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UniProtKB - P01111 (RASN_HUMAN)

Entry version 227 (11 Dec 2019)
Sequence version 1 (21 Jul 1986)
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Protein

GTPase NRas

Gene

NRAS

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

Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.1 Publication

Miscellaneous

Mutations which change AA 12, 13 or 61 activate the potential of Ras to transform cultured cells and are implicated in a variety of human tumors.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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

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)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 bindingi10 – 18GTP1 Publication9
Nucleotide bindingi29 – 30GTP1 Publication2
Nucleotide bindingi57 – 61GTPSequence analysis5
Nucleotide bindingi116 – 119GTP1 Publication4

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-112412 SOS-mediated signalling
R-HSA-1169092 Activation of RAS in B cells
R-HSA-1236382 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
R-HSA-1250196 SHC1 events in ERBB2 signaling
R-HSA-1250347 SHC1 events in ERBB4 signaling
R-HSA-1433557 Signaling by SCF-KIT
R-HSA-167044 Signalling to RAS
R-HSA-171007 p38MAPK events
R-HSA-179812 GRB2 events in EGFR signaling
R-HSA-180336 SHC1 events in EGFR signaling
R-HSA-186763 Downstream signal transduction
R-HSA-1963640 GRB2 events in ERBB2 signaling
R-HSA-210993 Tie2 Signaling
R-HSA-2179392 EGFR Transactivation by Gastrin
R-HSA-2424491 DAP12 signaling
R-HSA-2428933 SHC-related events triggered by IGF1R
R-HSA-2871796 FCERI mediated MAPK activation
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-442982 Ras activation upon Ca2+ influx through NMDA receptor
R-HSA-5218921 VEGFR2 mediated cell proliferation
R-HSA-5621575 CD209 (DC-SIGN) signaling
R-HSA-5637810 Constitutive Signaling by EGFRvIII
R-HSA-5654688 SHC-mediated cascade:FGFR1
R-HSA-5654693 FRS-mediated FGFR1 signaling
R-HSA-5654699 SHC-mediated cascade:FGFR2
R-HSA-5654700 FRS-mediated FGFR2 signaling
R-HSA-5654704 SHC-mediated cascade:FGFR3
R-HSA-5654706 FRS-mediated FGFR3 signaling
R-HSA-5654712 FRS-mediated FGFR4 signaling
R-HSA-5654719 SHC-mediated cascade:FGFR4
R-HSA-5655253 Signaling by FGFR2 in disease
R-HSA-5655291 Signaling by FGFR4 in disease
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-5658442 Regulation of RAS by GAPs
R-HSA-5673000 RAF activation
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5674135 MAP2K and MAPK activation
R-HSA-5675221 Negative regulation of MAPK pathway
R-HSA-6798695 Neutrophil degranulation
R-HSA-6802946 Signaling by moderate kinase activity BRAF mutants
R-HSA-6802948 Signaling by high-kinase activity BRAF mutants
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-6802953 RAS signaling downstream of NF1 loss-of-function variants
R-HSA-6802955 Paradoxical activation of RAF signaling by kinase inactive BRAF
R-HSA-74751 Insulin receptor signalling cascade
R-HSA-8849471 PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
R-HSA-8851805 MET activates RAS signaling
R-HSA-8853334 Signaling by FGFR3 fusions in cancer
R-HSA-8853338 Signaling by FGFR3 point mutants in cancer
R-HSA-9026519 Activated NTRK2 signals through RAS
R-HSA-9027284 Erythropoietin activates RAS
R-HSA-9028731 Activated NTRK2 signals through FRS2 and FRS3
R-HSA-9034864 Activated NTRK3 signals through RAS
R-HSA-9607240 FLT3 Signaling
R-HSA-9634635 Estrogen-stimulated signaling through PRKCZ
R-HSA-9649913 RAS GTPase cycle mutants
R-HSA-9649948 Signaling downstream of RAS mutants

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

More...SignaLinki		P01111

SIGNOR Signaling Network Open Resource

More...SIGNORi		P01111

<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:
GTPase NRas
Alternative name(s):
Transforming protein N-Ras
<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:NRAS
Synonyms:HRAS1
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000213281.4

Human Gene Nomenclature Database

More...HGNCi		HGNC:7989 NRAS

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		164790 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P01111

