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Details on Person UniProt:P51608-1 MECP2
| Class:Id | ReferenceIsoform:404286 |
|---|---|
| _chainChangeLog | chain:1-486 added on Sat February 7 2015 |
| _displayName | UniProt:P51608-1 MECP2 |
| _timestamp | 2025-05-21 21:19:23 |
| 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:400710] Schmidt, EE, 2009-03-25 05:33:35 |
| description | recommendedName: Methyl-CpG-binding protein 2 shortName: MeCp-2 protein shortName: MeCp2 |
| geneName | MECP2 |
| identifier | P51608 |
| isoformParent | |
| isSequenceChanged | FALSE |
| 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:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 |
| name | MECP2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8961115] ENSEMBL:ENSG00000169057 MECP2 [Homo sapiens] |
| secondaryIdentifier | MECP2_HUMAN O15233 Q6QHH9 Q7Z384 |
| sequenceLength | 486 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | P51608-1 |
| (referenceEntity) | [EntityWithAccessionedSequence:9005542] MECP2_e2 R306C [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9005563] MECP2_e2 K305R [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9005567] MECP2_e2 R306H [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9005573] MECP2_e2 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9005576] MECP2_e2 K304E [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9005588] MECP2_e2 P302R [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9005591] p-T308-MECP2_e2 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9006998] p-S423-MECP2_e2 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9022331] p-S80-MECP2_e2 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9022473] MECP2_e2 R133H [nucleoplasm] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:9005536] L-arginine 306 replaced with L-cysteine [ReplacedResidue:9005544] L-proline 302 replaced with L-arginine [ModifiedResidue:9005552] O-phospho-L-threonine at 308 [ReplacedResidue:9005570] L-lysine 305 replaced with L-arginine [ReplacedResidue:9005572] L-lysine 304 replaced with L-glutamic acid [ReplacedResidue:9005578] L-arginine 306 replaced with L-histidine [ModifiedResidue:9006997] O-phospho-L-serine at 423 [ModifiedResidue:9022329] O-phospho-L-serine at 80 [ReplacedResidue:9022475] L-arginine 133 replaced with L-histidine [ReplacedResidue:9022490] L-arginine 133 replaced with L-cysteine |
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No pathways have been reviewed or authored by UniProt:P51608-1 MECP2 (404286)
