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Protein

Neurofibromin

Gene

NF1

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

Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.2 Publications

Caution

Was originally thought to be associated with LEOPARD (LS), an autosomal dominant syndrome.1 Publication

<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 functionGTPase activation
LigandLipid-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5658442 Regulation of RAS by GAPs
R-HSA-6802949 Signaling by RAS mutants
R-HSA-6802953 RAS signaling downstream of NF1 loss-of-function variants

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

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SignaLinki
P21359

SIGNOR Signaling Network Open Resource

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SIGNORi
P21359

<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:
Neurofibromin
Alternative name(s):
Neurofibromatosis-related protein NF-1
Cleaved into the following chain:
<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:NF1
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000196712.16

Human Gene Nomenclature Database

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HGNCi
HGNC:7765 NF1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613113 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P21359

<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

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

Neurofibromatosis 1 (NF1)33 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors.
See also OMIM:162200
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_03245931H → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474725EnsemblClinVar.1
Natural variantiVAR_02173082S → F in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474729EnsemblClinVar.1
Natural variantiVAR_07166893C → W in NF1. 1 Publication1
Natural variantiVAR_01755193C → Y in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474728EnsemblClinVar.1
Natural variantiVAR_010989117I → S in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474731EnsemblClinVar.1
Natural variantiVAR_032460145L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474734EnsemblClinVar.1
Natural variantiVAR_021731157I → N in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474744EnsemblClinVar.1
Natural variantiVAR_065888160R → T in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474752EnsemblClinVar.1
Natural variantiVAR_032461186D → V in NF1; reduced splicing enhancement. 1 Publication1
Natural variantiVAR_021732216L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474756EnsemblClinVar.1
Natural variantiVAR_032463324C → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474735EnsemblClinVar.1
Natural variantiVAR_032464337E → V in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474736EnsemblClinVar.1
Natural variantiVAR_010990338D → G in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474773EnsemblClinVar.1
Natural variantiVAR_021733357L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs137854563EnsemblClinVar.1
Natural variantiVAR_032465489Y → C in NF1. 1 PublicationCorresponds to variant dbSNP:rs137854557EnsemblClinVar.1
Natural variantiVAR_021734491Y → C in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474757EnsemblClinVar.1
Natural variantiVAR_010991508L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs137854558EnsemblClinVar.1
Natural variantiVAR_032466532L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474737EnsemblClinVar.1
Natural variantiVAR_021735549L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474758EnsemblClinVar.1
Natural variantiVAR_032467574S → R in NF1. 1 Publication1
Natural variantiVAR_021736578L → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474774EnsemblClinVar.1
Natural variantiVAR_021737581I → T in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474759EnsemblClinVar.1
Natural variantiVAR_021738583K → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474760EnsemblClinVar.1
Natural variantiVAR_017553604L → V in NF1. 1 PublicationCorresponds to variant dbSNP:rs142712751EnsemblClinVar.1
Natural variantiVAR_002653629G → R in NF1; affects splicing by creating a novel splice acceptor site. 3 PublicationsCorresponds to variant dbSNP:rs199474738EnsemblClinVar.1
Natural variantiVAR_021739665S → F in NF1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs145891889EnsemblClinVar.1
Natural variantiVAR_021740695L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474761EnsemblClinVar.1
Natural variantiVAR_021741763L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474762EnsemblClinVar.1
Natural variantiVAR_021742765R → H in NF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199474777EnsemblClinVar.1
Natural variantiVAR_021743777W → S in NF1. 2 PublicationsCorresponds to variant dbSNP:rs199474745EnsemblClinVar.1
Natural variantiVAR_021744780T → K in NF1. 4 PublicationsCorresponds to variant dbSNP:rs199474746EnsemblClinVar.1
Natural variantiVAR_021745781H → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474763EnsemblClinVar.1
Natural variantiVAR_021746784W → C in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474778EnsemblClinVar.1
Natural variantiVAR_021747784W → R in NF1. 2 PublicationsCorresponds to variant dbSNP:rs199474730EnsemblClinVar.1
Natural variantiVAR_010992844L → F in NF1. 2 PublicationsCorresponds to variant dbSNP:rs199474785EnsemblClinVar.1
Natural variantiVAR_032468844L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs137854566EnsemblClinVar.1
Natural variantiVAR_002654844L → R in NF1; sporadic. 3 PublicationsCorresponds to variant dbSNP:rs137854566EnsemblClinVar.1
Natural variantiVAR_021748847L → P in NF1. 3 PublicationsCorresponds to variant dbSNP:rs199474747EnsemblClinVar.1
Natural variantiVAR_021749848G → E in NF1. 2 PublicationsCorresponds to variant dbSNP:rs199474748EnsemblClinVar.1
Natural variantiVAR_002655898L → P in NF1; sporadic. 2 PublicationsCorresponds to variant dbSNP:rs199474786EnsemblClinVar.1
Natural variantiVAR_021750920L → P in NF1; patient with cafe-au-lait spots; may be a distinct form of NF1. 1 PublicationCorresponds to variant dbSNP:rs199474775EnsemblClinVar.1
