IF4G1_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
EIF4G1
, EIF4F, EIF4G, EIF4GI
Protein names and data:
IF4G1_HUMAN
, Eukaryotic translation initiation factor 4 gamma 1; eIF-4-gamma 1; eIF-4G 1; eIF-4G1
, p220
Lenght: 1599 a.a.
Mass: 175491 Da
fasta formatted sequence
Function:
Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome.
Disease:
( OMIM:
600495
614251
)
Parkinson disease 18 (PARK18) [MIM:614251]: An autosomal dominant, late-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
71 - 71
P -> S (in dbSNP:rs113810947). VAR_066571
113810947
161 - 161
T -> A (in dbSNP:rs13319149). VAR_061147
13319149
311 - 311
Y -> C (in dbSNP:rs16858632). VAR_055704
16858632
432 - 432
M -> V (in dbSNP:rs2178403). VAR_063040
2178403
466 - 468
Missing. VAR_066572
502 - 502
A -> V (in PARK18; dbSNP:rs111290936). VAR_066573
111290936
686 - 686
G -> C (found in patients with Parkinson disease; dbSNP:rs112019125). VAR_066574
112019125
696 - 696
P -> L (in a colorectal cancer sample; somatic mutation). VAR_036117
806 - 806
I -> V (in dbSNP:rs62287499). VAR_066575
62287499
829 - 829
T -> S (in dbSNP:rs111500185). VAR_066576
111500185
1164 - 1164
S -> R (found in a patient with Parkinson disease; dbSNP:rs113169049). VAR_066577
113169049
1197 - 1197
R -> W (found in a patient with Parkinson disease; dbSNP:rs113388242). VAR_066578
113388242
1205 - 1205
R -> H (in PARK18; dbSNP:rs112176450). VAR_066579
112176450
1229 - 1229
P -> A (in dbSNP:rs35629949). VAR_061148
35629949
1233 - 1233
L -> P (in dbSNP:rs2230570). VAR_055705
2230570
1257 - 1257
N -> S (in dbSNP:rs73053766). VAR_066580
73053766
Database cross-references
UniProt:
Q04637
Ensembl:
ENST00000319274
Ensembl:
ENST00000342981
Ensembl:
ENST00000346169
Ensembl:
ENST00000350481
Ensembl:
ENST00000352767
Ensembl:
ENST00000382330
Ensembl:
ENST00000392537
Ensembl:
ENST00000414031
Ensembl:
ENST00000424196
Ensembl:
ENST00000434061
Ensembl:
ENST00000435046
MIM:
600495
MIM:
614251
neXtProt:
NX_Q04637
Antibodypedia:
Q04637
(may not find the protein thus also not any antibody)
Local full text data:
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