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P01116

- RASK_HUMAN

UniProt

P01116 - RASK_HUMAN

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Protein
GTPase KRas
Gene
KRAS, KRAS2, RASK2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.

Enzyme regulationi

Alternates between an inactive form bound to GDP and an active form bound to GTP. Activated by a guanine nucleotide-exchange factor (GEF) and inactivated by a GTPase-activating protein (GAP).

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi10 – 178GTP
Nucleotide bindingi57 – 615GTP
Nucleotide bindingi116 – 1194GTP

GO - Molecular functioni

  1. GDP binding Source: Ensembl
  2. GMP binding Source: Ensembl
  3. GTP binding Source: UniProtKB-KW
  4. protein binding Source: IntAct
  5. protein complex binding Source: MGI

GO - Biological processi

  1. Fc-epsilon receptor signaling pathway Source: Reactome
  2. GTP catabolic process Source: InterPro
  3. MAPK cascade Source: Reactome
  4. Ras protein signal transduction Source: Reactome
  5. actin cytoskeleton organization Source: Ensembl
  6. activation of MAPKK activity Source: Reactome
  7. axon guidance Source: Reactome
  8. blood coagulation Source: Reactome
  9. cytokine-mediated signaling pathway Source: Ensembl
  10. epidermal growth factor receptor signaling pathway Source: Reactome
  11. fibroblast growth factor receptor signaling pathway Source: Reactome
  12. innate immune response Source: Reactome
  13. insulin receptor signaling pathway Source: Reactome
  14. leukocyte migration Source: Reactome
  15. negative regulation of neuron apoptotic process Source: Ensembl
  16. neurotrophin TRK receptor signaling pathway Source: Reactome
  17. positive regulation of MAP kinase activity Source: Ensembl
  18. positive regulation of NF-kappaB transcription factor activity Source: Ensembl
  19. positive regulation of Rac protein signal transduction Source: Ensembl
  20. positive regulation of cell proliferation Source: Ensembl
  21. positive regulation of gene expression Source: BHF-UCL
  22. positive regulation of nitric-oxide synthase activity Source: Ensembl
  23. positive regulation of protein phosphorylation Source: BHF-UCL
  24. regulation of long-term neuronal synaptic plasticity Source: Ensembl
  25. regulation of synaptic transmission, GABAergic Source: Ensembl
  26. response to glucocorticoid Source: Ensembl
  27. response to mineralocorticoid Source: Ensembl
  28. small GTPase mediated signal transduction Source: Reactome
  29. social behavior Source: Ensembl
  30. striated muscle cell differentiation Source: Ensembl
  31. visual learning Source: Ensembl
Complete GO annotation...

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_111040. Signaling by SCF-KIT.
REACT_115852. Signaling by constitutively active EGFR.
REACT_115854. GRB2 events in ERBB2 signaling.
REACT_115993. SHC1 events in ERBB2 signaling.
REACT_116005. SHC1 events in ERBB4 signaling.
REACT_118778. Activation of RAS in B cells.
REACT_12033. Signalling to RAS.
REACT_12065. p38MAPK events.
REACT_121096. EGFR Transactivation by Gastrin.
REACT_121398. Signaling by FGFR mutants.
REACT_12579. SHC1 events in EGFR signaling.
REACT_12606. GRB2 events in EGFR signaling.
REACT_12621. Tie2 Signaling.
REACT_147814. DAP12 signaling.
REACT_163701. FCERI mediated MAPK activation.
REACT_17025. Downstream signal transduction.
REACT_18334. NCAM signaling for neurite out-growth.
REACT_2077. RAF activation.
REACT_21247. FRS2-mediated cascade.
REACT_21374. SHC-mediated cascade.
REACT_524. SOS-mediated signalling.
REACT_614. RAF phosphorylates MEK.
REACT_661. SHC-mediated signalling.
REACT_962. MEK activation.
SignaLinkiP01116.

Names & Taxonomyi

Protein namesi
Recommended name:
GTPase KRas
Alternative name(s):
K-Ras 2
Ki-Ras
c-K-ras
c-Ki-ras
Cleaved into the following chain:
Gene namesi
Name:KRAS
Synonyms:KRAS2, RASK2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:6407. KRAS.

