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Protein

Serine/threonine-protein kinase B-raf

Gene

BRAF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Phosphorylates MAP2K1, and thereby contributes to the MAP kinase signal transduction pathway.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+By similarityNote: Binds 2 Zn2+ ions per subunit.By similarity

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activity is increased by EGF and HGF.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi235Zinc 1By similarity1
Metal bindingi248Zinc 2By similarity1
Metal bindingi251Zinc 2By similarity1
Metal bindingi261Zinc 1By similarity1
Metal bindingi264Zinc 1By similarity1
Metal bindingi269Zinc 2By similarity1
Metal bindingi272Zinc 2By similarity1
Metal bindingi280Zinc 1By similarity1
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei483ATPPROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei576Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri234 – 280Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST47
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi463 – 471ATPPROSITE-ProRule annotation9

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionKinase, Serine/threonine-protein kinase, Transferase
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.7.10.2 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1295596 Spry regulation of FGF signaling
R-HSA-170968 Frs2-mediated activation
R-HSA-170984 ARMS-mediated activation
R-HSA-187706 Signalling to p38 via RIT and RIN
R-HSA-442742 CREB phosphorylation through the activation of Ras
R-HSA-5673000 RAF activation
R-HSA-5674135 MAP2K and MAPK activation
R-HSA-5674499 Negative feedback regulation of MAPK pathway
R-HSA-5675221 Negative regulation of MAPK pathway
R-HSA-6802946 Signaling by moderate kinase activity BRAF mutants
R-HSA-6802948 Signaling by high-kinase activity BRAF mutants
R-HSA-6802949 Signaling by RAS mutants
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-6802955 Paradoxical activation of RAF signaling by kinase inactive BRAF

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P15056

SIGNOR Signaling Network Open Resource

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SIGNORi
P15056

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Serine/threonine-protein kinase B-raf (EC:2.7.11.1)
Alternative name(s):
Proto-oncogene B-Raf
p94
v-Raf murine sarcoma viral oncogene homolog B1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BRAF
Synonyms:BRAF1, RAFB1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000157764.12

Human Gene Nomenclature Database

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HGNCi
HGNC:1097 BRAF

Online Mendelian Inheritance in Man (OMIM)

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MIMi
164757 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P15056

