Neurofibromin - Mus musculus (Mouse)

Preferred order of sections

Names and origin

Protein names

Recommended name:
Neurofibromin

Alternative name(s):
Neurofibromatosis-related protein NF-1

Gene names

Name:

Nf1

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	2841 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function

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

Tissue specificity

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.

Sequence similarities

Contains 1 CRAL-TRIO domain.

Contains 1 Ras-GAP domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Molecular function	GTPase activation
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	MAPK cascade Inferred from mutant phenotype PubMed 14724565. Source: MGI Ras protein signal transduction Inferred from mutant phenotype PubMed 10498620 PubMed 11435472 PubMed 12469121 PubMed 16906226 PubMed 8563750 PubMed 9001241. Source: MGI actin cytoskeleton organization Inferred from mutant phenotype PubMed 16405917. Source: MGI adrenal gland development Inferred from mutant phenotype PubMed 16906226. Source: MGI artery morphogenesis Inferred from mutant phenotype PubMed 7926784. Source: MGI camera-type eye morphogenesis Inferred from mutant phenotype PubMed 7926784. Source: MGI cerebral cortex development Inferred from mutant phenotype PubMed 11297510. Source: MGI collagen fibril organization Inferred from mutant phenotype PubMed 10383727. Source: MGI forebrain astrocyte development Inferred from mutant phenotype PubMed 15944386. Source: MGI forebrain morphogenesis Inferred from mutant phenotype PubMed 11297510. Source: MGI heart development Inferred from mutant phenotype PubMed 10419687 PubMed 12469121 PubMed 16906226 PubMed 7920653 PubMed 7926784. Source: MGI liver development Inferred from mutant phenotype PubMed 7926784. Source: MGI metanephros development Inferred from mutant phenotype PubMed 7926784. Source: MGI myelination in peripheral nervous system Inferred from mutant phenotype PubMed 10586246. Source: MGI negative regulation of MAP kinase activity Inferred from mutant phenotype PubMed 11297510 PubMed 12409258. Source: MGI negative regulation of Rac protein signal transduction Inferred from genetic interaction PubMed 15665300. Source: MGI negative regulation of angiogenesis Inferred from genetic interaction PubMed 16648142. Source: MGI negative regulation of astrocyte differentiation Inferred from mutant phenotype PubMed 10442636 PubMed 11297510 PubMed 9878702. Source: MGI negative regulation of cell migration Inferred from mutant phenotype PubMed 14724565. Source: MGI negative regulation of cell-matrix adhesion Inferred from genetic interaction PubMed 17053831. Source: MGI negative regulation of endothelial cell proliferation Inferred from mutant phenotype PubMed 16288202. Source: MGI negative regulation of fibroblast proliferation Inferred from mutant phenotype PubMed 20154697. Source: BHF-UCL negative regulation of neuroblast proliferation Inferred from mutant phenotype PubMed 7926784. Source: MGI negative regulation of neurotransmitter secretion Inferred from mutant phenotype PubMed 16298082. Source: MGI negative regulation of oligodendrocyte differentiation Inferred from mutant phenotype PubMed 15944386. Source: MGI negative regulation of osteoclast differentiation Inferred from genetic interaction PubMed 17053831. Source: MGI negative regulation of transcription factor import into nucleus Inferred from mutant phenotype PubMed 12469121. Source: MGI neural tube development Inferred from genetic interaction PubMed 10419687. Source: MGI osteoblast differentiation Inferred from mutant phenotype PubMed 16893911. Source: MGI phosphatidylinositol 3-kinase cascade Inferred from mutant phenotype PubMed 14724565. Source: MGI pigmentation Inferred from mutant phenotype PubMed 10594763 PubMed 10844550. Source: MGI positive regulation of adenylate cyclase activity Inferred from mutant phenotype PubMed 11788835. Source: MGI positive regulation of endothelial cell proliferation Inferred from genetic interaction PubMed 16644864. Source: MGI positive regulation of neuron apoptotic process Inferred from mutant phenotype PubMed 11297510 PubMed 7671302. Source: MGI regulation of blood vessel endothelial cell migration Inferred from electronic annotation. Source: Compara regulation of bone resorption Inferred from mutant phenotype PubMed 17053831. Source: MGI regulation of long-term neuronal synaptic plasticity Inferred from mutant phenotype PubMed 11793011. Source: MGI regulation of synaptic transmission, GABAergic Inferred from genetic interaction PubMed 11793011. Source: MGI response to hypoxia Inferred from mutant phenotype PubMed 16288202. Source: MGI skeletal muscle tissue development Inferred from mutant phenotype PubMed 7926784. Source: MGI smooth muscle tissue development Inferred from mutant phenotype PubMed 7926784. Source: MGI spinal cord development Inferred from mutant phenotype PubMed 16906226. Source: MGI sympathetic nervous system development Inferred from mutant phenotype PubMed 16906226 PubMed 7926784. Source: MGI visual learning Inferred from mutant phenotype PubMed 11279521 PubMed 11793011. Source: MGI wound healing Inferred from mutant phenotype PubMed 10383727. Source: MGI
Cellular_component	axon Inferred from electronic annotation. Source: Compara cytoplasm Inferred from direct assay PubMed 15133494. Source: MGI dendrite Inferred from electronic annotation. Source: Compara intrinsic to internal side of plasma membrane Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	Ras GTPase activator activity Inferred from genetic interaction PubMed 15665300. Source: MGI
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 2 (identifier: Q04690-1) 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.

