Reactome | MECP2_e1 R145H [nucleoplasm]

MECP2_e1 R145H [nucleoplasm]

Stable Identifier

R-HSA-9022479

Type

Genes and Transcripts [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

MECP2B R145H

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External Reference Information

External Reference

UniProt:P51608-2 MECP2

Gene Names

MECP2

Participates

as a candidate of

MECP2 R133H [nucleoplasm] (Homo sapiens)

Other forms of this molecule

MECP2_e1 [nucleoplasm]

p-S92-MECP2_e1 [nucleoplasm]

p-T320-MeCP2_e1 [nucleoplasm]

p-S435-MECP2_e1 [nucleoplasm]

MeCP2_e1 R318H [nucleoplasm]

MeCP2_e1 R318C [nucleoplasm]

MeCP2_e1 K316E [nucleoplasm]

MeCP2_e1 P314R [nucleoplasm]

MeCP2_e1 K317R [nucleoplasm]

MECP2_e1 S144F [nucleoplasm]

MECP2_e1 T170M [nucleoplasm]

MECP2_e1 T170A [nucleoplasm]

MECP2_e1 R118W [nucleoplasm]

MECP2_e1 D133G [nucleoplasm]

MECP2_e1 R145C [nucleoplasm]

Modified Residues

Name

L-arginine 145 replaced with L-histidine

Coordinate

145

PsiMod

L-arginine removal [MOD:01632]

A protein modification that effectively removes or replaces an L-arginine.

L-histidine residue [MOD:00018]

A protein modification that effectively converts a source amino acid residue to an L-histidine.

Disease

Name	Identifier	Synonyms
Rett syndrome	DOID:1206	Rett's disorder, cerebroatrophic hyperammonemia