Natural variantiVAR_021751968M → R in NF1. 2 PublicationsCorresponds to variant dbSNP:rs199474749EnsemblClinVar.1
Natural variantiVAR_002656991Missing in NF1; most patients carrying the mutation do not manifest cutaneous neurofibromas. 3 Publications1
Natural variantiVAR_0026571035M → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs137854553EnsemblClinVar.1
Natural variantiVAR_0716691048W → R in NF1. 1 Publication1
Natural variantiVAR_0324701073M → V in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474740EnsemblClinVar.1
Natural variantiVAR_0217521147L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474779EnsemblClinVar.1
Natural variantiVAR_0217531156N → S in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474764EnsemblClinVar.1
Natural variantiVAR_0109931166G → D in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474787EnsemblClinVar.1
Natural variantiVAR_0716701189Q → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs752039618EnsemblClinVar.1
Natural variantiVAR_0217541193F → C in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474780EnsemblClinVar.1
Natural variantiVAR_0324711196L → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474741EnsemblClinVar.1
Natural variantiVAR_0217551204R → G in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474732EnsemblClinVar.1
Natural variantiVAR_0109941204R → W in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474732EnsemblClinVar.1
Natural variantiVAR_0324721243L → P in NF1; with neurofibromatous neuropathy. 1 PublicationCorresponds to variant dbSNP:rs137854564EnsemblClinVar.1
Natural variantiVAR_0217561250R → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474765EnsemblClinVar.1
Natural variantiVAR_0324731276R → G in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474742EnsemblClinVar.1
Natural variantiVAR_0109951276R → P in NF1; complete loss of GAP activity. 2 PublicationsCorresponds to variant dbSNP:rs137854556EnsemblClinVar.1
Natural variantiVAR_0109961412R → S in NF1; significant reduction of GAP activity. 1 PublicationCorresponds to variant dbSNP:rs137854554Ensembl.1
Natural variantiVAR_0324741430K → E in NF1. 1 Publication1
Natural variantiVAR_0109971440K → Q in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474790EnsemblClinVar.1
Natural variantiVAR_0026581440K → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474788EnsemblClinVar.1
Natural variantiVAR_0217571444K → N in NF1. 2 PublicationsCorresponds to variant dbSNP:rs199474750EnsemblClinVar.1
Natural variantiVAR_0217581444K → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474781EnsemblClinVar.1
Natural variantiVAR_0081291446L → P in NF1. 3 PublicationsCorresponds to variant dbSNP:rs199474733EnsemblClinVar.1
Natural variantiVAR_0109981489S → G in NF1. 2 PublicationsCorresponds to variant dbSNP:rs199474743EnsemblClinVar.1
Natural variantiVAR_0217591605I → V in NF1; reduces protein stability. 2 PublicationsCorresponds to variant dbSNP:rs199474766EnsemblClinVar.1
Natural variantiVAR_0026601611R → W in NF1. 1 PublicationCorresponds to variant dbSNP:rs1060500316Ensembl.1
Natural variantiVAR_0026611733L → LGHEQQKLPAATLAL in NF1. 1 Publication1
Natural variantiVAR_0217601785A → S in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474782EnsemblClinVar.1
Natural variantiVAR_0026621952W → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474791EnsemblClinVar.1
Natural variantiVAR_0026631953L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474792EnsemblClinVar.1
Natural variantiVAR_0217611953Missing in NF1. 2 Publications1
Natural variantiVAR_0217622001G → R in NF1. 2 PublicationsCorresponds to variant dbSNP:rs199474751EnsemblClinVar.1
Natural variantiVAR_0217632012D → N in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474783EnsemblClinVar.1
Natural variantiVAR_0716712125L → P in NF1. 1 Publication1
Natural variantiVAR_0026642164L → M in NF1. 1 PublicationCorresponds to variant dbSNP:rs137854551Ensembl.1
Natural variantiVAR_0026652192Y → N in NF1. 1 PublicationCorresponds to variant dbSNP:rs267606598Ensembl.1
Natural variantiVAR_0217642221P → A in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474776EnsemblClinVar.1
Natural variantiVAR_0217652357E → K in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474784EnsemblClinVar.1
Natural variantiVAR_0026662387 – 2388Missing in NF1. 2 Publications2
Natural variantiVAR_0217662507T → I in NF1. 1 PublicationCorresponds to variant dbSNP:rs149055633EnsemblClinVar.1
Natural variantiVAR_0026672631T → A in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474793EnsemblClinVar.1
Isoform 1 (identifier: P21359-2)
Natural varianti1661C → R in NF1. 1 Publication1
Natural varianti1918I → T in NF1. 1 Publication1
Leukemia, juvenile myelomonocytic (JMML)
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.
See also OMIM:607785
Watson syndrome (WTSN)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis.
See also OMIM:193520
Familial spinal neurofibromatosis (FSNF)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionConsidered to be an alternative form of neurofibromatosis, showing multiple spinal tumors.
See also OMIM:162210
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0176692088L → P in FSNF; no cafe-au-lait macules; null mutation; 50% reduction of protein level. 1 PublicationCorresponds to variant dbSNP:rs137854561Ensembl.1
Neurofibromatosis-Noonan syndrome (NFNS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.
See also OMIM:601321
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032462194L → R in NFNS. 1 PublicationCorresponds to variant dbSNP:rs199474753EnsemblClinVar.1
Natural variantiVAR_0652361411L → F in NFNS. 1 PublicationCorresponds to variant dbSNP:rs199474789Ensembl.1
Natural variantiVAR_0324751451N → T in NFNS. 1 PublicationCorresponds to variant dbSNP:rs199474754EnsemblClinVar.1
Natural variantiVAR_0324761453V → L in NFNS. 1 PublicationCorresponds to variant dbSNP:rs199474755EnsemblClinVar.1
Natural variantiVAR_0324771459Missing in NFNS. 3 Publications1
Colorectal cancer (CRC)
The gene represented in this entry may be involved in disease pathogenesis.
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

