Reviewed, UniProtKB/Swiss-Prot P21359 (NF1_HUMAN)

Names and origin

Protein names

Recommended name:
    Neurofibromin
Alternative name(s):
    Neurofibromatosis-related protein NF-1
Cleaved into the following chain:
    1- Recommended name:
            Neurofibromin truncated

Gene names

Name:

NF1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	2839 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. Ref.15
Involvement in disease	Defects in NF1 are the cause of type 1 neurofibromatosis (NF1) [MIM:162200]; also called Von Recklinghausen syndrome. NF1 is one of the most frequent autosomal dominant diseases (about 1 in 3000). It exhibits full penetrance by the age of 5 years and high mutation rate with 30 to 50% of NF1 patients representing a new mutation. Among the many clinical features of NF1 are patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, peripheral nervous system associated tumors and fibromatous skin tumors. Ref.7 Ref.29 Ref.32 Ref.33 Ref.34 Ref.35 Ref.36 Ref.37 Ref.38 Ref.39 Ref.40 Ref.41 Ref.42 Ref.43 Ref.44 Ref.45 Ref.46 Ref.48 Ref.50 Ref.51 Ref.53 Ref.54 Ref.55 Ref.56 Ref.57 Ref.58 Ref.59 Ref.60 Defects in NF1 are a cause of juvenile myelomonocytic leukemia (JMML) [MIM:607785]. JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. Germline mutations of NF1 account for the association of JMML with type 1 neurofibromatosis (NF1). Defects in NF1 are the cause of Watson syndrome (WS) [MIM:193520]. WS is characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. WS is considered as an atypical form of NF1. Defects in NF1 are a cause of familial spinal neurofibromatosis (spinal NF) [MIM:162210]. Familial spinal NF is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. Defects in NF1 are a cause of neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]. NFNS is characterized 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. Ref.52 Ref.61 Defects in NF1 may be a cause of colorectal cancer (CRC) [MIM:114500].
Sequence similarities	Contains 1 CRAL-TRIO domain. Contains 1 Ras-GAP domain.
Caution	Was originally (Ref.36) thought to be associated with LEOPARD (LS), an autosomal dominant syndrome.
RNA editing	Edited at position 1306. 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. Ref.16 Ref.17

Ontologies

Keywords
Biological process	Cell cycle
Coding sequence diversity	Alternative splicing Polymorphism RNA editing
Disease	Disease mutation
Molecular function	Anti-oncogene GTPase activation
PTM	Acetylation Phosphoprotein
Technical term	3D-structure
Gene Ontology (GO)
Biological process	MAPKKK cascade Inferred from sequence or structural similarity. Source: HGNC Ras protein signal transduction Inferred from sequence or structural similarity. Source: HGNC actin cytoskeleton organization Inferred from sequence or structural similarity. Source: HGNC adrenal gland development Inferred from sequence or structural similarity. Source: HGNC artery morphogenesis Inferred from sequence or structural similarity. Source: HGNC camera-type eye morphogenesis Inferred from sequence or structural similarity. Source: HGNC cell cycle Inferred from electronic annotation. Source: UniProtKB-KW cerebral cortex development Inferred from sequence or structural similarity. Source: HGNC collagen fibril organization Inferred from sequence or structural similarity. Source: HGNC forebrain astrocyte development Inferred from sequence or structural similarity. Source: HGNC forebrain morphogenesis Inferred from sequence or structural similarity. Source: HGNC heart development Inferred from sequence or structural similarity. Source: HGNC liver development Inferred from sequence or structural similarity. Source: HGNC metanephros development Inferred from sequence or structural similarity. Source: HGNC myelination in the peripheral nervous system Inferred from sequence or structural similarity. Source: HGNC negative regulation of MAP kinase activity Inferred from sequence or structural similarity. Source: HGNC negative regulation of MAPKKK cascade Inferred from mutant phenotype. Source: MGI negative regulation of cell cycle Inferred from electronic annotation. Source: UniProtKB-KW negative regulation of cell migration Inferred from mutant phenotype. Source: MGI negative regulation of endothelial cell proliferation Inferred from mutant phenotype. Source: MGI negative regulation of neuroblast proliferation Inferred from sequence or structural similarity. Source: HGNC negative regulation of oligodendrocyte differentiation Inferred from sequence or structural similarity. Source: HGNC negative regulation of transcription factor import into nucleus Inferred from sequence or structural similarity. Source: HGNC osteoblast differentiation Inferred from sequence or structural similarity. Source: HGNC phosphoinositide 3-kinase cascade Inferred from sequence or structural similarity. Source: HGNC pigmentation Inferred from sequence or structural similarity. Source: HGNC positive regulation of Ras GTPase activity Inferred from mutant phenotype. Source: MGI positive regulation of adenylate cyclase activity Inferred from sequence or structural similarity. Source: HGNC positive regulation of neuron apoptosis Inferred from sequence or structural similarity. Source: HGNC regulation of angiogenesis Inferred from mutant phenotype. Source: HGNC regulation of blood vessel endothelial cell migration Inferred from mutant phenotype. Source: HGNC regulation of bone resorption Inferred from sequence or structural similarity. Source: HGNC regulation of cell-matrix adhesion Inferred from sequence or structural similarity. Source: HGNC response to hypoxia Inferred from sequence or structural similarity. Source: HGNC smooth muscle tissue development Inferred from sequence or structural similarity. Source: HGNC spinal cord development Inferred from sequence or structural similarity. Source: HGNC sympathetic nervous system development Inferred from sequence or structural similarity. Source: HGNC visual learning Inferred from sequence or structural similarity. Source: HGNC wound healing Inferred from sequence or structural similarity. Source: HGNC
Cellular component	axon Inferred from direct assay. Source: HGNC cytoplasm Inferred from sequence or structural similarity. Source: HGNC dendrite Inferred from direct assay. Source: HGNC nucleus Inferred from sequence or structural similarity. Source: HGNC
Molecular function	Ras GTPase activator activity Ref.28 Inferred from direct assay. Source: HGNC protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
SDC2	P34741	2	EBI-1172917,EBI-1172957

Alternative products

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

Note: Experimental confirmation may be lacking for some isoforms.

Isoform 2 (identifier: P21359-1)

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: P21359-2)

Also known as: Type I;

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

Isoform 3 (identifier: P21359-3)

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

Isoform 4 (identifier: P21359-4)

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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

1

Removed By similarity

Chain

2 – 2839

2838

Neurofibromin

PRO_0000010773

Chain

2 – 1305

1304

Neurofibromin truncated

PRO_0000010774

Regions

Domain

1235 – 1451

217

Ras-GAP

Domain

1580 – 1738

159

CRAL-TRIO

Compositional bias

1352 – 1355

4

Poly-Ser

Amino acid modifications

Modified residue

2

1

N-acetylalanine By similarity

Modified residue

864

1

Phosphoserine Ref.20 Ref.26

Modified residue

2188

1

Phosphoserine Ref.26 Ref.22 Ref.25

Modified residue

2476

1

Phosphotyrosine Ref.23

Modified residue

2496

1

Phosphoserine Ref.25

Modified residue

2514

1

Phosphothreonine By similarity

Modified residue

2515

1

Phosphoserine Ref.20 Ref.26 Ref.24

Modified residue

2521

1

Phosphoserine Ref.26

Modified residue

2543

1

Phosphoserine Ref.26 Ref.25

Modified residue

2577

1

Phosphotyrosine By similarity

Modified residue

2829

1

Phosphoserine Ref.21

Natural variations

Alternative sequence

548 – 551

4

ALLV → VRGK in isoform 3.

VSP_001629

Alternative sequence

552 – 2839

2288

Missing in isoform 3.