Subcellular locationi

GO - Cellular componenti

  1. membrane raft Source: Ensembl
  2. mitochondrion Source: Ensembl
  3. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101G → 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. 1 Publication
VAR_034601
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.6 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51K → E in NS3. 1 Publication
VAR_065144
Natural varianti14 – 141V → 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. 3 Publications
VAR_026109
Natural varianti22 – 221Q → R in NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction. 2 Publications
VAR_064851
Natural varianti34 – 341P → L in NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors. 2 Publications
VAR_064852
Natural varianti34 – 341P → Q in NS3. 1 Publication
VAR_064853
Natural varianti36 – 361I → M in NS3. 1 Publication
VAR_064854
Natural varianti58 – 581T → 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. 3 Publications
VAR_026111
Natural varianti60 – 601G → S in NS3. 1 Publication
VAR_065146
Isoform 2B (identifier: P01116-2)
Natural varianti152 – 1521V → G in NS3.
Natural varianti153 – 1531D → V in CFC2 and NS3, exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein.
Natural varianti156 – 1561F → I in NS3/CFC2.
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.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51K → 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. 3 Publications
VAR_064849
Natural varianti12 – 121G → D in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation. 4 Publications
VAR_016026
Natural varianti12 – 121G → S in lung carcinoma and GASC; somatic mutation. 3 Publications
VAR_016028
Natural varianti12 – 121G → V in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated. 7 Publications
VAR_006840
Natural varianti13 – 131G → D in a breast carcinoma cell line and GASC; somatic mutation. 3 Publications
VAR_016029
Natural varianti59 – 591A → T in bladder cancer and GASC; somatic mutation. 2 Publications
VAR_016030
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.1 Publication
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.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221Q → 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. 2 Publications
VAR_064850
Natural varianti34 – 341P → R in CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors. 2 Publications
VAR_026110
Natural varianti60 – 601G → R in CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors. 2 Publications
VAR_026112
Natural varianti71 – 711Y → H in CFC2. 1 Publication
VAR_069784
Natural varianti147 – 1471K → E in CFC2. 1 Publication
VAR_069785
Isoform 2B (identifier: P01116-2)
Natural varianti153 – 1531D → V in CFC2 and NS3, exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein.
Natural varianti156 – 1561F → I in NS3/CFC2.
KRAS mutations are involved in cancer development.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi164 – 1641R → A: Loss of GTP-binding activity.

Keywords - Diseasei

Cardiomyopathy, Deafness, Disease mutation, Ectodermal dysplasia, Mental retardation, Proto-oncogene

Organism-specific databases

MIMi601626. phenotype.
607785. phenotype.
609942. phenotype.
613659. phenotype.
615278. phenotype.
Orphaneti1340. Cardiofaciocutaneous syndrome.
3071. Costello syndrome.
1333. Familial pancreatic carcinoma.
144. Hereditary nonpolyposis colon cancer.
86834. Juvenile myelomonocytic leukemia.
2612. Linear nevus sebaceus syndrome.
648. Noonan syndrome.
251612. Pilocytic astrocytoma.
357194. Selection of therapeutic option in colorectal cancer.
357191. Selection of therapeutic option in non-small cell lung carcinoma.
PharmGKBiPA30196.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 186186GTPase KRas
PRO_0000082641Add
BLAST
Initiator methioninei1 – 11Removed; alternate1 Publication
Chaini2 – 186185GTPase KRas, N-terminally processed
PRO_0000326480Add
BLAST
Propeptidei187 – 1893Removed in mature form
PRO_0000281291

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine; in GTPase KRas; alternate1 Publication
Modified residuei2 – 21N-acetylthreonine; in GTPase KRas, N-terminally processed1 Publication
Modified residuei104 – 1041N6-acetyllysine1 Publication
Lipidationi180 – 1801S-palmitoyl cysteine By similarity
Modified residuei186 – 1861Cysteine methyl ester By similarity
Lipidationi186 – 1861S-farnesyl cysteine By similarity

Post-translational modificationi

Acetylation at Lys-104 prevents interaction with guanine nucleotide exchange factors (GEFs).2 Publications

Keywords - PTMi

Acetylation, Lipoprotein, Methylation, Palmitate, Prenylation

Proteomic databases

MaxQBiP01116.
PaxDbiP01116.
PeptideAtlasiP01116.
PRIDEiP01116.

PTM databases

PhosphoSiteiP01116.

Expressioni

Gene expression databases

ArrayExpressiP01116.
BgeeiP01116.
CleanExiHS_KRAS.
GenevestigatoriP01116.

Interactioni

Subunit structurei

Interacts with PHLPP. Interacts (active GTP-bound form preferentially) with RGS14 By similarity.

