MECP2_e1 R145H [nucleoplasm]

Stable Identifier
R-HSA-9022479
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MECP2B R145H
Locations in the PathwayBrowser
Expand all
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_s_at
202617_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:0000785
GO:0000792
GO:0001227
GO:0001662
GO:0001666
GO:0001964
GO:0001976
GO:0002087
GO:0003013
GO:0003674
GO:0003677
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:0005739
GO:0005813
GO:0005815
GO:0005829
GO:0005856
GO:0005975
GO:0006020
GO:0006091
GO:0006122
GO:0006259
GO:0006342
GO:0006349
GO:0006355
GO:0006367
GO:0006464
GO:0006520
GO:0006541
GO:0006576
GO:0006629
GO:0006810
GO:0006950
GO:0007010
GO:0007049
GO:0007052
GO:0007165
GO:0007267
GO:0007268
GO:0007416
GO:0007420
GO:0007585
GO:0007612
GO:0007613
GO:0007616
GO:0007626
GO:0008104
GO:0008134
GO:0008150
GO:0008211
GO:0008219
GO:0008283
GO:0008284
GO:0008327
GO:0008344
GO:0008542
GO:0009058
GO:0009314
GO:0009405
GO:0009791
GO:0010385
GO:0010468
GO:0010629
GO:0010971
GO:0016358
GO:0016525
GO:0016571
GO:0016573
GO:0019230
GO:0019233
GO:0019904
GO:0021549
GO:0021591
GO:0021700
GO:0022607
GO:0030154
GO:0030182
GO:0031175
GO:0032048
GO:0033555
GO:0034641
GO:0035176
GO:0035197
GO:0040011
GO:0040029
GO:0042551
GO:0043226
GO:0043524
GO:0043537
GO:0044281
GO:0045202
GO:0045892
GO:0045893
GO:0046470
GO:0047485
GO:0048167
GO:0048646
GO:0048856
GO:0048870
GO:0050432
GO:0050877
GO:0050884
GO:0050905
GO:0051151
GO:0051276
GO:0060079
GO:0060291
GO:0065003
GO:0090063
GO:0098794
GO:1900114
GO:1905643
GO:2000820
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
Participant Of
hasCandidate
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 [nucleoplasm]
p-S92-MECP2_e1 [nucleoplasm]
p-T320-MeCP2_e1 [nucleoplasm]
p-S435-MECP2_e1 [nucleoplasm]
MeCP2_e1 R318H [nucleoplasm]
MeCP2_e1 R318C [nucleoplasm]
Modified Residues
Name
L-arginine 145 replaced with L-histidine
Coordinate
145
PsiMod
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
Rett syndrome 1206 Rett's disorder, cerebroatrophic hyperammonemia
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Orphanet
PDB
Interactors (6)
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