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NF1 Gene

protein-coding GIFtS: 72

GC17P026446

neurofibromin 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
DKFZp686J1293 ^²
FLJ21220 ^²
NFNS ^², ⁵
VRNF ^², ⁵
WSS ^², ⁵
neurofibromin ^²

Descriptions
Neurofibromatosis-related protein NF-1 ^³
neurofibromin 1 ^²

External Ids
HGNC: 7765¹
Entrez Gene: 4763²
UniProtKB: P21359³
Ensembl: ENSG00000196712⁷

Search outside databases for aliases for NF1 gene

Previous GC identifers: GC17M029610 GC17P031329 GC17P029271 GC17P029567

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for NF1:

This gene product appears to function as a negative regulator of the ras signal transduction

pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile

myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing

(CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced

transcript variants encoding different isoforms have also been described for this gene. [provided

by RefSeq]

UniProtKB/Swiss-Prot: NF1_HUMAN, P21359

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

Gene Wiki entry for NF1 (Neurofibromin_1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the NF1 gene

Entrez Gene cytogenetic band: 17q11.2 Ensembl cytogenetic band: 17q11.2 HGNC cytogenetic band: 17q11.2

NF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P026446: (about GC identifiers)

Start:	26,446,121 bp from pter
End:	26,728,821 bp from pter
Size:	282,701 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000017.9 NT_010799.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: NF1_HUMAN, P21359 (See protein sequence)

Recommended Name: Neurofibromin

Size: 2839 amino acids; 319372 Da

Rna editing: Modified_positions=1306; Note=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

Caution: Was originally (PubMed:8807336) thought to be associated with LEOPARD (LS), an autosomal

dominant syndrome

PDB structures from and Proteopedia :

1NF1 (3D)

2D4Q (3D)

2E2X (3D)

Secondary accessions: O00662 Q14284 Q14930 Q9UMK3

Alternative splicing: 4 isoforms: P21359-1 P21359-2 P21359-3 P21359-4 (Experimental confirmation may be lacking for some isoforms)

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_000258.1 NP_001035957.1 NP_001121619.1

ENSEMBL proteins:

ENSP00000351015 ENSP00000348498

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Neurofibromin)
	Human Recombinant Proteins from Abnova (NF1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005634	nucleus	ISS	1550670
GO:0005737	cytoplasm	ISS	1550670
GO:0030424	axon	IDA	1550670
GO:0030425	dendrite	IDA	1550670

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Antibodies for NF1:

	Invitrogen Antibodies for NF1
	Millipore Mono- and Polyclonal Antibodies for the study of NF1
	Sigma-Aldrich Antibodies for NF1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Neurofibromin), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (NF1)
	Novus Biologicals Antibodies for NF1

Assays for NF1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P21359

ProtoNet protein and cluster: P21359

2 Blocks protein families:

IPB001251 Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)

IPB001936 Ras GTPase-activating protein

UniProtKB/Swiss-Prot: NF1_HUMAN, P21359

Similarity: Contains 1 CRAL-TRIO domain

Similarity: Contains 1 Ras-GAP domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (NF1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (NF1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000267

Applied Biosystems Silencer® siRNAs for NF1

Sigma-Aldrich siRNA and siRNA Panels for NF1

Sigma-Aldrich shRNA Panels and shRNA for NF1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000267
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000267
untagged cDNA clones in CMV expression vector (see all 3): NM_000267

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001042492

UniProtKB/Swiss-Prot: NF1_HUMAN, P21359

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

Genatlas biochemistry entry for NF1:

neurofibromin,Ras GTPase activating protein related (280kDa),signal transduction),with at least

four alternatively spliced transcripts,with a developmental and tissue specific regulation of

expression,also a mRNA editing site in exon 23 creating an in-frame codon stop,putatively involved

in suppression of NF1 tumor and in juvenile myelomonocytic leukemia

15/24 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Nf1) (see all 24 ):

	behavior/neurological	craniofacial	embryogenesis	endocrine/exocrine gland
growth/size	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system
lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail	liver/biliary system

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005099	Ras GTPase activator activity	IDA	1568247 1570015
GO:0005515	protein binding	IPI	11356864

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for NF1 (Your Favorite Gene powered by Ingenuity)

Molecular Mechanisms of Cancer

GeneDecks NF1 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for NF1

5/100 Interacting proteins for NF1 (P21359^{1, 2} ENSP00000351015³) via UniProtKB, MINT, and/or STRING (see all 100 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SDC2	P34741¹, ENSP00000307046³	EBI-1172917, EBI-1172957 STRING (score=.986)
SUMO1	P63165²	MINT-3380416
SUMO1P3	P63165²	MINT-3380416
HRAS	ENSP00000373382³	STRING (score=.997)
NF2	ENSP00000335652³	STRING (score=.993)

