Reactome | MECP2_e2 K305R [nucleoplasm]

MECP2_e2 K305R [nucleoplasm]

Stable Identifier

R-HSA-9005563

Type

Genes and Transcripts [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

MECP2A K305R

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Disease (Homo sapiens)

- Disorders of Developmental Biology (Homo sapiens)
  - Disorders of Nervous System Development (Homo sapiens)
    - Pervasive developmental disorders (Homo sapiens)
      - Loss of function of MECP2 in Rett syndrome (Homo sapiens)
        
        Loss of MECP2 binding ability to the NCoR/SMRT complex (Homo sapiens)
        
        MECP2 mutants P302R,K304E,K305R,R306C,(R306H) do not bind NCoR/SMRT complex (Homo sapiens)
        
        MECP2 mutants P302R,K304E,K305R,R306C,(R306H) [nucleoplasm] (Homo sapiens)
        
        MECP2 K305R [nucleoplasm] (Homo sapiens)
        
        MECP2_e2 K305R [nucleoplasm] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
23770565	Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor Lyst, MJ, Ekiert, R, Ebert, DH, Merusi, C, Nowak, J, Selfridge, J, Guy, J, Kastan, NR, Robinson, ND, de Lima Alves, F, Rappsilber, J, Greenberg, ME, Bird, A	Nat. Neurosci.	2013
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:P51608-1 MECP2

Gene Names

MECP2

Other Identifiers

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

4027065

4027068

4027069

4027078

4027079

4027080

4027081

4027082

4027083

4027084

4027085

4027086

4027087

4027088

4027089

4027090

4027091

4027092

4027099

4027100

4204

8175977

8175998

A_23_P114361

A_24_P237486

A_33_P3317211

A_33_P3339036

GE54240

GE726319

GO:0000122

GO:0000785

GO:0000792

GO:0001662

GO:0001666

GO:0001964

GO:0001976

GO:0002087

GO:0003676

GO:0003677

GO:0003682

GO:0003714

GO:0003723

GO:0003729

GO:0005515

GO:0005615

GO:0005634

GO:0005654

GO:0005737

GO:0005813

GO:0005815

GO:0005829

GO:0006020

GO:0006325

GO:0006355

GO:0006357

GO:0006520

GO:0006541

GO:0006576

GO:0006629

GO:0007219

GO:0007268

GO:0007416

GO:0007420

GO:0007585

GO:0007612

GO:0007613

GO:0007616

GO:0008104

GO:0008211

GO:0008283

GO:0008306

GO:0008327

GO:0008344

GO:0008542

GO:0009791

GO:0010385

GO:0010467

GO:0010468

GO:0010629

GO:0014009

GO:0016358

GO:0016525

GO:0019230

GO:0019233

GO:0021549

GO:0021591

GO:0030182

GO:0031175

GO:0031507

GO:0032048

GO:0033555

GO:0034330

GO:0035176

GO:0035197

GO:0040029

GO:0042551

GO:0043524

GO:0043537

GO:0044027

GO:0045202

GO:0045892

GO:0045893

GO:0045944

GO:0046470

GO:0048167

GO:0048468

GO:0048856

GO:0050432

GO:0050877

GO:0050884

GO:0050905

GO:0051093

GO:0051151

GO:0051707

GO:0060079

GO:0060090

GO:0060252

GO:0060291

GO:0071514

GO:0090063

GO:0098794

GO:0099191

GO:0140566

GO:0140693

GO:1990841

GO:2000026

HMNXSV003006762

HMNXSV003039744

HMNXSV003048644

Hs.3239.0.S2_3p_a_at

ILMN_1702715

ILMN_1824898

PH_hs_0000399

TC0X001524.hg

TC0X002288.hg

X89430_at

X94628_rna1_s_at

X99687_at

g7710148_3p_a_at

g972764_3p_a_at

Participates

as a member of

MECP2 K305R [nucleoplasm] (Homo sapiens)

Other forms of this molecule

MECP2_e2 [nucleoplasm]

p-S80-MECP2_e2 [nucleoplasm]

p-T308-MECP2_e2 [nucleoplasm]

p-S423-MECP2_e2 [nucleoplasm]

MECP2_e2 R306H [nucleoplasm]

MECP2_e2 R306C [nucleoplasm]

MECP2_e2 K304E [nucleoplasm]

MECP2_e2 P302R [nucleoplasm]

MECP2_e2 S134F [nucleoplasm]

MECP2_e2 T158M [nucleoplasm]

MECP2_e2 T158A [nucleoplasm]

MECP2_e2 R106W [nucleoplasm]

MECP2_e2 R133H [nucleoplasm]

MECP2_e2 D121G [nucleoplasm]

MECP2_e2 R133C [nucleoplasm]

Modified Residues

Name

L-lysine 305 replaced with L-arginine

Coordinate

305

PsiMod

L-arginine residue [MOD:00011]

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

L-lysine removal [MOD:01642]

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

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

ENSEMBL

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

OpenTargets

ENSG00000169057

Mondo

0010726

GeneCards

MECP2

HPA

ENSG00000169057-MECP2

PRO

P51608

Pharos - Targets

P51608

Orphanet

MECP2

GlyGen

P51608

PDB

6YWW, 8AJR, 3C2I, 6OGJ, 8ALQ, 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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