Reactome | UniProt:P51608-1 MECP2

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UniProt:P51608-1 MECP2 Show undefined attributes

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.ONLINE INFORMATION IRSA MECP2 variation database
created	[InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35
crossReference	[DatabaseIdentifier:10970445] Pharos - Targets:P51608 [DatabaseIdentifier:11050230] OpenTargets:ENSG00000169057 [DatabaseIdentifier:11601089] RefSeq:NP_001104262.1 [DatabaseIdentifier:11601108] RefSeq:NP_001303266.1 [DatabaseIdentifier:11601124] RefSeq:NP_004983.1 [DatabaseIdentifier:11750803] PDB:1QK9 [DatabaseIdentifier:11750823] PDB:3C2I [DatabaseIdentifier:11750836] PDB:5BT2 [DatabaseIdentifier:11750857] PDB:6C1Y [DatabaseIdentifier:11750870] PDB:6OGJ [DatabaseIdentifier:11750890] PDB:6OGK [DatabaseIdentifier:11750904] PDB:6YWW [DatabaseIdentifier:11807007] PRO:P51608 [DatabaseIdentifier:11843410] GeneCards:P51608 [DatabaseIdentifier:11881626] Orphanet:16388 [DatabaseIdentifier:11893032] HPA:ENSG00000169057-MECP2 [DatabaseIdentifier:11989329] Ensembl:ENSP00000301948 [DatabaseIdentifier:11989330] Ensembl:ENST00000303391 [DatabaseIdentifier:11989331] Ensembl:ENSG00000169057 [DatabaseIdentifier:11989332] Ensembl:ENSP00000395535 [DatabaseIdentifier:11989333] Ensembl:ENST00000453960
databaseName	UniProt
dbId	404286
description	recommendedName: Methyl-CpG-binding protein 2 shortName: MeCp-2 protein shortName: MeCp2
displayName	UniProt:P51608-1 MECP2
geneName	MECP2
identifier	P51608
isSequenceChanged	false
isoformParent	[ReferenceGeneProduct:59129] UniProt:P51608 MECP2
keyword	3D-structure Acetylation Alternative splicing Autism Autism spectrum disorder Chromosomal rearrangement Disease variant DNA-binding Intellectual disability Methylation Nucleus Phosphoprotein Reference proteome Repeat Repressor Transcription Transcription regulation
modified	[InstanceEdit:12187927] Wright, Adam, 2024-03-12
name	MECP2
otherIdentifier	11722682_at 11722683_a_at 11722684_a_at 17115428 17115453 202616_PM_s_at 202616_s_at 202617_PM_s_at 202617_s_at 202618_PM_s_at 202618_s_at 34355_at 4027023 4027024 4027025 4027026 4027027 4027028 4027029 4027030 4027031 4027032 4027033 4027034 4027035 4027036 4027037 4027038 4027039 4027040 4027041 4027042 4027043 4027044 4027045 4027046 4027047 4027048 4027049 4027050 4027051 4027052 4027053 4027055 4027057 4027058 4027059 4027060 4027061 4027062 4027080 4027081 4027090 4027091 4027092 4204 8175977 8175998 A_23_P114361 A_24_P237486 A_33_P3317211 A_33_P3339036 GE54240 GO:0000122 GO:0000278 GO:0000400 GO:0000785 GO:0000792 GO:0001662 GO:0001666 GO:0001964 GO:0001976 GO:0002087 GO:0003013 GO:0003016 GO:0003676 GO:0003677 GO:0003682 GO:0003714 GO:0003723 GO:0003729 GO:0005515 GO:0005576 GO:0005615 GO:0005634 GO:0005654 GO:0005694 GO:0005737 GO:0005813 GO:0005815 GO:0005829 GO:0005856 GO:0005975 GO:0006020 GO:0006325 GO:0006351 GO:0006355 GO:0006357 GO:0006520 GO:0006541 GO:0006576 GO:0006629 GO:0007010 GO:0007018 GO:0007052 GO:0007219 GO:0007268 GO:0007416 GO:0007420 GO:0007507 GO:0007585 GO:0007612 GO:0007613 GO:0007616 GO:0008104 GO:0008211 GO:0008283 GO:0008284 GO:0008306 GO:0008327 GO:0008344 GO:0008542 GO:0009791 GO:0010212 GO:0010288 GO:0010385 GO:0010467 GO:0010468 GO:0010628 GO:0010629 GO:0010971 GO:0012501 GO:0014003 GO:0014009 GO:0014070 GO:0016358 GO:0016525 GO:0019230 GO:0019233 GO:0019899 GO:0019904 GO:0021510 GO:0021549 GO:0021591 GO:0021740 GO:0021756 GO:0021766 GO:0021772 GO:0021794 GO:0021987 GO:0023052 GO:0030154 GO:0030182 GO:0031047 GO:0031175 GO:0031490 GO:0031507 GO:0031915 GO:0032048 GO:0032355 GO:0032991 GO:0033555 GO:0034330 GO:0035176 GO:0035197 GO:0035865 GO:0036211 GO:0040029 GO:0042220 GO:0042551 GO:0042802 GO:0042826 GO:0043226 GO:0043524 GO:0043537 GO:0044030 GO:0045322 GO:0045892 GO:0045893 GO:0045944 GO:0046470 GO:0048167 GO:0048286 GO:0048709 GO:0048712 GO:0048856 GO:0048870 GO:0050432 GO:0050807 GO:0050877 GO:0050884 GO:0050905 GO:0051151 GO:0051570 GO:0051707 GO:0060079 GO:0060090 GO:0060252 GO:0060291 GO:0060999 GO:0061000 GO:0065003 GO:0071317 GO:0071514 GO:0090063 GO:0090327 GO:0098794 GO:0098978 GO:0099191 GO:0099611 GO:0140110 GO:0140566 GO:0140693 GO:1901953 GO:1901956 GO:1903860 GO:1903861 GO:1903941 GO:1905492 GO:1905643 GO:1990841 GO:2000635 HMNXSV003006762 HMNXSV003039744 HMNXSV003048644 Hs.3239.0.S2_3p_a_at ILMN_1702715 PH_hs_0000399 TC0X001524.hg X89430_at X94628_rna1_s_at g7710148_3p_a_at g972764_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-9022488] MECP2_e2 R133C [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9022496] MECP2_e2 D121G [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9022473] MECP2_e2 R133H [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9023450] MECP2_e2 R106W [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9023416] MECP2_e2 T158A [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9023415] MECP2_e2 T158M [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9022506] MECP2_e2 S134F [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9005563] MECP2_e2 K305R [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9005588] MECP2_e2 P302R [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9005576] MECP2_e2 K304E [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9005542] MECP2_e2 R306C [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9005573] MECP2_e2 [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9022331] p-S80-MECP2_e2 [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9005591] p-T308-MECP2_e2 [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9006998] p-S423-MECP2_e2 [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9005567] MECP2_e2 R306H [nucleoplasm] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8961115] ENSEMBL:ENSG00000169057 MECP2 [ReferenceDNASequence:11032352] KEGG Gene (Homo sapiens):4204 MECP2 [ReferenceDNASequence:11279815] NCBI Gene:4204 MECP2 [ReferenceDNASequence:11279816] BioGPS Gene:4204 MECP2 [ReferenceDNASequence:11279817] CTD Gene:4204 MECP2 [ReferenceDNASequence:11279818] dbSNP Gene:4204 MECP2 [ReferenceDNASequence:11279819] Monarch:4204 MECP2 [ReferenceDNASequence:11352433] ENSEMBL_homo_sapiens_GENE:ENSG00000169057.25 MECP2 [ReferenceDNASequence:11515171] UCSC:P51608 MECP2 [ReferenceDNASequence:11801586] OMIM:300005 MECP2 [ReferenceDNASequence:11870767] HGNC:6990 MECP2 [ReferenceDNASequence:12192059] COSMIC (genes):MECP2 MECP2
referenceTranscript	[ReferenceRNASequence:11457551] RefSeq:NM_001110792.1 MECP2 [ReferenceRNASequence:11457565] RefSeq:NM_001316337.1 MECP2 [ReferenceRNASequence:11457579] RefSeq:NM_004992.3 MECP2
schemaClass	ReferenceIsoform
secondaryIdentifier	MECP2_HUMAN O15233 Q6QHH9 Q7Z384
sequenceLength	486
species	[Species:48887] Homo sapiens
url	https://purl.uniprot.org/uniprot/P51608-1
variantIdentifier	P51608-1