VSP_001630

Alternative sequence

1371 – 1391

21

Missing in isoform 1.

VSP_001628

Alternative sequence

1591 – 1598

8

SIFYQAGT → TPPPEPET in isoform 4.

VSP_001631

Alternative sequence

1599 – 2839

1241

Missing in isoform 4.

VSP_001632

Natural variant

31

1

H → R in NF1. Ref.58

VAR_032459

Natural variant

74

1

A → D in mismatch repair deficient cancer cells. Ref.53

VAR_017550

Natural variant

80

1

Y → C Ref.6

VAR_022254

Natural variant

80

1

Y → S: dbSNP rs4795581. Ref.6

VAR_049135

Natural variant

82

1

S → F in NF1. Ref.51

VAR_021730

Natural variant

93

1

C → Y in NF1. Ref.53

VAR_017551

Natural variant

117

1

I → S in NF1. Ref.46

VAR_010989

Natural variant

145

1

L → P in NF1. Ref.58

VAR_032460

Natural variant

157

1

I → N in NF1. Ref.57

VAR_021731

Natural variant

176

1

D → E in mismatch repair deficient cancer cells; polymorphism. Ref.45 Ref.53 Ref.57 Ref.58

VAR_017552

Natural variant

186

1

D → V in NF1; reduced splicing enhancement. Ref.56

VAR_032461

Natural variant

194

1

L → R in NFNS. Ref.61

VAR_032462

Natural variant

216

1

L → P in NF1. Ref.45

VAR_021732

Natural variant

324

1

C → R in NF1. Ref.58

VAR_032463

Natural variant

337

1

E → V in NF1. Ref.58

VAR_032464

Natural variant

338

1

D → G in NF1. Ref.40

VAR_010990

Natural variant

357

1

L → P in NF1. Ref.45

VAR_021733

Natural variant

489

1

Y → C in NF1. Ref.58

VAR_032465

Natural variant

491

1

Y → C in NF1. Ref.45

VAR_021734

Natural variant

508

1

L → P in NF1. Ref.43

VAR_010991

Natural variant

532

1

L → P in NF1. Ref.58

VAR_032466

Natural variant

549

1

L → P in NF1. Ref.45

VAR_021735

Natural variant

574

1

S → R in NF1. Ref.58

VAR_032467

Natural variant

578

1

L → R in NF1. Ref.55

VAR_021736

Natural variant

581

1

I → T in NF1. Ref.45

VAR_021737

Natural variant

583

1

K → R in NF1. Ref.45

VAR_021738

Natural variant

604

1

L → V in NF1. Ref.53

VAR_017553

Natural variant

629

1

G → R in NF1. Ref.35 Ref.57 Ref.58

VAR_002653

Natural variant

665

1

S → F in NF1; unknown pathological significance. Ref.45 Ref.58

VAR_021739

Natural variant

678

1

P → L: dbSNP rs17881753. Ref.6

VAR_022255

Natural variant

695

1

L → P in NF1. Ref.45

VAR_021740

Natural variant

712

1

H → R in mismatch repair deficient cancer cells. Ref.53

VAR_017554

Natural variant

763

1

L → P in NF1. Ref.45

VAR_021741

Natural variant

765

1

R → H Ref.42

VAR_021742

Natural variant

777

1

W → S in NF1. Ref.45 Ref.57

VAR_021743

Natural variant

780

1

T → K in NF1. Ref.45 Ref.50 Ref.54 Ref.57

VAR_021744

Natural variant

781

1

H → P in NF1. Ref.45

VAR_021745

Natural variant

784

1

W → C in NF1. Ref.50 Ref.51 Ref.57

VAR_021746

Natural variant

784

1

W → R in NF1. Ref.50 Ref.51 Ref.57

VAR_021747

Natural variant

844

1

L → F in NF1. Ref.38 Ref.48 Ref.53 Ref.58 Ref.60

VAR_010992

Natural variant

844

1

L → P in NF1. Ref.38 Ref.48 Ref.53 Ref.58 Ref.60

VAR_032468

Natural variant

844

1

L → R in NF1; sporadic. Ref.38 Ref.48 Ref.53 Ref.58 Ref.60

VAR_002654

Natural variant

847

1

L → P in NF1. Ref.45 Ref.54 Ref.57

VAR_021748

Natural variant

848

1

G → E in NF1. Ref.54 Ref.57

VAR_021749

Natural variant

873

1

R → C in NF1. Ref.58

VAR_032469

Natural variant

898

1

L → P in NF1; sporadic. Ref.38 Ref.53

VAR_002655

Natural variant

920

1

L → P in NF1; patient with cafe-au-lait spots; may be a distinct form of NF1. Ref.55

VAR_021750

Natural variant

968

1

M → R in NF1. Ref.54 Ref.57

VAR_021751

Natural variant

991

1

Missing in NF1. Ref.58

VAR_002656

Natural variant

1035

1

M → R in NF1. Ref.36

VAR_002657

Natural variant

1073

1

M → V in NF1. Ref.58

VAR_032470

Natural variant

1147

1

L → P in NF1. Ref.50

VAR_021752

Natural variant

1156

1

N → S in NF1. Ref.45

VAR_021753

Natural variant

1166

1

G → D in NF1. Ref.32

VAR_010993

Natural variant

1187

1

L → I in a colorectal cancer sample; somatic mutation. Ref.62

VAR_035543

Natural variant

1193

1

F → C in NF1. Ref.50

VAR_021754

Natural variant

1196

1

L → R in NF1. Ref.58

VAR_032471

Natural variant

1204

1

R → G in NF1. Ref.42 Ref.46

VAR_021755

Natural variant

1204

1

R → W in NF1. Ref.42 Ref.46

VAR_010994

Natural variant

1243

1

L → P in NF1; with neurofibromatous neuropathy. Ref.59

VAR_032472

Natural variant

1250

1

R → P in NF1. Ref.45

VAR_021756

Natural variant

1276

1

R → G in NF1. Ref.41 Ref.45 Ref.58

VAR_032473

Natural variant

1276

1

R → P in NF1; complete loss of GAP activity. Ref.41 Ref.45 Ref.58

VAR_010995

Natural variant

1276

1

R → Q in NF1 and mismatch repair deficient cancer cells.

VAR_017555

Natural variant

1412

1

R → S in NF1; significant reduction of GAP activity. Ref.37

VAR_010996

Natural variant

1422

1

Y → H: dbSNP rs17884349. Ref.6

VAR_022256

Natural variant

1430

1

K → E in NF1. Ref.58

VAR_032474

Natural variant

1440

1

K → Q in NF1. Ref.32 Ref.37

VAR_010997

Natural variant

1440

1

K → R in NF1. Ref.32 Ref.37

VAR_002658

Natural variant

1444

1

K → E in NF1 and NFNS; significant reduction of intrinsic GAP activity.

VAR_002659

Natural variant

1444

1

K → N in NF1. Ref.37 Ref.50 Ref.51 Ref.54 Ref.57

VAR_021757

Natural variant

1444

1

K → R in NF1. Ref.37 Ref.50 Ref.51 Ref.54 Ref.57

VAR_021758

Natural variant

1446

1

L → P in NF1. Ref.44 Ref.45 Ref.46

VAR_008129

Natural variant

1451

1

N → T in NFNS. Ref.61

VAR_032475

Natural variant

1453

1

V → L in NFNS. Ref.61

VAR_032476

Natural variant

1459

1

Missing in NFNS. Ref.52 Ref.61

VAR_032477

Natural variant

1489

1

S → G in NF1. Ref.37 Ref.58

VAR_010998

Natural variant

1605

1

I → V in NF1. Ref.45

VAR_021759

Natural variant

1611

1

R → W in NF1. Ref.40

VAR_002660

Natural variant

1733

1

L → LGHEQQKLPAATLAL in NF1.