Binary interactionsi

WithEntry#Exp.IntActNotes
FntaQ046312EBI-367427,EBI-602447From a different organism.
RAF1P040492EBI-367427,EBI-365996
RASSF2P507492EBI-367415,EBI-960081

Protein-protein interaction databases

BioGridi110043. 33 interactions.
DIPiDIP-33951N.
IntActiP01116. 21 interactions.
MINTiMINT-131580.
STRINGi9606.ENSP00000256078.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi2 – 1110
Helixi16 – 2510
Beta strandi38 – 469
Beta strandi49 – 579
Helixi61 – 633
Helixi66 – 749
Beta strandi76 – 838
Helixi87 – 10317
Turni104 – 1063
Beta strandi111 – 1166
Beta strandi120 – 1223
Helixi127 – 13711
Beta strandi141 – 1433
Turni146 – 1483
Helixi152 – 16716

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1D8DX-ray2.00P178-188[»]
1D8EX-ray3.00P178-188[»]
1KZOX-ray2.20C169-173[»]
1KZPX-ray2.10C169-173[»]
3GFTX-ray2.27A/B/C/D/E/F1-164[»]
4DSNX-ray2.03A2-164[»]
4DSOX-ray1.85A2-164[»]
4EPRX-ray2.00A1-164[»]
4EPTX-ray2.00A1-164[»]
4EPVX-ray1.35A1-164[»]
4EPWX-ray1.70A1-164[»]
4EPXX-ray1.76A1-164[»]
4EPYX-ray1.80A1-164[»]
4L8GX-ray1.52A1-169[»]
4LDJX-ray1.15A1-164[»]
4LPKX-ray1.50A/B1-169[»]
4LRWX-ray2.15A/B1-169[»]
4LUCX-ray1.29A/B1-169[»]
4LV6X-ray1.50A/B1-169[»]
4LYFX-ray1.57A/B/C1-169[»]
4LYHX-ray1.37A/B/C1-169[»]
4LYJX-ray1.93A1-169[»]
4M1OX-ray1.57A/B/C1-169[»]
4M1SX-ray1.55A/B/C1-169[»]
4M1TX-ray1.70A/B/C1-169[»]
4M1WX-ray1.58A/B/C1-169[»]
4M1YX-ray1.49A/B/C1-169[»]
4M21X-ray1.94A/B/C1-169[»]
4M22X-ray2.09A/B/C1-169[»]
4NMMX-ray1.89A1-164[»]
4OBEX-ray1.24A/B1-164[»]
ProteinModelPortaliP01116.
SMRiP01116. Positions 1-166.

Miscellaneous databases

EvolutionaryTraceiP01116.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni166 – 18520Hypervariable region
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi32 – 409Effector region

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1100.
HOGENOMiHOG000233973.
HOVERGENiHBG009351.
InParanoidiP01116.
KOiK07827.
OMAiRRYNREM.
OrthoDBiEOG7QVM41.
PhylomeDBiP01116.
TreeFamiTF312796.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR020849. Small_GTPase_Ras.
[Graphical view]
PANTHERiPTHR24070. PTHR24070. 1 hit.
PfamiPF00071. Ras. 1 hit.
[Graphical view]
PRINTSiPR00449. RASTRNSFRMNG.
SMARTiSM00173. RAS. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51421. RAS. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Note: Isoforms differ in the C-terminal region which is encoded by two alternative exons (IVA and IVB).

Isoform 2A (identifier: P01116-1) [UniParc]FASTAAdd to Basket

Also known as: K-Ras4A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MTEYKLVVVG AGGVGKSALT IQLIQNHFVD EYDPTIEDSY RKQVVIDGET    50
CLLDILDTAG QEEYSAMRDQ YMRTGEGFLC VFAINNTKSF EDIHHYREQI 100
KRVKDSEDVP MVLVGNKCDL PSRTVDTKQA QDLARSYGIP FIETSAKTRQ 150
RVEDAFYTLV REIRQYRLKK ISKEEKTPGC VKIKKCIIM 189
Length:189
Mass (Da):21,656
Last modified:July 21, 1986 - v1
Checksum:i973547B2E11C2C81
GO
Isoform 2B (identifier: P01116-2) [UniParc] [UniParc]FASTAAdd to Basket

Also known as: K-Ras4B

The sequence of this isoform differs from the canonical sequence as follows:
     151-153: RVE → GVD
     165-189: QYRLKKISKEEKTPGCVKIKKCIIM → KHKEKMSKDGKKKKKKSKTKCVIM