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>Mutagenesisi1691K → A: Reduces phospholipid binding; when associated with A-1695; A-1769 and A-1771. 1 Publication1
Mutagenesisi1695R → A: Reduces phospholipid binding; when associated with A-1691; A-1769 and A-1771. 1 Publication1
Mutagenesisi1769R → A: Reduces phospholipid binding; when associated with A-1691; A-1695 and A-1771. 1 Publication1
Mutagenesisi1771K → A: Reduces phospholipid binding; when associated with A-1691; A-169 and A-1769. 2 Publications1
Mutagenesisi1771Missing : Reduces protein stability. 2 Publications1

Keywords - Diseasei

Disease mutation, Tumor suppressor

Organism-specific databases

DisGeNET

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DisGeNETi
4763

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

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GeneReviewsi
NF1

MalaCards human disease database

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MalaCardsi
NF1
MIMi114500 phenotype
162200 phenotype
162210 phenotype
193520 phenotype
601321 phenotype
607785 phenotype

Open Targets

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OpenTargetsi
ENSG00000196712

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

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Orphaneti
97685 17q11 microdeletion syndrome
139474 17q11.2 microduplication syndrome
86834 Juvenile myelomonocytic leukemia
363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
638 Neurofibromatosis-Noonan syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31572

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
NF1

Domain mapping of disease mutations (DMDM)

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DMDMi
548350

<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 methionineiRemovedBy similarity
<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_00000107732 – 2839NeurofibrominAdd BLAST2838
ChainiPRO_00000107742 – 1305Neurofibromin truncatedAdd BLAST1304

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-acetylalanineBy similarity1
Modified residuei864PhosphoserineCombined sources1
Modified residuei876PhosphoserineCombined sources1
Modified residuei2188PhosphoserineCombined sources1
Modified residuei2467PhosphoserineBy similarity1
Modified residuei2514PhosphothreonineBy similarity1
Modified residuei2515PhosphoserineCombined sources1
Modified residuei2521PhosphoserineCombined sources1
Modified residuei2523PhosphoserineCombined sources1
Modified residuei2543PhosphoserineCombined sources1
Modified residuei2565PhosphothreonineCombined sources1
Modified residuei2597PhosphoserineCombined sources1
Modified residuei2802PhosphoserineCombined sources1
Modified residuei2817PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P21359

