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MECP2_e1 R145H [nucleoplasm]
Stable Identifier
R-HSA-9022479
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MECP2B R145H
Icon
Locations in the PathwayBrowser
Expand all
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 5hmC-DNA (Homo sapiens)
MECP2 mutants R133C ,D121G, R133H and S134F do not bind 5hmC-DNA (Homo sapiens)
MECP2 R133C,MECP2 D121G,MECP2 R133H,MECP2 S134F [nucleoplasm] (Homo sapiens)
MECP2 R106W, MECP2 D121G,MECP2 R133H,MECP2S134F,MECP2 T158M/A [nucleoplasm] (Homo sapiens)
MECP2 R133H [nucleoplasm] (Homo sapiens)
MECP2_e1 R145H [nucleoplasm] (Homo sapiens)
Loss of MECP2 binding ability to 5mC-DNA (Homo sapiens)
MECP2 mutants R106W, D121G, R133H, S134F, T158M and T158A do not bind to 5mC-DNA (Homo sapiens)
MECP2 R106W, MECP2 D121G,MECP2 R133H,MECP2S134F,MECP2 T158M/A [nucleoplasm] (Homo sapiens)
MECP2 R133H [nucleoplasm] (Homo sapiens)
MECP2_e1 R145H [nucleoplasm] (Homo sapiens)
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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