Show »
Length:188
Mass (Da):21,425
Checksum:iB1B6D189BB259861
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51K → E in NS3. 1 Publication
VAR_065144
Natural varianti5 – 51K → 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. 3 Publications
VAR_064849
Natural varianti10 – 101G → 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. 1 Publication
VAR_034601
Natural varianti12 – 121G → A in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036305
Natural varianti12 – 121G → C in lung carcinoma; somatic mutation. 2 Publications
VAR_006839
Natural varianti12 – 121G → D in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation. 4 Publications
VAR_016026
Natural varianti12 – 121G → R in lung cancer and bladder cancer; somatic mutation. 1 Publication
VAR_016027
Natural varianti12 – 121G → S in lung carcinoma and GASC; somatic mutation. 3 Publications
VAR_016028
Natural varianti12 – 121G → V in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated. 7 Publications
VAR_006840
Natural varianti13 – 131G → D in a breast carcinoma cell line and GASC; somatic mutation. 3 Publications
VAR_016029
Natural varianti13 – 131G → R in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway. 1 Publication
VAR_065145
Natural varianti14 – 141V → 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. 3 Publications
VAR_026109
Natural varianti22 – 221Q → 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. 2 Publications
VAR_064850
Natural varianti22 – 221Q → R in NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction. 2 Publications
VAR_064851
Natural varianti34 – 341P → L in NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors. 2 Publications
VAR_064852
Natural varianti34 – 341P → Q in NS3. 1 Publication
VAR_064853
Natural varianti34 – 341P → R in CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors. 2 Publications
VAR_026110
Natural varianti36 – 361I → M in NS3. 1 Publication
VAR_064854
Natural varianti58 – 581T → 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. 3 Publications
VAR_026111
Natural varianti59 – 591A → T in bladder cancer and GASC; somatic mutation. 2 Publications
VAR_016030
Natural varianti60 – 601G → R in CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors. 2 Publications
VAR_026112
Natural varianti60 – 601G → S in NS3. 1 Publication
VAR_065146
Natural varianti61 – 611Q → H in lung carcinoma. 3 Publications
Corresponds to variant rs17851045 [ dbSNP | Ensembl ].
VAR_006841
Natural varianti61 – 611Q → R in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036306
Natural varianti71 – 711Y → H in CFC2. 1 Publication
VAR_069784
Natural varianti117 – 1171K → N in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036307
Natural varianti146 – 1461A → T in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036308
Natural varianti147 – 1471K → E in CFC2. 1 Publication
VAR_069785
Isoform 2B (identifier: P01116-2)
Natural varianti152 – 1521V → G in NS3.
Natural varianti153 – 1531D → V in CFC2 and NS3, exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein.
Natural varianti156 – 1561F → I in NS3/CFC2.
Natural varianti156 – 1561F → L Found in a patient with Costello syndrome, 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.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei151 – 1533RVE → GVD in isoform 2B.
VSP_011140
Alternative sequencei165 – 18925QYRLK…KCIIM → KHKEKMSKDGKKKKKKSKTK CVIM in isoform 2B.
VSP_011141Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L00049
, L00045, L00046, L00047 Genomic DNA. Translation: AAB59444.1.
L00048
, L00045, L00046, L00047 Genomic DNA. Translation: AAB59445.1.
M54968 mRNA. Translation: AAB41942.1.
AF493917 mRNA. Translation: AAM12631.1.
BT007153 mRNA. Translation: AAP35817.1.
AK292510 mRNA. Translation: BAF85199.1.
CH471094 Genomic DNA. Translation: EAW96511.1.
CH471094 Genomic DNA. Translation: EAW96512.1.
EU332849 Genomic DNA. Translation: ABY87538.1.
BC013572 mRNA. Translation: AAH13572.1.
K01519 Genomic DNA. No translation available.
K01520 Genomic DNA. No translation available.
M25876 Genomic DNA. Translation: AAA35683.1.
M34904 Genomic DNA. Translation: AAA36149.1.
M30539 Genomic DNA. Translation: AAA36557.1.
X01669 Genomic DNA. Translation: CAA25828.1.
X02825 Genomic DNA. Translation: CAA26593.1.
K03210, K03209 Genomic DNA. Translation: AAA36554.1.
CCDSiCCDS8702.1. [P01116-2]
CCDS8703.1. [P01116-1]
PIRiA93311. TVHUK.
B93311. TVHU2K.
RefSeqiNP_004976.2. NM_004985.4. [P01116-2]
NP_203524.1. NM_033360.3. [P01116-1]
XP_006719132.1. XM_006719069.1. [P01116-1]
UniGeneiHs.37003.
Hs.505033.