VAR_002661

Natural variant

1785

1

A → S in NF1. Ref.50

VAR_021760

Natural variant

1951

1

P → L in a colorectal cancer sample; somatic mutation. Ref.62

VAR_035544

Natural variant

1952

1

W → R in NF1. Ref.39

VAR_002662

Natural variant

1953

1

L → P in NF1. Ref.7 Ref.54 Ref.57

VAR_002663

Natural variant

1953

1

Missing in NF1. Ref.7 Ref.54 Ref.57

VAR_021761

Natural variant

2001

1

G → R in NF1. Ref.54 Ref.57

VAR_021762

Natural variant

2012

1

D → N in NF1. Ref.50

VAR_021763

Natural variant

2088

1

L → P in spinal NF; null mutation; 50% reduction of protein level; no cafe-au-lait macules. Ref.49

VAR_017669

Natural variant

2164

1

L → M in NF1. Ref.29

VAR_002664

Natural variant

2192

1

Y → N in NF1. Ref.29

VAR_002665

Natural variant

2221

1

P → A in NF1. Ref.55

VAR_021764

Natural variant

2357

1

E → K in NF1. Ref.50

VAR_021765

Natural variant

2387 – 2388

2

Missing in NF1.

VAR_002666

Natural variant

2507

1

T → I in NF1. Ref.45

VAR_021766

Natural variant

2511

1

V → L Ref.6

VAR_022257

Natural variant

2631

1

T → A in NF1. Ref.34

VAR_002667

Natural variant

2745

1

G → R in a breast cancer sample; somatic mutation. Ref.62

VAR_035545

Experimental info

Sequence conflict

496

1

M → I Ref.7

Sequence conflict

496

1

M → I Ref.8

Sequence conflict

1576

1

H → HH Ref.7

Sequence conflict

1576

1

H → HH Ref.8

Sequence conflict

2792

1

P → PASLPCSNSAVFMQLFPHQ Ref.7

Sequence conflict

2792

1

P → PASLPCSNSAVFMQLFPHQ Ref.8

Secondary structure

1

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2839

Helix Strand Turn

Details...

