S-GGC MRAS T68I [plasma membrane]

Stable Identifier
R-HSA-9660514
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Ras-related protein M-Ras, RASM_HUMAN
Icon
S-GGC MRAS T68I [plasma membrane] icon
S-GGC MRAS T68I [plasma membrane] icon
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
31108500 Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

Cavé, H, Altmüller, F, Lissewski, C, Zenker, M, Chahrokh-Zadeh, S, Coppola, S, Pantaleoni, F, Krumbach, OHF, Peleg, A, Hahn, A, German, A, Ahmadian, MR, Kocherscheid, L, Motta, M, Logeswaran, T, Schanze, D, Sagi-Dain, L, Munzig, A, Nakhaei-Rad, S, Tartaglia, M

Hum. Mol. Genet. 2019
External Reference Information
External Reference
UniProt:O14807 MRAS
Gene Names
MRAS, RRAS3
Chain
chain:1-205, propeptide:206-208
Reference Genes
BioGPS Gene:22808 MRAS
COSMIC (genes):MRAS MRAS
CTD Gene:22808 MRAS
dbSNP Gene:22808 MRAS
ENSEMBL:ENSG00000158186 MRAS
ENSEMBL_homo_sapiens_GENE:ENSG00000158186.13 MRAS
HGNC:7227 MRAS
KEGG Gene (Homo sapiens):22808 MRAS
Monarch:22808 MRAS
NCBI Gene:22808 MRAS
OMIM:608435 MRAS
UCSC:O14807 MRAS
Reference Transcript
Other Identifiers
11716971_a_at
11758360_s_at
11758561_s_at
16946159
206538_PM_at
206538_at
225185_PM_at
225185_at
22808
2644566
2644567
2644568
2644569
2644571
2644589
2644603
2644604
2644610
2644611
2644612
2644613
2644614
2644615
2644616
2644617
38540_at
57217_at
8082965
A_14_P112094
A_14_P112544
A_14_P131120
A_23_P377197
A_24_P88850
GE54384
GO:0000166
GO:0003824
GO:0003924
GO:0003925
GO:0005515
GO:0005525
GO:0005886
GO:0007010
GO:0007165
GO:0007265
GO:0016020
GO:0016787
GO:0019003
GO:0023052
GO:0030036
GO:0030742
GO:0098772
GO:1990830
HMNXSV003047674
Hs.7298.1.A1_3p_at
ILMN_1748881
PH_hs_0016853
TC03000744.hg
Participates
as a member of
Other forms of this molecule
S-GGC MRAS G23R [plasma membrane]
S-GGC MRAS G23V [plasma membrane]
S-GGC MRAS G23D [plasma membrane]
S-GGC MRAS [plasma membrane]
Modified Residues
Name
S-geranylgeranyl-L-cysteine (geranylgeranyl group) at 205
Coordinate
205
Modification
geranylgeranyl group
PsiMod Name
S-geranylgeranyl-L-cysteine [MOD:00113]
PsiMod Definition
A protein modification that effectively converts an L-cysteine residue to S-geranylgeranyl-L-cysteine.
Name
L-threonine 68 replaced with L-isoleucine
Coordinate
68
PsiMod
L-threonine removal [MOD:01647]
A protein modification that effectively removes or replaces an L-threonine.
L-isoleucine residue [MOD:00019]
A protein modification that effectively converts a source amino acid residue to an L-isoleucine.
Disease
Name Identifier Synonyms
Noonan syndrome DOID:3490 Turner's phenotype, karyotype normal (disorder)
Cross References
RefSeq
ClinGen
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
PDB
Cite Us!