Isoform 1 (identifier: Q04690-2) Also known as: Type I; The sequence of this isoform differs from the canonical sequence as follows: 1373-1393: Missing.

Isoform 3 (identifier: Q04690-3) The sequence of this isoform differs from the canonical sequence as follows: 1394-1406: VVSQRFPQNSIGA → VPKSSCFSCLNNRWLASASLRTASVP 1407-2841: Missing.

Isoform 4 (identifier: Q04690-4) The sequence of this isoform differs from the canonical sequence as follows: 1373-1393: Missing. 1394-1406: VVSQRFPQNSIGA → VPKSSCFSCLNNRWLASASLRTASVP 1407-2841: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

Removed By similarity

Chain

2 – 2841

2840

Neurofibromin

PRO_0000056666

Regions

Domain

1237 – 1453

217

Ras-GAP

Domain

1582 – 1740

159

CRAL-TRIO

Compositional bias

1354 – 1357

4

Poly-Ser

Amino acid modifications

Modified residue

2

1

N-acetylalanine By similarity

Modified residue

866

1

Phosphoserine By similarity

Modified residue

878

1

Phosphoserine By similarity

Modified residue

2190

1

Phosphoserine By similarity

Modified residue

2516

1

Phosphothreonine Ref.5

Modified residue

2517

1

Phosphoserine By similarity

Modified residue

2523

1

Phosphoserine By similarity

Modified residue

2545

1

Phosphoserine Ref.6

Modified residue

2819

1

Phosphoserine Ref.6

Natural variations

Alternative sequence

1373 – 1393

21

Missing in isoform 1 and isoform 4.

VSP_001633

Alternative sequence

1394 – 1406

13

VVSQR…NSIGA → VPKSSCFSCLNNRWLASASL RTASVP in isoform 3 and isoform 4.

VSP_001634

Alternative sequence

1407 – 2841

1435

Missing in isoform 3 and isoform 4.