MaxQB - The MaxQuant DataBase

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MaxQBi
P21359

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

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PaxDbi
P21359

PeptideAtlas

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PeptideAtlasi
P21359

PRoteomics IDEntifications database

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PRIDEi
P21359

ProteomicsDB human proteome resource

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ProteomicsDBi
53861
53862 [P21359-2]
53863 [P21359-3]
53864 [P21359-4]
53865 [P21359-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P21359

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

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PhosphoSitePlusi
P21359

<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

Detected in brain, peripheral nerve, lung, colon and muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000196712 Expressed in 224 organ(s), highest expression level in kidney

CleanEx database of gene expression profiles

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CleanExi
HS_NF1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P21359 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P21359 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA045502

<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 with HTR6 (PubMed:23027611).1 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110836, 113 interactors

Protein interaction database and analysis system

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IntActi
P21359, 13 interactors

Molecular INTeraction database

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MINTi
P21359

STRING: functional protein association networks

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STRINGi
9606.ENSP00000351015

<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

12839
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P21359

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

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SMRi
P21359

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
P21359

<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>Domaini1235 – 1451Ras-GAPPROSITE-ProRule annotationAdd BLAST217
Domaini1580 – 1738CRAL-TRIOPROSITE-ProRule annotationAdd BLAST159

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>Regioni1580 – 1837Lipid bindingAdd BLAST258

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>Motifi2555 – 2571Bipartite nuclear localization signalAdd BLAST17

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 biasi1352 – 1355Poly-Ser4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Binds phospholipids via its C-terminal CRAL-TRIO domain. Binds primarily glycerophospholipids with monounsaturated C18:1 and/or C16:1 fatty acid moieties and a phosphatidylethanolamine or phosphatidylcholine headgroup. Has lesser affinity for lipids containing phosphatidylserine and phosphatidylinositol.3 Publications

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1826 Eukaryota
ENOG410XRPJ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00550000074797

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000047020

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG053884

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P21359

KEGG Orthology (KO)

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KOi
K08052

Identification of Orthologs from Complete Genome Data

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OMAi
VITRMCR

Database of Orthologous Groups

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OrthoDBi
EOG091G03FI

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P21359

TreeFam database of animal gene trees

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TreeFami
TF300302

Family and domain databases

Conserved Domains Database

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CDDi
cd00170 SEC14, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.30.29.30, 1 hit
3.40.525.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016024 ARM-type_fold
IPR001251 CRAL-TRIO_dom
IPR036865 CRAL-TRIO_dom_sf
IPR011993 PH-like_dom_sf
IPR039360 Ras_GTPase
IPR023152 RasGAP_CS
IPR001936 RasGAP_dom
IPR008936 Rho_GTPase_activation_prot

The PANTHER Classification System

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PANTHERi
PTHR10194 PTHR10194, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13716 CRAL_TRIO_2, 1 hit
PF00616 RasGAP, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00323 RasGAP, 1 hit
SM00516 SEC14, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48350 SSF48350, 1 hit
SSF48371 SSF48371, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50191 CRAL_TRIO, 1 hit
PS00509 RAS_GTPASE_ACTIV_1, 1 hit
PS50018 RAS_GTPASE_ACTIV_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>Sequences (6+)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 describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 6 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: P21359-1) [UniParc]FASTAAdd to basket
Also known as: Type II

