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Aliases for MBD1 Gene

Aliases for MBD1 Gene

  • Methyl-CpG Binding Domain Protein 1 2 3
  • PCM1 3 4 6
  • Protein Containing Methyl-CpG-Binding Domain 1 3 4
  • CXXC-Type Zinc Finger Protein 3 3 4
  • CXXC3 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 neuralgia and cutaneous lupus erythematosus. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MBD1 Gene

Start:
50,266,882 bp from pter
End:
50,281,774 bp from pter
Size:
14,893 bases
Orientation:
Minus strand

Genomic View for MBD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for MBD1 Gene at MOPED

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 Lys422
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MBD1 Gene

Domains for MBD1 Gene

Protein Domains for MBD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UIS9

UniProtKB/Swiss-Prot:

MBD1_HUMAN :
  • Q9UIS9
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

No data available for Gene Families for MBD1 Gene

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:0003700 sequence-specific DNA binding transcription factor activity TAS 10866667
GO:0003714 transcription corepressor activity TAS 10866667
GO:0005515 protein binding IPI 12665582
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with MBD1: view
genes like me logo Genes that share phenotypes with MBD1: view

Animal Model Products

CRISPR Products

miRNA for MBD1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MBD1

Clone Products

  • Addgene plasmids for MBD1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for MBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin --
GO:0000792 heterochromatin IEA --
GO:0005634 nucleus NAS 10454587
GO:0005737 cytoplasm IEA --
GO:0016363 nuclear matrix ISS --
genes like me logo Genes that share ontologies with MBD1: view

Pathways for MBD1 Gene

genes like me logo Genes that share pathways with MBD1: view

Pathways by source for MBD1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for MBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter TAS 9774669
GO:0045892 negative regulation of transcription, DNA-templated NAS 10454587
genes like me logo Genes that share ontologies with MBD1: view

Compounds for MBD1 Gene

(1) HMDB Compounds for MBD1 Gene

Compound Synonyms Cas Number PubMed IDs
Cytosine
  • 4-Amino-2(1H)-pyrimidinone
71-30-7

(1) Novoseek inferred chemical compound relationships for MBD1 Gene

Compound -log(P) Hits PubMed IDs
5-aza-2deoxycytidine 55.4 1
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MBD1

Clone Products

  • Addgene plasmids for MBD1

Primer Products

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

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for MBD1 Gene

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 expressions with MBD1: view

In Situ Assay 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 35
  • 99.9 (n)
  • 99.85 (a)
MBD1 36
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MBD1 35
  • 86.51 (n)
  • 85.07 (a)
MBD1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBD1 35
  • 88.99 (n)
  • 86.54 (a)
MBD1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mbd1 35
  • 78.93 (n)
  • 69.14 (a)
Mbd1 16
Mbd1 36
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 54 (a)
OneToMany
-- 36
  • 31 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MBD1 36
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mbd1 35
  • 77.45 (n)
  • 64.68 (a)
lizard
(Anolis carolinensis)
Reptilia MBD1 36
  • 45 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia mbd1-prov 35
zebrafish
(Danio rerio)
Actinopterygii mbd1 36
  • 17 (a)
OneToMany
MBD1 (2 of 2) 36
  • 15 (a)
OneToMany
Species with no ortholog for MBD1:
  • 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 MAF
rs125555 - 50,273,809(-) CGCCC(C/G)CACCT reference, missense
rs140686 -- 50,276,984(-) GTGGC(A/G)GTTGC synonymous-codon, reference
rs140687 -- 50,276,088(-) CTAAT(G/T)GGGGA intron-variant
rs140688 -- 50,276,028(-) GACCA(A/G)TGCTT intron-variant
rs140689 -- 50,274,051(-) GTTCT(A/T)GGCTT intron-variant

Relevant External Links for MBD1 Gene

HapMap Linkage Disequilibrium report
MBD1
Human Gene Mutation Database (HGMD)
MBD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MBD1 Gene

Disorders for MBD1 Gene

(2) University of Copenhagen DISEASES for MBD1 Gene

(3) Novoseek inferred disease relationships for MBD1 Gene

Disease -log(P) Hits PubMed IDs
cancer lung 18.2 6
cancer 6.67 2
tumors 4.17 7

Relevant External Links for MBD1

Genetic Association Database (GAD)
MBD1
Human Genome Epidemiology (HuGE) Navigator
MBD1
genes like me logo Genes that share disorders with MBD1: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. Methylation-mediated transcriptional silencing in euchromatin by methyl-CpG binding protein MBD1 isoforms. (PMID: 10454587) Fujita N. … Nakao M. (Mol. Cell. Biol. 1999) 3 4 23
  3. Solution structure of the methyl-CpG-binding domain of the methylation-dependent transcriptional repressor MBD1. (PMID: 10581239) Ohki I. … Shirakawa M. (EMBO J. 1999) 3 4 23
  4. Active repression of methylated genes by the chromosomal protein MBD1. (PMID: 10648624) Ng H.-H. … Bird A. (Mol. Cell. Biol. 2000) 3 4 23
  5. Identification and characterization of a family of mammalian methyl- CpG binding proteins. (PMID: 9774669) Hendrich B. … Bird A. (Mol. Cell. Biol. 1998) 3 4 23

Products for MBD1 Gene

  • Addgene plasmids for MBD1

Sources for MBD1 Gene

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