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Golgi apparatus, Membrane

<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

Leukemia, juvenile myelomonocytic (JMML)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
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_07112912G → D in KNEN and JMML. 2 PublicationsCorresponds to variant dbSNP:rs121913237EnsemblClinVar.1
Natural variantiVAR_06308413G → D in RALD and JMML. 2 PublicationsCorresponds to variant dbSNP:rs121434596EnsemblClinVar.1
Noonan syndrome 6 (NS6)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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06308550T → I in NS6; hypermorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs267606921EnsemblClinVar.1
Natural variantiVAR_06308660G → E in NS6; hypermorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs267606920EnsemblClinVar.1
RAS-associated autoimmune leukoproliferative disorder (RALD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of apoptosis, characterized by chronic accumulation of non-malignant lymphocytes, defective lymphocyte apoptosis, and an increased risk for the development of hematologic malignancies.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06308413G → D in RALD and JMML. 2 PublicationsCorresponds to variant dbSNP:rs121434596EnsemblClinVar.1
Melanocytic nevus syndrome, congenital (CMNS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by congenital pigmentary skin lesions which can occur at any site and can cover most of the body surface. These lesions may or may not be hairy. Congenital melanocytic nevi are associated with neuromelanosis (the presence of melanin-producing cells within the brain parenchyma or leptomeninges). Less commonly they are associated with malignant melanoma in childhood, both in the skin and the central nervous system. CMNS patients also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00684513G → R in CMNS and colorectal cancer; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs121434595EnsemblClinVar.1
Natural variantiVAR_00684661Q → K in CMNS and NCMS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121913254EnsemblClinVar.1
Natural variantiVAR_00684761Q → R in CMNS, NCMS, KNEN and NMTC2; also found in lung carcinoma cell and melanoma; impaired GTP hydrolysis activity, trapping NRAS in a constitutive GTP-bound active conformation; promotes melanomagenesis. 6 PublicationsCorresponds to variant dbSNP:rs11554290EnsemblClinVar.1
Melanosis, neurocutaneous (NCMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare congenital disease characterized by the presence of giant or multiple melanocytic nevi on the skin, foci of melanin-producing cells within the brain parenchyma, and infiltration of leptomeninges by abnormal melanin deposits. Neurologic abnormalities include seizures, hydrocephalus, arachnoid cysts, tumors, and syringomyelia. Some patients may develop malignant melanoma.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00684661Q → K in CMNS and NCMS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121913254EnsemblClinVar.1
Keratinocytic non-epidermolytic nevus (KNEN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionEpidermal nevi of the common, non-organoid and non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07112912G → D in KNEN and JMML. 2 PublicationsCorresponds to variant dbSNP:rs121913237EnsemblClinVar.1
Natural variantiVAR_07113034P → L in KNEN. 1 PublicationCorresponds to variant dbSNP:rs397514553EnsemblClinVar.1
Thyroid cancer, non-medullary, 2 (NMTC2)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00684761Q → R in CMNS, NCMS, KNEN and NMTC2; also found in lung carcinoma cell and melanoma; impaired GTP hydrolysis activity, trapping NRAS in a constitutive GTP-bound active conformation; promotes melanomagenesis. 6 PublicationsCorresponds to variant dbSNP:rs11554290EnsemblClinVar.1

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>Mutagenesisi89S → A: Abolished phosphorylation by STK19. 1 Publication1
Mutagenesisi164R → A: Loss of GTP-binding activity. 1
Mutagenesisi181C → S: Loss of plasma membrane localization. 1 Publication1

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNET

More...DisGeNETi		4893

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

More...GeneReviewsi		NRAS

MalaCards human disease database

More...MalaCardsi		NRAS
MIMi137550 phenotype
162900 phenotype
188470 phenotype
249400 phenotype
607785 phenotype
613224 phenotype
614470 phenotype

Open Targets

More...OpenTargetsi		ENSG00000213281

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

More...Orphaneti		146 Differentiated thyroid carcinoma
86834 Juvenile myelomonocytic leukemia
626 Large congenital melanocytic nevus
2612 Linear nevus sebaceus syndrome
411533 NON RARE IN EUROPE: Melanoma
648 Noonan syndrome
268114 RAS-associated autoimmune leukoproliferative disease
357194 Selection of therapeutic option in colorectal cancer
544260 Selection of therapeutic option in melanoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31768

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P01111 Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2079845

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		2823

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NRAS

Domain mapping of disease mutations (DMDM)

More...DMDMi		131883

<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 ‘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_00000430061 – 186GTPase NRasAdd BLAST186
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_0000043007187 – 189Removed in mature formBy similarity3

