Protein detail

NF1

Neurofibromin (Neurofibromatosis-related protein NF-1) [Cleaved into: Neurofibromin truncated]

Entry name NF1	UniProt ID P21359	EVMP confidence score 0.40
Supporting publications (n) 2	Transmembrane count	Protein classification Cancer-related genesDisease related genesHuman disease related genesPlasma proteinsPredicted intracellular proteinsPredicted membrane proteinsRAS pathway related proteins

Basic Information

Protein Names

Neurofibromin (Neurofibromatosis-related protein NF-1) [Cleaved into: Neurofibromin truncated]

Protein Class (7)

Cancer-related genesDisease related genesHuman disease related genesPlasma proteinsPredicted intracellular proteinsPredicted membrane proteinsRAS pathway related proteins

Protein Function (8)

Cancer-related genes:Mutational cancer driver genes
Predicted intracellular proteins
Cancer-related genes:Mutated cancer genes
Human disease related genes:Cancers:Cancers of endocrine organs
RAS pathway related proteins
Human disease related genes:Cancers:Cancers of haematopoietic and lymphoid tissues
Disease related genes
Human disease related genes:Congenital malformations:Other congenital malformations

Ensembl

ENSG00000196712

Entrez Gene Symbol

NF1

Gene Description

Neurofibromin 1

Chromosome

Position

31094927-31382116

Supporting publications (n)

EVMP confidence score

0.40

Fluorescence & Localization

Function & Pathway

Protein Function (8)

Cancer-related genes:Mutational cancer driver genes
Predicted intracellular proteins
Cancer-related genes:Mutated cancer genes
Human disease related genes:Cancers:Cancers of endocrine organs
RAS pathway related proteins
Human disease related genes:Cancers:Cancers of haematopoietic and lymphoid tissues
Disease related genes
Human disease related genes:Congenital malformations:Other congenital malformations

Cellular Component (11)

Page 1 of 2

Molecular Function (4)

Biological Process (3)

KEGG (3)

Reactome (6)

Mediation Categories (5)

Adhesion and uptake mediationClinical-translation mediationFusion and delivery mediationImmune mediationReceptor-signaling mediation

Relations & Evidence340

Enzyme-Mediated Modification (6)

6 records.

Substrate Gene Symbol	Enzyme Gene Symbol	Enzyme UniProt ID	Residue Type	Residue Offset	Modification	Database	References
NF1	PRKCA	P17252	S	2,808	phosphorylation	PhosphoSite
NF1	PRKCA	P17252	S	2,829	phosphorylation	KEA	KEA:17570479
NF1	MAPK8	P45983	S	2,515	phosphorylation	KEA	KEA:17570479
NF1	CDK1	P06493	S	2,515	phosphorylation	KEA	KEA:17570479
NF1	CDK1	P06493	S	864	phosphorylation	KEA	KEA:17570479
NF1	MAPK8	P45983	S	864	phosphorylation	KEA	KEA:17570479

Ligand-Receptor Signaling (8)

8 records.

Category	Parent	Database
intracellular	intracellular	ComPPI
intracellular	intracellular	GO_Intercell
intracellular	intracellular	UniProt_location
intracellular	intracellular	OmniPath
transmembrane	transmembrane	Ramilowski_location
transmembrane	transmembrane	OmniPath
plasma_membrane	plasma_membrane	UniProt_location
plasma_membrane	plasma_membrane	OmniPath

Regulatory Interaction Network (5)

5 records.

Source Protein Symbol	Source UniProt ID	Target Protein Symbol	Target UniProt ID	Is Directed	Is Stimulation	Is Inhibition	Database	References
NF1	P21359	RASH	P01112	Yes	Yes	Yes	WangSIGNORHPRDHINTIntActInnateDBSPIKE_LCSPIKE	InnateDB:8628317 HPRD:8628317 SIGNOR:24431436 HINT:8628317 HINT:26635368 HINT:30655611 IntAct:26635368 SIGNOR:19777070 SPIKE_LC:19718661 SPIKE:19718661
SPRE1	Q7Z699	NF1	P21359	Yes	Yes		HINTSIGNOR	HINT:26635368 HINT:32697994 HINT:27313208 SIGNOR:32697994
NF1	P21359	RASK	P01116	Yes		Yes	WangHINTSIGNOR	SIGNOR:32697994 HINT:32697994 HINT:31611389
RBX2	Q9UBF6	NF1	P21359	Yes		Yes	SIGNOR	SIGNOR:23136067
KPCA	P17252	NF1	P21359	Yes			PhosphoSiteKEANetworKIN_KEAiPTMnet	KEA:17570479 PhosphoSite:26490262

Protein Complex Composition (320)

320 records.

Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs
TRIM39 ZNF19 ZNF621	P17023 Q6ZSS3 Q9HCM9	0:0:0	hu.MAP
ZNF174 ZSCAN20	P17040 Q15697	0:0	hu.MAP2
HECTD2 LIG1 PARP11 RNF166	P18858 Q5U5R9 Q96A37 Q9NR21	0:0:0:0	hu.MAP2
ERCC3 GTF2H1 GTF2H2 GTF2H2C 2 GTF2H3 GTF2H4 GTF2H5 PTS RNF135	P19447 P32780 Q03393 Q13888 Q13889 Q6P1K8 Q6ZYL4 Q8IUD6 Q92759	0:0:0:0:0:0:0:0:0	hu.MAP2
CFDP1 CSNK2A1 CSNK2A2 CSNK2B GPATCH2 GPATCH2L HAGHL NKAPD1 PHRF1 RNF111 VSX1	P19784 P67870 P68400 Q6PII5 Q6ZNA4 Q6ZUT1 Q9NW75 Q9NWQ4 Q9NZR4 Q9P1Y6 Q9UEE9	0:0:0:0:0:0:0:0:0:0:0	hu.MAP
CSNK2A2 FBRSL1 GPATCH2 GPATCH2L HAGHL PCGF3 PHRF1 RNF111	P19784 Q3KNV8 Q6PII5 Q6ZNA4 Q9HCM7 Q9NW75 Q9NWQ4 Q9P1Y6	0:0:0:0:0:0:0:0	hu.MAP
ARK2N CSNK2A2 GPATCH2 GPATCH2L HAGHL HIRIP3 NKAPD1 PHRF1 RNF111 VSX1	P19784 Q6PII5 Q6ZNA4 Q6ZUT1 Q96B23 Q9BW71 Q9NW75 Q9NWQ4 Q9NZR4 Q9P1Y6	0:0:0:0:0:0:0:0:0:0	hu.MAP
CSNK2A2 GPATCH2 PHRF1 RNF111	P19784 Q6ZNA4 Q9NW75 Q9P1Y6	0:0:0:0	hu.MAP
HNF1A	P20823	2	PDB	PDB:8piaPDB:8pi9PDB:1ic8PDB:8pi7PDB:8pi8PDB:2gyp
NF1	P21359	2	PDB	PDB:7pgtPDB:7pgsPDB:3pg7PDB:7pguPDB:3p7zPDB:7mocPDB:7mp5PDB:2e2xPDB:7r03PDB:7pgpPDB:7pgqPDB:7r04PDB:8e20PDB:7pgrPDB:8edmPDB:8edoPDB:2d4qPDB:7mp6

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Isolation & Detection Technology (1)

1 record.

EV Isolation Method	Detection Method	Number of References	References
Protein Organic Solvent Precipitation	Mass spectrometry	1	32384937

Sequence, Structure & Domains

Sequences

Length

2,839

Mass

319,372

Sequence

MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFLDSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNSVIFLLVQSMVVDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQNSPSTFHYVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMVKLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEALLVLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWLREILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRKGKGNSSMDSAAGCSGTPPICRQAQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIRCGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIEHPTAGNTEAWEDTHAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINMTGFLCALGGVCLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLSLMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQVLLTDTNTQFVEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVEVMMARRDDLSFCQEMKFRNKMVEYLTDWVMGTSNQAADDDVKCLTRDLDQASMEAVVSLLAGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESAQTGGRKRGMSRRLASLRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETVLADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNMFSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDWQHVSFEVDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQATCHSLLNKATVKEKKENKKSVVSQRFPQNSIGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLKLMSKILQSIANHVLFTKEEHMRPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFISDGNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHWSSLNLTSSKFEEFMTRHQVHEKEEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTGQINGDLLIYHVLLTLKPYYAKPYEIVVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIYNCNSWVREYTKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLAHKDTKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAIVQSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISKTLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLGQITDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALASGNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHLPYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISKVKSAAVIAFRSSYRDRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIALTKLQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVRSRCSLKHRKSLLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTRKSFDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRTRHGSASQVQKQRSAGSFKRNSIKKIV

Alternative Products

Event=Alternative splicing; Named isoforms=6; Comment=Experimental confirmation may be lacking for some isoforms.; Name=II; IsoId=P21359-1; Sequence=Displayed; Name=I; IsoId=P21359-2; Sequence=VSP_001628; Name=3; IsoId=P21359-3; Sequence=VSP_001629, VSP_001630; Name=4; IsoId=P21359-4; Sequence=VSP_001631, VSP_001632; Name=5; IsoId=P21359-5; Sequence=VSP_043467, VSP_043468; Name=6; IsoId=P21359-6; Sequence=VSP_001628, VSP_053587

