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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NF1 Gene

protein-coding GIFtS: 68
GCID: GC17P029421

neurofibromin 1

Explore 110 diseases affiliated with
NF1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Neurofibromin 1¹ ²
Neurofibromatosis-Related Protein NF-1² ³
NFNS² ⁵
VRNF² ⁵
WSS² ⁵
Neurofibromin¹

External Ids:	HGNC: 7765¹	Entrez Gene: 4763²	Ensembl: ENSG00000196712⁷	OMIM: 613113⁵	UniProtKB: P21359³

Export aliases for NF1 gene to outside databases

Previous GC identifers: GC17M029610 GC17P031329 GC17P029271 GC17P029567 GC17P026446 GC17P025632

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

Entrez Gene 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, Jul 2008)

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 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010799.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NF1 gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NF1 promoter sequence

Search SABiosciences Chromatin IP Primers for NF1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NF1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
NF1 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P029421: view genomic region (about GC identifiers)

Start:	29,421,945 bp from pter	End:	29,709,134 bp from pter
Size:	287,190 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Sequence caution: Sequence=AAA59923.1; Type=Erroneous initiation;

6 PDB 3D structures from and Proteopedia for NF1:

1NF1 (3D)

2D4Q (3D)

2E2X (3D)

3P7Z (3D)

3PEG (3D)

3PG7 (3D)

Secondary accessions: O00662 Q14284 Q14930 Q14931 Q9UMK3

Alternative splicing: 5 isoforms: P21359-1 P21359-2 P21359-3 P21359-4 P21359-5

Explore the universe of human proteins at neXtProt for NF1: NX_P21359

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P21359

NF1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000258.1 NP_001035957.1 NP_001121619.1

ENSEMBL proteins:

ENSP00000351015 ENSP00000348498 ENSP00000412921 ENSP00000462408 ENSP00000467284

ENSP00000463682 ENSP00000389907 ENSP00000463819 ENSP00000462157 ENSP00000467080

ENSP00000462700 ENSP00000464678 ENSP00000464702 ENSP00000465138 ENSP00000396481

ENSP00000398991

Human Recombinant Protein Products:

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	Novus Biologicals NF1 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for NF1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

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

NF1 for ontologies About GeneDecksing

NF1 Antibody Products:

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	ThermoFisher Antibody for NF1

Assay Products for NF1:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for NF1

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

NF1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR023152 RasGAP_CS

IPR001936 RasGAP

IPR011989 ARM-like

IPR008936 Rho_GTPase_activation_prot

IPR001251 CRAL-TRIO_dom

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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

miRNA Products:		miRTarBase miRNAs that target NF1: hsa-mir-10b (MIRT005504)

		OriGene 3'-UTR Clone (see all 3): NF1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NF1
		8/100 QIAGEN miScript miRNA Assays for microRNAs that regulate NF1 (see all 100):
		hsa-miR-411* hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-15a hsa-miR-128 hsa-miR-3074-3p hsa-miR-30d hsa-miR-519a

		SwitchGear 3'UTR luciferase reporter plasmid: NF1 3' UTR sequence

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Gene Editing
Products:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005096	GTPase activator activity	--	--
GO:0005099	Ras GTPase activator activity	IDA	1570015
GO:0005515	protein binding	IPI	16374483

NF1 for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for NF1:

Decreased sensitivity to pacli

Increased cell number in G1, s

Stronger migration

Synthetic lethal with Ras

Animal Models:
Mouse knock-outs for NF1: Nf1^tm1Fcr Nf1^tm2Tyj Nf1^tm1Cbr Nf1^tm1Tyj Nf1^tm1.1Par
15/23 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Nf1) (see all 23):

behavior/neurological	cardiovascular system	cellular	craniofacial	embryogenesis
endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism
immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging

NF1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

G-protein signaling TC21 regulation pathway

	G-protein signaling TC21 regulation pathway	1.00			G-protein signaling_M-RAS regulation pathway	0.71
	G-protein signaling_TC21 regulation pathway	1.00			G-protein signaling M-RAS regulation pathway	0.71

Development VEGF signaling via VEGFR2 - generic cascades

	Development VEGF signaling via VEGFR2 - generic cascades	1.00			Development_VEGF signaling and activation	0.75
	Development VEGF signaling and activation	0.75			Development_VEGF signaling via VEGFR2 - generic cascades	0.51

