InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MBD5

Summary

InnateDB Protein

IDBP-294093.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MBD5

Protein Name

methyl-CpG binding domain protein 5

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000386049

InnateDB Gene

IDBG-71831 (MBD5)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Isoform 1: Nucleus. Chromosome. Note=Associated with pericentric heterochromatin.Isoform 2: Nucleus. Note=Not associated with pericentric heterochromatin.

Disease Associations

Mental retardation, autosomal dominant 1 (MRD1) [MIM:156200]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269PubMed:17847001}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in heart, placenta, liver, skeletal muscle, kidney and pancreas. {ECO:0000269PubMed:12529184}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding

Biological Process

GO:0007399	nervous system development
GO:0040014	regulation of multicellular organism growth
GO:0042593	glucose homeostasis
GO:0044708	single-organism behavior
GO:0060399	positive regulation of growth hormone receptor signaling pathway