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 residuei89Phosphoserine; by STK191 Publication1
<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-linki170Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi181S-palmitoyl cysteine3 Publications1
Lipidationi186S-farnesyl cysteine1 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

Palmitoylated by the ZDHHC9-GOLGA7 complex (PubMed:16000296). Depalmitoylated by ABHD17A, ABHD17B and ABHD17C (PubMed:26701913). A continuous cycle of de- and re-palmitoylation regulates rapid exchange between plasma membrane and Golgi (PubMed:16000296, PubMed:15705808, PubMed:2661017, PubMed:26701913).4 Publications
Acetylation at Lys-104 prevents interaction with guanine nucleotide exchange factors (GEFs).By similarity
Ubiquitinated by the BCR(LZTR1) E3 ubiquitin ligase complex at Lys-170 in a non-degradative manner, leading to inhibit Ras signaling by decreasing Ras association with membranes.1 Publication
Phosphorylation at Ser-89 by STK19 enhances NRAS-association with its downstream effectors.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Lipoprotein, Methylation, Palmitate, Phosphoprotein, Prenylation, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P01111

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P01111

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P01111

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

More...PaxDbi		P01111

PeptideAtlas

More...PeptideAtlasi		P01111

PRoteomics IDEntifications database

More...PRIDEi		P01111

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		51320

2D gel databases

USC-OGP 2-DE database

More...OGPi		P01111

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P01111

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

More...PhosphoSitePlusi		P01111

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P01111

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000213281 Expressed in 217 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P01111 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P01111 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB010157
HPA049830

<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

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

Interacts (active GTP-bound form) with RASSF7 (PubMed:21278800).

By similarity1 Publication

<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

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Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		110952, 626 interactors

Database of interacting proteins

More...DIPi		DIP-1058N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P01111

Protein interaction database and analysis system

More...IntActi		P01111, 59 interactors

Molecular INTeraction database

More...MINTi		P01111

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000358548

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P01111

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P01111 protein

<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

1189
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P01111

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P01111

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni166 – 185Hypervariable regionAdd BLAST20

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi32 – 40Effector region9

<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

Belongs to the small GTPase superfamily. Ras family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0395 Eukaryota
COG1100 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158947

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000233973

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P01111

KEGG Orthology (KO)

More...KOi		K07828

Identification of Orthologs from Complete Genome Data

More...OMAi		NQGCMGL

Database of Orthologous Groups

More...OrthoDBi		1344247at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P01111

TreeFam database of animal gene trees

More...TreeFami		TF312796

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
IPR020849 Small_GTPase_Ras-type

The PANTHER Classification System

More...PANTHERi		PTHR24070 PTHR24070, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00071 Ras, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00231 small_GTP, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51421 RAS, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<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.

P01111-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTEYKLVVVG AGGVGKSALT IQLIQNHFVD EYDPTIEDSY RKQVVIDGET 
        60         70         80         90        100
CLLDILDTAG QEEYSAMRDQ YMRTGEGFLC VFAINNSKSF ADINLYREQI 
       110        120        130        140        150
KRVKDSDDVP MVLVGNKCDL PTRTVDTKQA HELAKSYGIP FIETSAKTRQ 
       160        170        180 
GVEDAFYTLV REIRQYRMKK LNSSDDGTQG CMGLPCVVM
Length:189
Mass (Da):21,229
Last modified:July 21, 1986 - v1
<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:i6898D3F6815B1EC7
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02119412G → C in leukemia. 1 PublicationCorresponds to variant dbSNP:rs121913250EnsemblClinVar.1
Natural variantiVAR_07112912G → D in KNEN and JMML. 2 PublicationsCorresponds to variant dbSNP:rs121913237EnsemblClinVar.1
Natural variantiVAR_06308413G → D in RALD and JMML. 2 PublicationsCorresponds to variant dbSNP:rs121434596EnsemblClinVar.1
Natural variantiVAR_00684513G → R in CMNS and colorectal cancer; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs121434595EnsemblClinVar.1
Natural variantiVAR_07113034P → L in KNEN. 1 PublicationCorresponds to variant dbSNP:rs397514553EnsemblClinVar.1
Natural variantiVAR_06308550T → I in NS6; hypermorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs267606921EnsemblClinVar.1
Natural variantiVAR_06308660G → E in NS6; hypermorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs267606920EnsemblClinVar.1
Natural variantiVAR_00684661Q → K in CMNS and NCMS; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121913254EnsemblClinVar.1
Natural variantiVAR_00684761Q → R in CMNS, NCMS, KNEN and NMTC2; also found in lung carcinoma cell and melanoma; impaired GTP hydrolysis activity, trapping NRAS in a constitutive GTP-bound active conformation; promotes melanomagenesis. 6 PublicationsCorresponds to variant dbSNP:rs11554290EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X02751 mRNA Translation: CAA26529.1
X00642 Genomic DNA Translation: CAA25269.1
X00643 Genomic DNA Translation: CAA25270.1
X00644 Genomic DNA Translation: CAA25271.1
X00645 Genomic DNA Translation: CAA25272.1
L00043 L00042 Genomic DNA Translation: AAA60255.1
AF493919 mRNA Translation: AAM12633.1
AY428630 Genomic DNA Translation: AAQ94397.1
BC005219 mRNA Translation: AAH05219.1
M25898 Genomic DNA Translation: AAA36548.1
X53291, X53292 Genomic DNA Translation: CAA37384.1
K03211, M10055 Genomic DNA Translation: AAA36556.1
X05565 Genomic DNA Translation: CAA29079.1
X07440 Genomic DNA Translation: CAA30320.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS877.1