Alternative Sequence

548..551; ALLV -> VRGK (in isoform 3); 552..2839; Missing (in isoform 3); 574..593; SSQMLFYICKKLTSHQMLSS -> RYMYFYFLNSTFKFYFVFLS (in isoform 5); 594..2839; Missing (in isoform 5); 1371..1391; Missing (in isoform I and isoform 6); 1591..1598; SIFYQAGT -> TPPPEPET (in isoform 4); 1599..2839; Missing (in isoform 4); 2792; P -> PASLPCSNSAVFMQLFPHQ (in isoform 6)

3D Structural Models

Turn

31..33; 47..49; 531..534; 566..568; 693..696; 728..730; 900..903; 907..909; 947..949; 1026..1028; 1049..1052; 1201..1204; 1217..1219; 1310..1312; 1421..1425; 1582..1586; 1615..1617; 1632..1636; 1662..1664; 1698..1702; 2109..2112; 2180..2184; 2242..2244; 2285..2287; 2382..2384; 2393..2395; 2427..2429; 2443..2445; 2607..2609; 2651..2653; 2709..2715

Helix

5..18; 34..46; 51..66; 73..96; 106..111; 114..121; 130..146; 150..166; 174..181; 187..201; 206..226; 228..236; 240..256; 260..276; 278..285; 294..307; 314..331; 341..357; 373..386; 394..398; 404..419; 429..435; 436..454; 483..502; 505..508; 522..530; 539..551; 555..558; 559..561; 569..587; 593..617; 678..691; 700..708; 711..720; 724..727; 735..745; 752..762; 763..765; 771..793; 832..846; 849..851; 890..899; 910..923; 927..929; 930..942; 955..973; 979..983; 989..1000; 1006..1021; 1034..1046; 1053..1056; 1060..1063; 1064..1080; 1095..1116; 1135..1155; 1157..1160; 1162..1167; 1173..1190; 1197..1200; 1208..1216; 1220..1228; 1233..1235; 1236..1249; 1253..1267; 1271..1273; 1280..1309; 1315..1317; 1323..1325; 1332..1351; 1354..1356; 1359..1370; 1392..1394; 1398..1400; 1401..1411; 1414..1419; 1433..1451; 1459..1464; 1465..1483; 1510..1514; 1517..1520; 1531..1533; 1535..1544; 1569..1578; 1587..1590; 1610..1612; 1620..1631; 1650..1652; 1656..1661; 1668..1672; 1684..1692; 1694..1697; 1714..1717; 1721..1723; 1728..1732; 1785..1787; 1817..1833; 1847..1849; 1851..1861; 1867..1884; 1906..1918; 1920..1922; 1923..1936; 1939..1949; 1950..1952; 1957..1960; 1968..1984; 1989..2000; 2004..2006; 2007..2021; 2026..2041; 2043..2057; 2058..2060; 2061..2063; 2069..2071; 2075..2089; 2090..2092; 2096..2108; 2116..2134; 2143..2155; 2159..2165; 2173..2177; 2199..2219; 2225..2237; 2245..2250; 2252..2255; 2261..2280; 2289..2301; 2302..2304; 2311..2314; 2317..2323; 2328..2347; 2356..2363; 2365..2367; 2368..2378; 2386..2392; 2396..2399; 2403..2424; 2434..2436; 2437..2441; 2447..2452; 2613..2629; 2633..2649; 2654..2657; 2658..2671; 2675..2690; 2700..2702; 2704..2706; 2728..2742

Beta Strand

336..338; 360..362; 367..371; 387..389; 399..402; 424..426; 516..518; 1091..1093; 1277..1279; 1328..1330; 1426..1429; 1490..1492; 1592..1598; 1604..1609; 1639..1644; 1674..1681; 1706..1711; 1738..1749; 1751..1757; 1759..1767; 1770..1772; 1775..1777; 1780..1784; 1788..1795; 1798..1803; 1810..1813; 1961..1963; 1965..1967; 2137..2139; 2351..2354

3D Structure

Electron microscopy (16); X-ray crystallography (10)

Domain & Motif Annotations

Compositional Bias

2801..2827; Polar residues

Motif

2555..2571; Bipartite nuclear localization signal

Domain (CC)

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.

Domain (FT)

1251..1482; Ras-GAP; 1580..1738; CRAL-TRIO

Region

1580..1837; Lipid binding; 2787..2839; Disordered

Clinical Relevance

Disease Involvement (3)

Cancer-related genesDisease variantTumor suppressor

Antibody (4)

HPA045502 HPA075627 CAB080363 CAB080365

Interaction Protein (3)

ENSG00000166068ENSG00000166913ENSG00000174775

Interaction Count

Interaction Dataset (2)

intact_biogridbiogrid_opencell

Supporting Publications2

PMID	Title	Related sentences
37922300	Proteomic profiling of urinary extracellular vesicles differentiates breast cancer patients from healthy women.	No related sentences available
38731868	The Deep Proteomics Approach Identified Extracellular Vesicular Proteins Correlated to Extracellular Matrix in Type One and Two Endometrial Cancer.	No related sentences available