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

Other Identifiers

0006510725

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:0000792

GO:0001662

GO:0001666

GO:0001964

GO:0001976

GO:0002087

GO:0003013

GO:0003016

GO:0003674

GO:0003677

GO:0003682

GO:0003700

GO:0003714

GO:0003723

GO:0003729

GO:0005515

GO:0005575

GO:0005576

GO:0005615

GO:0005622

GO:0005634

GO:0005654

GO:0005694

GO:0005737

GO:0005813

GO:0005815

GO:0005829

GO:0005856

GO:0005975

GO:0006020

GO:0006325

GO:0006349

GO:0006351

GO:0006355

GO:0006357

GO:0006520

GO:0006541

GO:0006576

GO:0006629

GO:0007010

GO:0007052

GO:0007219

GO:0007268

GO:0007416

GO:0007420

GO:0007585

GO:0007612

GO:0007613

GO:0007616

GO:0008104

GO:0008150

GO:0008211

GO:0008283

GO:0008284

GO:0008306

GO:0008327

GO:0008344

GO:0008542

GO:0009791

GO:0010385

GO:0010467

GO:0010468

GO:0010629

GO:0010971

GO:0012501

GO:0014009

GO:0016358

GO:0016525

GO:0016571

GO:0016573

GO:0019230

GO:0019233

GO:0019904

GO:0021549

GO:0021591

GO:0023052

GO:0030154

GO:0030182

GO:0031175

GO:0031507

GO:0032048

GO:0033555

GO:0034330

GO:0035176

GO:0035197

GO:0036211

GO:0040029

GO:0042551

GO:0043226

GO:0043524

GO:0043537

GO:0045202

GO:0045892

GO:0045893

GO:0045944

GO:0046470

GO:0047485

GO:0048167

GO:0048856

GO:0048870

GO:0050432

GO:0050877

GO:0050884

GO:0050905

GO:0051151

GO:0051570

GO:0051707

GO:0060079

GO:0060252

GO:0060291

GO:0065003

GO:0090063

GO:0098794

GO:0099191

GO:1900114

GO:1905643

GO:1990841

GO:2000820

HMNXSV003006762

HMNXSV003039744

HMNXSV003048644

Hs.3239.0.S2_3p_a_at

ILMN_1682091

ILMN_1702715

ILMN_3310740

PH_hs_0000399

TC0X001524.hg

X89430_at

X94628_rna1_s_at

g7710148_3p_a_at

g972764_3p_a_at

Participates

as a candidate of

MECP2 R133H [nucleoplasm] (Homo sapiens)

Other forms of this molecule

MECP2_e1 R145C [nucleoplasm]

MECP2_e1 D133G [nucleoplasm]

MECP2_e1 R118W [nucleoplasm]

MECP2_e1 T170A [nucleoplasm]

MECP2_e1 T170M [nucleoplasm]

MECP2_e1 S144F [nucleoplasm]

MeCP2_e1 K317R [nucleoplasm]

MeCP2_e1 P314R [nucleoplasm]

MeCP2_e1 K316E [nucleoplasm]

MeCP2_e1 R318C [nucleoplasm]

MECP2_e1 [nucleoplasm]

p-S92-MECP2_e1 [nucleoplasm]

p-T320-MeCP2_e1 [nucleoplasm]

p-S435-MECP2_e1 [nucleoplasm]

MeCP2_e1 R318H [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_004983.1, NP_001104262.1, NP_001303266.1

OpenTargets

ENSG00000169057

HPA

ENSG00000169057-MECP2

GeneCards

P51608

Ensembl

ENSG00000169057, ENSP00000301948, ENST00000303391, ENSP00000395535, ENST00000453960

PRO

P51608

Pharos - Targets

P51608

Orphanet

16388

PDB

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

Interactors (15)

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	monoSUMO1-K32-HIPK2 [nucleoplasm] (R-MMU-4090405) phospho-p-HIPK2 [nucleoplasm] (R-MMU-6799375) HIPK2 [nucleoplasm] (R-MMU-3215222)	0.581	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:Q96CV9 OPTN	5	OPTN [recycling endosome membrane] (R-HSA-8854141) p-S177-OPTN [nucleoplasm] (R-HSA-2562595) p-S177-OPTN [cytosol] (R-HSA-2562525) OPTN [Golgi membrane] (R-HSA-2161111) OPTN [cytosol] (R-HSA-9687907)	0.556	3
UniProt:O75925 PIAS1	1	PIAS1 [nucleoplasm] (R-HSA-877307)	0.556	3
UniProt:P42858 HTT	1	HTT [nucleoplasm] (R-HSA-9023590)	0.556	18
UniProt:P10599 TXN	4	2xHC-TXN [nucleoplasm] (R-HSA-9617733) TXN [nucleoplasm] (R-HSA-9617732) 2xHC-TXN [cytosol] (R-HSA-73668) TXN [cytosol] (R-HSA-66000)	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:P07948 LYN	7	MyrG2-PalmC3-LYN [lysosomal membrane] (R-HSA-9707903) MyrG2-PalmC3-LYN [endocytic vesicle membrane] (R-HSA-9705728) LYN [plasma membrane] (R-HSA-197943) p-Y397-LYN [cytosol] (R-HSA-8942608) p-Y396-LYN [plasma membrane] (R-HSA-2454229) LYN [cytosol] (R-HSA-354251) MyrG2-PalmC3-LYN [plasma membrane] (R-HSA-9606875)	0.556	3
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) pT41,S45-CTNNB1 S37A [cytosol] (R-HSA-4839619) pT41,S45-CTNNB1 S37Y [cytosol] (R-HSA-9663978) pT41,S45-CTNNB1 S37C [cytosol] (R-HSA-4839617) pS37,T41,S45-CTNNB1 S33A [cytosol] (R-HSA-9663976) pS37,T41,S45-CTNNB1 S33T [cytosol] (R-HSA-9663977) pS37,T41,S45-CTNNB1 S33C [cytosol] (R-HSA-4839630) pS37,T41,S45-CTNNB1 S33F [cytosol] (R-HSA-4839628) pS37,T41,S45-CTNNB1 S33P [cytosol] (R-HSA-4839626) pS37,T41,S45-CTNNB1 S33Y [cytosol] (R-HSA-4839625) pS45-CTNNB1 T41N [cytosol] (R-HSA-9663980) pS45-CTNNB1 T41A [cytosol] (R-HSA-4836868) pS45-CTNNB1 T41I [cytosol] (R-HSA-4839612)	0.556	3
UniProt:P07196 NEFL	1	NEFL [cytosol] (R-HSA-432284)	0.556	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:Q96ST3 SIN3A	2	SIN3A [nucleoplasm] (R-HSA-351657) monoSUMO1-SIN3A [nucleoplasm] (R-HSA-4086071)	0.499	2