Helix

1208 – 1216

9

Helix

1224 – 1228

5

Helix

1233 – 1235

3

Helix

1236 – 1248

13

Turn

1249 – 1251

3

Helix

1253 – 1263

11

Beta strand

1266 – 1270

5

Helix

1282 – 1293

12

Helix

1296 – 1299

4

Beta strand

1300 – 1302

3

Turn

1335 – 1337

3

Turn

1339 – 1342

4

Helix

1343 – 1352

10

Turn

1353 – 1356

4

Helix

1361 – 1393

33

Turn

1394 – 1396

3

Helix

1402 – 1412

11

Helix

1414 – 1419

6

Helix

1434 – 1440

7

Helix

1442 – 1451

10

Helix

1462 – 1464

3

Helix

1465 – 1470

6

Helix

1472 – 1481

10

Helix

1510 – 1514

5

Helix

1517 – 1520

4

Helix

1535 – 1544

10

Turn

1582 – 1584

3

Helix

1585 – 1590

6

Beta strand

1592 – 1599

8

Beta strand

1604 – 1609

6

Helix

1610 – 1612

3

Turn

1615 – 1617

3

Helix

1620 – 1631

12

Turn

1632 – 1636

5

Beta strand

1639 – 1644

6

Helix

1650 – 1652

3

Helix

1656 – 1661

6

Turn

1662 – 1664

3

Helix

1668 – 1672

5

Beta strand

1674 – 1681

8

Helix

1684 – 1692

9

Helix

1694 – 1697

4

Helix

1698 – 1700

3

Beta strand

1706 – 1709

4

Helix

1712 – 1716

5

Helix

1720 – 1722

3

Helix

1728 – 1732

5

Beta strand

1738 – 1745

8

Beta strand

1747 – 1749

3

Beta strand

1751 – 1757

7

Beta strand

1759 – 1768

10

Beta strand

1770 – 1772

3

Beta strand

1775 – 1777

3

Beta strand

1780 – 1784

5

Helix

1785 – 1787

3

Beta strand

1788 – 1795

8

Beta strand

1798 – 1803

6

Beta strand

1810 – 1813

4

Helix

1817 – 1832

16

Sequences

	Sequence		Length	Mass (Da)
	Isoform 2 (Type II) [UniParc]. Last modified June 1, 1994. Version 2. Checksum: C079475139DBD51E	FASTA	2,839	319,372
	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 ENNMNKKLFL 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 YLLLSMVKLI HADPKLLLCN PRKQGPETQG STAELITGLV QLVPQSHMPE 550 560 570 580 590 600 IAQEAMEALL VLHQLDSIDL WNPDAPVETF WEISSQMLFY ICKKLTSHQM LSSTEILKWL 610 620 630 640 650 660 REILICRNKF LLKNKQADRS SCHFLLFYGV GCDIPSSGNT SQMSMDHEEL LRTPGASLRK 670 680 690 700 710 720 GKGNSSMDSA AGCSGTPPIC RQAQTKLEVA LYMFLWNPDT EAVLVAMSCF RHLCEEADIR 730 740 750 760 770 780 CGVDEVSVHN LLPNYNTFME FASVSNMMST GRAALQKRVM ALLRRIEHPT AGNTEAWEDT 790 800 810 820 830 840 HAKWEQATKL ILNYPKAKME DGQAAESLHK TIVKRRMSHV SGGGSIDLSD TDSLQEWINM 850 860 870 880 890 900 TGFLCALGGV CLQQRSNSGL ATYSPPMGPV SERKGSMISV MSSEGNADTP VSKFMDRLLS 910 920 930 940 950 960 LMVCNHEKVG LQIRTNVKDL VGLELSPALY PMLFNKLKNT ISKFFDSQGQ VLLTDTNTQF 970 980 990 1000 1010 1020 VEQTIAIMKN LLDNHTEGSS EHLGQASIET MMLNLVRYVR VLGNMVHAIQ IKTKLCQLVE 1030 1040 1050 1060 1070 1080 VMMARRDDLS FCQEMKFRNK MVEYLTDWVM GTSNQAADDD VKCLTRDLDQ ASMEAVVSLL 1090 1100 1110 1120 1130 1140 AGLPLQPEEG DGVELMEAKS QLFLKYFTLF MNLLNDCSEV EDESAQTGGR KRGMSRRLAS 1150 1160 1170 1180 1190 1200 LRHCTVLAMS NLLNANVDSG LMHSIGLGYH KDLQTRATFM EVLTKILQQG TEFDTLAETV 1210 1220 1230 1240 1250 1260 LADRFERLVE LVTMMGDQGE LPIAMALANV VPCSQWDELA RVLVTLFDSR HLLYQLLWNM 1270 1280 1290 1300 1310 1320 FSKEVELADS MQTLFRGNSL ASKIMTFCFK VYGATYLQKL LDPLLRIVIT SSDWQHVSFE 1330 1340 1350 1360 1370 1380 VDPTRLEPSE SLEENQRNLL QMTEKFFHAI ISSSSEFPPQ LRSVCHCLYQ ATCHSLLNKA 1390 1400 1410 1420 1430 1440 TVKEKKENKK SVVSQRFPQN SIGAVGSAMF LRFINPAIVS PYEAGILDKK PPPRIERGLK 1450 1460 1470 1480 1490 1500 LMSKILQSIA NHVLFTKEEH MRPFNDFVKS NFDAARRFFL DIASDCPTSD AVNHSLSFIS 1510 1520 1530 1540 1550 1560 DGNVLALHRL LWNNQEKIGQ YLSSNRDHKA VGRRPFDKMA TLLAYLGPPE HKPVADTHWS 1570 1580 1590 1600 1610 1620 SLNLTSSKFE EFMTRHQVHE KEEFKALKTL SIFYQAGTSK AGNPIFYYVA RRFKTGQING 1630 1640 1650 1660 1670 1680 DLLIYHVLLT LKPYYAKPYE IVVDLTHTGP SNRFKTDFLS KWFVVFPGFA YDNVSAVYIY 1690 1700 1710 1720 1730 1740 NCNSWVREYT KYHERLLTGL KGSKRLVFID CPGKLAEHIE HEQQKLPAAT LALEEDLKVF 1750 1760 1770 1780 1790 1800 HNALKLAHKD TKVSIKVGST AVQVTSAERT KVLGQSVFLN DIYYASEIEE ICLVDENQFT 1810 1820 1830 1840 1850 1860 LTIANQGTPL TFMHQECEAI VQSIIHIRTR WELSQPDSIP QHTKIRPKDV PGTLLNIALL 1870 1880 1890 1900 1910 1920 NLGSSDPSLR SAAYNLLCAL TCTFNLKIEG QLLETSGLCI PANNTLFIVS ISKTLAANEP 1930 1940 1950 1960 1970 1980 HLTLEFLEEC ISGFSKSSIE LKHLCLEYMT PWLSNLVRFC KHNDDAKRQR VTAILDKLIT 1990 2000 2010 2020 2030 2040 MTINEKQMYP SIQAKIWGSL GQITDLLDVV LDSFIKTSAT GGLGSIKAEV MADTAVALAS 2050 2060 2070 2080 2090 2100 GNVKLVSSKV IGRMCKIIDK TCLSPTPTLE QHLMWDDIAI LARYMLMLSF NNSLDVAAHL 2110 2120 2130 2140 2150 2160 PYLFHVVTFL VATGPLSLRA STHGLVINII HSLCTCSQLH FSEETKQVLR LSLTEFSLPK 2170 2180 2190 2200 2210 2220 FYLLFGISKV KSAAVIAFRS SYRDRSFSPG SYERETFALT SLETVTEALL EIMEACMRDI 2230 2240 2250 2260 2270 2280 PTCKWLDQWT ELAQRFAFQY NPSLQPRALV VFGCISKRVS HGQIKQIIRI LSKALESCLK 2290 2300 2310 2320 2330 2340 GPDTYNSQVL IEATVIALTK LQPLLNKDSP LHKALFWVAV AVLQLDEVNL YSAGTALLEQ 2350 2360 2370 2380 2390 2400 NLHTLDSLRI FNDKSPEEVF MAIRNPLEWH CKQMDHFVGL NFNSNFNFAL VGHLLKGYRH 2410 2420 2430 2440 2450 2460 PSPAIVARTV RILHTLLTLV NKHRNCDKFE VNTQSVAYLA ALLTVSEEVR SRCSLKHRKS 2470 2480 2490 2500 2510 2520 LLLTDISMEN VPMDTYPIHH GDPSYRTLKE TQPWSSPKGS EGYLAATYPT VGQTSPRARK 2530 2540 2550 2560 2570 2580 SMSLDMGQPS QANTKKLLGT RKSFDHLISD TKAPKRQEME SGITTPPKMR RVAETDYEME 2590 2600 2610 2620 2630 2640 TQRISSSQQH PHLRKVSVSE SNVLLDEEVL TDPKIQALLL TVLATLVKYT TDEFDQRILY 2650 2660 2670 2680 2690 2700 EYLAEASVVF PKVFPVVHNL LDSKINTLLS LCQDPNLLNP IHGIVQSVVY HEESPPQYQT 2710 2720 2730 2740 2750 2760 SYLQSFGFNG LWRFAGPFSK QTQIPDYAEL IVKFLDALID TYLPGIDEET SEESLLTPTS 2770 2780 2790 2800 2810 2820 PYPPALQSQL SITANLNLSN SMTSLATSQH SPGIDKENVE LSPTTGHCNS GRTRHGSASQ 2830 VQKQRSAGSF KRNSIKKIV
	Isoform 1 (Type I). Checksum: 7E5B89158317C56C	FASTA	2,818	317,033
