1: view

Pathways by source for MBD1 Gene

1 BioSystems pathway for MBD1 Gene

Gene Ontology (GO) - Biological Process for MBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0006346 methylation-dependent chromatin silencing IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS 9774669
genes like me logo Genes that share ontologies with MBD1: view

No data available for SIGNOR curated interactions for MBD1 Gene

Drugs & Compounds for MBD1 Gene

(2) Additional Compounds for MBD1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cytosine
  • 4-Amino-2(1H)-pyrimidinone
  • 4-Amino-2-hydroxypyrimidine
  • 4-Amino-2-oxo-1,2-dihydropyrimidine
  • 4-Aminouracil
  • Cytosine
71-30-7
genes like me logo Genes that share compounds with MBD1: view

Transcripts for MBD1 Gene

Unigene Clusters for MBD1 Gene

Methyl-CpG binding domain protein 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for MBD1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MBD1 Gene

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: - - - - -
SP6: - - - - - -
SP7: - - - - - -
SP8: - -
SP9: - - -
SP10:
SP11: - - -
SP12: - - - - - - -
SP13:
SP14: - - - - - - - - - - - - - -
SP15:
SP16: -
SP17: - - - - -
SP18:
SP19:
SP20:
SP21: -
SP22: - - -
SP23: - -
SP24: -
SP25:

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: - - - - - - - - - -
SP6: - - - - - -
SP7: - - - - - - - - - - - - - - - - -
SP8:
SP9: - - - - -
SP10: - - - - -
SP11:
SP12:
SP13:
SP14:
SP15: - - -
SP16:
SP17: -
SP18: - - - - - - -
SP19: - - - - - - - - - - - - -
SP20: - - - - - -
SP21:
SP22:
SP23:
SP24:
SP25:

Relevant External Links for MBD1 Gene

GeneLoc Exon Structure for
MBD1
ECgene alternative splicing isoforms for
MBD1

Expression for MBD1 Gene

mRNA expression in normal human tissues for MBD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MBD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.9), Placenta (9.1), and Testis (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MBD1 Gene



Protein tissue co-expression partners for MBD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MBD1 Gene:

MBD1

SOURCE GeneReport for Unigene cluster for MBD1 Gene:

Hs.405610

mRNA Expression by UniProt/SwissProt for MBD1 Gene:

Q9UIS9-MBD1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with MBD1: view

Primer Products

No data available for mRNA differential expression in normal tissues for MBD1 Gene

Orthologs for MBD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MBD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBD1 34 35
  • 99.9 (n)
dog
(Canis familiaris)
Mammalia MBD1 34 35
  • 88.99 (n)
cow
(Bos Taurus)
Mammalia MBD1 34 35
  • 86.51 (n)
mouse
(Mus musculus)
Mammalia Mbd1 34 16 35
  • 78.93 (n)
rat
(Rattus norvegicus)
Mammalia Mbd1 34
  • 77.45 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 62 (a)
OneToMany
-- 35
  • 56 (a)
OneToMany
-- 35
  • 54 (a)
OneToMany
-- 35
  • 31 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MBD1 35
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBD1 35
  • 45 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia mbd1-prov 34
zebrafish
(Danio rerio)
Actinopterygii mbd1 35
  • 17 (a)
OneToMany
MBD1 (2 of 2) 35
  • 15 (a)
OneToMany
Species where no ortholog for MBD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MBD1 Gene

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

Paralogs for MBD1 Gene

No data available for Paralogs for MBD1 Gene

Variants for MBD1 Gene

Sequence variations from dbSNP and Humsavar for MBD1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1059554 -- 50,282,570(-) CCTTA(A/C/G)ACCCT upstream-variant-2KB, utr-variant-3-prime
rs1062703 -- 50,279,955(-) GGGCC(C/T)TGGCT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs10775495 -- 50,276,601(+) CTAGC(A/G)TGACA intron-variant
rs111231040 -- 50,279,491(+) CAGCA(C/T)TATGC intron-variant
rs111396870 -- 50,281,535(+) GGAAG(G/T)CCGCT intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for MBD1 Gene

Variant ID Type Subtype PubMed ID
nsv576889 CNV loss 21841781
nsv953541 CNV deletion 24416366

Variation tolerance for MBD1 Gene

Residual Variation Intolerance Score: 5.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.76; 78.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MBD1 Gene

Human Gene Mutation Database (HGMD)
MBD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBD1 Gene

Disorders for MBD1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MBD1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
trigeminal nerve disease
  • trigeminal nerve diseases
trigeminal neuralgia
  • trifacial neuralgia
subacute cutaneous lupus erythematosus
  • lupus erythematosus cutaneous subacute
cranial nerve disease
  • cranial nerve disorder
rett syndrome
  • rett syndrome, preserved speech variant
- elite association - COSMIC cancer census association via MalaCards
Search MBD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MBD1

Genetic Association Database (GAD)
MBD1
Human Genome Epidemiology (HuGE) Navigator
MBD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MBD1
genes like me logo Genes that share disorders with MBD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MBD1 Gene

Publications for MBD1 Gene

  1. Genomic structure and chromosomal mapping of the murine and human mbd1, mbd2, mbd3, and mbd4 genes. (PMID: 10441743) Hendrich B. … Bird A. (Mamm. Genome 1999) 2 3 4 22 64
  2. Human BAHD1 promotes heterochromatic gene silencing. (PMID: 19666599) Bierne H. … Cossart P. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 22 64
  3. Methyl-CpG binding domain 1 gene polymorphisms and lung cancer risk in a Chinese population. (PMID: 18668384) Liu H. … Lu D. (Biomarkers 2008) 3 22 46 64
  4. Involvement of SUMO modification in MBD1- and MCAF1-mediated heterochromatin formation. (PMID: 16757475) Uchimura Y. … Saitoh H. (J. Biol. Chem. 2006) 3 4 22 64
  5. Regulation of MBD1-mediated transcriptional repression by SUMO and PIAS proteins. (PMID: 17066076) Lyst M.J. … Stancheva I. (EMBO J. 2006) 3 4 22 64

Products for MBD1 Gene

Sources for MBD1 Gene

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