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

« Hide
        10         20         30         40         50
MAAHRPVEWV QAVVSRFDEQ LPIKTGQQNT HTKVSTEHNK ECLINISKYK
60 70 80 90 100
FSLVISGLTT ILKNVNNMRI FGEAAEKNLY LSQLIILDTL EKCLAGQPKD
110 120 130 140 150
TMRLDETMLV KQLLPEICHF LHTCREGNQH AAELRNSASG VLFSLSCNNF
160 170 180 190 200
NAVFSRISTR LQELTVCSED NVDVHDIELL QYINVDCAKL KRLLKETAFK
210 220 230 240 250
FKALKKVAQL AVINSLEKAF WNWVENYPDE FTKLYQIPQT DMAECAEKLF
260 270 280 290 300
DLVDGFAEST KRKAAVWPLQ IILLILCPEI IQDISKDVVD ENNMNKKLFL
310 320 330 340 350
DSLRKALAGH GGSRQLTESA AIACVKLCKA STYINWEDNS VIFLLVQSMV
360 370 380 390 400
VDLKNLLFNP SKPFSRGSQP ADVDLMIDCL VSCFRISPHN NQHFKICLAQ
410 420 430 440 450
NSPSTFHYVL VNSLHRIITN SALDWWPKID AVYCHSVELR NMFGETLHKA
460 470 480 490 500
VQGCGAHPAI RMAPSLTFKE KVTSLKFKEK PTDLETRSYK YLLLSMVKLI
510 520 530 540 550
HADPKLLLCN PRKQGPETQG STAELITGLV QLVPQSHMPE IAQEAMEALL
560 570 580 590 600
VLHQLDSIDL WNPDAPVETF WEISSQMLFY ICKKLTSHQM LSSTEILKWL
610 620 630 640 650
REILICRNKF LLKNKQADRS SCHFLLFYGV GCDIPSSGNT SQMSMDHEEL
660 670 680 690 700
LRTPGASLRK GKGNSSMDSA AGCSGTPPIC RQAQTKLEVA LYMFLWNPDT
710 720 730 740 750
EAVLVAMSCF RHLCEEADIR CGVDEVSVHN LLPNYNTFME FASVSNMMST
760 770 780 790 800
GRAALQKRVM ALLRRIEHPT AGNTEAWEDT HAKWEQATKL ILNYPKAKME
810 820 830 840 850
DGQAAESLHK TIVKRRMSHV SGGGSIDLSD TDSLQEWINM TGFLCALGGV
860 870 880 890 900
CLQQRSNSGL ATYSPPMGPV SERKGSMISV MSSEGNADTP VSKFMDRLLS
910 920 930 940 950
LMVCNHEKVG LQIRTNVKDL VGLELSPALY PMLFNKLKNT ISKFFDSQGQ
960 970 980 990 1000
VLLTDTNTQF VEQTIAIMKN LLDNHTEGSS EHLGQASIET MMLNLVRYVR
1010 1020 1030 1040 1050
VLGNMVHAIQ IKTKLCQLVE VMMARRDDLS FCQEMKFRNK MVEYLTDWVM
1060 1070 1080 1090 1100
GTSNQAADDD VKCLTRDLDQ ASMEAVVSLL AGLPLQPEEG DGVELMEAKS
1110 1120 1130 1140 1150
QLFLKYFTLF MNLLNDCSEV EDESAQTGGR KRGMSRRLAS LRHCTVLAMS
1160 1170 1180 1190 1200
NLLNANVDSG LMHSIGLGYH KDLQTRATFM EVLTKILQQG TEFDTLAETV
1210 1220 1230 1240 1250
LADRFERLVE LVTMMGDQGE LPIAMALANV VPCSQWDELA RVLVTLFDSR
1260 1270 1280 1290 1300
HLLYQLLWNM FSKEVELADS MQTLFRGNSL ASKIMTFCFK VYGATYLQKL
1310 1320 1330 1340 1350
LDPLLRIVIT SSDWQHVSFE VDPTRLEPSE SLEENQRNLL QMTEKFFHAI
1360 1370 1380 1390 1400
ISSSSEFPPQ LRSVCHCLYQ ATCHSLLNKA TVKEKKENKK SVVSQRFPQN
1410 1420 1430 1440 1450
SIGAVGSAMF LRFINPAIVS PYEAGILDKK PPPRIERGLK LMSKILQSIA
1460 1470 1480 1490 1500
NHVLFTKEEH MRPFNDFVKS NFDAARRFFL DIASDCPTSD AVNHSLSFIS
