RASK_HUMAN
Source:
hRBCD
; ID:
IPI00423570
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:
KRAS
, KRAS2, RASK2
Protein names and data:
RASK_HUMAN
, GTPase KRas
, K-Ras 2; Ki-Ras; c-K-ras; c-Ki-ras; GTPase KRas, N-terminally processed; Flags: Precursor
Lenght: 189 a.a.
Mass: 21656 Da
fasta formatted sequence
Function:
Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
Disease:
( OMIM:
190070
601626
607785
609942
613659
615278
)
Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. Note=The disease is caused by mutations affecting the gene represented in this entry. 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 3 (NS3) [MIM:609942]: 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. Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. Note=The disease is caused by mutations affecting the gene represented in this entry. Note=Defects in KRAS are a cause of pylocytic astrocytoma (PA). Pylocytic astrocytomas are neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1. Note=The disease is caused by mutations affecting the gene represented in this entry. Note=KRAS mutations are involved in cancer development.
Cellular location:
Cell membrane; Lipid-anchor; Cytoplasmic side.
Genetic variants
5 - 5
K -> E (in NS3). VAR_065144
5 - 5
K -> N (in GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild- type protein). VAR_064849
10 - 10
G -> GG (in one individual with AML; expression in 3T3 cell causes cellular transformation; expression in COS cells activates the Ras-MAPK signaling pathway; lower GTPase activity; faster GDP dissociation rate). VAR_034601
12 - 12
G -> A (in a colorectal cancer sample; somatic mutation). VAR_036305
12 - 12
G -> C (in lung carcinoma; somatic mutation). VAR_006839
12 - 12
G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). VAR_016026
12 - 12
G -> R (in lung cancer and bladder cancer; somatic mutation). VAR_016027
12 - 12
G -> S (in lung carcinoma and GASC; somatic mutation). VAR_016028
12 - 12
G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). VAR_006840
13 - 13
G -> D (in a breast carcinoma cell line and GASC; somatic mutation). VAR_016029
13 - 13
G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). VAR_065145
14 - 14
V -> I (in NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor- catalyzed nucleotide exchange leading to an increased level of the activated state). VAR_026109
22 - 22
Q -> E (in CFC2; exhibits an increase in intrinsic and guanine nucleotide exchange factor catalyzed nucleotide exchange in combination with an impaired GTPase- activating protein-stimulated GTP hydrolysis but functional in interaction with effectors). VAR_064850
22 - 22
Q -> R (in NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction). VAR_064851
34 - 34
P -> L (in NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors). VAR_064852
34 - 34
P -> Q (in NS3). VAR_064853
34 - 34
P -> R (in CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors). VAR_026110
36 - 36
I -> M (in NS3). VAR_064854
58 - 58
T -> I (in NS3; affects activity and impairs responsiveness to GTPase activating proteins; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein). VAR_026111
59 - 59
A -> T (in bladder cancer and GASC; somatic mutation). VAR_016030
60 - 60
G -> R (in CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors). VAR_026112
60 - 60
G -> S (in NS3). VAR_065146
61 - 61
Q -> H (in lung carcinoma; dbSNP:rs17851045). VAR_006841
17851045
61 - 61
Q -> R (in a colorectal cancer sample; somatic mutation). VAR_036306
71 - 71
Y -> H (in CFC2). VAR_069784
117 - 117
K -> N (in a colorectal cancer sample; somatic mutation). VAR_036307
146 - 146
A -> T (in a colorectal cancer sample; somatic mutation). VAR_036308
147 - 147
K -> E (in CFC2). VAR_069785
Database cross-references
UniProt:
P01116
Ensembl:
ENST00000256078
Ensembl:
ENST00000311936
MIM:
190070
MIM:
601626
MIM:
607785
MIM:
609942
MIM:
613659
MIM:
615278
neXtProt:
NX_P01116
Antibodypedia:
P01116
(may not find the protein thus also not any antibody)
Local full text data:
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