MAPK signaling pathway

MAPK signaling pathway

1.00

MAPK signaling pathway

0.50

pilocytic astrocytoma

pilocytic astrocytoma

1.00

Integrated Breast Cancer Pathway

Integrated Breast Cancer Pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

4 EMD Millipore Pathways for NF1

	Development VEGF signaling and activation
	G-protein signaling M-RAS regulation pathway
	G-protein signaling TC21 regulation pathway
	Development VEGF signaling via VEGFR2 - generic cascades

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NF1

	Molecular Mechanisms of Cancer
	Glioblastoma Multiforme

4 GeneGo (Thomson Reuters) Pathways for NF1

	G-protein signaling TC21 regulation pathway
	G-protein signaling M-RAS regulation pathway
	Development VEGF signaling via VEGFR2 - generic cascades
	Development VEGF signaling and activation

5/7 BioSystems Pathways for NF1 (see all 7)

	Integrated Breast Cancer Pathway
	MAPK signaling pathway
	Signaling Pathways in Glioblastoma
	pilocytic astrocytoma
	Syndecan-2-mediated signaling events

1 Kegg Pathway (Kegg details for NF1):

MAPK signaling pathway

NF1 for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

5/548 Interacting proteins for NF1 (P21359^{1, 2, 3} ENSP00000351015⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 548)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APP	P05067¹^,³, ENSP00000284981⁴	EBI-1172917,EBI-77613 I2D: score=3 STRING: ENSP00000284981
YWHAE	P62258²^,³	MINT-7947479 I2D: score=1
SUMO1	P63165²^,³, ENSP00000376076⁴	MINT-3380416 MINT-7947479 I2D: score=1 STRING: ENSP00000376076
SDC2	P34741¹^,³, ENSP00000307046⁴	EBI-1172917,EBI-1172957 I2D: score=3 STRING: ENSP00000307046
GRIN1	Q05586³, ENSP00000360616⁴	I2D: score=3 STRING: ENSP00000360616

About this table

Gene Ontology (GO): 5/64 biological process terms (GO ID links to tree view) (see all 64): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000165	MAPK cascade	ISS	--
GO:0001649	osteoblast differentiation	ISS	--
GO:0001656	metanephros development	ISS	--
GO:0001666	response to hypoxia	ISS	--
GO:0001889	liver development	ISS	--

NF1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NF1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NF1
10/35 Novoseek chemical compound relationships for NF1 gene (see all 35) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mantgtp	61.7	1	12667087 (1)
gtp	58.7	34	8262937 (2), 12667087 (2), 8626511 (2), 8437847 (2) (see all 21)
gdp	38.3	9	8437847 (2), 8658179 (1), 10555980 (1), 12667087 (1) (see all 5)
guanosine	34.3	10	1496380 (1), 8658179 (1), 9589427 (1), 8302341 (1) (see all 8)
rapamycin	24.3	7	19634141 (1), 20154675 (1), 16267007 (1), 18316617 (1)
succinate	13.7	1	17102089 (1)
retinoic acid	12.3	3	9619634 (2), 7576949 (1)
phosphatidylinositol	11.4	2	18271718 (1), 10398103 (1)
tyrosine	7.37	9	16914719 (3), 15467451 (1), 17348023 (1), 16467864 (1) (see all 7)
nacl	5.61	2	8262937 (1), 7887472 (1)

Search CenterWatch for drugs/clinical trials and news about NF1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NF1 gene (3 alternative transcripts):

NM_000267.3 NM_001042492.2 NM_001128147.2

Unigene Cluster for NF1:

Neurofibromin 1

Hs.113577 [show with all ESTs]

Unigene Representative Sequence: NM_001042492

18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):

ENST00000487476(uc002hge.2) ENST00000358273(uc002hgg.3) ENST00000356175(uc002hgh.3 uc010cso.3)

ENST00000431387(uc002hgf.2) ENST00000579081 ENST00000489712 ENST00000495910(uc010csn.2)

ENST00000490416 ENST00000456735 ENST00000493220(uc002hgi.1) ENST00000466819

ENST00000479614 ENST00000581113 ENST00000479536 ENST00000584328 ENST00000581790

ENST00000471572 ENST00000582892

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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

24/26 DOTS entries (see all 26):

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.97771427 DT.120972573

DT.120973050 DT.414180 DT.100739552 DT.100749794 DT.75174633 DT.95286423 DT.97796593 DT.75120933

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

AL120050 AI244300 AA885527 BX118883 M82814 AI273054 D42072 BM013806

AA770360 BM683129 AW173779 T81221 CD244261 M60915 AA749036 CB243676

D12625 AA917437 M38107 BQ007653 BM504583 BP350476 AA744370 BU619171

GeneLoc Exon Structure

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

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:

ECgene alternative splicing isoforms for NF1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NF1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