Genome annotation databases

EnsembliENST00000256078; ENSP00000256078; ENSG00000133703. [P01116-1]
ENST00000311936; ENSP00000308495; ENSG00000133703. [P01116-2]
GeneIDi3845.
KEGGihsa:3845.
UCSCiuc001rgp.1. human. [P01116-1]
uc001rgq.1. human. [P01116-2]

Polymorphism databases

DMDMi131875.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
SHMPD

The Singapore human mutation and polymorphism database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L00049
, L00045 , L00046 , L00047 Genomic DNA. Translation: AAB59444.1 .
L00048
, L00045 , L00046 , L00047 Genomic DNA. Translation: AAB59445.1 .
M54968 mRNA. Translation: AAB41942.1 .
AF493917 mRNA. Translation: AAM12631.1 .
BT007153 mRNA. Translation: AAP35817.1 .
AK292510 mRNA. Translation: BAF85199.1 .
CH471094 Genomic DNA. Translation: EAW96511.1 .
CH471094 Genomic DNA. Translation: EAW96512.1 .
EU332849 Genomic DNA. Translation: ABY87538.1 .
BC013572 mRNA. Translation: AAH13572.1 .
K01519 Genomic DNA. No translation available.
K01520 Genomic DNA. No translation available.
M25876 Genomic DNA. Translation: AAA35683.1 .
M34904 Genomic DNA. Translation: AAA36149.1 .
M30539 Genomic DNA. Translation: AAA36557.1 .
X01669 Genomic DNA. Translation: CAA25828.1 .
X02825 Genomic DNA. Translation: CAA26593.1 .
K03210 , K03209 Genomic DNA. Translation: AAA36554.1 .
CCDSi CCDS8702.1. [P01116-2 ]
CCDS8703.1. [P01116-1 ]
PIRi A93311. TVHUK.
B93311. TVHU2K.
RefSeqi NP_004976.2. NM_004985.4. [P01116-2 ]
NP_203524.1. NM_033360.3. [P01116-1 ]
XP_006719132.1. XM_006719069.1. [P01116-1 ]
UniGenei Hs.37003.
Hs.505033.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1D8D X-ray 2.00 P 178-188 [» ]
1D8E X-ray 3.00 P 178-188 [» ]
1KZO X-ray 2.20 C 169-173 [» ]
1KZP X-ray 2.10 C 169-173 [» ]
3GFT X-ray 2.27 A/B/C/D/E/F 1-164 [» ]
4DSN X-ray 2.03 A 2-164 [» ]
4DSO X-ray 1.85 A 2-164 [» ]
4EPR X-ray 2.00 A 1-164 [» ]
4EPT X-ray 2.00 A 1-164 [» ]
4EPV X-ray 1.35 A 1-164 [» ]
4EPW X-ray 1.70 A 1-164 [» ]
4EPX X-ray 1.76 A 1-164 [» ]
4EPY X-ray 1.80 A 1-164 [» ]
4L8G X-ray 1.52 A 1-169 [» ]
4LDJ X-ray 1.15 A 1-164 [» ]
4LPK X-ray 1.50 A/B 1-169 [» ]
4LRW X-ray 2.15 A/B 1-169 [» ]
4LUC X-ray 1.29 A/B 1-169 [» ]
4LV6 X-ray 1.50 A/B 1-169 [» ]
4LYF X-ray 1.57 A/B/C 1-169 [» ]
4LYH X-ray 1.37 A/B/C 1-169 [» ]
4LYJ X-ray 1.93 A 1-169 [» ]
4M1O X-ray 1.57 A/B/C 1-169 [» ]
4M1S X-ray 1.55 A/B/C 1-169 [» ]
4M1T X-ray 1.70 A/B/C 1-169 [» ]
4M1W X-ray 1.58 A/B/C 1-169 [» ]
4M1Y X-ray 1.49 A/B/C 1-169 [» ]
4M21 X-ray 1.94 A/B/C 1-169 [» ]
4M22 X-ray 2.09 A/B/C 1-169 [» ]
4NMM X-ray 1.89 A 1-164 [» ]
4OBE X-ray 1.24 A/B 1-164 [» ]
ProteinModelPortali P01116.
SMRi P01116. Positions 1-166.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110043. 33 interactions.
DIPi DIP-33951N.
IntActi P01116. 21 interactions.
MINTi MINT-131580.
STRINGi 9606.ENSP00000256078.

