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MECP2_e2 T158A [nucleoplasm]
Stable Identifier
R-HSA-9023416
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MECP2A T158A
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 T158M/A [nucleoplasm] (Homo sapiens)
MECP2 T158A [nucleoplasm] (Homo sapiens)
MECP2_e2 T158A [nucleoplasm] (Homo sapiens)
Loss of MECP2 binding ability to 5mC-DNA (Homo sapiens)
MECP2 T158A:SIN3A complex does not bind BDNF gene promoter (Homo sapiens)
MECP2 T158A:SIN3A:HDAC1 [nucleoplasm] (Homo sapiens)
MECP2 T158A [nucleoplasm] (Homo sapiens)
MECP2_e2 T158A [nucleoplasm] (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 T158M/A [nucleoplasm] (Homo sapiens)
MECP2 T158A [nucleoplasm] (Homo sapiens)
MECP2_e2 T158A [nucleoplasm] (Homo sapiens)
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
4027080
4027081
4027090
4027091
4027092
4204
8175977
8175998
A_23_P114361
A_24_P237486
A_33_P3317211
A_33_P3339036
GE54240
GO:0000122
GO:0000400
GO:0000785
GO:0000792
GO:0001662
GO:0001666
GO:0001964
GO:0001976
GO:0002087
GO:0003013
GO:0003016
GO:0003676
GO:0003677
GO:0003682
GO:0003714
GO:0003723
GO:0003729
GO:0005515
GO:0005576
GO:0005615
GO:0005634
GO:0005654
GO:0005694
GO:0005737
GO:0005813
GO:0005815
GO:0005829
GO:0005856
GO:0005975
GO:0006020
GO:0006325
GO:0006351
GO:0006355
GO:0006357
GO:0006520
GO:0006541
GO:0006576
GO:0006629
GO:0007010
GO:0007018
GO:0007219
GO:0007268
GO:0007416
GO:0007420
GO:0007507
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:0010212
GO:0010288
GO:0010385
GO:0010467
GO:0010468
GO:0010628
GO:0010629
GO:0012501
GO:0014003
GO:0014009
GO:0014070
GO:0016358
GO:0016525
GO:0019230
GO:0019233
GO:0019899
GO:0019904
GO:0021510
GO:0021549
GO:0021591
GO:0021740
GO:0021756
GO:0021766
GO:0021772
GO:0021794
GO:0021987
GO:0023052
GO:0030154
GO:0030182
GO:0031047
GO:0031175
GO:0031490
GO:0031507
GO:0031915
GO:0032048
GO:0032355
GO:0032991
GO:0033555
GO:0034330
GO:0035176
GO:0035197
GO:0035865
GO:0036211
GO:0040029
GO:0042220
GO:0042551
GO:0042802
GO:0042826
GO:0043226
GO:0043524
GO:0043537
GO:0044027
GO:0044030
GO:0045322
GO:0045892
GO:0045893
GO:0045944
GO:0046470
GO:0048167
GO:0048286
GO:0048709
GO:0048712
GO:0048856
GO:0048870
GO:0050432
GO:0050807
GO:0050877
GO:0050884
GO:0050905
GO:0051151
GO:0051570
GO:0051707
GO:0060079
GO:0060090
GO:0060252
GO:0060291
GO:0060999
GO:0061000
GO:0065003
GO:0071317
GO:0071514
GO:0090063
GO:0090327
GO:0098794
GO:0098978
GO:0099191
GO:0099611
GO:0140110
GO:0140566
GO:0140693
GO:1901953
GO:1901956
GO:1903860
GO:1903861
GO:1903941
GO:1905492
GO:1990841
GO:2000635
HMNXSV003006762
HMNXSV003039744
HMNXSV003048644
Hs.3239.0.S2_3p_a_at
ILMN_1702715
PH_hs_0000399
TC0X001524.hg
X89430_at
X94628_rna1_s_at
g7710148_3p_a_at
g972764_3p_a_at
Participates
as a member of
MECP2 T158A [nucleoplasm] (Homo sapiens)
Other forms of this molecule
MECP2_e2 R133C [nucleoplasm]
MECP2_e2 D121G [nucleoplasm]
MECP2_e2 R133H [nucleoplasm]
MECP2_e2 R106W [nucleoplasm]
MECP2_e2 T158M [nucleoplasm]
MECP2_e2 S134F [nucleoplasm]
MECP2_e2 K305R [nucleoplasm]
MECP2_e2 P302R [nucleoplasm]
MECP2_e2 K304E [nucleoplasm]
MECP2_e2 R306C [nucleoplasm]
MECP2_e2 R306H [nucleoplasm]
MECP2_e2 [nucleoplasm]
p-S80-MECP2_e2 [nucleoplasm]
p-T308-MECP2_e2 [nucleoplasm]
p-S423-MECP2_e2 [nucleoplasm]
Modified Residues
Name
L-threonine 158 replaced with L-alanine
Coordinate
158
PsiMod
L-alanine residue [MOD:00010]
A protein modification that effectively converts a source amino acid residue to an L-alanine.
