Homo sapiens Protein: HRAS
Summary
InnateDB Protein IDBP-16882.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HRAS
Protein Name v-Ha-ras Harvey rat sarcoma viral oncogene homolog
Synonyms C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO; H-RASIDX; HAMSV; HRAS1; p21ras; RASH1;
Species Homo sapiens
Ensembl Protein ENSP00000309845
InnateDB Gene IDBG-16878 (HRAS)
Protein Structure
UniProt Annotation
Function Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. {ECO:0000269PubMed:12740440, ECO:0000269PubMed:14500341, ECO:0000269PubMed:9020151}.
Subcellular Localization 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. {ECO:0000250}.Isoform 2: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Note=Colocalizes with GNB2L1 to the perinuclear region.
Disease Associations 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. {ECO:0000269PubMed:16170316, ECO:0000269PubMed:16329078, ECO:0000269PubMed:16443854, ECO:0000269PubMed:17054105, ECO:0000269PubMed:18039947, ECO:0000269PubMed:18247425, ECO:0000269PubMed:19995790}. 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. {ECO:0000269PubMed:17412879}. 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. {ECO:0000269PubMed:12727991}. 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. {ECO:0000269PubMed:22683711}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. {ECO:0000269PubMed:14500341}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 132 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.
Experimentally validated
Total 132 [view]
Protein-Protein 128 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 4 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 17 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0008022 protein C-terminus binding
GO:0015093 ferrous iron transmembrane transporter activity
Biological Process
GO:0000165 MAPK cascade
GO:0000186 activation of MAPKK activity
GO:0001934 positive regulation of protein phosphorylation
GO:0006184 GTP catabolic process
GO:0006935 chemotaxis
GO:0007050 cell cycle arrest
GO:0007093 mitotic cell cycle checkpoint
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007264 small GTPase mediated signal transduction
GO:0007265 Ras protein signal transduction
GO:0007268 synaptic transmission
GO:0007411 axon guidance
GO:0007596 blood coagulation
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0008286 insulin receptor signaling pathway
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0009887 organ morphogenesis
GO:0010629 negative regulation of gene expression
GO:0015031 protein transport
GO:0015684 ferrous iron transport
GO:0030335 positive regulation of cell migration
GO:0032855 positive regulation of Rac GTPase activity
GO:0034259 negative regulation of Rho GTPase activity
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0043406 positive regulation of MAP kinase activity
GO:0043410 positive regulation of MAPK cascade
GO:0045087 innate immune response (InnateDB)
GO:0045740 positive regulation of DNA replication
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046330 positive regulation of JNK cascade
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0050679 positive regulation of epithelial cell proliferation
GO:0050900 leukocyte migration
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0090303 positive regulation of wound healing
GO:0090398 cellular senescence
GO:1900029 positive regulation of ruffle assembly
GO:2000251 positive regulation of actin cytoskeleton reorganization
GO:2000630 positive regulation of miRNA metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0048471 perinuclear region of cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR000795 Elongation factor, GTP-binding domain
IPR001806 Small GTPase superfamily
IPR003578 Small GTPase superfamily, Rho type
IPR003579 Small GTPase superfamily, Rab type
IPR005225 Small GTP-binding protein domain
IPR006689 Small GTPase superfamily, ARF/SAR type
IPR011619 Ferrous iron transport protein B, N-terminal
IPR013684 Mitochondrial Rho-like
IPR020849 Small GTPase superfamily, Ras type
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00009
PF00071
PF00025
PF02421
PF08477
PRINTS PR00315
PR00449
PR00328
PIRSF
SMART SM00174
SM00175
SM00173
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P01112
PhosphoSite PhosphoSite-P01112
TrEMBL X5D945
UniProt Splice Variant
Entrez Gene 3265
UniGene Hs.37003
RefSeq
HUGO HGNC:5173
OMIM 190020
CCDS CCDS7698
HPRD 01813
IMGT
EMBL AB451336 AB451485 AF285779 AF493916 AJ437024 BC006499 BC095471 BT019421 CH471158 CR536579 CR542271 EF015887 EF685661 EF685662 J00277 JQ248012 KJ534867 KJ534868 M17232 M19990 S68580
GenPept AAA35685 AAA52693 AAB02605 AAB29639 AAF91482 AAH06499 AAH95471 AAM12630 AAV38228 ABI97389 ABS10683 ABS10684 AFF18187 AHW56507 AHW56508 BAG70150 BAG70299 CAD24594 CAG38816 CAG47067 EAX02337 EAX02338 EAX02339 EAX02340 EAX02341