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Protein

Neurofibromin

Gene

Nf1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGTPase activation
LigandLipid-binding

Enzyme and pathway databases

ReactomeiR-MMU-5658442 Regulation of RAS by GAPs

Names & Taxonomyi

Protein namesi
Recommended name:
Neurofibromin
Alternative name(s):
Neurofibromatosis-related protein NF-1
Gene namesi
Name:Nf1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 11

Organism-specific databases

MGIiMGI:97306 Nf1

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

Pathology & Biotechi

Chemistry databases

ChEMBLiCHEMBL2176807

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00000566662 – 2841NeurofibrominAdd BLAST2840

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineBy similarity1
Modified residuei866PhosphoserineCombined sources1
Modified residuei878PhosphoserineCombined sources1
Modified residuei2190PhosphoserineBy similarity1
Modified residuei2469PhosphoserineCombined sources1
Modified residuei2516PhosphothreonineCombined sources1
Modified residuei2517PhosphoserineCombined sources1
Modified residuei2523PhosphoserineBy similarity1
Modified residuei2525PhosphoserineCombined sources1
Modified residuei2545PhosphoserineBy similarity1
Modified residuei2567PhosphothreonineBy similarity1
Modified residuei2599PhosphoserineCombined sources1
Modified residuei2804PhosphoserineBy similarity1
Modified residuei2819PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ04690
PaxDbiQ04690
PeptideAtlasiQ04690
PRIDEiQ04690

PTM databases

iPTMnetiQ04690
PhosphoSitePlusiQ04690

Expressioni

Tissue specificityi

Isoform 1 is expressed predominantly in brain, spinal cord and testis. Isoform 2 is expressed predominantly in adrenal gland, kidney, ovary and lung. Isoform 3 is expressed predominantly in adrenal gland and isoform 4 is expressed mainly in the testis.

Gene expression databases

BgeeiENSMUSG00000020716 Expressed in 196 organ(s), highest expression level in lumbar subsegment of spinal cord
CleanExiMM_NF1
ExpressionAtlasiQ04690 baseline and differential
GenevisibleiQ04690 MM

Interactioni

Subunit structurei

Interacts with HTR6 (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi201736, 15 interactors
IntActiQ04690, 12 interactors
MINTiQ04690
STRINGi10090.ENSMUSP00000071289

Structurei

3D structure databases

ProteinModelPortaliQ04690
SMRiQ04690
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1237 – 1453Ras-GAPPROSITE-ProRule annotationAdd BLAST217
Domaini1582 – 1740CRAL-TRIOPROSITE-ProRule annotationAdd BLAST159

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1582 – 1839Lipid bindingBy similarityAdd BLAST258

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi2557 – 2573Bipartite nuclear localization signalBy similarityAdd BLAST17

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1354 – 1357Poly-Ser4

Domaini

Binds phospholipids via a region that includes the 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 (By similarity).By similarity

Phylogenomic databases

eggNOGiKOG1826 Eukaryota
ENOG410XRPJ LUCA
GeneTreeiENSGT00550000074797
HOGENOMiHOG000047020
HOVERGENiHBG006486
InParanoidiQ04690
KOiK08052
OMAiVITRMCR
OrthoDBiEOG091G03FI
PhylomeDBiQ04690
TreeFamiTF300302

Family and domain databases

CDDicd00170 SEC14, 1 hit
Gene3Di2.30.29.30, 1 hit
3.40.525.10, 1 hit
InterProiView 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
PANTHERiPTHR10194 PTHR10194, 1 hit
PfamiView protein in Pfam
PF13716 CRAL_TRIO_2, 1 hit
PF00616 RasGAP, 1 hit
SMARTiView protein in SMART
SM00323 RasGAP, 1 hit
SM00516 SEC14, 1 hit
SUPFAMiSSF48350 SSF48350, 1 hit
SSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50191 CRAL_TRIO, 1 hit
PS00509 RAS_GTPASE_ACTIV_1, 1 hit
PS50018 RAS_GTPASE_ACTIV_2, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