NF1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Valves

Atrioventricular Valve Cells

Selective marker (cell-identifying gene)

Endocardium, Myocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NF1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NF1

SOURCE GeneReport for Unigene cluster: Hs.113577

SABiosciences Expression via Pathway-Focused PCR Arrays including NF1 (see all 6):

cAMP / Ca2+ Signaling PathwayFinder in human mouse rat

Oncogenes & Tumor Suppressor Genes in human mouse rat

Neurogenesis in human mouse rat

Lung Cancer in human mouse rat

Neurotrophins & Receptors in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for NF1 gene from 3/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
chicken (Gallus gallus)	Aves	NF1¹	neurofibromin 1	83.83(n) 95.52(a)	396085 XM_415914.3 XP_415914.2
zebrafish (Danio rerio)	Actinopterygii	wufe06d03²	Transcribed sequence with moderate similarity to protein more	75.63(n)	57060183
fruit fly (Drosophila melanogaster)	Insecta	Nf1^{1 , 3}	cAMP-mediated signaling RAS GTPase activator³ Neurofibromin 1¹	55(a)³ 57.97(n)¹ 60.35(a)¹	96F9³ 43149¹ NM_170253.2¹ NP_733132.2¹

ENSEMBL Gene Tree for NF1 (if available)
TreeFam Gene Tree for NF1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NF1 gene

2 SIMAP similar genes for NF1 using alignment to 17 protein entries: NF1_HUMAN (see all proteins):

DKFZp686J1293 NF1 gene homologue

NF1 for paralogs About GeneDecksing

5/9 Pseudogenes.org Pseudogenes for NF1 (see all 9)
PGOHUM00000239411 PGOHUM00000247700 PGOHUM00000258760 PGOHUM00000246630 PGOHUM00000246642

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs199474792^1,2	C	pathogenic	27340508(+)	`ATGGCC/TGTCAA`	4	P L	mis¹		0	--	--	--	--
rs137854556^1,2	C	pathogenic	27439384(+)	`CTTCCA/C/GAGGCA`	6	Q P R	mis¹		0	--	--	--	--
rs137854566^1,2	C	pathogenic	27445967(+)	`CTTCCC/G/TTTGTG`	6	P R L	mis¹		0	--	--	--	--
rs199474732^1,2	C	untested	27441998(+)	`CTGATC/G/TGGTTT`	6	R G W	mis¹		0	--	--	--	--
rs199474740^1,2	C,	untested	27443021(+)	`CAAGCA/GTGGAA`	4	M V	mis¹		0	--	--	--	--
rs142712751^1,2	C,F,	untested	27451579(+)	`AAATAC/G/TTGATC`	6	L V	syn¹ mis¹		2		NA EU	5397
rs17879386^1,2	C,F,	--	25630938(+)	`ACATAG/ACAAGA`	3	--	us2k¹		3		NS NA	302
rs9675207^1,2	C,F,	--	25631104(+)	`actgcA/Gcagag`	3	--	us2k¹		3		WA	122
rs111637966^1,2		--	25631152(+)	`GGTAAA/TATGTA`	3	--	us2k¹		2		CSA WA	120
rs17885717^1,2	C,	--	25631541(+)	`TGGATG/ATAATC`	3	--	us2k¹		1		NS	150

HapMap Linkage Disequilibrium report for NF1 (29421945 - 29671945 bp, first 250kb of NF1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for NF1
4 CNVs: 72861 4999 72862 72860
4 Indels: 40176 42474 61566 34310
Human Gene Mutation Database (HGMD): NF1

Locus Specific Mutation Databases (LSDB): NF1

15 SABiosciences Cancer Mutation PCR Assays for NF1 (see first 5):

Cosmic Id	AA Change
24576	p.K1444E
24444	p.R816*
24443	p.R1362*
24486	p.R304*
24495	p.Q514fs*43
32451	p.S1660fs*37
39161	p.Y2285fs*5
30762	p.R1276*
30766	p.R1968*
24464	p.R461*
24466	p.R1534*
30670	p.S2549*
27386	p.0?
24489	p.P678fs*10
36883	p.R1769*

1 SABiosciences Cancer Mutation PCR Array containing NF1:

Tumor Suppressor Panel 384HT

1 SABiosciences qBiomarker Copy Number PCR Array containing NF1:

Oncogenes & Tumor Suppressor Genes 384HC

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NF1

DNA2.0 Custom Variant and Variant Library Synthesis for NF1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NF1 for disorders           About GeneDecksing