L-threonine removal [MOD:01647]
A protein modification that effectively removes or replaces an L-threonine.
Disease
Name
Identifier
Synonyms
Rett syndrome
DOID:1206
Rett's disorder, cerebroatrophic hyperammonemia
Cross References
RefSeq
NP_004983.1
,
NP_001303266.1
,
NP_001104262.1
OpenTargets
ENSG00000169057
HPA
ENSG00000169057-MECP2
GeneCards
P51608
Ensembl
ENSP00000301948
,
ENSG00000169057
,
ENSP00000395535
,
ENST00000453960
,
ENST00000303391
PRO
P51608
Pharos - Targets
P51608
Orphanet
16388
PDB
3C2I
,
6OGJ
,
6OGK
,
6C1Y
,
6YWW
,
5BT2
,
1QK9
,
8AJR
,
8ALQ
Interactors (29)
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 [plasma membrane]
(R-HSA-9762382)
lysyl-G97-SUMO1 [nucleolus]
(R-HSA-9762385)
lysyl-G97-SUMO1 [viral capsid]
(R-HSA-9762386)
UBE2I-G97-SUMO1 [cytosol]
(R-HSA-4656941)
lysyl-G97-SUMO1 [endoplasmic reticulum-Golgi intermediate compartment membrane]
(R-HSA-9762380)
lysyl-G97-SUMO1 [cytosol]
(R-HSA-9762266)
UBE2I-G97-SUMO1 [nucleoplasm]
(R-HSA-3730622)
UBA2-G97-SUMO1 [nucleoplasm]
(R-HSA-3730616)
SUMO1 [nucleoplasm]
(R-HSA-877304)
SUMO1(2-101) [nucleoplasm]
(R-HSA-2990831)
lysyl-G97-SUMO1 [nucleoplasm]
(R-HSA-9761562)
0.564
2
UniProt:Q96CV9 OPTN
6
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)
p-S177,S473,S513-OPTN [cytosol]
(R-HSA-9687840)
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: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: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:O75925 PIAS1
1
PIAS1 [nucleoplasm]
(R-HSA-877307)
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:P42858 HTT
1
HTT [nucleoplasm]
(R-HSA-9023590)
0.556
18
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-Y397-LYN [plasma membrane]
(R-HSA-2454229)
MyrG2-PalmC3-LYN [plasma membrane]
(R-HSA-9606875)
LYN [cytosol]
(R-HSA-354251)
0.556
3
UniProt:P07196 NEFL
1
NEFL [cytosol]
(R-HSA-432284)
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:Q9Y3T9 NOC2L
1
NOC2L [nucleoplasm]
(R-HSA-3222129)
0.527
3
UniProt:P62241 RPS8
2
RPS8 [nucleoplasm]
(R-HSA-6791203)
RPS8 [cytosol]
(R-HSA-72385)
0.527
3
UniProt:Q8WVM0 TFB1M
1
TFB1M [mitochondrial matrix]
(R-HSA-1592207)
0.527
2
UniProt:Q9HD42 CHMP1A
1
CHMP1A [cytosol]
(R-HSA-917721)
0.527
2
UniProt:P54132 BLM
2
4SUMO2,3-BLM [nucleoplasm]
(R-HSA-4568883)
BLM [nucleoplasm]
(R-HSA-174881)
0.527
2
UniProt:O43159 RRP8
1
RRP8 [nucleoplasm]
(R-HSA-427524)
0.527
3
UniProt:Q9NW13 RBM28
1
RBM28 [nucleoplasm]
(R-HSA-6791192)
0.527
3
UniProt:P19525 EIF2AK2
5
p-EIF2AK2 [nucleoplasm]
(R-HSA-9836332)
SUMO-EIF2AK2 [cytosol]
(R-HSA-9834829)
ISG15-EIF2AK2 [cytosol]
(R-HSA-9833968)
p-EIF2AK2 [cytosol]
(R-HSA-9833834)
EIF2AK2 [cytosol]
(R-HSA-168699)
0.527
2
UniProt:Q96RR1 TWNK
1
TWNK [mitochondrial matrix]
(R-HSA-1592222)
0.527
3
UniProt:P62917 RPL8
3
3OHH216-RPL8 [nucleoplasm]
(R-HSA-9630976)
RPL8 [nucleoplasm]
(R-HSA-9630985)
RPL8 [cytosol]
(R-HSA-72490)
0.527
3
UniProt:Q9H5J8 TAF1D
1
TAF1D [nucleoplasm]
(R-HSA-5138533)
0.527
2
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:Q8BHJ5 Tbl1xr1
1
Tbl1xr1 [nucleoplasm]
(R-MMU-2064254)
0.525
4
UniProt:Q96ST3 SIN3A
2
SIN3A [nucleoplasm]
(R-HSA-351657)
monoSUMO1-SIN3A [nucleoplasm]
(R-HSA-4086071)
0.499
2
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