UniProt:P51608-2 MECP2

chain
  • chain:1-486
checksum EB6A33233AEDA566
comment
  • FUNCTION Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).SUBUNIT Interacts with FNBP3 (By similarity). Interacts with CDKL5 (PubMed:15917271). Interacts with ATRX; MECP2 recruits ATRX to pericentric heterochromatin in neuronal cells (By similarity). Interacts with NCOR2 (By similarity). Interacts with TBL1XR1; bridges interaction between MECP2 and NCOR1 (PubMed:28348241). Interacts with TBL1X; recruits TBL1X to the heterochromatin foci (PubMed:28348241).INTERACTION Colocalized with methyl-CpG in the genome. Colocalized with TBL1X to the heterochromatin foci.ALTERNATIVE PRODUCTS Present in all adult somatic tissues tested.PTM Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity and seems to regulate dendritic growth and spine maturation.DISEASE The disease may be caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease may be caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry. The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Additional reports have confirmed a severe phenotype in males with Rett syndrome-associated MECP2 mutations.DISEASE The disease is caused by variants affecting the gene represented in this entry. Increased dosage of MECP2 due to gene duplication appears to be responsible for the intellectual disability phenotype.MISCELLANEOUS Ten times higher expression levels than isoform A in brain.SEQUENCE CAUTION Truncated N-terminus.
created [InstanceEdit:217385] Schmidt, EE, 2008年03月27日 06:23:53
databaseName UniProt
dbId 236960
description
  • recommendedName: Methyl-CpG-binding protein 2 shortName: MeCp-2 protein shortName: MeCp2
displayName UniProt:P51608-2 MECP2
geneName
  • MECP2
identifier P51608
isSequenceChanged false
isoformParent
keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Autism
  • Autism spectrum disorder
  • Chromosomal rearrangement
  • Disease variant
  • DNA-binding
  • Intellectual disability
  • Methylation
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Repressor
  • Transcription
  • Transcription regulation
modified [InstanceEdit:9948485] Weiser, Joel, 2025年05月21日
moleculeType Protein
name
  • MECP2
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
schemaClass ReferenceIsoform
secondaryIdentifier
  • MECP2_HUMAN
  • O15233
  • Q6QHH9
  • Q7Z384
sequenceLength 486
species [Species:48887] Homo sapiens
stId uniprot:P51608-2
url http://purl.uniprot.org/uniprot/P51608-2
variantIdentifier P51608-2

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