	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 ENNMNKKLFL 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 YLLLSMVKLI HADPKLLLCN PRKQGPETQG STAELITGLV QLVPQSHMPE 550 560 570 580 590 600 IAQEAMEALL VLHQLDSIDL WNPDAPVETF WEISSQMLFY ICKKLTSHQM LSSTEILKWL 610 620 630 640 650 660 REILICRNKF LLKNKQADRS SCHFLLFYGV GCDIPSSGNT SQMSMDHEEL LRTPGASLRK 670 680 690 700 710 720 GKGNSSMDSA AGCSGTPPIC RQAQTKLEVA LYMFLWNPDT EAVLVAMSCF RHLCEEADIR 730 740 750 760 770 780 CGVDEVSVHN LLPNYNTFME FASVSNMMST GRAALQKRVM ALLRRIEHPT AGNTEAWEDT 790 800 810 820 830 840 HAKWEQATKL ILNYPKAKME DGQAAESLHK TIVKRRMSHV SGGGSIDLSD TDSLQEWINM 850 860 870 880 890 900 TGFLCALGGV CLQQRSNSGL ATYSPPMGPV SERKGSMISV MSSEGNADTP VSKFMDRLLS 910 920 930 940 950 960 LMVCNHEKVG LQIRTNVKDL VGLELSPALY PMLFNKLKNT ISKFFDSQGQ VLLTDTNTQF 970 980 990 1000 1010 1020 VEQTIAIMKN LLDNHTEGSS EHLGQASIET MMLNLVRYVR VLGNMVHAIQ IKTKLCQLVE 1030 1040 1050 1060 1070 1080 VMMARRDDLS FCQEMKFRNK MVEYLTDWVM GTSNQAADDD VKCLTRDLDQ ASMEAVVSLL 1090 1100 1110 1120 1130 1140 AGLPLQPEEG DGVELMEAKS QLFLKYFTLF MNLLNDCSEV EDESAQTGGR KRGMSRRLAS 1150 1160 1170 1180 1190 1200 LRHCTVLAMS NLLNANVDSG LMHSIGLGYH KDLQTRATFM EVLTKILQQG TEFDTLAETV 1210 1220 1230 1240 1250 1260 LADRFERLVE LVTMMGDQGE LPIAMALANV VPCSQWDELA RVLVTLFDSR HLLYQLLWNM 1270 1280 1290 1300 1310 1320 FSKEVELADS MQTLFRGNSL ASKIMTFCFK VYGATYLQKL LDPLLRIVIT SSDWQHVSFE 1330 1340 1350 1360 1370 1380 VDPTRLEPSE SLEENQRNLL QMTEKFFHAI ISSSSEFPPQ LRSVCHCLYQ VVSQRFPQNS 1390 1400 1410 1420 1430 1440 IGAVGSAMFL RFINPAIVSP YEAGILDKKP PPRIERGLKL MSKILQSIAN HVLFTKEEHM 1450 1460 1470 1480 1490 1500 RPFNDFVKSN FDAARRFFLD IASDCPTSDA VNHSLSFISD GNVLALHRLL WNNQEKIGQY 1510 1520 1530 1540 1550 1560 LSSNRDHKAV GRRPFDKMAT LLAYLGPPEH KPVADTHWSS LNLTSSKFEE FMTRHQVHEK 1570 1580 1590 1600 1610 1620 EEFKALKTLS IFYQAGTSKA GNPIFYYVAR RFKTGQINGD LLIYHVLLTL KPYYAKPYEI 1630 1640 1650 1660 1670 1680 VVDLTHTGPS NRFKTDFLSK WFVVFPGFAY DNVSAVYIYN CNSWVREYTK YHERLLTGLK 1690 1700 1710 1720 1730 1740 GSKRLVFIDC PGKLAEHIEH EQQKLPAATL ALEEDLKVFH NALKLAHKDT KVSIKVGSTA 1750 1760 1770 1780 1790 1800 VQVTSAERTK VLGQSVFLND IYYASEIEEI CLVDENQFTL TIANQGTPLT FMHQECEAIV 1810 1820 1830 1840 1850 1860 QSIIHIRTRW ELSQPDSIPQ HTKIRPKDVP GTLLNIALLN LGSSDPSLRS AAYNLLCALT 1870 1880 1890 1900 1910 1920 CTFNLKIEGQ LLETSGLCIP ANNTLFIVSI SKTLAANEPH LTLEFLEECI SGFSKSSIEL 1930 1940 1950 1960 1970 1980 KHLCLEYMTP WLSNLVRFCK HNDDAKRQRV TAILDKLITM TINEKQMYPS IQAKIWGSLG 1990 2000 2010 2020 2030 2040 QITDLLDVVL DSFIKTSATG GLGSIKAEVM ADTAVALASG NVKLVSSKVI GRMCKIIDKT 2050 2060 2070 2080 2090 2100 CLSPTPTLEQ HLMWDDIAIL ARYMLMLSFN NSLDVAAHLP YLFHVVTFLV ATGPLSLRAS 2110 2120 2130 2140 2150 2160 THGLVINIIH SLCTCSQLHF SEETKQVLRL SLTEFSLPKF YLLFGISKVK SAAVIAFRSS 2170 2180 2190 2200 2210 2220 YRDRSFSPGS YERETFALTS LETVTEALLE IMEACMRDIP TCKWLDQWTE LAQRFAFQYN 2230 2240 2250 2260 2270 2280 PSLQPRALVV FGCISKRVSH GQIKQIIRIL SKALESCLKG PDTYNSQVLI EATVIALTKL 2290 2300 2310 2320 2330 2340 QPLLNKDSPL HKALFWVAVA VLQLDEVNLY SAGTALLEQN LHTLDSLRIF NDKSPEEVFM 2350 2360 2370 2380 2390 2400 AIRNPLEWHC KQMDHFVGLN FNSNFNFALV GHLLKGYRHP SPAIVARTVR ILHTLLTLVN 2410 2420 2430 2440 2450 2460 KHRNCDKFEV NTQSVAYLAA LLTVSEEVRS RCSLKHRKSL LLTDISMENV PMDTYPIHHG 2470 2480 2490 2500 2510 2520 DPSYRTLKET QPWSSPKGSE GYLAATYPTV GQTSPRARKS MSLDMGQPSQ ANTKKLLGTR 2530 2540 2550 2560 2570 2580 KSFDHLISDT KAPKRQEMES GITTPPKMRR VAETDYEMET QRISSSQQHP HLRKVSVSES 2590 2600 2610 2620 2630 2640 NVLLDEEVLT DPKIQALLLT VLATLVKYTT DEFDQRILYE YLAEASVVFP KVFPVVHNLL 2650 2660 2670 2680 2690 2700 DSKINTLLSL CQDPNLLNPI HGIVQSVVYH EESPPQYQTS YLQSFGFNGL WRFAGPFSKQ 2710 2720 2730 2740 2750 2760 TQIPDYAELI VKFLDALIDT YLPGIDEETS EESLLTPTSP YPPALQSQLS ITANLNLSNS 2770 2780 2790 2800 2810 MTSLATSQHS PGIDKENVEL SPTTGHCNSG RTRHGSASQV QKQRSAGSFK RNSIKKIV
	Isoform 3. Checksum: D783EC85BCE926D7	FASTA	551	62,300
	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 ENNMNKKLFL 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 YLLLSMVKLI HADPKLLLCN PRKQGPETQG STAELITGLV QLVPQSHMPE 550 IAQEAMEVRG K
	Isoform 4. Checksum: F76BC6C54FC08C8C	FASTA	1,598	180,213
	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 ENNMNKKLFL 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 YLLLSMVKLI HADPKLLLCN PRKQGPETQG STAELITGLV QLVPQSHMPE 550 560 570 580 590 600 IAQEAMEALL VLHQLDSIDL WNPDAPVETF WEISSQMLFY ICKKLTSHQM LSSTEILKWL 610 620 630 640 650 660 REILICRNKF LLKNKQADRS SCHFLLFYGV GCDIPSSGNT SQMSMDHEEL LRTPGASLRK 670 680 690 700 710 720 GKGNSSMDSA AGCSGTPPIC RQAQTKLEVA LYMFLWNPDT EAVLVAMSCF RHLCEEADIR 730 740 750 760 770 780 CGVDEVSVHN LLPNYNTFME FASVSNMMST GRAALQKRVM ALLRRIEHPT AGNTEAWEDT 790 800 810 820 830 840 HAKWEQATKL ILNYPKAKME DGQAAESLHK TIVKRRMSHV SGGGSIDLSD TDSLQEWINM 850 860 870 880 890 900 TGFLCALGGV CLQQRSNSGL ATYSPPMGPV SERKGSMISV MSSEGNADTP VSKFMDRLLS 910 920 930 940 950 960 LMVCNHEKVG LQIRTNVKDL VGLELSPALY PMLFNKLKNT ISKFFDSQGQ VLLTDTNTQF 970 980 990 1000 1010 1020 VEQTIAIMKN LLDNHTEGSS EHLGQASIET MMLNLVRYVR VLGNMVHAIQ IKTKLCQLVE 1030 1040 1050 1060 1070 1080 VMMARRDDLS FCQEMKFRNK MVEYLTDWVM GTSNQAADDD VKCLTRDLDQ ASMEAVVSLL 1090 1100 1110 1120 1130 1140 AGLPLQPEEG DGVELMEAKS QLFLKYFTLF MNLLNDCSEV EDESAQTGGR KRGMSRRLAS 1150 1160 1170 1180 1190 1200 LRHCTVLAMS NLLNANVDSG LMHSIGLGYH KDLQTRATFM EVLTKILQQG TEFDTLAETV 1210 1220 1230 1240 1250 1260 LADRFERLVE LVTMMGDQGE LPIAMALANV VPCSQWDELA RVLVTLFDSR HLLYQLLWNM 1270 1280 1290 1300 1310 1320 FSKEVELADS MQTLFRGNSL ASKIMTFCFK VYGATYLQKL LDPLLRIVIT SSDWQHVSFE 1330 1340 1350 1360 1370 1380 VDPTRLEPSE SLEENQRNLL QMTEKFFHAI ISSSSEFPPQ LRSVCHCLYQ ATCHSLLNKA 1390 1400 1410 1420 1430 1440 TVKEKKENKK SVVSQRFPQN SIGAVGSAMF LRFINPAIVS PYEAGILDKK PPPRIERGLK 1450 1460 1470 1480 1490 1500 LMSKILQSIA NHVLFTKEEH MRPFNDFVKS NFDAARRFFL DIASDCPTSD AVNHSLSFIS 1510 1520 1530 1540 1550 1560 DGNVLALHRL LWNNQEKIGQ YLSSNRDHKA VGRRPFDKMA TLLAYLGPPE HKPVADTHWS 1570 1580 1590 SLNLTSSKFE EFMTRHQVHE KEEFKALKTL TPPPEPET