1510 1520 1530 1540 1550
DGNVLALHRL LWNNQEKIGQ YLSSNRDHKA VGRRPFDKMA TLLAYLGPPE
1560 1570 1580 1590 1600
HKPVADTHWS SLNLTSSKFE EFMTRHQVHE KEEFKALKTL SIFYQAGTSK
1610 1620 1630 1640 1650
AGNPIFYYVA RRFKTGQING DLLIYHVLLT LKPYYAKPYE IVVDLTHTGP
1660 1670 1680 1690 1700
SNRFKTDFLS KWFVVFPGFA YDNVSAVYIY NCNSWVREYT KYHERLLTGL
1710 1720 1730 1740 1750
KGSKRLVFID CPGKLAEHIE HEQQKLPAAT LALEEDLKVF HNALKLAHKD
1760 1770 1780 1790 1800
TKVSIKVGST AVQVTSAERT KVLGQSVFLN DIYYASEIEE ICLVDENQFT
1810 1820 1830 1840 1850
LTIANQGTPL TFMHQECEAI VQSIIHIRTR WELSQPDSIP QHTKIRPKDV
1860 1870 1880 1890 1900
PGTLLNIALL NLGSSDPSLR SAAYNLLCAL TCTFNLKIEG QLLETSGLCI
1910 1920 1930 1940 1950
PANNTLFIVS ISKTLAANEP HLTLEFLEEC ISGFSKSSIE LKHLCLEYMT
1960 1970 1980 1990 2000
PWLSNLVRFC KHNDDAKRQR VTAILDKLIT MTINEKQMYP SIQAKIWGSL
2010 2020 2030 2040 2050
GQITDLLDVV LDSFIKTSAT GGLGSIKAEV MADTAVALAS GNVKLVSSKV
2060 2070 2080 2090 2100
IGRMCKIIDK TCLSPTPTLE QHLMWDDIAI LARYMLMLSF NNSLDVAAHL
2110 2120 2130 2140 2150
PYLFHVVTFL VATGPLSLRA STHGLVINII HSLCTCSQLH FSEETKQVLR
2160 2170 2180 2190 2200
LSLTEFSLPK FYLLFGISKV KSAAVIAFRS SYRDRSFSPG SYERETFALT
2210 2220 2230 2240 2250
SLETVTEALL EIMEACMRDI PTCKWLDQWT ELAQRFAFQY NPSLQPRALV
2260 2270 2280 2290 2300
VFGCISKRVS HGQIKQIIRI LSKALESCLK GPDTYNSQVL IEATVIALTK
2310 2320 2330 2340 2350
LQPLLNKDSP LHKALFWVAV AVLQLDEVNL YSAGTALLEQ NLHTLDSLRI
2360 2370 2380 2390 2400
FNDKSPEEVF MAIRNPLEWH CKQMDHFVGL NFNSNFNFAL VGHLLKGYRH
2410 2420 2430 2440 2450
PSPAIVARTV RILHTLLTLV NKHRNCDKFE VNTQSVAYLA ALLTVSEEVR
2460 2470 2480 2490 2500
SRCSLKHRKS LLLTDISMEN VPMDTYPIHH GDPSYRTLKE TQPWSSPKGS
2510 2520 2530 2540 2550
EGYLAATYPT VGQTSPRARK SMSLDMGQPS QANTKKLLGT RKSFDHLISD
2560 2570 2580 2590 2600
TKAPKRQEME SGITTPPKMR RVAETDYEME TQRISSSQQH PHLRKVSVSE
2610 2620 2630 2640 2650
SNVLLDEEVL TDPKIQALLL TVLATLVKYT TDEFDQRILY EYLAEASVVF
2660 2670 2680 2690 2700
PKVFPVVHNL LDSKINTLLS LCQDPNLLNP IHGIVQSVVY HEESPPQYQT
2710 2720 2730 2740 2750
SYLQSFGFNG LWRFAGPFSK QTQIPDYAEL IVKFLDALID TYLPGIDEET
2760 2770 2780 2790 2800
SEESLLTPTS PYPPALQSQL SITANLNLSN SMTSLATSQH SPGIDKENVE
2810 2820 2830
LSPTTGHCNS GRTRHGSASQ VQKQRSAGSF KRNSIKKIV
Length:2,839
Mass (Da):319,372
Last modified:June 1, 1994 - v2
<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:iC079475139DBD51E
GO
Isoform 1 (identifier: P21359-2) [UniParc]FASTAAdd to basket
Also known as: Type I

