RASN_HUMAN
Source:
hRBCD
; ID:
IPI00000005
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Membrane associated protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
NRAS
, HRAS1
Protein names and data:
RASN_HUMAN
, GTPase NRas
, Transforming protein N-Ras; Flags: Precursor
Lenght: 189 a.a.
Mass: 21229 Da
fasta formatted sequence
Function:
Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
Disease:
( OMIM:
164790
607785
613224
614470
)
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The disease is caused by mutations affecting the gene represented in this entry. Noonan syndrome 6 (NS6) [MIM:613224]: 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. Autoimmune lymphoproliferative syndrome 4 (ALPS4) [MIM:614470]: A disorder of apoptosis, characterized by chronic accumulation of non-malignant lymphocytes, defective lymphocyte apoptosis, and an increased risk for the development of hematologic malignancies. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cell membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus membrane; Lipid-anchor. Note=Shuttles between the plasma membrane and the Golgi apparatus.
Genetic variants
12 - 12
G -> C (in leukemia). VAR_021194
13 - 13
G -> D (in ALPS4). VAR_063084
13 - 13
G -> R (in colorectal cancer). VAR_006845
50 - 50
T -> I (in NS6; hypermorphic mutation). VAR_063085
60 - 60
G -> E (in NS6; hypermorphic mutation). VAR_063086
61 - 61
Q -> K (in neuroblastoma cell). VAR_006846
61 - 61
Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). VAR_006847
11554290
Database cross-references
UniProt:
P01111
Ensembl:
ENST00000369535
MIM:
164790
MIM:
607785
MIM:
613224
MIM:
614470
neXtProt:
NX_P01111
Antibodypedia:
P01111
(may not find the protein thus also not any antibody)
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