Chemistry

ChEMBLi CHEMBL2189121.

PTM databases

PhosphoSitei P01116.

Polymorphism databases

DMDMi 131875.

Proteomic databases

MaxQBi P01116.
PaxDbi P01116.
PeptideAtlasi P01116.
PRIDEi P01116.

Protocols and materials databases

DNASUi 3845.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000256078 ; ENSP00000256078 ; ENSG00000133703 . [P01116-1 ]
ENST00000311936 ; ENSP00000308495 ; ENSG00000133703 . [P01116-2 ]
GeneIDi 3845.
KEGGi hsa:3845.
UCSCi uc001rgp.1. human. [P01116-1 ]
uc001rgq.1. human. [P01116-2 ]

Organism-specific databases

CTDi 3845.
GeneCardsi GC12M025358.
GeneReviewsi KRAS.
HGNCi HGNC:6407. KRAS.
MIMi 190070. gene.
601626. phenotype.
607785. phenotype.
609942. phenotype.
613659. phenotype.
615278. phenotype.
neXtProti NX_P01116.
Orphaneti 1340. Cardiofaciocutaneous syndrome.
3071. Costello syndrome.
1333. Familial pancreatic carcinoma.
144. Hereditary nonpolyposis colon cancer.
86834. Juvenile myelomonocytic leukemia.
2612. Linear nevus sebaceus syndrome.
648. Noonan syndrome.
251612. Pilocytic astrocytoma.
357194. Selection of therapeutic option in colorectal cancer.
357191. Selection of therapeutic option in non-small cell lung carcinoma.
PharmGKBi PA30196.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1100.
HOGENOMi HOG000233973.
HOVERGENi HBG009351.
InParanoidi P01116.
KOi K07827.
OMAi RRYNREM.
OrthoDBi EOG7QVM41.
PhylomeDBi P01116.
TreeFami TF312796.

Enzyme and pathway databases

Reactomei REACT_111040. Signaling by SCF-KIT.
REACT_115852. Signaling by constitutively active EGFR.
REACT_115854. GRB2 events in ERBB2 signaling.
REACT_115993. SHC1 events in ERBB2 signaling.
REACT_116005. SHC1 events in ERBB4 signaling.
REACT_118778. Activation of RAS in B cells.
REACT_12033. Signalling to RAS.
REACT_12065. p38MAPK events.
REACT_121096. EGFR Transactivation by Gastrin.
REACT_121398. Signaling by FGFR mutants.
REACT_12579. SHC1 events in EGFR signaling.
REACT_12606. GRB2 events in EGFR signaling.
REACT_12621. Tie2 Signaling.
REACT_147814. DAP12 signaling.
REACT_163701. FCERI mediated MAPK activation.
REACT_17025. Downstream signal transduction.
REACT_18334. NCAM signaling for neurite out-growth.
REACT_2077. RAF activation.
REACT_21247. FRS2-mediated cascade.
REACT_21374. SHC-mediated cascade.
REACT_524. SOS-mediated signalling.
REACT_614. RAF phosphorylates MEK.
REACT_661. SHC-mediated signalling.
REACT_962. MEK activation.
SignaLinki P01116.

Miscellaneous databases

ChiTaRSi KRAS. human.
EvolutionaryTracei P01116.
GeneWikii KRAS.
GenomeRNAii 3845.
NextBioi 15131.
PROi P01116.
SOURCEi Search...