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5/43 Gene Ontology (GO) biological process terms (links to tree view) (see all 43 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001649	osteoblast differentiation	ISS	--
GO:0001656	metanephros development	ISS	--
GO:0001666	response to hypoxia	ISS	--
GO:0001889	liver development	ISS	--
GO:0001937	negative regulation of endothelial cell proliferation	IMP	17404841

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for NF1
10/21 Novoseek chemical compound relationships for NF1 gene (see all 21 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
mantgtp	63.45	1	12667087 (1)
gtp	58.76	34	8262937 (2), 12667087 (2), 8626511 (2), 8437847 (2) (see all 21)
gdp	40.21	9	8437847 (2), 8658179 (1), 10555980 (1), 12667087 (1) (see all 5)
guanosine	36.29	10	1496380 (1), 8658179 (1), 9589427 (1), 8302341 (1) (see all 8)
tyrosine	10.01	9	16914719 (3), 15467451 (1), 17348023 (1), 16467864 (1) (see all 7)
phosphatidylinositol	4.64	2	18271718 (1), 10398103 (1)
progesterone	4.47	1	2373169 (1)
atp	1.68	1	17438209 (1)
calcium	1.61	3	7637322 (1), 14523097 (1), 17609502 (1)
forskolin	0.00	6	7505343 (1), 8847098 (1), 14523097 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (NF1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (NF1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000267

Sigma-Aldrich siRNA and siRNA Panels for NF1

Sigma-Aldrich shRNA Panels and shRNA for NF1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000267 NM_001042492 NM_001128147

REFSEQ mRNAs for NF1 gene (3 alternative transcripts):

NM_000267.2 NM_001042492.1 NM_001128147.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000267 NM_001042492 NM_001128147

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000267
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000267
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_000267

Additional cDNA sequence:

AB209336.1 AF055023.1 AF086346.1 AK026658.1 AK289936.1 AK301970.1 AK302063.1 BC144643.1

BX648717.1 D12625.1 D42072.1 M38106.1 M38107.1 M60496.1 M60915.1 M61213.1

M82814.1 M89914.1

24/25 DOTS entries (see all 25 ):

DT.91768398 DT.100752198 DT.318104 DT.100752196 DT.97799977 DT.65285211 DT.100752195 DT.100664689

DT.91965143 DT.101975503 DT.95286460 DT.97791842 DT.100749793 DT.414179 DT.414180 DT.97771427

DT.120972573 DT.120973050 DT.100739552 DT.100749794 DT.75174633 DT.95286423 DT.75120933 DT.95365109

24/299 AceView cDNA sequences (see all 299 ):

BQ576296 BQ013943 BM504583 CA944986 CA944433 M82814 BQ773049 CB243676

AA749036 AW173779 AI244300 AW470031 BU619171 BM479881 BP350476 AA769233

NM_000267 D10490 AI653317 C20818 AA534609 BU685798 CD244261 BM683129

highest scoring ESTs for NF1:

M89914 AA402274 AI221477 AU145039 AW849178 AW849280 BE766657 BG194188 BG204912 BG219151

Unigene Cluster for NF1:

Neurofibromin 1

Hs.113577 [show with all ESTs]

Unigene Representative Sequence: NM_001042492

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for NF1

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^
SP1:																	-														-
SP2:
SP3:																	-
SP4:									-
SP5:

ExUns:	25	^	26	^	27	^	28	^	29	^	30	^	31	^	32
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for NF1