Cross References

RefSeq

NP_001303266.1, NP_001104262.1, NP_004983.1, XP_047298071.1, XP_054183067.1, XP_047298072.1, XP_054183066.1

OpenTargets

ENSG00000169057

ENSEMBL

ENST00000453960, ENST00000303391, ENSP00000301948, ENSP00000395535, ENSG00000169057

HPA

ENSG00000169057-MECP2

GeneCards

MECP2

PRO

P51608

Pharos - Targets

P51608

GlyGen

P51608

Orphanet

MECP2

PDB

1QK9, 8AJR, 6YWW, 3C2I, 6C1Y, 5BT2, 6OGK, 6OGJ, 8ALQ

Interactors (31)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q60974 Ncor1	3	Ncor1 [cytosol] (R-MMU-1253324) Ncor1 [nucleoplasm] (R-MMU-442459) Ncor1 [nucleoplasm] (R-MMU-442501)	0.591	4
UniProt:Q9QXE7 Tbl1x	2	Tbl1x [nucleoplasm] (R-MMU-2064253) Tbl1x [nucleoplasm] (R-MMU-351644)	0.591	3
UniProt:Q9QZR5	3	Hipk2 [nucleoplasm] (R-MMU-4090405) phospho-Hipk2 [nucleoplasm] (R-MMU-6799375) Hipk2 [nucleoplasm] (R-MMU-3215222)	0.581	3
UniProt:P63165 SUMO1	11	lysyl-G97-SUMO1 [nucleoplasm] (R-HSA-9761562) SUMO1(2-101) [nucleoplasm] (R-HSA-2990831) SUMO1 [nucleoplasm] (R-HSA-877304) UBA2-G97-SUMO1 [nucleoplasm] (R-HSA-3730616) UBE2I-G97-SUMO1 [nucleoplasm] (R-HSA-3730622) lysyl-G97-SUMO1 [cytosol] (R-HSA-9762266) lysyl-G97-SUMO1 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-9762380) UBE2I-G97-SUMO1 [cytosol] (R-HSA-4656941) lysyl-G97-SUMO1 [viral capsid] (R-HSA-9762386) lysyl-G97-SUMO1 [nucleolus] (R-HSA-9762385) lysyl-G97-SUMO1 [plasma membrane] (R-HSA-9762382)	0.564	2
UniProt:P35222 CTNNB1	20	CTNNB1 S45A [cytosol] (R-HSA-9663982) CTNNB1 S45F [cytosol] (R-HSA-4791268) CTNNB1 S45C [cytosol] (R-HSA-9663983) CTNNB1 S45Y [cytosol] (R-HSA-9663975) CTNNB1 S45N [cytosol] (R-HSA-9663984) CTNNB1 S45P [cytosol] (R-HSA-4791272) pT41,S45-CTNNB1 S37P [cytosol] (R-HSA-9663981) pT41,S45-CTNNB1 S37F [cytosol] (R-HSA-4839621) CTNNB1 [nucleoplasm] (R-HSA-3451168) CTNNB1 [cytosol] (R-HSA-448839) CTNNB1(1-115) [cytosol] (R-HSA-202930) CTNNB1(116-376) [cytosol] (R-HSA-202950) p-S33,S37,T41,S45 CTNNB1 [cytosol] (R-HSA-8942374) p-S37,T41,S45, CTNNB1 [cytosol] (R-HSA-8942369) p-T41,S45 CTNNB1 [cytosol] (R-HSA-8942367) p-S45 CTNNB1 [cytosol] (R-HSA-8942363) CTNNB1 [plasma membrane] (R-HSA-9038440) p-Y-CTNNB1 [cytosol] (R-HSA-8876940) p-S552-CTNNB1 [cytosol] (R-HSA-3134933) p-S552-CTNNB1 [nucleoplasm] (R-HSA-3134926)	0.556	3
UniProt:P07196 NEFL	1	NEFL [cytosol] (R-HSA-432284)	0.556	3
UniProt:P07948 LYN	7	LYN [cytosol] (R-HSA-354251) MyrG2-PalmC3-LYN [plasma membrane] (R-HSA-9606875) p-Y397-LYN [plasma membrane] (R-HSA-2454229) p-Y397-LYN [cytosol] (R-HSA-8942608) LYN [plasma membrane] (R-HSA-197943) MyrG2-PalmC3-LYN [endocytic vesicle membrane] (R-HSA-9705728) MyrG2-PalmC3-LYN [lysosomal membrane] (R-HSA-9707903)	0.556	3
UniProt:O75925 PIAS1	1	PIAS1 [nucleoplasm] (R-HSA-877307)	0.556	3
UniProt:O76024 WFS1	3	WFS1 [endoplasmic reticulum lumen] (R-HSA-8956747) p-WFS1 [endoplasmic reticulum lumen] (R-HSA-8956998) WFS1 [endoplasmic reticulum membrane] (R-HSA-535474)	0.556	3
UniProt:P04792 HSBP1	3	HSPB1 [cytosol] (R-HSA-450563) p-S15,S78,S82-HSP27 [cytosol] (R-HSA-5218697) p-S78,S82 HSPB1 [cytosol] (R-HSA-5687009)	0.556	3
UniProt:P10599 TXN	4	TXN [cytosol] (R-HSA-66000) 2xHC-TXN [cytosol] (R-HSA-73668) TXN [nucleoplasm] (R-HSA-9617732) 2xHC-TXN [nucleoplasm] (R-HSA-9617733)	0.556	3
UniProt:P42858 HTT	1	HTT [nucleoplasm] (R-HSA-9023590)	0.556	18
UniProt:Q12824 SMARCB1	1	SMARCB1 [nucleoplasm] (R-HSA-389261)	0.556	3
UniProt:Q96CV9 OPTN	6	p-S177,S473,S513-OPTN [cytosol] (R-HSA-9687840) OPTN [cytosol] (R-HSA-9687907) p-S177-OPTN [cytosol] (R-HSA-2562525) p-S177-OPTN [nucleoplasm] (R-HSA-2562595) OPTN [Golgi membrane] (R-HSA-2161111) OPTN [recycling endosome membrane] (R-HSA-8854141)	0.556	3
UniProt:P62241 RPS8	2	RPS8 [cytosol] (R-HSA-72385) RPS8 [nucleoplasm] (R-HSA-6791203)	0.527	3
UniProt:Q9Y3T9 NOC2L	1	NOC2L [nucleoplasm] (R-HSA-3222129)	0.527	3
UniProt:O43159 RRP8	1	RRP8 [nucleoplasm] (R-HSA-427524)	0.527	3
UniProt:P62917 RPL8	3	RPL8 [cytosol] (R-HSA-72490) RPL8 [nucleoplasm] (R-HSA-9630985) 3OHH216-RPL8 [nucleoplasm] (R-HSA-9630976)	0.527	3
UniProt:Q96RR1 TWNK	1	TWNK [mitochondrial matrix] (R-HSA-1592222)	0.527	3
UniProt:Q9BZK7 TBL1XR1	1	TBL1XR1 [nucleoplasm] (R-HSA-351643)	0.527	3
UniProt:Q9NW13 RBM28	1	RBM28 [nucleoplasm] (R-HSA-6791192)	0.527	3
UniProt:Q9HD42 CHMP1A	1	CHMP1A [cytosol] (R-HSA-917721)	0.527	2
UniProt:P54132 BLM	2	BLM [nucleoplasm] (R-HSA-174881) 4SUMO2,3-BLM [nucleoplasm] (R-HSA-4568883)	0.527	2
UniProt:Q9H5J8 TAF1D	1	TAF1D [nucleoplasm] (R-HSA-5138533)	0.527	2
UniProt:O15379 HDAC3	2	HDAC3 [nucleoplasm] (R-HSA-442464) Unfolded HDAC3 [cytosol] (R-HSA-6813777)	0.527	3
UniProt:Q8WVM0 TFB1M	1	TFB1M [mitochondrial matrix] (R-HSA-1592207)	0.527	2
UniProt:P19525 EIF2AK2	5	EIF2AK2 [cytosol] (R-HSA-168699) p-EIF2AK2 [cytosol] (R-HSA-9833834) ISG15-EIF2AK2 [cytosol] (R-HSA-9833968) SUMO-EIF2AK2 [cytosol] (R-HSA-9834829) p-EIF2AK2 [nucleoplasm] (R-HSA-9836332)	0.527	2
UniProt:Q8BHJ5 Tbl1xr1	1	Tbl1xr1 [nucleoplasm] (R-MMU-2064254)	0.525	4
UniProt:Q9WU42 Ncor2	3	monoSumo1-K668-Ncor2 [nucleoplasm] (R-MMU-3927907) Ncor2 [nucleoplasm] (R-MMU-442511) Ncor2 [nucleoplasm] (R-MMU-442469)	0.525	4
UniProt:P51531 SMARCA2	1	SMARCA2 [nucleoplasm] (R-HSA-389256)	0.524	4
UniProt:Q96ST3 SIN3A	2	SIN3A [nucleoplasm] (R-HSA-351657) monoSUMO1-SIN3A [nucleoplasm] (R-HSA-4086071)	0.499	2

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