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Defects in BRAF are found in a wide range of cancers.1 Publication
Colorectal cancer (CRC)4 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
See also OMIM:114500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_018613462R → I in CRC. 1 PublicationCorresponds to variant dbSNP:rs180177032EnsemblClinVar.1
Natural variantiVAR_018614463I → S in CRC. 1 PublicationCorresponds to variant dbSNP:rs180177033EnsemblClinVar.1
Natural variantiVAR_018615464G → E in CRC. 2 PublicationsCorresponds to variant dbSNP:rs121913348EnsemblClinVar.1
Natural variantiVAR_018629600V → E in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5. 8 PublicationsCorresponds to variant dbSNP:rs113488022EnsemblClinVar.1
Natural variantiVAR_018630601K → E in CRC. 1 PublicationCorresponds to variant dbSNP:rs121913364EnsemblClinVar.1
Lung cancer (LNCR)1 Publication
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionA common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis.
See also OMIM:211980
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018512466G → V in LNCR. 2 PublicationsCorresponds to variant dbSNP:rs121913351EnsemblClinVar.1
Natural variantiVAR_018513597L → R in LNCR; also found in an ovarian serous carcinoma sample; somatic mutation. 3 PublicationsCorresponds to variant dbSNP:rs121913366EnsemblClinVar.1
Familial non-Hodgkin lymphoma (NHL)1 Publication
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionCancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss.
See also OMIM:605027
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018620469G → A in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation. 3 PublicationsCorresponds to variant dbSNP:rs121913355EnsemblClinVar.1
Natural variantiVAR_018622469G → R in NHL. 1 PublicationCorresponds to variant dbSNP:rs121913357EnsemblClinVar.1
Natural variantiVAR_018624594D → G in NHL. 1 PublicationCorresponds to variant dbSNP:rs121913338EnsemblClinVar.1
Cardiofaciocutaneous syndrome 1 (CFC1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:115150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065171244T → P in CFC1. 1 PublicationCorresponds to variant dbSNP:rs397507465EnsemblClinVar.1
Natural variantiVAR_058623245L → F in CFC1. 1 PublicationCorresponds to variant dbSNP:rs397507466EnsemblClinVar.1
Natural variantiVAR_026113246A → P in CFC1. 3 PublicationsCorresponds to variant dbSNP:rs180177034EnsemblClinVar.1
Natural variantiVAR_026114257Q → R in CFC1. 4 PublicationsCorresponds to variant dbSNP:rs180177035EnsemblClinVar.1
Natural variantiVAR_065172262Q → K in CFC1. 1 PublicationCorresponds to variant dbSNP:rs397507470EnsemblClinVar.1
Natural variantiVAR_058624275E → K in CFC1. 1 Publication1
Natural variantiVAR_035096467S → A in CFC1. 1 PublicationCorresponds to variant dbSNP:rs869025606EnsemblClinVar.1
Natural variantiVAR_035097468F → S in CFC1. 2 PublicationsCorresponds to variant dbSNP:rs397507473EnsemblClinVar.1
Natural variantiVAR_026115485L → F in CFC1. 3 PublicationsCorresponds to variant dbSNP:rs180177036EnsemblClinVar.1
Natural variantiVAR_026116499K → E in CFC1. 3 PublicationsCorresponds to variant dbSNP:rs180177037EnsemblClinVar.1
Natural variantiVAR_058625499K → N in CFC1. 2 PublicationsCorresponds to variant dbSNP:rs397507476EnsemblClinVar.1
Natural variantiVAR_026117501E → G in CFC1. 2 PublicationsCorresponds to variant dbSNP:rs180177039EnsemblClinVar.1
Natural variantiVAR_026118501E → K in CFC1. 3 PublicationsCorresponds to variant dbSNP:rs180177038EnsemblClinVar.1
Natural variantiVAR_058626525L → P in CFC1. 1 PublicationCorresponds to variant dbSNP:rs869025340EnsemblClinVar.1
Natural variantiVAR_065173580N → D in CFC1. 1 Publication1
Natural variantiVAR_026119581N → D in CFC1. 3 PublicationsCorresponds to variant dbSNP:rs180177040EnsemblClinVar.1
Natural variantiVAR_035098596G → V in CFC1. 1 PublicationCorresponds to variant dbSNP:rs397507483EnsemblClinVar.1
Natural variantiVAR_058628599T → R in CFC1. 1 PublicationCorresponds to variant dbSNP:rs121913375EnsemblClinVar.1
Natural variantiVAR_058629601K → Q in CFC1. 1 PublicationCorresponds to variant dbSNP:rs121913364EnsemblClinVar.1
Natural variantiVAR_058630638D → E in CFC1. 1 PublicationCorresponds to variant dbSNP:rs180177042EnsemblClinVar.1
Natural variantiVAR_058631709Q → R in CFC1. 1 PublicationCorresponds to variant dbSNP:rs397507486Ensembl.1
Noonan syndrome 7 (NS7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613706
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058627531W → C in NS7. 1 PublicationCorresponds to variant dbSNP:rs606231228EnsemblClinVar.1
Natural variantiVAR_018627597L → V in NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation. 3 PublicationsCorresponds to variant dbSNP:rs121913369EnsemblClinVar.1
LEOPARD syndrome 3 (LPRD3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.
See also OMIM:613707
A chromosomal aberration involving BRAF is found in pilocytic astrocytomas. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi483K → S: Reduces kinase activity with MAP2K1. 1 Publication1
Mutagenesisi578K → R: Blocks EGF-induced ubiquitination and ERK activation. 1 Publication1
Mutagenesisi671R → K: Increased kinase activity and stability in response to EGF treatment. 1 Publication1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei380 – 381Breakpoint for translocation to form KIAA1549-BRAF fusion protein2
Sitei438 – 439Breakpoint for translocation to form KIAA1549-BRAF fusion protein2

