Methyl-cpg binding domain protein 5

Methyl-CpG binding domain protein 5 is a protein that in humans is encoded by the MBD5 gene. [5]

MBD5
Identifiers
AliasesMBD5, MRD1, methyl-CpG binding domain protein 5
External IDsOMIM: 611472 MGI: 2138934 HomoloGene: 81861 GeneCards: MBD5
Orthologs
SpeciesHumanMouse
Entrez

55777

109241

Ensembl

ENSG00000204406

ENSMUSG00000036792

UniProt

Q9P267

B1AYB6

RefSeq (mRNA)

NM_018328

NM_001290656
NM_029924

RefSeq (protein)

NP_060798
NP_001365049

NP_001277585
NP_084200

Location (UCSC)Chr 2: 148.02 – 148.52 MbChr 2: 48.95 – 49.33 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a variety of Kleefstra syndrome[6] involving microcephaly, intellectual disabilities, severe speech impairment, and seizures . Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017].

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000204406 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000036792 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Methyl-CpG binding domain protein 5". Retrieved 2018-07-25.
  6. Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, et al. (July 2012). "Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability". American Journal of Human Genetics. 91 (1): 73–82. doi:10.1016/j.ajhg.2012.05.003. PMC 3397275. PMID 22726846.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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