2 Ensembl transcripts including schematic representations:

ENST00000358273 ENST00000356175

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

NF1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for NF1

¹ / ² / ³

26 probe-sets matching NF1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
961_at²^{, 3}	U95-A	1	1.00	1.00	0.00	0.25	D12625	0.80	1.00	0.91	1
739_at²^{, 3}	U95-A	1	1.00	1.00	0.49	0.46	D42072	0.80	1.00	0.91	1
1236_s_at²^{, 3}	U95-A	1	1.00	1.00	0.82	1.22	M89914	1.00	0.87	0.94	1
38289_r_at²^{, 3}	U95-A	1	1.00	1.00	0.22	0.23	M89914	1.00	0.87	0.94	1
940_g_at²^{, 3}	U95-A	2	1.00	0.97	0.39	0.82	D12625	0.80	1.00	0.91	1
62316_at²^{, 3}	U95-C	1	0.50	1.00	0.89	0.97	AA642750	0.60	1.00	0.82	1
204325_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000267	0.60	1.00	0.82	1
216115_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AK024873	0.40	1.00	0.76	1
211095_at²^{, 3}	U133-A	1	1.00	1.00	--	--	D12625	0.80	1.00	0.91	1
212678_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AW054826	0.40	1.00	0.76	1
212676_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AW293356	0.40	1.00	0.76	1
210631_at²^{, 3}	U133-A	1	1.00	1.00	--	--	D42072	0.80	1.00	0.91	1
211914_x_at²^{, 3}	U133-A	2	1.00	0.91	--	--	M60915	0.60	0.75	0.68	1
204323_x_at²^{, 3}	U133-A	2	1.00	0.91	--	--	M61213	0.60	0.75	0.68	1
211094_s_at²^{, 3}	U133-A	2	1.00	0.91	--	--	D12625	0.80	1.00	0.91	1
243476_at²	U133-B	1	0.27	1.00	--	--	--	--	--	--	--
204325_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
216115_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211095_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
212678_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
212676_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210631_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211914_x_at²	U133Plus2	2	1.00	0.91	--	--	--	--	--	--	--
204323_x_at²	U133Plus2	2	1.00	0.91	--	--	--	--	--	--	--
211094_s_at²	U133Plus2	2	1.00	0.91	--	--	--	--	--	--	--
243476_at²	U133Plus2	1	0.27	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.113577
Expression variation in blood from EXPOLDB for NF1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for NF1 gene from 5/11 species (see all 11 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	NF1¹	--	neurofibromin 1	94.97(n) 99.43(a)	480618 XM_537738.2 XP_537738.2
chimpanzee (Pan troglodytes)	NF1¹	--	neurofibromin 1	99.82(n) 99.96(a)	454566 XM_511395.2 XP_511395.2
rat (Rattus norvegicus)	Nf1¹	--	neurofibromin 1	91.33(n) 98.62(a)	24592 NM_012609.1 NP_036741.1
mouse (Mus musculus)	Nf1^{1, 5}	11 (46.06 cM)⁵	neurofibromatosis 1^{1, 5}	91.58(n)¹ 98.49(a)¹	18015¹ NM_010897.2¹ NP_035027.1¹ AK033306⁵ AK050818⁵ (see all 18)
chicken (Gallus gallus)	NF1¹	--	neurofibromin 1	83.83(n) 95.52(a)	396085 XM_415914.2 XP_415914.2

About this table Species with no ortholog for NF1

ENSEMBL Gene Tree for NF1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for NF1 gene

RASAL3²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/1502 NCBI SNPs in NF1 are shown (see all 1502 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 509)

AB	SNP ID	Valid	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1048317^1,2	A,C,F,H,O	26728128(+)	`CTAGTC/TGGGGA`	2	--	ut3¹		5	MN EU EA WA	596
	rs1800845^1,2	A,C,F,H,O	26727564(+)	`AAATTG/CAGCCG`	2	--	ut3¹		8	MN EU EA WA NA	738
--	rs7406983^1,2	A,C,F	26727500(+)	`AAACGA/GGTTTA`	2	--	ut3¹		4	EA NA	216
	rs9900729^1,2	F,H	26725797(+)	`TGGACT/GTTTTT`	2	--	ut3¹		4	EU EA WA	420
--	rs4795581^1,2	C,H	26510188(+)	`TTTATA/CTCTCT`	3	Y/S	mis¹		5	NS EU EA WA	586
	rs9907627^1,2	C,H	26583284(+)	`CTGAAG/AAAGGA`	2	K/E	mis¹ ese³ trp³		4	EU EA WA	418
	rs9891398^1,2	H	26691785(+)	`CAATGA/CCAAGG`	2	D/A	mis¹ ese³		4	EU EA WA	414
--	rs3214196^1,2	C	26725424(+)	`CCATCC/-GGTTT`	2	--	ut3¹		1	NS	172
	rs17884878^1,2	F	26726757(+)	`TTAAGA/GTATAA`	2	--	ut3¹		1	NS	168
	rs4508470^1,2	H	26725314(-)	`AAAAAG/AAAAGC`	2	--	ut3¹ trp³		4	EU EA WA	402

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HapMap Linkage Disequilibrium images for NF1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 162200

UniProtKB/Swiss-Prot: NF1_HUMAN, P21359

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

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

Defects in NF1 may be a cause of colorectal cancer (CRC) [MIM:114500]