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line." Bernards A., Haase V.H., Murthy A.E., Menon A., Hannigan G.E., Gusella J.F. DNA Cell Biol. 11:727-734(1992) [PubMed: 1457041] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[2]	"Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients." Wallace M.R., Marchuk D.A., Andersen L.B., Letcher R., Odeh H.M., Saulino A.M., Fountain J.W., Brereton A., Nicholson J., Mitchell A.L., Brownstein B.H., Collins F.S. Science 249:181-186(1990) [PubMed: 2134734] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	Erratum Wallace M.R., Marchuk D.A., Andersen L.B., Letcher R., Odeh H.M., Saulino A.M., Fountain J.W., Brereton A., Nicholson J., Mitchell A.L., Brownstein B.H., Collins F.S. Science 250:1749-1749(1990) [PubMed: 2125369] [Abstract]
[4]	"cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product." Marchuk D.A., Saulino A.M., Tavakkol R., Swaroop M., Wallace M.R., Andersen L.B., Mitchell A.L., Gutmann D.H., Boguski M.S., Collins F.S. Genomics 11:931-940(1991) [PubMed: 1783401] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[5]	"Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase-activating protein." Suzuki H., Takahashi K., Kubota Y., Shibahara S. Biochem. Biophys. Res. Commun. 187:984-990(1992) [PubMed: 1339276] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[6]	NIEHS SNPs program Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CYS-80; LEU-678; HIS-1422 AND LEU-2511.
[7]	"A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations." Cawthon R.M., Weiss R., Xu G., Viskochil D., Culver M., Stevens J., Robertson M., Dunn D., Gesteland R., O'Connell P., White R. Cell 62:193-201(1990) [PubMed: 2114220] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 335-2839 (ISOFORM 1), VARIANT NF1 PRO-1953.
[8]	"The neurofibromatosis type 1 gene encodes a protein related to GAP." Xu G., O'Connell P., Viskochil D., Cawthon R.M., Robertson M., Culver M., Dunn D., Stevens J., Gesteland R., White R., Weiss R. Cell 62:599-608(1990) [PubMed: 2116237] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 335-2839 (ISOFORM 1).
[9]	"Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition." Regnier V., Meddeb M., Lecointre G., Richard F., Duverger A., Nguyen V.C., Dutrillaux B., Bernheim A., Danglot G. Hum. Mol. Genet. 6:9-16(1997) [PubMed: 9002664] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 707-782.
[10]	"Genomic organization of the neurofibromatosis 1 gene (NF1)." Li Y., O'Connell P., Breidenbach H.H., Cawthon R.M., Stevens J., Xu G., Neil S., Robertson M., White R., Viskochil D. Genomics 25:9-18(1995) [PubMed: 7774960] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 751-1611 (ISOFORMS 1 AND 2).
[11]	"The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21." Martin G.A., Viskochil D., Bollag G., McCabe P.C., Crosier W.J., Haubruck H., Conroy L., Clark R., O'Connell P., Cawthon R.M., Innis M., McCormick F. Cell 63:843-849(1990) [PubMed: 2121370] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1090-1598 (ISOFORM 4).
[12]	"Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation." Nishi T., Lee P.S., Oka K., Levin V.A., Tanase S., Morino Y., Saya H. Oncogene 6:1555-1559(1991) [PubMed: 1923522] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1168-1566 (ISOFORMS 1 AND 2).
[13]	"A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity." Andersen L.B., Ballester R., Marchuk D.A., Chang E., Gutmann D.H., Saulino A.M., Camonis J., Wigler M., Collins F.S. Mol. Cell. Biol. 13:487-495(1993) [PubMed: 8417346] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 1371-1391 (ISOFORM 2).
[14]	"Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain." Suzuki Y., Suzuki H., Kayama T., Yoshimoto T., Shibahara S. Biochem. Biophys. Res. Commun. 181:955-961(1991) [PubMed: 1662505] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1371-1391 (ISOFORM 2).
[15]	"The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins." Ballester R., Marchuk D.A., Boguski M.S., Saulino A.M., Letcher R., Wigler M., Collins F.S. Cell 63:851-859(1990) [PubMed: 2121371] [Abstract] Cited for: FUNCTION.
[16]	"The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing." Skuse G.R., Cappione A.J., Sowden M., Metheny L.J., Smith H.C. Nucleic Acids Res. 24:478-485(1996) [PubMed: 8602361] [Abstract] Cited for: RNA EDITING.
[17]	"C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme." Mukhopadhyay D., Anant S., Lee R.M., Kennedy S., Viskochil D., Davidson N.O. Am. J. Hum. Genet. 70:38-50(2002) [PubMed: 11727199] [Abstract] Cited for: RNA EDITING.
[18]	"Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene." Upadhyaya M., Shaw D.J., Harper P.S. Hum. Mutat. 4:83-101(1994) [PubMed: 7981724] [Abstract] Cited for: REVIEW ON VARIANTS.
[19]	"Molecular genetics of neurofibromatosis type 1 (NF1)." Shen M.H., Harper P.S., Upadhyaya M. J. Med. Genet. 33:2-17(1996) [PubMed: 8825042] [Abstract] Cited for: REVIEW ON VARIANTS.
[20]	"Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-864 AND SER-2515, MASS SPECTROMETRY. Tissue: Epithelium.
[21]	"Global phosphoproteome of HT-29 human colon adenocarcinoma cells." Kim J.-E., Tannenbaum S.R., White F.M. J. Proteome Res. 4:1339-1346(2005) [PubMed: 16083285] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2829, MASS SPECTROMETRY.
[22]	"Phosphoproteome analysis of the human mitotic spindle." Nousiainen M., Sillje H.H.W., Sauer G., Nigg E.A., Koerner R. Proc. Natl. Acad. Sci. U.S.A. 103:5391-5396(2006) [PubMed: 16565220] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2188, MASS SPECTROMETRY. Tissue: Epithelium.
[23]	"Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer." Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., Mitchell J., Wetzel R., Macneill J., Ren J.M. , Yuan J., Bakalarski C.E., Villen J., Kornhauser J.M., Smith B., Li D., Zhou X., Gygi S.P., Gu T.-L., Polakiewicz R.D., Rush J., Comb M.J. Cell 131:1190-1203(2007) [PubMed: 18083107] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-2476, MASS SPECTROMETRY.
[24]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2515, MASS SPECTROMETRY.
[25]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2188; SER-2496 AND SER-2543, MASS SPECTROMETRY.
[26]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-864; SER-2188; SER-2515; SER-2521 AND SER-2543, MASS SPECTROMETRY.
[27]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[28]	"Somatic mutations in the neurofibromatosis 1 gene in human tumors." Li Y., Bollag G., Clark R., Stevens J., Conroy L., Fults D., Ward K., Friedman E., Samowitz W., Robertson M., Bradley P., McCormick F., White R., Cawthon R.M. Cell 69:275-281(1992) [PubMed: 1568247] [Abstract] Cited for: VARIANT GLU-1444.
[29]	"Analysis of mutations at the neurofibromatosis 1 (NF1) locus." Upadhyaya M., Shen M.H., Cherryson A., Farnham J., Maynard J., Huson S.M., Harper P.S. Hum. Mol. Genet. 1:735-740(1992) [PubMed: 1302608] [Abstract] Cited for: VARIANTS NF1 MET-2164 AND ASN-2192.
[30]	"Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome." Tassabehji M., Strachan T., Sharland M., Colley A., Donnai D., Harris R., Thakker N. Am. J. Hum. Genet. 53:90-95(1993) [PubMed: 8317503] [Abstract] Cited for: VARIANT GLY-HIS-GLU-GLN-GLN-LYS-LEU-PRO-ALA-ALA-THR-LEU-ALA-LEU-1733 INS.
[31]	"Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels." Shen M.H., Harper P.S., Upadhyaya M. Hum. Mol. Genet. 2:1861-1864(1993) [PubMed: 7904209] [Abstract] Cited for: VARIANT MET-991 DEL.
[32]	"Characterisation of inherited and sporadic mutations in neurofibromatosis type-1." Purandare S.M., Lanyon W.G., Connor J.M. Hum. Mol. Genet. 3:1109-1115(1994) [PubMed: 7981679] [Abstract] Cited for: VARIANTS NF1 ASP-1166 AND ARG-1440.
[33]	"Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene." Abernathy C.R., Colman S.D., Kousseff B.G., Wallace M.R. Hum. Mutat. 3:347-352(1994) [PubMed: 8081387] [Abstract] Cited for: VARIANT NF1 2387-ASN-PHE-2388 DEL.
[34]	"Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene." Upadhyaya M., Maynard J., Osborn M.J., Huson S.M., Ponder M., Ponder B.A.J., Harper P.S. J. Med. Genet. 32:706-710(1995) [PubMed: 8544190] [Abstract] Cited for: VARIANT NF1 ALA-2631.
