RASH_HUMAN
Source:
PM23856902
PM22954596
Marked as 'Membrane associated protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
HRAS
, HRAS1
Protein names and data:
RASH_HUMAN
, GTPase HRas
, H-Ras-1; Ha-Ras; Transforming protein p21; c-H-ras; p21ras; GTPase HRas, N-terminally processed; Flags: Precursor
Lenght: 189 a.a.
Mass: 21298 Da
fasta formatted sequence
Function:
Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
Disease:
( OMIM:
109800
163200
190020
218040
607464
)
Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]: A rare condition characterized by prenatally increased growth, postnatal growth deficiency, mental retardation, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry. Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]: Variant of Costello syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry. Hurthle cell thyroid carcinoma (HCTC) [MIM:607464]: A rare type of thyroid cancer accounting for only about 3-10% of all differentiated thyroid cancers. These neoplasms are considered a variant of follicular carcinoma of the thyroid and are referred to as follicular carcinoma, oxyphilic type. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Note=Mutations which change positions 12, 13 or 61 activate the potential of HRAS to transform cultured cells and are implicated in a variety of human tumors. Bladder cancer (BLC) [MIM:109800]: A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Note=Defects in HRAS are the cause of oral squamous cell carcinoma (OSCC). Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200]: A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cell membrane. Cell membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus. Golgi apparatus membrane; Lipid-anchor. Note=The active GTP-bound form is localized most strongly to membranes than the inactive GDP-bound form (By similarity). Shuttles between the plasma membrane and the Golgi apparatus. Isoform 2: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Note=Colocalizes with GNB2L1 to the perinuclear region.
Tissue specificity:
Widely expressed.
Genetic variants
12 - 12
G -> A (in FCSS). VAR_026106
12 - 12
G -> C (in FCSS). VAR_045975
12 - 12
G -> D (in FCSS; severe mutation). VAR_068816
12 - 12
G -> E (in FCSS). VAR_045976
12 - 12
G -> S (in FCSS, OSCC and CMEMS). VAR_006837
12 - 12
G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). VAR_006836
13 - 13
G -> C (in FCSS). VAR_026107
13 - 13
G -> D (in FCSS). VAR_026108
13 - 13
G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). VAR_068817
22 - 22
Q -> K (in CMEMS). VAR_045977
37 - 37
E -> EE (in FCSS). VAR_068818
58 - 58
T -> I (in FCSS). VAR_045978
61 - 61
Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). VAR_045979
28933406
61 - 61
Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). VAR_006838
63 - 63
E -> K (in CMEMS). VAR_045980
117 - 117
K -> R (in FCSS). VAR_045981
146 - 146
A -> T (in FCSS). VAR_045982
146 - 146
A -> V (in FCSS). VAR_045983
Database cross-references
UniProt:
P01112
Ensembl:
ENST00000311189
Ensembl:
ENST00000397594
Ensembl:
ENST00000397596
Ensembl:
ENST00000417302
Ensembl:
ENST00000451590
Ensembl:
ENST00000493230
MIM:
109800
MIM:
163200
MIM:
190020
MIM:
218040
MIM:
607464
neXtProt:
NX_P01112
Antibodypedia:
P01112
(may not find the protein thus also not any antibody)
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