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

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: Q04690-1) [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 ESNINKKLFL
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 CLLLSMVKLI
510 520 530 540 550
HADPKLLLCN PRKQGPETQS STAELITGLV QLVPQSHMPE VAQEAMEALL
560 570 580 590 600
VLHQLDSIDL WNPDAPVETF WEISSQMLFY ICKKLTSHQM LSSTEILKWL
610 620 630 640 650
REILICRNKF LLKNKQADRS SCHSLYLYGV GCEMSATGNT TQMSVDHDEF
660 670 680 690 700
LRACTPGASL RKGRGNSSMD STAGCSGTPP ICRQAQTKLE VALYMFLWNP
710 720 730 740 750
DTEAVLVAMS CFRHLCEEAD IRCGVDEVSV HNFLPNYNTF MEFASVSNMM
760 770 780 790 800
STGRAALQKR VMALLRRIEH PTAGNIEAWE DTHAKWEQAT KLILNYPKAK
810 820 830 840 850
MEDGQAAESL HKTIVKRRMS HVSGGGSIDL SDTDSLQEWI NMTGFLCALG
860 870 880 890 900
GVCLQQRSSS GLATYSPPMG AVSERKGSMI SVMSSEGNID SPVSRFMDRL
910 920 930 940 950
LSLMVCNHEK VGLQIRTNVK DLVGLELSPA LYPMLFNKLK NTISKFFDSQ
960 970 980 990 1000
GQVLLSDSNT QFVEQTIAIM KNLLDNHTEG SSEHLGQASI ETMMLNLVRY
1010 1020 1030 1040 1050
VRVLGNMVHA IQIKTKLCQL VEVMMARRDD LSFCQEMKFR NKMVEYLTDW
1060 1070 1080 1090 1100
VMGTSNQAAD DDIKCLTRDL DQASMEAVVS LLAGLPLQPE EGDGVELMEA
1110 1120 1130 1140 1150
KSQLFLKYFT LFMNLLNDCS EVEDENAQTG GRKRGMSRRL ASLRHCTVLA
1160 1170 1180 1190 1200
MSNLLNANVD SGLMHSIGLG YHKDLQTRAT FMEVLTKILQ QGTEFDTLAE
1210 1220 1230 1240 1250
TVLADRFERL VELVTMMGDQ GELPIAMALA NVVPCSQWDE LARVLVTLFD
1260 1270 1280 1290 1300
SRHLLYQLLW NMFSKEVELA DSMQTLFRGN SLASKIMTFC FKVYGATYLQ
1310 1320 1330 1340 1350
KLLDPLLRVI ITSSDWQHVS FEVDPTRLEP SESLEENQRN LLQMTEKFFH
1360 1370 1380 1390 1400
AIISSSSEFP SQLRSVCHCL YQATCHSLLN KATVKERKEN KKSVVSQRFP
1410 1420 1430 1440 1450
QNSIGAVGSA MFLRFINPAI VSPYEAGILD KKPPPRIERG LKLMSKVLQS
1460 1470 1480 1490 1500
IANHVLFTKE EHMRPFNDFV KSNFDLARRF FLDIASDCPT SDAVNHSLSF
1510 1520 1530 1540 1550
ISDGNVLALH RLLWNNQEKI GQYLSSNRDH KAVGRRPFDK MATLLAYLGP
1560 1570 1580 1590 1600
PEHKPVADTH WSSLNLTSSK FEEFMTRHQV HEKEEFKALK TLSIFYQAGT
1610 1620 1630 1640 1650
SKAGNPIFYY VARRFKTGQI NGDLLIYHVL LTLKPYYAKP YEIVVDLTHT
1660 1670 1680 1690 1700