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

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DisGeNETi
673

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
BRAF

MalaCards human disease database

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MalaCardsi
BRAF
MIMi114500 phenotype
115150 phenotype
211980 phenotype
605027 phenotype
613706 phenotype
613707 phenotype

Open Targets

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OpenTargetsi
ENSG00000157764

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
1340 Cardiofaciocutaneous syndrome
58017 Classic hairy cell leukemia
54595 Craniopharyngioma
146 Differentiated thyroid carcinoma
99872 Hashimoto-Pritzker syndrome
411533 NON RARE IN EUROPE: Melanoma
648 Noonan syndrome
500 Noonan syndrome with multiple lentigines
251612 Pilocytic astrocytoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA25408

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL5145

Drug and drug target database

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DrugBanki
DB08912 Dabrafenib
DB05238 PLX4032
DB08896 Regorafenib
DB00398 Sorafenib
DB08881 Vemurafenib
DB05190 XL281

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
1943

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
BRAF

Domain mapping of disease mutations (DMDM)

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DMDMi
50403720

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000856652 – 766Serine/threonine-protein kinase B-rafAdd BLAST765

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanine1 Publication1
Modified residuei151PhosphoserineCombined sources1
Modified residuei333PhosphoserineBy similarity1
Modified residuei365Phosphoserine; by SGK1Combined sources2 Publications1
Modified residuei373Phosphothreonine; by autocatalysis1 Publication1
Modified residuei396Phosphothreonine1 Publication1
Modified residuei399Phosphoserine1 Publication1
Modified residuei401PhosphothreonineCombined sources1 Publication1
Modified residuei446PhosphoserineCombined sources1
Modified residuei447PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki578Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei671Omega-N-methylarginine; by PRMT51 Publication1
Modified residuei729PhosphoserineCombined sources1 Publication1
Modified residuei750PhosphoserineBy similarity1
Modified residuei753Phosphothreonine; by MAPK11 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation at Ser-365 by SGK1 inhibits its activity.4 Publications
Methylation at Arg-671 decreases stability and kinase activity.1 Publication
Ubiquitinated by RNF149; which leads to proteasomal degradation. Polyubiquitinated at Lys-578 in response to EGF.2 Publications

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P15056

MaxQB - The MaxQuant DataBase

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MaxQBi
P15056

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P15056

PeptideAtlas

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PeptideAtlasi
P15056

PRoteomics IDEntifications database

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PRIDEi
P15056

ProteomicsDB human proteome resource

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ProteomicsDBi
53102

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P15056

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P15056

Miscellaneous databases

CutDB - Proteolytic event database

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PMAP-CutDBi
P15056

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Brain and testis.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000157764 Expressed in 203 organ(s), highest expression level in buccal mucosa cell

CleanEx database of gene expression profiles

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CleanExi
HS_BRAF

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P15056 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P15056 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB004552
HPA001328
HPA071048

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer. Homodimer. Heterodimerizes with RAF1, and the heterodimer possesses a highly increased kinase activity compared to the respective homodimers or monomers. Heterodimerization is mitogen-regulated and enhanced by 14-3-3 proteins. MAPK1/ERK2 activation can induce a negative feedback that promotes the dissociation of the heterodimer by phosphorylating BRAF at Thr-753. Found in a complex with at least BRAF, HRAS, MAP2K1, MAPK3 and RGS14. Interacts with RIT1. Interacts (via N-terminus) with RGS14 (via RBD domains); the interaction mediates the formation of a ternary complex with RAF1, a ternary complex inhibited by GNAI1 (By similarity). Interacts with DGKH (PubMed:19710016). Interacts with PRMT5 (PubMed:21917714). Interacts with KSR2 (PubMed:21441910). Interacts with AKAP13, MAP2K1 and KSR1. Identified in a complex with AKAP13, MAP2K1 and KSR1 (PubMed:21102438). Interacts with FNIP1 and FNIP2 (PubMed:27353360).By similarity6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107141, 104 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P15056