VSP_001635

Sequences

Sequence		Length	Mass (Da)
Isoform 2 (Type II) [UniParc]. Last modified June 1, 1994. Version 1. Checksum: 06650BDCDC531002 Show »	FASTA	2,841	319,596
10 20 30 40 50 60 MAAHRPVEWV QAVVSRFDEQ LPIKTGQQNT HTKVSTEHNK ECLINISKYK FSLVISGLTT 70 80 90 100 110 120 ILKNVNNMRI FGEAAEKNLY LSQLIILDTL EKCLAGQPKD TMRLDETMLV KQLLPEICHF 130 140 150 160 170 180 LHTCREGNQH AAELRNSASG VLFSLSCNNF NAVFSRISTR LQELTVCSED NVDVHDIELL 190 200 210 220 230 240 QYINVDCAKL KRLLKETAFK FKALKKVAQL AVINSLEKAF WNWVENYPDE FTKLYQIPQT 250 260 270 280 290 300 DMAECAEKLF DLVDGFAEST KRKAAVWPLQ IILLILCPEI IQDISKDVVD ESNINKKLFL 310 320 330 340 350 360 DSLRKALAGH GGSRQLTESA AIACVKLCKA STYINWEDNS VIFLLVQSMV VDLKNLLFNP 370 380 390 400 410 420 SKPFSRGSQP ADVDLMIDCL VSCFRISPHN NQHFKICLAQ NSPSTFHYVL VNSLHRIITN 430 440 450 460 470 480 SALDWWPKID AVYCHSVELR NMFGETLHKA VQGCGAHPAI RMAPSLTFKE KVTSLKFKEK 490 500 510 520 530 540 PTDLETRSYK CLLLSMVKLI HADPKLLLCN PRKQGPETQS STAELITGLV QLVPQSHMPE 550 560 570 580 590 600 VAQEAMEALL VLHQLDSIDL WNPDAPVETF WEISSQMLFY ICKKLTSHQM LSSTEILKWL 610 620 630 640 650 660 REILICRNKF LLKNKQADRS SCHSLYLYGV GCEMSATGNT TQMSVDHDEF LRACTPGASL 670 680 690 700 710 720 RKGRGNSSMD STAGCSGTPP ICRQAQTKLE VALYMFLWNP DTEAVLVAMS CFRHLCEEAD 730 740 750 760 770 780 IRCGVDEVSV HNFLPNYNTF MEFASVSNMM STGRAALQKR VMALLRRIEH PTAGNIEAWE 790 800 810 820 830 840 DTHAKWEQAT KLILNYPKAK MEDGQAAESL HKTIVKRRMS HVSGGGSIDL SDTDSLQEWI 850 860 870 880 890 900 NMTGFLCALG GVCLQQRSSS GLATYSPPMG AVSERKGSMI SVMSSEGNID SPVSRFMDRL 910 920 930 940 950 960 LSLMVCNHEK VGLQIRTNVK DLVGLELSPA LYPMLFNKLK NTISKFFDSQ GQVLLSDSNT 970 980 990 1000 1010 1020 QFVEQTIAIM KNLLDNHTEG SSEHLGQASI ETMMLNLVRY VRVLGNMVHA IQIKTKLCQL 1030 1040 1050 1060 1070 1080 VEVMMARRDD LSFCQEMKFR NKMVEYLTDW VMGTSNQAAD DDIKCLTRDL DQASMEAVVS 1090 1100 1110 1120 1130 1140 LLAGLPLQPE EGDGVELMEA KSQLFLKYFT LFMNLLNDCS EVEDENAQTG GRKRGMSRRL 1150 1160 1170 1180 1190 1200 ASLRHCTVLA MSNLLNANVD SGLMHSIGLG YHKDLQTRAT FMEVLTKILQ QGTEFDTLAE 1210 1220 1230 1240 1250 1260 TVLADRFERL VELVTMMGDQ GELPIAMALA NVVPCSQWDE LARVLVTLFD SRHLLYQLLW 1270 1280 1290 1300 1310 1320 NMFSKEVELA DSMQTLFRGN SLASKIMTFC FKVYGATYLQ KLLDPLLRVI ITSSDWQHVS 1330 1340 1350 1360 1370 1380 FEVDPTRLEP SESLEENQRN LLQMTEKFFH AIISSSSEFP SQLRSVCHCL YQATCHSLLN 1390 1400 1410 1420 1430 1440 KATVKERKEN KKSVVSQRFP QNSIGAVGSA MFLRFINPAI VSPYEAGILD KKPPPRIERG 1450 1460 1470 1480 1490 1500 LKLMSKVLQS IANHVLFTKE EHMRPFNDFV KSNFDLARRF FLDIASDCPT SDAVNHSLSF 1510 1520 1530 1540 1550 1560 ISDGNVLALH RLLWNNQEKI GQYLSSNRDH KAVGRRPFDK MATLLAYLGP PEHKPVADTH 1570 1580 1590 1600 1610 1620 WSSLNLTSSK FEEFMTRHQV HEKEEFKALK TLSIFYQAGT SKAGNPIFYY VARRFKTGQI 1630 1640 1650 1660 1670 1680 NGDLLIYHVL LTLKPYYAKP YEIVVDLTHT GPSNRFKTDF LSKWFVVFPG FAYDNVSAVY 1690 1700 1710 1720 1730 1740 IYNCNSWVRE YTKYHERLLT GLKGSKRLIF IDCPGKLAEH IEHEQQKLPA ATLALEEDLK 1750 1760 1770 1780 1790 1800 VFHNALKLAH KDTKVSIKVG STAVQVTSAE