GPSNRFKTDF LSKWFVVFPG FAYDNVSAVY IYNCNSWVRE YTKYHERLLT
1710 1720 1730 1740 1750
GLKGSKRLIF IDCPGKLAEH IEHEQQKLPA ATLALEEDLK VFHNALKLAH
1760 1770 1780 1790 1800
KDTKVSIKVG STAVQVTSAE RTKVLGQSVF LNDIYYASEI EEICLVDENQ
1810 1820 1830 1840 1850
FTLTIANQGT PLTFMHQECE AIVQSIIHIR TRWELSQPDS IPQHTKIRPK
1860 1870 1880 1890 1900
DVPGTLLNIA LLNLGSSDPS LRSAAYNLLC ALTCTFNLKI EGQLLETSGL
1910 1920 1930 1940 1950
CIPANNTLFI VSISKTLAAN EPHLTLEFLE ECISGFSKSS IELKHLCLEY
1960 1970 1980 1990 2000
MTPWLSNLVR FCKHNDDAKR QRVTAILDKL ITMTINEKQM YPSIQAKIWG
2010 2020 2030 2040 2050
SLGQITDLLD VVLDSFIKTS ATGGLGSIKA EVMADTAVAL ASGNVKLVSS
2060 2070 2080 2090 2100
KVIGRMCKII DKTCLSPTPT LEQHLMWDDI AILARYMLML SFNNSLDVAA
2110 2120 2130 2140 2150
HLPYLFHVVT FLVATGPLSL RASTHGLLIN IIHSLCTCSQ LHFSEETKQV
2160 2170 2180 2190 2200
LRLSLTEFSL PKFYLLFGIS KVKSAAVIAF RSSYRDRSFS PGSYERETFA
2210 2220 2230 2240 2250
LTSLETVTEA LLEIMEACMR DIPTCKWLDQ WTELAQRFAF QYNPSLQPRA
2260 2270 2280 2290 2300
LVVFGCISKR VSHGQIKQII RILSKALESC LKGPDTYNSQ VLIESTVIAL
2310 2320 2330 2340 2350
TKLQPLLNKD SPLHKALFWV AVAVLQLDEV NLYSAGTALL EQNLHTLDSL
2360 2370 2380 2390 2400
RIFNDKSPEE VFMAIRNPLE WHCKQMDHFV GLNFNSNFNF ALVGHLLKGY
2410 2420 2430 2440 2450
RHPSPAIVAR TVRILHTLLT LVNKHRNCDK FEVNTQSVAY LAALLTVSEE
2460 2470 2480 2490 2500
VRSRCSLKHR KSLLLTDISM ENVPMDTYPI HHGDPSYRTL KETQPWSSPK
2510 2520 2530 2540 2550
GSEGYLAATY PAVGQTSPRA RKSMSLDMGQ PSQANTKKLL GTRKSFDHLI
2560 2570 2580 2590 2600
SDTKAPKRQE MESGITTPPK MRRVAETDYE METQRIPSSQ QHPHLRKVSV
2610 2620 2630 2640 2650
SESNVLLDEE VLTDPKIQAL LLTVLATLVK YTTDEFDQRI LYEYLAEASV
2660 2670 2680 2690 2700
VFPKVFPVVH NLLDSKINTL LSLCQDPNLL NPIHGIVQSV VYHEESPPQY
2710 2720 2730 2740 2750
QTSYLQSFGF NGLWRFAGPF SKQTQIPDYA ELIVKFLDAL IDTYLPGIDE
2760 2770 2780 2790 2800
ETSEESLLTP TSPYPPALQS QLSITANLNL SNSMTSLATS QHSPGLDKEN
2810 2820 2830 2840
VELSPTAGHC NSGRTRHGSA SQVQKQRSAG SFKRNSIKKI V
Length:2,841
Mass (Da):319,596
Last modified:June 1, 1994 - v1
Checksum:i06650BDCDC531002
GO
Isoform 1 (identifier: Q04690-2) [UniParc]FASTAAdd to basket
Also known as: Type I

