RIT1_HUMAN
Source:
PM23856902
Marked as 'Membrane associated protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
RIT1
, RIBB, RIT, ROC1
Protein names and data:
RIT1_HUMAN
, GTP-binding protein Rit1
, Ras-like protein expressed in many tissues; Ras-like without CAAX protein 1
Lenght: 219 a.a.
Mass: 25145 Da
fasta formatted sequence
Function:
Plays a crucial role in coupling NGF stimulation to the activation of both EPHB2 and MAPK14 signaling pathways and in NGF- dependent neuronal differentiation. Involved in ELK1 transactivation through the Ras-MAPK signaling cascade that mediates a wide variety of cellular functions, including cell proliferation, survival, and differentiation.
Disease:
( OMIM:
609591
615355
)
Noonan syndrome 8 (NS8) [MIM:615355]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cell membrane.
Tissue specificity:
Expressed in many tissues.
Genetic variants
35 - 35
S -> T (probable disease-associated mutation found in patients with features of Noonan syndrome). VAR_070149
57 - 57
A -> G (in NS8; results in increased ELK1 transcriptional activation). VAR_070150
81 - 81
E -> G (in NS8; results in increased ELK1 transcriptional activation). VAR_070151
82 - 82
F -> L (in NS8; results in increased ELK1 transcriptional activation). VAR_070152
82 - 82
F -> V (probable disease-associated mutation found in patients with features of Noonan syndrome). VAR_070153
83 - 83
T -> P (probable disease-associated mutation found in patients with features of Noonan syndrome). VAR_070154
89 - 89
Y -> H (probable disease-associated mutation found in patients with features of Noonan syndrome). VAR_070155
90 - 90
M -> I (probable disease-associated mutation found in patients with features of Noonan syndrome). VAR_070156
95 - 95
G -> A (in NS8; results in increased ELK1 transcriptional activation). VAR_070157
Database cross-references
UniProt:
Q92963
Ensembl:
ENST00000368322
Ensembl:
ENST00000368323
Ensembl:
ENST00000539040
MIM:
609591
MIM:
615355
neXtProt:
NX_Q92963
Antibodypedia:
Q92963
(may not find the protein thus also not any antibody)
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