The sequence of this isoform differs from the canonical sequence as follows:
     1371-1391: Missing.

Show »
Length:2,818
Mass (Da):317,033
Checksum:i7E5B89158317C56C
GO
Isoform 3 (identifier: P21359-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     548-551: ALLV → VRGK
     552-2839: Missing.

Show »
Length:551
Mass (Da):62,300
Checksum:iD783EC85BCE926D7
GO
Isoform 4 (identifier: P21359-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1591-1598: SIFYQAGT → TPPPEPET
     1599-2839: Missing.

Show »
Length:1,598
Mass (Da):180,213
Checksum:iF76BC6C54FC08C8C
GO
Isoform 5 (identifier: P21359-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     574-593: SSQMLFYICKKLTSHQMLSS → RYMYFYFLNSTFKFYFVFLS
     594-2839: Missing.

Show »
Length:593
Mass (Da):67,543
Checksum:i9ECE9DBD67A10A16
GO
Isoform 6 (identifier: P21359-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1371-1391: Missing.
     2792-2792: P → PASLPCSNSAVFMQLFPHQ

Show »
Length:2,836
Mass (Da):318,992
Checksum:i3D265EB28B8F8282
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 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y465H0Y465_HUMAN
Neurofibromin
NF1
2,502Annotation 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>
J3KSB5J3KSB5_HUMAN
Neurofibromin
NF1
1,656Annotation 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>
J3QQN8J3QQN8_HUMAN
Neurofibromin
NF1
227Annotation 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>
J3KRT8J3KRT8_HUMAN
Neurofibromin
NF1
206Annotation 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>
A0A1W2PPA7A0A1W2PPA7_HUMAN
Neurofibromin
NF1
233Annotation 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>
J3QSG6J3QSG6_HUMAN
Neurofibromin
NF1
640Annotation 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>
J3KSX8J3KSX8_HUMAN
Neurofibromin
NF1
206Annotation 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>
K7EID4K7EID4_HUMAN
Neurofibromin
NF1
115Annotation 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>
J3QLS2J3QLS2_HUMAN
Neurofibromin
NF1
124Annotation 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>
K7ENT2K7ENT2_HUMAN
Neurofibromin
NF1
81Annotation 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>
There are more potential isoformsShow all

<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 AAA59923 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti496M → I in AAA74897 (PubMed:2116237).Curated1
Sequence conflicti496M → I in AAB59558 (PubMed:2116237).Curated1
Sequence conflicti1094 – 1095EL → ST in AAA59923 (PubMed:2121370).Curated2
Sequence conflicti1576H → HH in AAA74897 (PubMed:2116237).Curated1
Sequence conflicti1576H → HH in AAB59558 (PubMed:2116237).Curated1

<p>This subsection of the ‘Sequence’ section provides information relevant to all types of RNA editing events (conversion, insertion, deletion of nucleotides) that lead to one or more amino acid changes compared to the translation of the non-edited RNA version.<p><a href='/help/rna_editing' target='_top'>More...</a></p>RNA editingi