RTKVLGQSVF LNDIYYASEI EEICLVDENQ 1810 1820 1830 1840 1850 1860 FTLTIANQGT PLTFMHQECE AIVQSIIHIR TRWELSQPDS IPQHTKIRPK DVPGTLLNIA 1870 1880 1890 1900 1910 1920 LLNLGSSDPS LRSAAYNLLC ALTCTFNLKI EGQLLETSGL CIPANNTLFI VSISKTLAAN 1930 1940 1950 1960 1970 1980 EPHLTLEFLE ECISGFSKSS IELKHLCLEY MTPWLSNLVR FCKHNDDAKR QRVTAILDKL 1990 2000 2010 2020 2030 2040 ITMTINEKQM YPSIQAKIWG SLGQITDLLD VVLDSFIKTS ATGGLGSIKA EVMADTAVAL 2050 2060 2070 2080 2090 2100 ASGNVKLVSS KVIGRMCKII DKTCLSPTPT LEQHLMWDDI AILARYMLML SFNNSLDVAA 2110 2120 2130 2140 2150 2160 HLPYLFHVVT FLVATGPLSL RASTHGLLIN IIHSLCTCSQ LHFSEETKQV LRLSLTEFSL 2170 2180 2190 2200 2210 2220 PKFYLLFGIS KVKSAAVIAF RSSYRDRSFS PGSYERETFA LTSLETVTEA LLEIMEACMR 2230 2240 2250 2260 2270 2280 DIPTCKWLDQ WTELAQRFAF QYNPSLQPRA LVVFGCISKR VSHGQIKQII RILSKALESC 2290 2300 2310 2320 2330 2340 LKGPDTYNSQ VLIESTVIAL TKLQPLLNKD SPLHKALFWV AVAVLQLDEV NLYSAGTALL 2350 2360 2370 2380 2390 2400 EQNLHTLDSL RIFNDKSPEE VFMAIRNPLE WHCKQMDHFV GLNFNSNFNF ALVGHLLKGY 2410 2420 2430 2440 2450 2460 RHPSPAIVAR TVRILHTLLT LVNKHRNCDK FEVNTQSVAY LAALLTVSEE VRSRCSLKHR 2470 2480 2490 2500 2510 2520 KSLLLTDISM ENVPMDTYPI HHGDPSYRTL KETQPWSSPK GSEGYLAATY PAVGQTSPRA 2530 2540 2550 2560 2570 2580 RKSMSLDMGQ PSQANTKKLL GTRKSFDHLI SDTKAPKRQE MESGITTPPK MRRVAETDYE 2590 2600 2610 2620 2630 2640 METQRIPSSQ QHPHLRKVSV SESNVLLDEE VLTDPKIQAL LLTVLATLVK YTTDEFDQRI 2650 2660 2670 2680 2690 2700 LYEYLAEASV VFPKVFPVVH NLLDSKINTL LSLCQDPNLL NPIHGIVQSV VYHEESPPQY 2710 2720 2730 2740 2750 2760 QTSYLQSFGF NGLWRFAGPF SKQTQIPDYA ELIVKFLDAL IDTYLPGIDE ETSEESLLTP 2770 2780 2790 2800 2810 2820 TSPYPPALQS QLSITANLNL SNSMTSLATS QHSPGLDKEN VELSPTAGHC NSGRTRHGSA 2830 2840 SQVQKQRSAG SFKRNSIKKI V « Hide
Isoform 1 (Type I) [UniParc]. Checksum: 5CA21CD5946C597B Show »	FASTA	2,820	317,228
10 20 30 40 50 60 MAAHRPVEWV QAVVSRFDEQ LPIKTGQQNT HTKVSTEHNK ECLINISKYK FSLVISGLTT 70 80 90 100 110 120 ILKNVNNMRI FGEAAEKNLY LSQLIILDTL EKCLAGQPKD TMRLDETMLV KQLLPEICHF 130 140 150 160 170 180 LHTCREGNQH AAELRNSASG VLFSLSCNNF NAVFSRISTR LQELTVCSED NVDVHDIELL 190 200 210 220 230 240 QYINVDCAKL KRLLKETAFK FKALKKVAQL AVINSLEKAF WNWVENYPDE FTKLYQIPQT 250 260 270 280 290 300 DMAECAEKLF DLVDGFAEST KRKAAVWPLQ IILLILCPEI IQDISKDVVD ESNINKKLFL 310 320 330 340 350 360 DSLRKALAGH GGSRQLTESA AIACVKLCKA STYINWEDNS VIFLLVQSMV VDLKNLLFNP 370 380 390 400 410 420 SKPFSRGSQP ADVDLMIDCL VSCFRISPHN NQHFKICLAQ NSPSTFHYVL VNSLHRIITN 430 440 450 460 470 480 SALDWWPKID AVYCHSVELR NMFGETLHKA VQGCGAHPAI RMAPSLTFKE KVTSLKFKEK 490 500 510 520 530 540 PTDLETRSYK CLLLSMVKLI HADPKLLLCN PRKQGPETQS STAELITGLV QLVPQSHMPE 550 560 570 580 590 600 VAQEAMEALL VLHQLDSIDL WNPDAPVETF WEISSQMLFY ICKKLTSHQM LSSTEILKWL 610 620 630 640 650 660 REILICRNKF LLKNKQADRS SCHSLYLYGV GCEMSATGNT TQMSVDHDEF LRACTPGASL 670 680 690 700 710 720 RKGRGNSSMD STAGCSGTPP ICRQAQTKLE VALYMFLWNP DTEAVLVAMS CFRHLCEEAD 730 740 750 760 770 780 IRCGVDEVSV HNFLPNYNTF MEFASVSNMM