Protein sequence database of the Protein Information Resource

More...PIRi		A90839 TVHURA
I38149

NCBI Reference Sequences

More...RefSeqi		NP_002515.1, NM_002524.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000369535; ENSP00000358548; ENSG00000213281

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4893

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4893

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NRASbase

NRAS mutation db

NIEHS-SNPs
Wikipedia

RAS proteins entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X02751 mRNA Translation: CAA26529.1
X00642 Genomic DNA Translation: CAA25269.1
X00643 Genomic DNA Translation: CAA25270.1
X00644 Genomic DNA Translation: CAA25271.1
X00645 Genomic DNA Translation: CAA25272.1
L00043 L00042 Genomic DNA Translation: AAA60255.1
AF493919 mRNA Translation: AAM12633.1
AY428630 Genomic DNA Translation: AAQ94397.1
BC005219 mRNA Translation: AAH05219.1
M25898 Genomic DNA Translation: AAA36548.1
X53291, X53292 Genomic DNA Translation: CAA37384.1
K03211, M10055 Genomic DNA Translation: AAA36556.1
X05565 Genomic DNA Translation: CAA29079.1
X07440 Genomic DNA Translation: CAA30320.1
CCDSiCCDS877.1
PIRiA90839 TVHURA
I38149
RefSeqiNP_002515.1, NM_002524.4

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2N9CNMR-A1-17[»]
3CONX-ray1.65A1-172[»]
5UHVX-ray1.67A1-166[»]
6E6HX-ray1.99A1-166[»]
SMRiP01111
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi110952, 626 interactors
DIPiDIP-1058N
ELMiP01111
IntActiP01111, 59 interactors
MINTiP01111
STRINGi9606.ENSP00000358548

Chemistry databases

BindingDBiP01111
ChEMBLiCHEMBL2079845
GuidetoPHARMACOLOGYi2823

PTM databases

iPTMnetiP01111
PhosphoSitePlusiP01111
SwissPalmiP01111

Polymorphism and mutation databases

BioMutaiNRAS
DMDMi131883

2D gel databases

OGPiP01111

Proteomic databases

EPDiP01111
jPOSTiP01111
MassIVEiP01111
PaxDbiP01111
PeptideAtlasiP01111
PRIDEiP01111
ProteomicsDBi51320

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		4893

Genome annotation databases

EnsembliENST00000369535; ENSP00000358548; ENSG00000213281
GeneIDi4893
KEGGihsa:4893

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4893
DisGeNETi4893
EuPathDBiHostDB:ENSG00000213281.4

GeneCards: human genes, protein and diseases

More...GeneCardsi		NRAS
GeneReviewsiNRAS
HGNCiHGNC:7989 NRAS
HPAiCAB010157
HPA049830
MalaCardsiNRAS
MIMi137550 phenotype
162900 phenotype
164790 gene
188470 phenotype
249400 phenotype
607785 phenotype
613224 phenotype
614470 phenotype
neXtProtiNX_P01111
OpenTargetsiENSG00000213281
Orphaneti146 Differentiated thyroid carcinoma
86834 Juvenile myelomonocytic leukemia
626 Large congenital melanocytic nevus
2612 Linear nevus sebaceus syndrome
411533 NON RARE IN EUROPE: Melanoma
648 Noonan syndrome
268114 RAS-associated autoimmune leukoproliferative disease
357194 Selection of therapeutic option in colorectal cancer
544260 Selection of therapeutic option in melanoma
PharmGKBiPA31768