Gene expression databases

ArrayExpressi P01116.
Bgeei P01116.
CleanExi HS_KRAS.
Genevestigatori P01116.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR020849. Small_GTPase_Ras.
[Graphical view ]
PANTHERi PTHR24070. PTHR24070. 1 hit.
Pfami PF00071. Ras. 1 hit.
[Graphical view ]
PRINTSi PR00449. RASTRNSFRMNG.
SMARTi SM00173. RAS. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
TIGRFAMsi TIGR00231. small_GTP. 1 hit.
PROSITEi PS51421. RAS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Structure and organization of the human Ki-ras proto-oncogene and a related processed pseudogene."
    McGrath J.P., Capon D.J., Smith D.H., Chen E.Y., Seeburg P.H., Goeddel D.V., Levinson A.D.
    Nature 304:501-506(1983) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 2A AND 2B).
  2. "Structure of the Ki-ras gene of the human lung carcinoma cell line Calu-1."
    Shimizu K., Birnbaum D., Ruley M.A., Fasano O., Suard Y., Edlund L., Taparowsky E., Goldfarb M., Wigler M.
    Nature 304:497-500(1983) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 2A AND 2B).
    Tissue: Lung carcinoma.
  3. "Activation of Ki-ras2 gene in human colon and lung carcinomas by two different point mutations."
    Capon D.J., Seeburg P.H., McGrath J.P., Hayflick J.S., Edman U., Levinson A.D., Goeddel D.V.
    Nature 304:507-513(1983) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 2A AND 2B).
    Tissue: Colon carcinoma and Lung.
  4. "Human colon carcinoma Ki-ras2 oncogene and its corresponding proto-oncogene."
    McCoy M.S., Bargmann C.I., Weinberg R.A.
    Mol. Cell. Biol. 4:1577-1582(1984) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 2A AND 2B), VARIANT COLON CANCER VAL-12.
    Tissue: Colon carcinoma.
  5. "The c-K-ras gene and human cancer (review)."
    Kahn S., Yamamoto F., Almoguera C., Winter E., Forrester K., Jordano J., Perucho M.
    Anticancer Res. 7:639-652(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2B).
  6. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
    Puhl H.L. III, Ikeda S.R., Aronstam R.S.
    Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2B).
    Tissue: Brain.
  7. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2B), VARIANT LUNG CARCINOMA HIS-61.
  8. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2B).
    Tissue: Testis.
  9. SeattleSNPs variation discovery resource
    Submitted (DEC-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  10. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  11. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2B), VARIANT LUNG CARCINOMA HIS-61.
    Tissue: Lung carcinoma.
  12. "Isolation of transforming sequences of two human lung carcinomas: structural and functional analysis of the activated c-K-ras oncogenes."
    Nakano H., Yamamoto F., Neville C., Evans D., Mizuno T., Perucho M.
    Proc. Natl. Acad. Sci. U.S.A. 81:71-75(1984) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-37, VARIANT LUNG CARCINOMA CYS-12.
    Tissue: Lung carcinoma.
  13. "Activation of the c-K-ras oncogene in a human pancreas carcinoma."
    Hirai H., Okabe T., Anraku Y., Fujisawa M., Urabe A., Takaku F.
    Biochem. Biophys. Res. Commun. 127:168-174(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-96.
    Tissue: Pancreatic carcinoma.
  14. "Activated c-Ha-ras oncogene with a guanine to thymine transversion at the twelfth codon in a human stomach cancer cell line."
    Deng G., Lu Y., Chen S., Miao J., Lu G., Li H., Cai H., Xu X., Zheng E., Liu P.
    Cancer Res. 47:3195-3198(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-37, VARIANT GASC VAL-12.
  15. "Malignant activation of a K-ras oncogene in lung carcinoma but not in normal tissue of the same patient."
    Santos E., Martin-Zanca D., Reddy P.E., Pierotti M.A., Porta G., Barbacid M.
    Science 223:661-664(1984) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-36, VARIANT BLADDER/LUNG CANCER ARG-12.
    Tissue: Lung carcinoma.
  16. "Essential region for transforming activity of human c-Ha-ras-1."
    Sekiya T., Tokunaga A., Fushimi M.
    Jpn. J. Cancer Res. 76:787-791(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-37.
  17. Bienvenut W.V., Calvo F., Kolch W.
    Submitted (FEB-2008) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 1-41; 43-147 AND 150-161, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT MET-1 AND THR-2, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Cervix carcinoma.
  18. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 38-96.
    Tissue: Lung carcinoma.
  19. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  20. Cited for: ACETYLATION AT LYS-104, VARIANT VAL-12.