STGRAALQKR VMALLRRIEH PTAGNIEAWE 790 800 810 820 830 840 DTHAKWEQAT KLILNYPKAK MEDGQAAESL HKTIVKRRMS HVSGGGSIDL SDTDSLQEWI 850 860 870 880 890 900 NMTGFLCALG GVCLQQRSSS GLATYSPPMG AVSERKGSMI SVMSSEGNID SPVSRFMDRL 910 920 930 940 950 960 LSLMVCNHEK VGLQIRTNVK DLVGLELSPA LYPMLFNKLK NTISKFFDSQ GQVLLSDSNT 970 980 990 1000 1010 1020 QFVEQTIAIM KNLLDNHTEG SSEHLGQASI ETMMLNLVRY VRVLGNMVHA IQIKTKLCQL 1030 1040 1050 1060 1070 1080 VEVMMARRDD LSFCQEMKFR NKMVEYLTDW VMGTSNQAAD DDIKCLTRDL DQASMEAVVS 1090 1100 1110 1120 1130 1140 LLAGLPLQPE EGDGVELMEA KSQLFLKYFT LFMNLLNDCS EVEDENAQTG GRKRGMSRRL 1150 1160 1170 1180 1190 1200 ASLRHCTVLA MSNLLNANVD SGLMHSIGLG YHKDLQTRAT FMEVLTKILQ QGTEFDTLAE 1210 1220 1230 1240 1250 1260 TVLADRFERL VELVTMMGDQ GELPIAMALA NVVPCSQWDE LARVLVTLFD SRHLLYQLLW 1270 1280 1290 1300 1310 1320 NMFSKEVELA DSMQTLFRGN SLASKIMTFC FKVYGATYLQ KLLDPLLRVI ITSSDWQHVS 1330 1340 1350 1360 1370 1380 FEVDPTRLEP SESLEENQRN LLQMTEKFFH AIISSSSEFP SQLRSVCHCL YQVVSQRFPQ 1390 1400 1410 1420 1430 1440 NSIGAVGSAM FLRFINPAIV SPYEAGILDK KPPPRIERGL KLMSKVLQSI ANHVLFTKEE 1450 1460 1470 1480 1490 1500 HMRPFNDFVK SNFDLARRFF LDIASDCPTS DAVNHSLSFI SDGNVLALHR LLWNNQEKIG 1510 1520 1530 1540 1550 1560 QYLSSNRDHK AVGRRPFDKM ATLLAYLGPP EHKPVADTHW SSLNLTSSKF EEFMTRHQVH 1570 1580 1590 1600 1610 1620 EKEEFKALKT LSIFYQAGTS KAGNPIFYYV ARRFKTGQIN GDLLIYHVLL TLKPYYAKPY 1630 1640 1650 1660 1670 1680 EIVVDLTHTG PSNRFKTDFL SKWFVVFPGF AYDNVSAVYI YNCNSWVREY TKYHERLLTG 1690 1700 1710 1720 1730 1740 LKGSKRLIFI DCPGKLAEHI EHEQQKLPAA TLALEEDLKV FHNALKLAHK DTKVSIKVGS 1750 1760 1770 1780 1790 1800 TAVQVTSAER TKVLGQSVFL NDIYYASEIE EICLVDENQF TLTIANQGTP LTFMHQECEA 1810 1820 1830 1840 1850 1860 IVQSIIHIRT RWELSQPDSI PQHTKIRPKD VPGTLLNIAL LNLGSSDPSL RSAAYNLLCA 1870 1880 1890 1900 1910 1920 LTCTFNLKIE GQLLETSGLC IPANNTLFIV SISKTLAANE PHLTLEFLEE CISGFSKSSI 1930 1940 1950 1960 1970 1980 ELKHLCLEYM TPWLSNLVRF CKHNDDAKRQ RVTAILDKLI TMTINEKQMY PSIQAKIWGS 1990 2000 2010 2020 2030 2040 LGQITDLLDV VLDSFIKTSA TGGLGSIKAE VMADTAVALA SGNVKLVSSK VIGRMCKIID 2050 2060 2070 2080 2090 2100 KTCLSPTPTL EQHLMWDDIA ILARYMLMLS FNNSLDVAAH LPYLFHVVTF LVATGPLSLR 2110 2120 2130 2140 2150 2160 ASTHGLLINI IHSLCTCSQL HFSEETKQVL RLSLTEFSLP KFYLLFGISK VKSAAVIAFR 2170 2180 2190 2200 2210 2220 SSYRDRSFSP GSYERETFAL TSLETVTEAL LEIMEACMRD IPTCKWLDQW TELAQRFAFQ 2230 2240 2250 2260 2270 2280 YNPSLQPRAL VVFGCISKRV SHGQIKQIIR ILSKALESCL KGPDTYNSQV LIESTVIALT 2290 2300 2310 2320 2330 2340 KLQPLLNKDS PLHKALFWVA VAVLQLDEVN LYSAGTALLE QNLHTLDSLR IFNDKSPEEV 2350 2360 2370 2380 2390 2400 FMAIRNPLEW HCKQMDHFVG LNFNSNFNFA LVGHLLKGYR HPSPAIVART VRILHTLLTL 2410 2420 2430 2440 2450 2460 VNKHRNCDKF EVNTQSVAYL AALLTVSEEV RSRCSLKHRK SLLLTDISME NVPMDTYPIH 2470 2480 2490 2500 2510 2520 HGDPSYRTLK ETQPWSSPKG SEGYLAATYP AVGQTSPRAR KSMSLDMGQP SQANTKKLLG 2530 2540 2550 2560 2570 2580 TRKSFDHLIS DTKAPKRQEM ESGITTPPKM RRVAETDYEM ETQRIPSSQQ HPHLRKVSVS 2590 2600 2610 2620 2630 2640 ESNVLLDEEV LTDPKIQALL LTVLATLVKY TTDEFDQRIL YEYLAEASVV FPKVFPVVHN 2650 2660 2670 2680 2690 2700 LLDSKINTLL SLCQDPNLLN PIHGIVQSVV YHEESPPQYQ TSYLQSFGFN GLWRFAGPFS 2710 2720 2730 2740 2750 2760 KQTQIPDYAE LIVKFLDALI DTYLPGIDEE TSEESLLTPT SPYPPALQSQ LSITANLNLS 2770 2780 2790 2800 2810 2820 NSMTSLATSQ HSPGLDKENV ELSPTAGHCN SGRTRHGSAS QVQKQRSAGS FKRNSIKKIV « Hide