[35]	"Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms." Gasparini P., D'Agruma L., de Cillis G.P., Balestrazzi P., Mingarelli R., Zelante L. Hum. Genet. 97:492-495(1996) [PubMed: 8834249] [Abstract] Cited for: VARIANT NF1 ARG-629.
[36]	"Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome." Wu R., Legius E., Robberecht W., Dumoulin M., Cassiman J.-J., Fryns J.-P. Hum. Mutat. 8:51-56(1996) [PubMed: 8807336] [Abstract] Cited for: VARIANT NF1 ARG-1035.
[37]	"Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene." Upadhyaya M., Osborn M.J., Maynard J., Kim M.R., Tamanoi F., Cooper D.N. Hum. Genet. 99:88-92(1997) [PubMed: 9003501] [Abstract] Cited for: VARIANTS NF1 SER-1412; GLN-1440; GLU-1444 AND GLY-1489.
[38]	"Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene." Maynard J., Krawczak M., Upadhyaya M. Hum. Genet. 99:674-676(1997) [PubMed: 9150739] [Abstract] Cited for: VARIANTS NF1 ARG-844 AND PRO-898.
[39]	"Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene." Hudson J., Wu C.L., Tassabehji M., Summers E.M., Simon S., Super M., Donnai D., Thakker N. Hum. Mutat. 9:366-367(1997) [PubMed: 9101300] [Abstract] Cited for: VARIANT NF1 ARG-1952.
[40]	"Six novel mutations in the neurofibromatosis type 1 (NF1) gene." Upadhyaya M., Maynard J., Osborn M.J., Harper P.S. Hum. Mutat. 10:248-250(1997) [PubMed: 9298829] [Abstract] Cited for: VARIANTS NF1 GLY-338 AND TRP-1611.
[41]	"Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1)." Klose A., Ahmadian M.R., Schuelke M., Scheffzek K., Hoffmeyer S., Gewies A., Schmitz F., Kaufmann D., Peters H., Wittinghofer A., Nuernberg P. Hum. Mol. Genet. 7:1261-1268(1998) [PubMed: 9668168] [Abstract] Cited for: VARIANT NF1 PRO-1276.
[42]	"Analysis of CpG C-to-T mutations in neurofibromatosis type 1." Krkljus S., Abernathy C.R., Johnson J.S., Williams C.A., Driscoll D.J., Zori R., Stalker H.J., Rasmussen S.A., Collins F.S., Kousseff B.G., Baumbach L., Wallace M.R. Hum. Mutat. 11:411-411(1998) [PubMed: 10336779] [Abstract] Cited for: VARIANT NF1 GLY-1204, VARIANT HIS-765.
[43]	"Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing." Messiaen L.M., Callens T., Roux K.J., Mortier G.R., De Paepe A., Abramowicz M., Pericak-Vance M.A., Vance J.M., Wallace M.R. Genet. Med. 1:248-253(1999) [PubMed: 11258625] [Abstract] Cited for: VARIANT NF1 PRO-508.
[44]	"A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE)." Peters H., Hess D., Fahsold R., Schuelke M. Hum. Mutat. 13:337-337(1999) [PubMed: 10220149] [Abstract] Cited for: VARIANT NF1 PRO-1446.
[45]	"Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain." Fahsold R., Hoffmeyer S., Mischung C., Gille C., Ehlers C., Kuecuekceylan N., Abdel-Nour M., Gewies A., Peters H., Kaufmann D., Buske A., Tinschert S., Nuernberg P. Am. J. Hum. Genet. 66:790-818(2000) [PubMed: 10712197] [Abstract] Cited for: VARIANTS NF1 PRO-216; PRO-357; CYS-491; PRO-549; THR-581; ARG-583; PHE-665; PRO-695; PRO-763; SER-777; LYS-780; PRO-781; PRO-847; SER-1156; PRO-1250; GLN-1276; PRO-1276; PRO-1446; VAL-1605 AND ILE-2507, VARIANT GLU-176.
[46]	"Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1." Ars E., Serra E., Garcia J., Kruyer H., Gaona A., Lazaro C., Estivill X. Hum. Mol. Genet. 9:237-247(2000) [PubMed: 10607834] [Abstract] Cited for: VARIANTS NF1 SER-117; TRP-1204; PRO-1446 AND 2387-ASN-PHE-2388 DEL.
[47]	Erratum Ars E., Serra E., Garcia J., Kruyer H., Gaona A., Lazaro C., Estivill X. Hum. Mol. Genet. 9:659-659(2000)
[48]	"NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1." Boulandet E.G., Pantel J., Cazeneuve C., Van Gijn M., Vidaud D., Lemay S., Martin J., Zeller J., Revuz J., Goossens M., Amselem S., Wolkenstein P. Hum. Mutat. 16:274-275(2000) [PubMed: 10980545] [Abstract] Cited for: VARIANT NF1 PHE-844.
[49]	"Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene." Kaufmann D., Mueller R., Bartelt B., Wolf M., Kunzi-Rapp K., Hanemann C.O., Fahsold R., Hein C., Vogel W., Assum G. Am. J. Hum. Genet. 69:1395-1400(2001) [PubMed: 11704931] [Abstract] Cited for: VARIANT SPINAL NF PRO-2088.
[50]	"Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene." Han S.S., Cooper D.N., Upadhyaya M.N. Hum. Genet. 109:487-497(2001) [PubMed: 11735023] [Abstract] Cited for: VARIANTS NF1 LYS-780; CYS-784; PRO-1147; CYS-1193; ARG-1444; SER-1785; ASN-2012 AND LYS-2357.
[51]	"NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas." Kluwe L., Friedrich R.E., Korf B., Fahsold R., Mautner V.-F. Hum. Mutat. 19:309-309(2002) [PubMed: 11857752] [Abstract] Cited for: VARIANTS NF1 PHE-82; ARG-784 AND GLU-1444.
[52]	"Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS)." Baralle D., Mattocks C., Kalidas K., Elmslie F., Whittaker J., Lees M., Ragge N., Patton M.A., Winter R.M., ffrench-Constant C. Am. J. Med. Genet. A 119:1-8(2003) [PubMed: 12707950] [Abstract] Cited for: VARIANT NFNS GLU-1459 DEL.
[53]	"Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type." Wang Q., Montmain G., Ruano E., Upadhyaya M., Dudley S., Liskay R.M., Thibodeau S.N., Puisieux A. Hum. Genet. 112:117-123(2003) [PubMed: 12522551] [Abstract] Cited for: VARIANTS NF1 TYR-93; VAL-604; ARG-844 AND PRO-898, VARIANTS ASP-74; GLU-176; ARG-712 AND GLN-1276.
[54]	"NF1 gene analysis based on DHPLC." De Luca A., Buccino A., Gianni D., Mangino M., Giustini S., Richetta A., Divona L., Calvieri S., Mingarelli R., Dallapiccola B. Hum. Mutat. 21:171-172(2003) [PubMed: 12552569] [Abstract] Cited for: VARIANTS NF1 LYS-780; PRO-847; GLU-848 AND ARG-968; ASN-1444; LEU-1953 DEL AND ARG-2001.
[55]	"NF1 mutations and clinical spectrum in patients with spinal neurofibromas." Kluwe L., Tatagiba M., Fuensterer C., Mautner V.F. J. Med. Genet. 40:368-371(2003) [PubMed: 12746402] [Abstract] Cited for: VARIANTS NF1 ARG-578; PRO-920 AND ALA-2221.
[56]	"Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1." Zatkova A., Messiaen L., Vandenbroucke I., Wieser R., Fonatsch C., Krainer A.R., Wimmer K. Hum. Mutat. 24:491-501(2004) [PubMed: 15523642] [Abstract] Cited for: VARIANT NF1 VAL-186, CHARACTERIZATION OF VARIANT NF1 VAL-186.
[57]	"Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1." De Luca A., Schirinzi A., Buccino A., Bottillo I., Sinibaldi L., Torrente I., Ciavarella A., Dottorini T., Porciello R., Giustini S., Calvieri S., Dallapiccola B. Hum. Mutat. 23:629-629(2004) [PubMed: 15146469] [Abstract] Cited for: VARIANTS NF1 ASN-157; ARG-629; SER-777; LYS-780; ARG-784; PRO-847; GLU-848; ARG-968; ASN-1444; LEU-1953 DEL AND ARG-2001, VARIANT GLU-176.
[58]	"Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain." Mattocks C., Baralle D., Tarpey P., ffrench-Constant C., Bobrow M., Whittaker J. J. Med. Genet. 41:E48-E48(2004) [PubMed: 15060124] [Abstract] Cited for: VARIANTS NF1 ARG-31; PRO-145; ARG-324; VAL-337; CYS-489; PRO-532; ARG-574; ARG-629; PHE-665; PHE-844; PRO-844; CYS-873; MET-991 DEL; VAL-1073; ARG-1196; GLY-1276; GLN-1276; GLU-1430; GLU-1459 DEL AND GLY-1489, VARIANT GLU-176.
[59]	"Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)." Ferner R.E., Hughes R.A.C., Hall S.M., Upadhyaya M., Johnson M.R. J. Med. Genet. 41:837-841(2004) [PubMed: 15520408] [Abstract] Cited for: VARIANT NF1 PRO-1243.
[60]	"Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient." Bertola D.R., Pereira A.C., Passetti F., de Oliveira P.S.L., Messiaen L., Gelb B.D., Kim C.A., Krieger J.E. Am. J. Med. Genet. A 136:242-245(2005) [PubMed: 15948193] [Abstract] Cited for: VARIANT NF1 ARG-844.
[61]	"NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome." De Luca A., Bottillo I., Sarkozy A., Carta C., Neri C., Bellacchio E., Schirinzi A., Conti E., Zampino G., Battaglia A., Majore S., Rinaldi M.M., Carella M., Marino B., Pizzuti A., Digilio M.C., Tartaglia M., Dallapiccola B. Am. J. Hum. Genet. 77:1092-1101(2005) [PubMed: 16380919] [Abstract] Cited for: VARIANTS NFNS ARG-194; GLU-1444; THR-1451; LEU-1453 AND GLU-1459 DEL.
[62]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] ILE-1187; LEU-1951 AND ARG-2745.
+	Additional computationally mapped references.

