Tbio MBD5 Methyl-CpG-binding domain protein 5

Protein Summary

Description

Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro). 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 syndrome 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]

Uniprot Accession IDs

• Q9P267
• A5HMQ4
• A7E2B1
• Q53SR1
• Q9NUV6

Gene Name

• MBD5

Ensembl ID

• ENST00000407073
• ENSP00000386049
• ENSG00000204406
• ENST00000627651
• ENSP00000486370

Symbol

• KIAA1461
• MRD1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.83
hub protein	0.82
trait	0.75
tissue sample	0.66
transcription factor binding site profile	0.65

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 43.16   (req: < 5)

Gene RIFs: 20   (req: <= 3)

Antibodies: 102   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 43.16   (req: >= 5)

Gene RIFs: 20   (req: > 3)

Antibodies: 102   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0