Isoform 3 [UniParc]. Checksum: EBA01C4F82A4A46C Show »	FASTA	1,419	159,714
10 20 30 40 50 60 MAAHRPVEWV QAVVSRFDEQ LPIKTGQQNT HTKVSTEHNK ECLINISKYK FSLVISGLTT 70 80 90 100 110 120 ILKNVNNMRI FGEAAEKNLY LSQLIILDTL EKCLAGQPKD TMRLDETMLV KQLLPEICHF 130 140 150 160 170 180 LHTCREGNQH AAELRNSASG VLFSLSCNNF NAVFSRISTR LQELTVCSED NVDVHDIELL 190 200 210 220 230 240 QYINVDCAKL KRLLKETAFK FKALKKVAQL AVINSLEKAF WNWVENYPDE FTKLYQIPQT 250 260 270 280 290 300 DMAECAEKLF DLVDGFAEST KRKAAVWPLQ IILLILCPEI IQDISKDVVD ESNINKKLFL 310 320 330 340 350 360 DSLRKALAGH GGSRQLTESA AIACVKLCKA STYINWEDNS VIFLLVQSMV VDLKNLLFNP 370 380 390 400 410 420 SKPFSRGSQP ADVDLMIDCL VSCFRISPHN NQHFKICLAQ NSPSTFHYVL VNSLHRIITN 430 440 450 460 470 480 SALDWWPKID AVYCHSVELR NMFGETLHKA VQGCGAHPAI RMAPSLTFKE KVTSLKFKEK 490 500 510 520 530 540 PTDLETRSYK CLLLSMVKLI HADPKLLLCN PRKQGPETQS STAELITGLV QLVPQSHMPE 550 560 570 580 590 600 VAQEAMEALL VLHQLDSIDL WNPDAPVETF WEISSQMLFY ICKKLTSHQM LSSTEILKWL 610 620 630 640 650 660 REILICRNKF LLKNKQADRS SCHSLYLYGV GCEMSATGNT TQMSVDHDEF LRACTPGASL 670 680 690 700 710 720 RKGRGNSSMD STAGCSGTPP ICRQAQTKLE VALYMFLWNP DTEAVLVAMS CFRHLCEEAD 730 740 750 760 770 780 IRCGVDEVSV HNFLPNYNTF MEFASVSNMM STGRAALQKR VMALLRRIEH PTAGNIEAWE 790 800 810 820 830 840 DTHAKWEQAT KLILNYPKAK MEDGQAAESL HKTIVKRRMS HVSGGGSIDL SDTDSLQEWI 850 860 870 880 890 900 NMTGFLCALG GVCLQQRSSS GLATYSPPMG AVSERKGSMI SVMSSEGNID SPVSRFMDRL 910 920 930 940 950 960 LSLMVCNHEK VGLQIRTNVK DLVGLELSPA LYPMLFNKLK NTISKFFDSQ GQVLLSDSNT 970 980 990 1000 1010 1020 QFVEQTIAIM KNLLDNHTEG SSEHLGQASI ETMMLNLVRY VRVLGNMVHA IQIKTKLCQL 1030 1040 1050 1060 1070 1080 VEVMMARRDD LSFCQEMKFR NKMVEYLTDW VMGTSNQAAD DDIKCLTRDL DQASMEAVVS 1090 1100 1110 1120 1130 1140 LLAGLPLQPE EGDGVELMEA KSQLFLKYFT LFMNLLNDCS EVEDENAQTG GRKRGMSRRL 1150 1160 1170 1180 1190 1200 ASLRHCTVLA MSNLLNANVD SGLMHSIGLG YHKDLQTRAT FMEVLTKILQ QGTEFDTLAE 1210 1220 1230 1240 1250 1260 TVLADRFERL VELVTMMGDQ GELPIAMALA NVVPCSQWDE LARVLVTLFD SRHLLYQLLW 1270 1280 1290 1300 1310 1320 NMFSKEVELA DSMQTLFRGN SLASKIMTFC FKVYGATYLQ KLLDPLLRVI ITSSDWQHVS 1330 1340 1350 1360 1370 1380 FEVDPTRLEP SESLEENQRN LLQMTEKFFH AIISSSSEFP SQLRSVCHCL YQATCHSLLN 1390 1400 1410 KATVKERKEN KKSVPKSSCF SCLNNRWLAS ASLRTASVP « Hide
Isoform 4 [UniParc]. Checksum: AF69F30DFD7C4F9A Show »	FASTA	1,398	157,347