Web resources

NF1 Genetic Mutation Analysis Consortium

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

NIEHS-SNPs

Cross-references

Sequence databases

EMBLGenBankDDBJ

M89914 mRNA. Translation: AAA59925.1.
M82814 mRNA. Translation: AAA59924.1.
M60496 mRNA. Translation: AAA59928.1.
D12625 mRNA. Translation: BAA02150.1.
M38106 mRNA. Translation: AAA74897.1.
M38107 mRNA. Translation: AAB59558.1.
AY796305 Genomic DNA. Translation: AAV50004.1.
M38116 , M38108, M38109, M38110, M38111, M38112, M38113, M38114, M38115 Unassigned DNA. Translation: AAA18483.1.
Y07853 Genomic DNA. Translation: CAA69179.1.
U17690 , U17680, U17681, U17682, U17683, U17684, U17685, U17686, U17687, U17688, U17689 Genomic DNA. Translation: AAB48380.1.
U17690 , U17680, U17681, U17682, U17683, U17684, U17685, U17687, U17688, U17689 Genomic DNA. Translation: AAB48379.1.
U17656 Genomic DNA. Translation: AAB48373.1.
U17659 Genomic DNA. Translation: AAB48374.1.
U17662 Genomic DNA. Translation: AAB48375.1.
U17668, U17667 Genomic DNA. Translation: AAB48376.1.
U17673 Genomic DNA. Translation: AAB48377.1.
U17677, U17676 Genomic DNA. Translation: AAB48378.1.
M60915 mRNA. Translation: AAA59921.1.
M60915 mRNA. Translation: AAA59922.1.
M61213 mRNA. Translation: AAA59923.1. Different initiation.
S51751 mRNA. Translation: AAB24636.1.
D10490 mRNA. Translation: BAA01371.1.

IPI

IPI00220513.
IPI00220514.
IPI00299512.
IPI00304235.

PIR

B55282.
I78852.

RefSeq

NP_000258.1.
NP_001035957.1.

UniGene

Hs.113577

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1NF1	X-ray	2.50	A	1198-1551	[»]
2D4Q	X-ray	2.30	A/B	1581-1837	[»]
2E2X	X-ray	2.50	A/B	1566-1837	[»]

ModBase

Search...

Protein-protein interaction databases

IntAct

P21359. 5 interactions.

PTM databases

PhosphoSite

P21359.

Proteomic databases

PRIDE

P21359.

Genome annotation databases

Ensembl

ENSG00000196712. Homo sapiens. [Contig view]

GeneID

4763.

KEGG

hsa:4763.

Organism-specific databases

GeneCards

GC17P026446.

H-InvDB

HIX0013698.
HIX0039756.
HIX0060036.

HGNC

HGNC:7765. NF1.

HPA

CAB004786.

MIM

114500. phenotype.
162200. gene+phenotype.
162210. phenotype.
193520. phenotype.
601321. phenotype.
607785. phenotype.

Orphanet

638. Neurofibromatosis - Noonan syndrome.
636. Neurofibromatosis type 1.
3444. Watson syndrome.

PharmGKB

PA134903639.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

P21359.

HOVERGEN

P21359.

OMA

P21359. LVLHQLD.

Enzyme and pathway databases

Pathway_Interaction_DB

hnf3bpathway. FOXA2 and FOXA3 transcription factor networks.
syndecan_2_pathway. Syndecan-2-mediated signaling events.

Gene expression databases

ArrayExpress

P21359.

Bgee

P21359.

CleanEx

HS_NF1.

GermOnline

ENSG00000196712. Homo sapiens.

Family and domain databases

InterPro

IPR001251. CRAL_bd_TRIO_C.
IPR001936. RasGAP.
[Graphical view]

Pfam

PF00616. RasGAP. 1 hit.
[Graphical view]

SMART

SM00323. RasGAP. 1 hit.
SM00516. SEC14. 1 hit.
[Graphical view]

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 Resources

NextBio

18348.

SOURCE

Search...

Entry information

Entry name

NF1_HUMAN

Accession

Primary (citable) accession number: P21359
Secondary accession number(s): O00662 , Q14284, Q14930, Q9UMK3

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 1, 1991
Last sequence update:	June 1, 1994
Last modified:	June 16, 2009
This is version 119 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)