Reactome | MeCP2_e1 R318H [nucleoplasm]

MeCP2_e1 R318H [nucleoplasm]

Stable Identifier

R-HSA-9005568

Type

Genes and Transcripts [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

MECP2B R318H

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Literature References

PubMed ID	Title	Journal	Year
15034579	A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome Mnatzakanian, GN, Lohi, H, Munteanu, I, Alfred, SE, Yamada, T, MacLeod, PJ, Jones, JR, Scherer, SW, Schanen, NC, Friez, MJ, Vincent, JB, Minassian, BA	Nat. Genet.	2004

External Reference Information

External Reference

UniProt:P51608-2 MECP2

Gene Names

MECP2

Participates

as a candidate of

MECP2 R306H [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 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 R145H [nucleoplasm]

MECP2_e1 D133G [nucleoplasm]

MECP2_e1 R145C [nucleoplasm]

Modified Residues

Name

L-arginine 318 replaced with L-histidine

Coordinate

318

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_004983.1, XP_054183066.1, XP_054183067.1, XP_047298071.1, XP_047298072.1, NP_001104262.1, NP_001303266.1

OpenTargets

ENSG00000169057

ENSEMBL

ENST00000630151, ENSG00000169057, ENSP00000301948, ENSP00000395535, ENST00000453960, ENSP00000486089, ENST00000303391

Mondo

0010726

GeneCards

MECP2

HPA

ENSG00000169057-MECP2

PRO

P51608

Pharos - Targets

P51608

GlyGen

P51608

Orphanet

MECP2

PDB

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

Interactors (32)

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) CTNNB1 [plasma membrane] (R-HSA-9038440) 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) 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:Q12824 SMARCB1	1	SMARCB1 [nucleoplasm] (R-HSA-389261)	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: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 [lysosomal membrane] (R-HSA-9707903) MyrG2-PalmC3-LYN [endocytic vesicle membrane] (R-HSA-9705728)	0.556	3
UniProt:P07196 NEFL	1	NEFL [cytosol] (R-HSA-432284)	0.556	3
UniProt:P04792 HSPB1	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:P42858 HTT	1	HTT [nucleoplasm] (R-HSA-9023590)	0.556	18
UniProt:Q96CV9 OPTN	6	p-S177,S473,S513-OPTN [cytosol] (R-HSA-9687840) OPTN [cytosol] (R-HSA-9687907) OPTN [Golgi membrane] (R-HSA-2161111) p-S177-OPTN [cytosol] (R-HSA-2562525) p-S177-OPTN [nucleoplasm] (R-HSA-2562595) OPTN [recycling endosome membrane] (R-HSA-8854141)	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:Q9NW13 RBM28	1	RBM28 [nucleoplasm] (R-HSA-6791192)	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:Q96RR1 TWNK	1	TWNK [mitochondrial matrix] (R-HSA-1592222)	0.527	3
UniProt:Q9H5J8 TAF1D	1	TAF1D [nucleoplasm] (R-HSA-5138533)	0.527	2
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:Q8WVM0 TFB1M	1	TFB1M [mitochondrial matrix] (R-HSA-1592207)	0.527	2
UniProt:O15379 HDAC3	2	HDAC3 [nucleoplasm] (R-HSA-442464) Unfolded HDAC3 [cytosol] (R-HSA-6813777)	0.527	3
UniProt:P62241 RPS8	2	RPS8 [cytosol] (R-HSA-72385) RPS8 [nucleoplasm] (R-HSA-6791203)	0.527	3
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:Q9BZK7 TBL1XR1	1	TBL1XR1 [nucleoplasm] (R-HSA-351643)	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:Q07020 RPL18	1	RPL18 [cytosol] (R-HSA-72420)	0.527	3
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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