10 20 30 40 50 60 MAAHRPVEWV QAVVSRFDEQ LPIKTGQQNT HTKVSTEHNK ECLINISKYK FSLVISGLTT 70 80 90 100 110 120 ILKNVNNMRI FGEAAEKNLY LSQLIILDTL EKCLAGQPKD TMRLDETMLV KQLLPEICHF 130 140 150 160 170 180 LHTCREGNQH AAELRNSASG VLFSLSCNNF NAVFSRISTR LQELTVCSED NVDVHDIELL 190 200 210 220 230 240 QYINVDCAKL KRLLKETAFK FKALKKVAQL AVINSLEKAF WNWVENYPDE FTKLYQIPQT 250 260 270 280 290 300 DMAECAEKLF DLVDGFAEST KRKAAVWPLQ IILLILCPEI IQDISKDVVD ESNINKKLFL 310 320 330 340 350 360 DSLRKALAGH GGSRQLTESA AIACVKLCKA STYINWEDNS VIFLLVQSMV VDLKNLLFNP 370 380 390 400 410 420 SKPFSRGSQP ADVDLMIDCL VSCFRISPHN NQHFKICLAQ NSPSTFHYVL VNSLHRIITN 430 440 450 460 470 480 SALDWWPKID AVYCHSVELR NMFGETLHKA VQGCGAHPAI RMAPSLTFKE KVTSLKFKEK 490 500 510 520 530 540 PTDLETRSYK CLLLSMVKLI HADPKLLLCN PRKQGPETQS STAELITGLV QLVPQSHMPE 550 560 570 580 590 600 VAQEAMEALL VLHQLDSIDL WNPDAPVETF WEISSQMLFY ICKKLTSHQM LSSTEILKWL 610 620 630 640 650 660 REILICRNKF LLKNKQADRS SCHSLYLYGV GCEMSATGNT TQMSVDHDEF LRACTPGASL 670 680 690 700 710 720 RKGRGNSSMD STAGCSGTPP ICRQAQTKLE VALYMFLWNP DTEAVLVAMS CFRHLCEEAD 730 740 750 760 770 780 IRCGVDEVSV HNFLPNYNTF MEFASVSNMM STGRAALQKR VMALLRRIEH PTAGNIEAWE 790 800 810 820 830 840 DTHAKWEQAT KLILNYPKAK MEDGQAAESL HKTIVKRRMS HVSGGGSIDL SDTDSLQEWI 850 860 870 880 890 900 NMTGFLCALG GVCLQQRSSS GLATYSPPMG AVSERKGSMI SVMSSEGNID SPVSRFMDRL 910 920 930 940 950 960 LSLMVCNHEK VGLQIRTNVK DLVGLELSPA LYPMLFNKLK NTISKFFDSQ GQVLLSDSNT 970 980 990 1000 1010 1020 QFVEQTIAIM KNLLDNHTEG SSEHLGQASI ETMMLNLVRY VRVLGNMVHA IQIKTKLCQL 1030 1040 1050 1060 1070 1080 VEVMMARRDD LSFCQEMKFR NKMVEYLTDW VMGTSNQAAD DDIKCLTRDL DQASMEAVVS 1090 1100 1110 1120 1130 1140 LLAGLPLQPE EGDGVELMEA KSQLFLKYFT LFMNLLNDCS EVEDENAQTG GRKRGMSRRL 1150 1160 1170 1180 1190 1200 ASLRHCTVLA MSNLLNANVD SGLMHSIGLG YHKDLQTRAT FMEVLTKILQ QGTEFDTLAE 1210 1220 1230 1240 1250 1260 TVLADRFERL VELVTMMGDQ GELPIAMALA NVVPCSQWDE LARVLVTLFD SRHLLYQLLW 1270 1280 1290 1300 1310 1320 NMFSKEVELA DSMQTLFRGN SLASKIMTFC FKVYGATYLQ KLLDPLLRVI ITSSDWQHVS 1330 1340 1350 1360 1370 1380 FEVDPTRLEP SESLEENQRN LLQMTEKFFH AIISSSSEFP SQLRSVCHCL YQVPKSSCFS 1390 CLNNRWLASA SLRTASVP « Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments." Bernards A., Snijders A.J., Hannigan G.E., Murthy A.E., Gusella J.F. Hum. Mol. Genet. 2:645-650(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. Strain: BALB/c. Tissue: Brain.
[2]	"A novel isoform of the neurofibromatosis type-1 mRNA and a switch of isoforms during murine cell differentiation and proliferation." Mantani A., Makasugi S., Yokota Y., Abe K., Ushio Y., Yamamura K. Gene 148:245-251(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1178-1555, ALTERNATIVE SPLICING.
[3]	"Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway." Buchberg A.M., Cleveland L.S., Jenkins N.A., Copeland N.G. Nature 347:291-294(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 1950-2568.
[4]	Lubec G., Sunyer B., Chen W.-Q. Submitted (JAN-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 1973-1979, MASS SPECTROMETRY. Strain: OF1. Tissue: Hippocampus.