Database of interacting proteins

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DIPi
DIP-1045N

Protein interaction database and analysis system

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IntActi
P15056, 49 interactors

Molecular INTeraction database

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MINTi
P15056

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000288602

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P15056

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1766
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P15056

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P15056

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P15056

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini155 – 227RBDPROSITE-ProRule annotationAdd BLAST73
Domaini457 – 717Protein kinasePROSITE-ProRule annotationAdd BLAST261

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi6 – 11Poly-Gly6
Compositional biasi122 – 129Poly-Ser8
Compositional biasi428 – 432Poly-Ser5

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri234 – 280Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST47

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0193 Eukaryota
ENOG410Y4UP LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156154

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG001886

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P15056

KEGG Orthology (KO)

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KOi
K04365

Identification of Orthologs from Complete Genome Data

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OMAi
RCLRKYQ

Database of Orthologous Groups

More...
OrthoDBi
EOG091G09SB

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P15056

TreeFam database of animal gene trees

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TreeFami
TF317006

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00029 C1, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR020454 DAG/PE-bd
IPR011009 Kinase-like_dom_sf
IPR002219 PE/DAG-bd
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR003116 RBD_dom
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
IPR008271 Ser/Thr_kinase_AS
IPR029071 Ubiquitin-like_domsf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00130 C1_1, 1 hit
PF07714 Pkinase_Tyr, 1 hit
PF02196 RBD, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00008 DAGPEDOMAIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00109 C1, 1 hit
SM00455 RBD, 1 hit
SM00220 S_TKc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54236 SSF54236, 1 hit
SSF56112 SSF56112, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit
PS50898 RBD, 1 hit
PS00479 ZF_DAG_PE_1, 1 hit
PS50081 ZF_DAG_PE_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 10 potential isoforms that are computationally mapped.Show allAlign All

