| UniProt Protein Function: | MBD5: Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro). Defects in MBD5 are the cause of mental retardation autosomal dominant type 1 (MRD1). Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. 2 isoforms of the human protein are produced by alternative splicing.Protein type: Unknown functionChromosomal Location of Human Ortholog: 2q23.1Cellular Component: nucleus; chromocenterMolecular Function: DNA binding; chromatin bindingBiological Process: nervous system development; regulation of multicellular organism growth; glucose homeostasisDisease: Mental Retardation, Autosomal Dominant 1 |
| UniProt Protein Details: | |
| NCBI Summary: | 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 mental retardation autosomal dominant type 1. 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, Mar 2010] |
| UniProt Code: | Q9P267 |
| NCBI GenInfo Identifier: | 296439306 |
| NCBI Gene ID: | 55777 |
| NCBI Accession: | Q9P267.3 |
| UniProt Secondary Accession: | Q9P267,Q53SR1, Q9NUV6, A5HMQ4, A7E2B1 |
| UniProt Related Accession: | Q9P267 |
| Molecular Weight: | 1494 |
| NCBI Full Name: | Methyl-CpG-binding domain protein 5 |
| NCBI Synonym Full Names: | methyl-CpG binding domain protein 5 |
| NCBI Official Symbol: | MBD5Â Â |
| NCBI Official Synonym Symbols: | MRD1Â Â |
| NCBI Protein Information: | methyl-CpG-binding domain protein 5; methyl-CpG-binding protein MBD5 |
| UniProt Protein Name: | Methyl-CpG-binding domain protein 5 |
| UniProt Synonym Protein Names: | Methyl-CpG-binding protein MBD5 |
| Protein Family: | Methyl-CpG-binding domain protein |
| UniProt Gene Name: | MBD5Â Â |
| UniProt Entry Name: | MBD5_HUMAN |