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0395 Eukaryota
COG1100 LUCA
GeneTreeiENSGT00940000158947
HOGENOMiHOG000233973
InParanoidiP01111
KOiK07828
OMAiNQGCMGL
OrthoDBi1344247at2759
PhylomeDBiP01111
TreeFamiTF312796

Enzyme and pathway databases

ReactomeiR-HSA-112412 SOS-mediated signalling
R-HSA-1169092 Activation of RAS in B cells
R-HSA-1236382 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
R-HSA-1250196 SHC1 events in ERBB2 signaling
R-HSA-1250347 SHC1 events in ERBB4 signaling
R-HSA-1433557 Signaling by SCF-KIT
R-HSA-167044 Signalling to RAS
R-HSA-171007 p38MAPK events
R-HSA-179812 GRB2 events in EGFR signaling
R-HSA-180336 SHC1 events in EGFR signaling
R-HSA-186763 Downstream signal transduction
R-HSA-1963640 GRB2 events in ERBB2 signaling
R-HSA-210993 Tie2 Signaling
R-HSA-2179392 EGFR Transactivation by Gastrin
R-HSA-2424491 DAP12 signaling
R-HSA-2428933 SHC-related events triggered by IGF1R
R-HSA-2871796 FCERI mediated MAPK activation
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-442982 Ras activation upon Ca2+ influx through NMDA receptor
R-HSA-5218921 VEGFR2 mediated cell proliferation
R-HSA-5621575 CD209 (DC-SIGN) signaling
R-HSA-5637810 Constitutive Signaling by EGFRvIII
R-HSA-5654688 SHC-mediated cascade:FGFR1
R-HSA-5654693 FRS-mediated FGFR1 signaling
R-HSA-5654699 SHC-mediated cascade:FGFR2
R-HSA-5654700 FRS-mediated FGFR2 signaling
R-HSA-5654704 SHC-mediated cascade:FGFR3
R-HSA-5654706 FRS-mediated FGFR3 signaling
R-HSA-5654712 FRS-mediated FGFR4 signaling
R-HSA-5654719 SHC-mediated cascade:FGFR4
R-HSA-5655253 Signaling by FGFR2 in disease
R-HSA-5655291 Signaling by FGFR4 in disease
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-5658442 Regulation of RAS by GAPs
R-HSA-5673000 RAF activation
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5674135 MAP2K and MAPK activation
R-HSA-5675221 Negative regulation of MAPK pathway
R-HSA-6798695 Neutrophil degranulation
R-HSA-6802946 Signaling by moderate kinase activity BRAF mutants
R-HSA-6802948 Signaling by high-kinase activity BRAF mutants
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-6802953 RAS signaling downstream of NF1 loss-of-function variants
R-HSA-6802955 Paradoxical activation of RAF signaling by kinase inactive BRAF
R-HSA-74751 Insulin receptor signalling cascade
R-HSA-8849471 PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
R-HSA-8851805 MET activates RAS signaling
R-HSA-8853334 Signaling by FGFR3 fusions in cancer
R-HSA-8853338 Signaling by FGFR3 point mutants in cancer
R-HSA-9026519 Activated NTRK2 signals through RAS
R-HSA-9027284 Erythropoietin activates RAS
R-HSA-9028731 Activated NTRK2 signals through FRS2 and FRS3
R-HSA-9034864 Activated NTRK3 signals through RAS
R-HSA-9607240 FLT3 Signaling
R-HSA-9634635 Estrogen-stimulated signaling through PRKCZ
R-HSA-9649913 RAS GTPase cycle mutants
R-HSA-9649948 Signaling downstream of RAS mutants
SignaLinkiP01111
SIGNORiP01111

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		NRAS human
EvolutionaryTraceiP01111

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Neuroblastoma_RAS_viral_oncogene_homolog

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		4893
PharosiP01111 Tchem

Protein Ontology

More...PROi		PR:P01111
RNActiP01111 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000213281 Expressed in 217 organ(s), highest expression level in testis
ExpressionAtlasiP01111 baseline and differential
GenevisibleiP01111 HS

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
IPR020849 Small_GTPase_Ras-type
PANTHERiPTHR24070 PTHR24070, 1 hit
PfamiView protein in Pfam
PF00071 Ras, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51421 RAS, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRASN_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P01111
Secondary accession number(s): Q14971, Q15104, Q15282
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: July 21, 1986
Last modified: December 11, 2019
This is version 227 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

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