P15056-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAALSGGGGG GAEPGQALFN GDMEPEAGAG AGAAASSAAD PAIPEEVWNI
60 70 80 90 100
KQMIKLTQEH IEALLDKFGG EHNPPSIYLE AYEEYTSKLD ALQQREQQLL
110 120 130 140 150
ESLGNGTDFS VSSSASMDTV TSSSSSSLSV LPSSLSVFQN PTDVARSNPK
160 170 180 190 200
SPQKPIVRVF LPNKQRTVVP ARCGVTVRDS LKKALMMRGL IPECCAVYRI
210 220 230 240 250
QDGEKKPIGW DTDISWLTGE ELHVEVLENV PLTTHNFVRK TFFTLAFCDF
260 270 280 290 300
CRKLLFQGFR CQTCGYKFHQ RCSTEVPLMC VNYDQLDLLF VSKFFEHHPI
310 320 330 340 350
PQEEASLAET ALTSGSSPSA PASDSIGPQI LTSPSPSKSI PIPQPFRPAD
360 370 380 390 400
EDHRNQFGQR DRSSSAPNVH INTIEPVNID DLIRDQGFRG DGGSTTGLSA
410 420 430 440 450
TPPASLPGSL TNVKALQKSP GPQRERKSSS SSEDRNRMKT LGRRDSSDDW
460 470 480 490 500
EIPDGQITVG QRIGSGSFGT VYKGKWHGDV AVKMLNVTAP TPQQLQAFKN
510 520 530 540 550
EVGVLRKTRH VNILLFMGYS TKPQLAIVTQ WCEGSSLYHH LHIIETKFEM
560 570 580 590 600
IKLIDIARQT AQGMDYLHAK SIIHRDLKSN NIFLHEDLTV KIGDFGLATV
610 620 630 640 650
KSRWSGSHQF EQLSGSILWM APEVIRMQDK NPYSFQSDVY AFGIVLYELM
660 670 680 690 700
TGQLPYSNIN NRDQIIFMVG RGYLSPDLSK VRSNCPKAMK RLMAECLKKK
710 720 730 740 750
RDERPLFPQI LASIELLARS LPKIHRSASE PSLNRAGFQT EDFSLYACAS
760
PKTPIQAGGY GAFPVH
Length:766
Mass (Da):84,437
Last modified:July 19, 2004 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0798C2AAB487E813
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YDP5A0A2R8YDP5_HUMAN
Serine/threonine-protein kinase B-r...
BRAF
584Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C560H7C560_HUMAN
Serine/threonine-protein kinase B-r...
BRAF
767Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y8E0A0A2R8Y8E0_HUMAN
Serine/threonine-protein kinase B-r...
BRAF
807Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2U3TZI2A0A2U3TZI2_HUMAN
Serine/threonine-protein kinase B-r...
BRAF
806Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C4S5H7C4S5_HUMAN
Serine/threonine-protein kinase B-r...
BRAF
231Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y467A0A2R8Y467_HUMAN
Serine/threonine-protein kinase B-r...
BRAF
300Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y492A0A2R8Y492_HUMAN
Serine/threonine-protein kinase B-r...
BRAF
411Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C5K3H7C5K3_HUMAN
Serine/threonine-protein kinase B-r...
BRAF
209Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y679A0A2R8Y679_HUMAN
Serine/threonine-protein kinase B-r...
BRAF
274Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YES9A0A2R8YES9_HUMAN
Serine/threonine-protein kinase B-r...
BRAF
172Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD43193 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAQ43111 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAQ43112 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAQ43113 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAQ43114 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAQ43115 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAQ43116 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti766H → D in AAA96495 (PubMed:3043188).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058620241T → M in a patient with Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs387906660EnsemblClinVar.1
Natural variantiVAR_058621241T → P in CFC1 and LPRD3. 2 PublicationsCorresponds to variant dbSNP:rs387906661EnsemblClinVar.1
Natural variantiVAR_058622241T → R in a patient with Noonan syndrome. 1 PublicationCorresponds to variant dbSNP:rs387906660EnsemblClinVar.1
Natural variantiVAR_065171244T → P in CFC1. 1 PublicationCorresponds to variant dbSNP:rs397507465EnsemblClinVar.1
Natural variantiVAR_058623245L → F in CFC1. 1 PublicationCorresponds to variant dbSNP:rs397507466EnsemblClinVar.1
Natural variantiVAR_026113246A → P in CFC1. 3 PublicationsCorresponds to variant dbSNP:rs180177034EnsemblClinVar.1
Natural variantiVAR_026114257Q → R in CFC1. 4 PublicationsCorresponds to variant dbSNP:rs180177035EnsemblClinVar.1
Natural variantiVAR_065172262Q → K in CFC1. 1 PublicationCorresponds to variant dbSNP:rs397507470EnsemblClinVar.1