The sequence of this isoform differs from the canonical sequence as follows:
     1373-1393: Missing.

Show »
Length:2,820
Mass (Da):317,228
Checksum:i5CA21CD5946C597B
GO
Isoform 3 (identifier: Q04690-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1394-1406: VVSQRFPQNSIGA → VPKSSCFSCLNNRWLASASLRTASVP
     1407-2841: Missing.

Show »
Length:1,419
Mass (Da):159,714
Checksum:iEBA01C4F82A4A46C
GO
Isoform 4 (identifier: Q04690-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1373-1393: Missing.
     1394-1406: VVSQRFPQNSIGA → VPKSSCFSCLNNRWLASASLRTASVP
     1407-2841: Missing.

Show »
Length:1,398
Mass (Da):157,347
Checksum:iAF69F30DFD7C4F9A
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2P863A0A1W2P863_MOUSE
Neurofibromin
Nf1
1,382Annotation score:
Q5SYH9Q5SYH9_MOUSE
Neurofibromin
Nf1
826Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0016331373 – 1393Missing in isoform 1 and isoform 4. CuratedAdd BLAST21
Alternative sequenceiVSP_0016341394 – 1406VVSQR…NSIGA → VPKSSCFSCLNNRWLASASL RTASVP in isoform 3 and isoform 4. CuratedAdd BLAST13
Alternative sequenceiVSP_0016351407 – 2841Missing in isoform 3 and isoform 4. CuratedAdd BLAST1435

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L10369, L10367, L10368 Genomic DNA Translation: AAA39806.1
L10370 mRNA Translation: AAA68132.1
X54924 mRNA Translation: CAA38690.1
D30730 mRNA Translation: BAA06395.1
D30731 mRNA Translation: BAA06396.1
CCDSiCCDS25119.1 [Q04690-1]
PIRiI53855
I54352
I67934
I68623
RefSeqiNP_035027.1, NM_010897.2 [Q04690-1]
XP_006532504.1, XM_006532441.3 [Q04690-2]
UniGeneiMm.255596
Mm.488324

Genome annotation databases

EnsembliENSMUST00000071325; ENSMUSP00000071289; ENSMUSG00000020716 [Q04690-1]
ENSMUST00000108251; ENSMUSP00000103886; ENSMUSG00000020716 [Q04690-2]
GeneIDi18015
KEGGimmu:18015
UCSCiuc007kkl.1 mouse [Q04690-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L10369, L10367, L10368 Genomic DNA Translation: AAA39806.1
L10370 mRNA Translation: AAA68132.1
X54924 mRNA Translation: CAA38690.1
D30730 mRNA Translation: BAA06395.1
D30731 mRNA Translation: BAA06396.1
CCDSiCCDS25119.1 [Q04690-1]
PIRiI53855
I54352
I67934
I68623
RefSeqiNP_035027.1, NM_010897.2 [Q04690-1]
XP_006532504.1, XM_006532441.3 [Q04690-2]
UniGeneiMm.255596
Mm.488324

3D structure databases

ProteinModelPortaliQ04690
SMRiQ04690
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi201736, 15 interactors
IntActiQ04690, 12 interactors
MINTiQ04690
STRINGi10090.ENSMUSP00000071289

Chemistry databases

ChEMBLiCHEMBL2176807

PTM databases

iPTMnetiQ04690
PhosphoSitePlusiQ04690

Proteomic databases

MaxQBiQ04690
PaxDbiQ04690
PeptideAtlasiQ04690
PRIDEiQ04690

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000071325; ENSMUSP00000071289; ENSMUSG00000020716 [Q04690-1]
ENSMUST00000108251; ENSMUSP00000103886; ENSMUSG00000020716 [Q04690-2]
GeneIDi18015
KEGGimmu:18015
UCSCiuc007kkl.1 mouse [Q04690-1]

Organism-specific databases

CTDi4763
MGIiMGI:97306 Nf1

Phylogenomic databases

eggNOGiKOG1826 Eukaryota
ENOG410XRPJ LUCA
GeneTreeiENSGT00550000074797
HOGENOMiHOG000047020
HOVERGENiHBG006486
InParanoidiQ04690
KOiK08052
OMAiVITRMCR
OrthoDBiEOG091G03FI
PhylomeDBiQ04690
TreeFamiTF300302

Enzyme and pathway databases

ReactomeiR-MMU-5658442 Regulation of RAS by GAPs

Miscellaneous databases

ChiTaRSiNf1 mouse
PROiPR:Q04690
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000020716 Expressed in 196 organ(s), highest expression level in lumbar subsegment of spinal cord
CleanExiMM_NF1
ExpressionAtlasiQ04690 baseline and differential
GenevisibleiQ04690 MM

Family and domain databases

CDDicd00170 SEC14, 1 hit
Gene3Di2.30.29.30, 1 hit
3.40.525.10, 1 hit
InterProiView 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
PANTHERiPTHR10194 PTHR10194, 1 hit
PfamiView protein in Pfam
PF13716 CRAL_TRIO_2, 1 hit
PF00616 RasGAP, 1 hit
SMARTiView protein in SMART
SM00323 RasGAP, 1 hit
SM00516 SEC14, 1 hit
SUPFAMiSSF48350 SSF48350, 1 hit
SSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50191 CRAL_TRIO, 1 hit
PS00509 RAS_GTPASE_ACTIV_1, 1 hit
PS50018 RAS_GTPASE_ACTIV_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNF1_MOUSE
AccessioniPrimary (citable) accession number: Q04690
Secondary accession number(s): Q61956, Q61957
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: November 7, 2018
This is version 166 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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