OMIM gene information: 613113
OMIM disorders: 162200  607785  162210  601321  193520
UniProtKB/Swiss-Prot: NF1_HUMAN, P21359

Defects in NF1 are the cause of neurofibromatosis type 1 (NF1) [MIM:162200]; also known as von Recklinghausen

syndrome. A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris,

tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased

susceptibility to the development of benign and malignant 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 (FSNF) [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]

20/110 diseases for NF1 (see all 110): About MalaCards

cafe-au-lait spots neurofibromatosis juvenile myelomonocytic leukemia watson syndrome

myelomonocytic leukemia von hippel-lindau disease li-fraumeni syndrome malignant peripheral nerve sheath tumor

familial spinal neurofibromatosis melanoma, desmoplastic neurotrophic multiple endocrine neoplasia neurofibromatosis-noonan syndrome

ring chromosome 22 multiple endocrine neoplasia type 2a leukemia optic pathway glioma

dental enamel hypoplasia ring chromosomes retinol binding protein tenosynovial giant cell tumor

15 diseases from the University of Copenhagen DISEASES database for NF1:

Neurofibromatosis Neurofibroma Malignant peripheral nerve sheath tumor Malignant glioma

Neurilemmoma Optic nerve glioma Genetic disorder Juvenile myelomonocytic leukemia

Noonan syndrome Paraganglioma Meningocele Hemangioma

Meningioma Learning disability Hydrocephalus

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

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neurofibromatosis type 1	97.1	238	7614817 (3), 9639526 (2), 9713168 (2), 10863097 (2) (see all 99)
neurofibroma	91	80	15986446 (5), 11159187 (3), 10629698 (3), 17236191 (2) (see all 48)
neurofibromatosis	89.5	57	8516298 (3), 1293176 (2), 8328449 (2), 9132486 (2) (see all 43)
neurofibroma plexiform	83.5	7	19414372 (1), 16536802 (1), 17215493 (1), 17551851 (1) (see all 6)
cafe-au-lait spots	83.1	6	10629698 (2), 8989459 (1), 15947937 (1), 8456833 (1) (see all 5)
neurofibrosarcoma	81.9	8	8755348 (1), 7519874 (1), 8637706 (1), 10029430 (1) (see all 6)
mpnst	81.3	26	19414372 (4), 12152785 (4), 11406645 (2), 10812008 (1) (see all 15)
juvenile myelomonocytic leukemia	81	8	9639526 (2), 17353900 (2), 12393498 (1), 20015894 (1) (see all 8)
malignant peripheral nerve sheath tumors	80.4	11	10534774 (1), 17348023 (1), 19414372 (1), 9354454 (1) (see all 10)
watson syndrome	78.1	1	1770531 (1)

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

Genetic Association Database (GAD): NF1
Human Genome Epidemiology (HuGE) Navigator: NF1 (38 documents)

Export disorders for NF1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NF1 gene, integrated from 9 sources (see all 745):
(articles sorted by number of sources associating them with NF1)

Utopia: connect your pdf to the dynamic
world of online information

NF1 gene analysis based on DHPLC. (PubMed id 12552569)^{1, 2, 4, 9} De Luca A.... Dallapiccola B. (2003)
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. (PubMed id 16380919)^{1, 2, 4} De Luca A.... Dallapiccola B. (2005)
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. (PubMed id 15146469)^{1, 2, 4} 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)^{1, 2, 4} Messiaen L.M.... Wallace M.R. (1999)
Genomic organization of the neurofibromatosis 1 gene (NF1). (PubMed id 7774960)^{1, 2, 9} 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, 4, 9} Lasota J....Miettinen M. (2003)
Evidence for the presence of two amino-terminal isoforms of neurofibromin, a gene product responsible for neurofibromatosis type 1. (PubMed id 7570581)^{1, 2, 9} Suzuki H.... Shibahara S. (1995)
Somatic mutations in the neurofibromatosis 1 gene in human tumors. (PubMed id 1568247)^{1, 2, 9} Li Y.... Cawthon R.M. (1992)
NF1 mutations and clinical spectrum in patients with spinal neurofibromas. (PubMed id 12746402)^{1, 2, 9} Kluwe L.... Mautner V.F. (2003)
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1). (PubMed id 9668168)^{1, 2, 9} Klose A....Nuernberg P. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

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

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for NF1	Pharmacogenomics, SNPs, Pathways
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.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NF1
NIEHS-SNPs	http://egp.gs.washington.edu/data/nf1/

Intellectual Property for NF1 gene
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Patent Information for NF1 gene:
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GeneCards and IP:
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neurofibromin 1

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NF1 Gene

neurofibromin 1

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