Reactome | MeCP2_e1 K316E [nucleoplasm]

MeCP2_e1 K316E [nucleoplasm]

Stable Identifier

R-HSA-9005586

Type

Genes and Transcripts [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

MECP2B K316E

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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 K304E [nucleoplasm] (Homo sapiens)
        
        MeCP2_e1 K316E [nucleoplasm] (Homo sapiens)

Literature References

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

External Reference Information

External Reference

UniProt:P51608-2 MECP2

Gene Names

MECP2

Participates

as a candidate of

MECP2 K304E [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 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-lysine 316 replaced with L-glutamic acid

Coordinate

316

PsiMod

L-glutamic acid residue [MOD:00015]

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

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

OpenTargets

ENSG00000169057

ENSEMBL

ENST00000303391, ENSP00000395535, ENSP00000301948, ENSG00000169057, ENST00000453960

HPA

ENSG00000169057-MECP2

GeneCards

MECP2

PRO

P51608

Pharos - Targets

P51608

GlyGen

P51608

Orphanet

MECP2

PDB

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

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	monoSUMO1-K32-HIPK2 [nucleoplasm] (R-MMU-4090405) HIPK2 [nucleoplasm] (R-MMU-3215222) phospho-p-HIPK2 [nucleoplasm] (R-MMU-6799375)	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: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: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: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-S552-CTNNB1 [cytosol] (R-HSA-3134933) p-S552-CTNNB1 [nucleoplasm] (R-HSA-3134926) p-Y-CTNNB1 [cytosol] (R-HSA-8876940)	0.556	3
UniProt:Q12824 SMARCB1	1	SMARCB1 [nucleoplasm] (R-HSA-389261)	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:P42858 HTT	1	HTT [nucleoplasm] (R-HSA-9023590)	0.556	18
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:P07196 NEFL	1	NEFL [cytosol] (R-HSA-432284)	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:O15379 HDAC3	2	HDAC3 [nucleoplasm] (R-HSA-442464) Unfolded HDAC3 [cytosol] (R-HSA-6813777)	0.527	3
UniProt:Q9BZK7 TBL1XR1	1	TBL1XR1 [nucleoplasm] (R-HSA-351643)	0.527	3
UniProt:Q9HD42 CHMP1A	1	CHMP1A [cytosol] (R-HSA-917721)	0.527	2
UniProt:P62241 RPS8	2	RPS8 [cytosol] (R-HSA-72385) RPS8 [nucleoplasm] (R-HSA-6791203)	0.527	3
UniProt:Q9NW13 RBM28	1	RBM28 [nucleoplasm] (R-HSA-6791192)	0.527	3
UniProt:P54132 BLM	2	BLM [nucleoplasm] (R-HSA-174881) 4SUMO2,3-BLM [nucleoplasm] (R-HSA-4568883)	0.527	2
UniProt:Q96RR1 TWNK	1	TWNK [mitochondrial matrix] (R-HSA-1592222)	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: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:Q9Y3T9 NOC2L	1	NOC2L [nucleoplasm] (R-HSA-3222129)	0.527	3
UniProt:Q8WVM0 TFB1M	1	TFB1M [mitochondrial matrix] (R-HSA-1592207)	0.527	2
UniProt:Q9H5J8 TAF1D	1	TAF1D [nucleoplasm] (R-HSA-5138533)	0.527	2
UniProt:O43159 RRP8	1	RRP8 [nucleoplasm] (R-HSA-427524)	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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