Edited at position 1306.2 Publications
The stop codon (UGA) at position 1306 is created by RNA editing. Various levels of RNA editing occurs in peripheral nerve-sheath tumor samples (PNSTs) from patients with NF1. Preferentially observed in transcripts containing exon 23A.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03245931H → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474725EnsemblClinVar.1
Natural variantiVAR_01755074A → D in mismatch repair deficient cancer cells. 1 PublicationCorresponds to variant dbSNP:rs199474726EnsemblClinVar.1
Natural variantiVAR_02225480Y → C1 PublicationCorresponds to variant dbSNP:rs4795581EnsemblClinVar.1
Natural variantiVAR_04913580Y → S. Corresponds to variant dbSNP:rs4795581EnsemblClinVar.1
Natural variantiVAR_02173082S → F in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474729EnsemblClinVar.1
Natural variantiVAR_07166893C → W in NF1. 1 Publication1
Natural variantiVAR_01755193C → Y in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474728EnsemblClinVar.1
Natural variantiVAR_010989117I → S in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474731EnsemblClinVar.1
Natural variantiVAR_032460145L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474734EnsemblClinVar.1
Natural variantiVAR_021731157I → N in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474744EnsemblClinVar.1
Natural variantiVAR_065888160R → T in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474752EnsemblClinVar.1
Natural variantiVAR_017552176D → E Found in mismatch repair deficient cancer cells; also found in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. 5 PublicationsCorresponds to variant dbSNP:rs112306990EnsemblClinVar.1
Natural variantiVAR_032461186D → V in NF1; reduced splicing enhancement. 1 Publication1
Natural variantiVAR_032462194L → R in NFNS. 1 PublicationCorresponds to variant dbSNP:rs199474753EnsemblClinVar.1
Natural variantiVAR_021732216L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474756EnsemblClinVar.1
Natural variantiVAR_032463324C → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474735EnsemblClinVar.1
Natural variantiVAR_067201330A → T in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs199474767EnsemblClinVar.1
Natural variantiVAR_032464337E → V in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474736EnsemblClinVar.1
Natural variantiVAR_010990338D → G in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474773EnsemblClinVar.1
Natural variantiVAR_021733357L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs137854563EnsemblClinVar.1
Natural variantiVAR_067202393H → D in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs199474768EnsemblClinVar.1
Natural variantiVAR_067203393H → L in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs199474769EnsemblClinVar.1
Natural variantiVAR_032465489Y → C in NF1. 1 PublicationCorresponds to variant dbSNP:rs137854557EnsemblClinVar.1
Natural variantiVAR_021734491Y → C in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474757EnsemblClinVar.1
Natural variantiVAR_010991508L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs137854558EnsemblClinVar.1
Natural variantiVAR_067204519Q → P in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs199474770EnsemblClinVar.1
Natural variantiVAR_032466532L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474737EnsemblClinVar.1
Natural variantiVAR_021735549L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474758EnsemblClinVar.1
Natural variantiVAR_032467574S → R in NF1. 1 Publication1
Natural variantiVAR_021736578L → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474774EnsemblClinVar.1
Natural variantiVAR_021737581I → T in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474759EnsemblClinVar.1
Natural variantiVAR_021738583K → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474760EnsemblClinVar.1
Natural variantiVAR_017553604L → V in NF1. 1 PublicationCorresponds to variant dbSNP:rs142712751EnsemblClinVar.1
Natural variantiVAR_002653629G → R in NF1; affects splicing by creating a novel splice acceptor site. 3 PublicationsCorresponds to variant dbSNP:rs199474738EnsemblClinVar.1
Natural variantiVAR_021739665S → F in NF1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs145891889EnsemblClinVar.1
Natural variantiVAR_022255678P → L1 PublicationCorresponds to variant dbSNP:rs17881753EnsemblClinVar.1
Natural variantiVAR_021740695L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474761EnsemblClinVar.1
Natural variantiVAR_017554712H → R in mismatch repair deficient cancer cells. 1 PublicationCorresponds to variant dbSNP:rs199474727EnsemblClinVar.1
Natural variantiVAR_021741763L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474762EnsemblClinVar.1
Natural variantiVAR_021742765R → H in NF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199474777EnsemblClinVar.1
Natural variantiVAR_067205776A → T in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs199474771EnsemblClinVar.1
Natural variantiVAR_021743777W → S in NF1. 2 PublicationsCorresponds to variant dbSNP:rs199474745EnsemblClinVar.1
Natural variantiVAR_021744780T → K in NF1. 4 PublicationsCorresponds to variant dbSNP:rs199474746EnsemblClinVar.1
Natural variantiVAR_021745781H → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474763EnsemblClinVar.1
Natural variantiVAR_021746784W → C in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474778EnsemblClinVar.1
Natural variantiVAR_021747784W → R in NF1. 2 PublicationsCorresponds to variant dbSNP:rs199474730EnsemblClinVar.1
Natural variantiVAR_010992844L → F in NF1. 2 PublicationsCorresponds to variant dbSNP:rs199474785EnsemblClinVar.1
Natural variantiVAR_032468844L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs137854566EnsemblClinVar.1
Natural variantiVAR_002654844L → R in NF1; sporadic. 3 PublicationsCorresponds to variant dbSNP:rs137854566EnsemblClinVar.1
Natural variantiVAR_021748847L → P in NF1. 3 PublicationsCorresponds to variant dbSNP:rs199474747EnsemblClinVar.1
Natural variantiVAR_021749848G → E in NF1. 2 PublicationsCorresponds to variant dbSNP:rs199474748EnsemblClinVar.1
Natural variantiVAR_032469873R → C1 PublicationCorresponds to variant dbSNP:rs199474739EnsemblClinVar.1
Natural variantiVAR_002655898L → P in NF1; sporadic. 2 PublicationsCorresponds to variant dbSNP:rs199474786EnsemblClinVar.1
Natural variantiVAR_021750920L → P in NF1; patient with cafe-au-lait spots; may be a distinct form of NF1. 1 PublicationCorresponds to variant dbSNP:rs199474775EnsemblClinVar.1
Natural variantiVAR_021751968M → R in NF1. 2 PublicationsCorresponds to variant dbSNP:rs199474749EnsemblClinVar.1
Natural variantiVAR_002656991Missing in NF1; most patients carrying the mutation do not manifest cutaneous neurofibromas. 3 Publications1
Natural variantiVAR_0026571035M → R in NF1. 1 PublicationCorresponds to variant dbSNP:rs137854553EnsemblClinVar.1
Natural variantiVAR_0716691048W → R in NF1. 1 Publication1
Natural variantiVAR_0324701073M → V in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474740EnsemblClinVar.1
Natural variantiVAR_0217521147L → P in NF1. 1 PublicationCorresponds to variant dbSNP:rs199474779