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-9022488] MECP2_e2 R133C [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9022496] MECP2_e2 D121G [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9022473] MECP2_e2 R133H [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9023450] MECP2_e2 R106W [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9023416] MECP2_e2 T158A [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9023415] MECP2_e2 T158M [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9022506] MECP2_e2 S134F [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9005563] MECP2_e2 K305R [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9005588] MECP2_e2 P302R [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9005576] MECP2_e2 K304E [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9005542] MECP2_e2 R306C [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9005573] MECP2_e2 [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9022331] p-S80-MECP2_e2 [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9005591] p-T308-MECP2_e2 [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9006998] p-S423-MECP2_e2 [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-9005567] MECP2_e2 R306H [nucleoplasm]
(referenceSequence)	[ReplacedResidue:9022490] L-arginine 133 replaced with L-cysteine [ReplacedResidue:9022494] L-aspartic acid 121 replaced with glycine [ReplacedResidue:9022475] L-arginine 133 replaced with L-histidine [ReplacedResidue:9023449] L-arginine 106 replaced with L-tryptophan [ReplacedResidue:9023410] L-threonine 158 replaced with L-alanine [ReplacedResidue:9023417] L-threonine 158 replaced with L-methionine [ReplacedResidue:9022508] L-serine 134 replaced with L-phenylalanine [ReplacedResidue:9005570] L-lysine 305 replaced with L-arginine [ReplacedResidue:9005544] L-proline 302 replaced with L-arginine [ReplacedResidue:9005572] L-lysine 304 replaced with L-glutamic acid [ReplacedResidue:9005536] L-arginine 306 replaced with L-cysteine [ModifiedResidue:9022329] O-phospho-L-serine at 80 [ModifiedResidue:9005552] O-phospho-L-threonine at 308 [ModifiedResidue:9006997] O-phospho-L-serine at 423 [ReplacedResidue:9005578] L-arginine 306 replaced with L-histidine
(interactor)	[UndirectedInteraction:12241809] UniProt:O88508 <-> UniProt:P51608-1 (IntAct)