Natural variantiVAR_058624275E → K in CFC1. 1 Publication1
Natural variantiVAR_040391301P → S1 PublicationCorresponds to variant dbSNP:rs34776339Ensembl.1
Natural variantiVAR_018613462R → I in CRC. 1 PublicationCorresponds to variant dbSNP:rs180177032EnsemblClinVar.1
Natural variantiVAR_018614463I → S in CRC. 1 PublicationCorresponds to variant dbSNP:rs180177033EnsemblClinVar.1
Natural variantiVAR_018615464G → E in CRC. 2 PublicationsCorresponds to variant dbSNP:rs121913348EnsemblClinVar.1
Natural variantiVAR_018616464G → V in a colorectal cancer cell line; elevated kinase activity; efficiently induces cell transformation. 1 PublicationCorresponds to variant dbSNP:rs121913348EnsemblClinVar.1
Natural variantiVAR_018617466G → A in melanoma. 1 PublicationCorresponds to variant dbSNP:rs121913351EnsemblClinVar.1
Natural variantiVAR_018618466G → E in melanoma. 1 PublicationCorresponds to variant dbSNP:rs121913351EnsemblClinVar.1
Natural variantiVAR_018512466G → V in LNCR. 2 PublicationsCorresponds to variant dbSNP:rs121913351EnsemblClinVar.1
Natural variantiVAR_035096467S → A in CFC1. 1 PublicationCorresponds to variant dbSNP:rs869025606EnsemblClinVar.1
Natural variantiVAR_035097468F → S in CFC1. 2 PublicationsCorresponds to variant dbSNP:rs397507473EnsemblClinVar.1
Natural variantiVAR_018620469G → A in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation. 3 PublicationsCorresponds to variant dbSNP:rs121913355EnsemblClinVar.1
Natural variantiVAR_018621469G → E in CFC1 and colon cancer. 5 PublicationsCorresponds to variant dbSNP:rs121913355EnsemblClinVar.1
Natural variantiVAR_018622469G → R in NHL. 1 PublicationCorresponds to variant dbSNP:rs121913357EnsemblClinVar.1
Natural variantiVAR_040392469G → V in a colorectal adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121913355EnsemblClinVar.1
Natural variantiVAR_026115485L → F in CFC1. 3 PublicationsCorresponds to variant dbSNP:rs180177036EnsemblClinVar.1
Natural variantiVAR_026116499K → E in CFC1. 3 PublicationsCorresponds to variant dbSNP:rs180177037EnsemblClinVar.1
Natural variantiVAR_058625499K → N in CFC1. 2 PublicationsCorresponds to variant dbSNP:rs397507476EnsemblClinVar.1
Natural variantiVAR_026117501E → G in CFC1. 2 PublicationsCorresponds to variant dbSNP:rs180177039EnsemblClinVar.1
Natural variantiVAR_026118501E → K in CFC1. 3 PublicationsCorresponds to variant dbSNP:rs180177038EnsemblClinVar.1
Natural variantiVAR_058626525L → P in CFC1. 1 PublicationCorresponds to variant dbSNP:rs869025340EnsemblClinVar.1
Natural variantiVAR_058627531W → C in NS7. 1 PublicationCorresponds to variant dbSNP:rs606231228EnsemblClinVar.1
Natural variantiVAR_065173580N → D in CFC1. 1 Publication1
Natural variantiVAR_026119581N → D in CFC1. 3 PublicationsCorresponds to variant dbSNP:rs180177040EnsemblClinVar.1
Natural variantiVAR_040393581N → S in a colorectal adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121913370EnsemblClinVar.1
Natural variantiVAR_018623586E → K in ovarian cancer. 1 PublicationCorresponds to variant dbSNP:rs121913340EnsemblClinVar.1
Natural variantiVAR_018624594D → G in NHL. 1 PublicationCorresponds to variant dbSNP:rs121913338EnsemblClinVar.1
Natural variantiVAR_018625595F → L in colon cancer and CFC1. 4 PublicationsCorresponds to variant dbSNP:rs121913341EnsemblClinVar.1
Natural variantiVAR_018626596G → R in a colorectal adenocarcinoma sample; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs121913361EnsemblClinVar.1
Natural variantiVAR_035098596G → V in CFC1. 1 PublicationCorresponds to variant dbSNP:rs397507483EnsemblClinVar.1
Natural variantiVAR_018513597L → R in LNCR; also found in an ovarian serous carcinoma sample; somatic mutation. 3 PublicationsCorresponds to variant dbSNP:rs121913366EnsemblClinVar.1
Natural variantiVAR_018627597L → V in NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation. 3 PublicationsCorresponds to variant dbSNP:rs121913369EnsemblClinVar.1
Natural variantiVAR_058628599T → R in CFC1. 1 Publication