  21. "The human c-Kirsten ras gene is activated by a novel mutation in codon 13 in the breast carcinoma cell line MDA-MB231."
    Kozma S.C., Bogaard M.E., Buser K., Saurer S.M., Bos J.L., Groner B., Hynes N.E.
    Nucleic Acids Res. 15:5963-5971(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BREAST CANCER ASP-13.
  22. "Detection of a rare point mutation in Ki-ras of a human bladder cancer xenograft by polymerase chain reaction and direct sequencing."
    Grimmond S.M., Raghavan D., Russell P.J.
    Urol. Res. 20:121-126(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BLADDER CANCER THR-59.
  23. "Detection of point mutations in the Kirsten-ras oncogene provides evidence for the multicentricity of pancreatic carcinoma."
    Motojima K., Urano T., Nagata Y., Shiku H., Tsurifune T., Kanematsu T.
    Ann. Surg. 217:138-143(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PANCREATIC CARCINOMA ASP-12 AND VAL-12.
  24. "Clinicopathologic significance of the K-ras gene codon 12 point mutation in stomach cancer. An analysis of 140 cases."
    Lee K.H., Lee J.S., Suh C., Kim S.W., Kim S.B., Lee J.H., Lee M.S., Park M.Y., Sun H.S., Kim S.H.
    Cancer 75:2794-2801(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GASC SER-12 AND ASP-12.
  25. "Biochemical characterization of a novel KRAS insertion mutation from a human leukemia."
    Bollag G., Adler F., elMasry N., McCabe P.C., Conner E. Jr., Thompson P., McCormick F., Shannon K.
    J. Biol. Chem. 271:32491-32494(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN AML, VARIANT GLY-10 INS, CHARACTERIZATION OF VARIANT GLY-10 INS.
  26. Cited for: VARIANTS GASC ASN-5; VAL-12; ASP-13 AND THR-59.
  27. "RAS pathway activation and an oncogenic RAS mutation in sporadic pilocytic astrocytoma."
    Sharma M.K., Zehnbauer B.A., Watson M.A., Gutmann D.H.
    Neurology 65:1335-1336(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PYLOCYTIC ASTROCYTOMA ARG-13.
  28. "Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype."
    Carta C., Pantaleoni F., Bocchinfuso G., Stella L., Vasta I., Sarkozy A., Digilio C., Palleschi A., Pizzuti A., Grammatico P., Zampino G., Dallapiccola B., Gelb B.D., Tartaglia M.
    Am. J. Hum. Genet. 79:129-135(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NS3 GLY-152 (ISOSORM 2) AND VAL-153 (ISOFORM 2).
  29. "Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with different tobacco exposure and clinicopathologic features."
    Tam I.Y.S., Chung L.P., Suen W.S., Wang E., Wong M.C.M., Ho K.K., Lam W.K., Chiu S.W., Girard L., Minna J.D., Gazdar A.F., Wong M.P.
    Clin. Cancer Res. 12:1647-1653(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LUNG CARCINOMA CYS-12; ASP-12; SER-12; VAL-12 AND HIS-61.
  30. Cited for: VARIANT CFC2 ARG-60.
  31. Cited for: VARIANTS NS3 ILE-14 AND ILE-58, VARIANT CFC2 ARG-34, CHARACTERIZATION OF VARIANTS NS3 ILE-14 AND ILE-58.
  32. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-12; ASP-12; SER-12; VAL-12; ASP-13; ARG-61; ASN-117 AND THR-146.
  33. "Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene."
    Bertola D.R., Pereira A.C., Brasil A.S., Albano L.M., Kim C.A., Krieger J.E.
    J. Hum. Genet. 52:521-526(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NS3 GLU-5.
  34. Cited for: VARIANTS NS3 ILE-14; ARG-22; LEU-34; GLN-34; MET-36 AND VAL-153 (ISOFORM 2), VARIANT CFC2 GLU-22, VARIANT NS3/CFC2 ILE-156 (ISOFORM 2), VARIANTS ASN-5 AND LEU-156 (ISOFORM 2).
  35. Cited for: VARIANTS NS3 ILE-58 AND SER-60.
  36. "Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders."
    Gremer L., Merbitz-Zahradnik T., Dvorsky R., Cirstea I.C., Kratz C.P., Zenker M., Wittinghofer A., Ahmadian M.R.
    Hum. Mutat. 32:33-43(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS NS3 ILE-14; ARG-22; LEU-34; ILE-58 AND VAL-153 (ISOFORM 2), CHARACTERIZATION OF VARIANTS CFC2 GLU-22; ARG-34 AND ARG-60, CHARACTERIZATION OF VARIANTS ASN-5 AND LEU-156 (ISOFORM 2).
  37. "Two novel germline KRAS mutations: expanding the molecular and clinical phenotype."
    Stark Z., Gillessen-Kaesbach G., Ryan M.M., Cirstea I.C., Gremer L., Ahmadian M.R., Savarirayan R., Zenker M.
    Clin. Genet. 81:590-594(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CFC2 HIS-71 AND GLU-147.

Entry informationi

Entry nameiRASK_HUMAN
AccessioniPrimary (citable) accession number: P01116
Secondary accession number(s): A8K8Z5
, B0LPF9, P01118, Q96D10
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: July 21, 1986
Last modified: September 3, 2014
This is version 179 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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