10/92 Novoseek disease relationships for NF1 gene (see all 92 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
neurofibromatosis type 1	97.01	219	7614817 (3), 9639526 (2), 9713168 (2), 10863097 (2) (see all 99)
neurofibroma	90.82	80	15986446 (5), 11159187 (3), 10629698 (3), 17236191 (2) (see all 48)
neurofibromatosis	89.61	49	8516298 (3), 1293176 (2), 8328449 (2), 9132486 (2) (see all 38)
neurofibroma plexiform	84.06	7	19414372 (1), 16536802 (1), 17215493 (1), 17551851 (1) (see all 6)
cafe-au-lait spots	83.61	6	10629698 (2), 8989459 (1), 15947937 (1), 8456833 (1) (see all 5)
neurofibrosarcoma	82.54	8	8755348 (1), 7519874 (1), 8637706 (1), 10029430 (1) (see all 6)
mpnst	78.90	22	19414372 (4), 12152785 (4), 11406645 (2), 10812008 (1) (see all 13)
watson syndrome	78.70	1	1770531 (1)
malignant peripheral nerve sheath tumors	78.20	10	10534774 (1), 17348023 (1), 19414372 (1), 9354454 (1) (see all 9)
peripheral nerve tumors	77.24	3	10767330 (1), 8637706 (1), 19041782 (1)

About this table

Genatlas disease: NF1

neurofibromatosis 1 (von Recklinghausen disease),characterized by cafe au lait spots,axillary

freckling,Lisch nodules of the iris,multiple neurofibromas,tibial pseudarthrosis and a

predisposition to certain benign and malignant tumors of the central and peripheral nervous

system,with a variable expression even among relatives with the same mutation and apparently an

earlier onset or a more severe form associated with deletions,including neurofibrosarcoma (see

TSG17C),Watson disease (cafe au lait spots with pulmonic stenosis)

GeneTests: NF1

Neurofibromatosis 1

Human Gene Mutation Database: NF1
Genetic Association Database: NF1
Human Genome Epidemiology Navigator: NF1 (25 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

Carboplatin Hypersensitivity High in Children, But Does Not Affect Progression-Free Survival Rate for Low-Grade Glioma: Presented at ASCO

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/625 PubMed articles for NF1 gene (see all 625 ):

NF1 gene analysis based on DHPLC. (PubMed id 12552569)^{1, 3, 4, 6} De Luca A.... Dallapiccola B. (2003)
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. (PubMed id 16380919)^{3, 4, 6} De Luca A.... Dallapiccola B. (2005)
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. (PubMed id 15146469)^{3, 4, 6} De Luca A.... Dallapiccola B. (2004)
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. (PubMed id 11258625)^{3, 4, 6} Messiaen L.M.... Wallace M.R. (1999)
Genomic organization of the neurofibromatosis 1 gene (NF1). (PubMed id 7774960)^{1, 3, 4} Li Y.... Viskochil D. (1995)
Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: s study of 20 cases. (PubMed id 13679444)^{1, 3, 6} Lasota J....Miettinen M. (2003)
Somatic mutations in the neurofibromatosis 1 gene in human tumors. (PubMed id 1568247)^{1, 3, 4} Li Y.... Cawthon R.M. (1992)
NF1 mutations and clinical spectrum in patients with spinal neurofibromas. (PubMed id 12746402)^{1, 3, 4} Kluwe L.... Mautner V.F. (2003)
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1). (PubMed id 9668168)^{1, 3, 4} Klose A....Nuernberg P. (1998)
The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. (PubMed id 2121371)^{1, 3, 4} Ballester R.... Collins F.S. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 4763	HGNC: 7765	AceView: NF1	Ensembl:ENSG00000196712	euGenes: HUgn4763
ECgene: NF1	H-InvDB: NF1

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for NF1	Genetics and Cytogenetics in Oncology and Haematology
NF1 Genetic Mutation Analysis Consortium	http://www.upmc.edu/Neurofibro/NNFFconsortium.htm
GeneReviews	http://www.genetests.org/query?gene=NF1
NIEHS-SNPs	http://egp.gs.washington.edu/data/nf1/

Licensable Technologies for NF1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for NF1:

TaqMan ® Gene Expression Assays

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Free SNP selection tool

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Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for NF1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
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	Predesigned and custom siRNAs for NF1		Antibodies for NF1
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NF1 Gene

protein-coding GIFtS: 72

Aliases &
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Proteins
for NF1

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for NF1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

NF1 Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor NF1

Summariesfor NF1

Genomic Locationfor NF1

Proteinsfor NF1

Protein Domains/Familiesfor NF1

Gene Functionfor NF1

Pathways & Interactionsfor NF1

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Medical Newsfor NF1

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Genome Databases showing NF1

Other Databases showing NF1

Specialized Databases showing NF1

Licensable Technologiesfor NF1

Servicesfor NF1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for NF1

Summaries
for NF1

Genomic Location
for NF1

Proteins
for NF1

Protein Domains/
Families
for NF1

Gene Function
for NF1

Pathways & Interactions
for NF1

Drugs & Compounds
for NF1

Transcripts
for NF1

Expression
for NF1

Orthologs
for NF1

Paralogs
for NF1

SNPs/Variants
for NF1

Disorders & Mutations
for NF1

Medical News
for NF1

Publications
for NF1

Licensable Technologies
for NF1

Services
for NF1