[5]	"Qualitative and quantitative analyses of protein phosphorylation in naive and stimulated mouse synaptosomal preparations." Munton R.P., Tweedie-Cullen R., Livingstone-Zatchej M., Weinandy F., Waidelich M., Longo D., Gehrig P., Potthast F., Rutishauser D., Gerrits B., Panse C., Schlapbach R., Mansuy I.M. Mol. Cell. Proteomics 6:283-293(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-2516, MASS SPECTROMETRY. Tissue: Brain cortex.
[6]	"Solid tumor proteome and phosphoproteome analysis by high resolution mass spectrometry." Zanivan S., Gnad F., Wickstroem S.A., Geiger T., Macek B., Cox J., Faessler R., Mann M. J. Proteome Res. 7:5314-5326(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2545 AND SER-2819, MASS SPECTROMETRY. Tissue: Melanoma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00108783. IPI00223398. IPI00223399. IPI00223400.
PIR	I53855. I54352. I67934. I68623.
RefSeq	NP_035027.1. NM_010897.2.
UniGene	Mm.255596. Mm.488324.
3D structure databases
ProteinModelPortal	Q04690.
SMR	Q04690. Positions 1208-1552, 1583-1839.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q04690. 5 interactions.
PTM databases
PhosphoSite	Q04690.
Proteomic databases
PaxDb	Q04690.
PRIDE	Q04690.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000071325; ENSMUSP00000071289; ENSMUSG00000020716. ENSMUST00000108251; ENSMUSP00000103886; ENSMUSG00000020716.
GeneID	18015.
KEGG	mmu:18015.
Organism-specific databases
CTD	4763.
MGI	MGI:97306. Nf1.
Phylogenomic databases
eggNOG	COG5261.
GeneTree	ENSGT00550000074797.
HOGENOM	HOG000047020.
HOVERGEN	HBG006486.
InParanoid	Q04690.
KO	K08052.
OMA	RRIEHPT.
OrthoDB	EOG4MPHP6.
Gene expression databases
ArrayExpress	Q04690.
Bgee	Q04690.
CleanEx	MM_NF1.
Genevestigator	Q04690.
GermOnline	ENSMUSG00000020716. Mus musculus.
Family and domain databases
Gene3D	1.25.10.10. 5 hits.
InterPro	IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR001251. CRAL-TRIO_dom. IPR001936. RasGAP. IPR023152. RasGAP_CS. IPR008936. Rho_GTPase_activation_prot. [Graphical view]
Pfam	PF00616. RasGAP. 1 hit. [Graphical view]
SMART	SM00323. RasGAP. 1 hit. SM00516. SEC14. 1 hit. [Graphical view]
SUPFAM	SSF48371. ARM-type_fold. 2 hits. SSF48350. Rho_GAP. 1 hit.
PROSITE	PS50191. CRAL_TRIO. 1 hit. PS00509. RAS_GTPASE_ACTIV_1. 1 hit. PS50018. RAS_GTPASE_ACTIV_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	NF1. mouse.
NextBio	293049.
SOURCE	Search...

Entry information

Entry name

NF1_MOUSE

Accession

Primary (citable) accession number: Q04690
Secondary accession number(s): Q61956, Q61957

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	June 1, 1994
Last modified:	April 3, 2013
This is version 118 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Relevant documents

MGD cross-references

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

SIMILARITY comments

Index of protein domains and families

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Alternative products

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents