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P21359 (NF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 179. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

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

Cleaved into the following chain:

  1. Neurofibromin truncated
Gene names
Name:NF1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2839 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.16 Ref.18

Subcellular location

Nucleus. Nucleusnucleolus Ref.23.

Tissue specificity

Detected in brain, peripheral nerve, lung, colon and muscle. Ref.16

Domain

Binds phospholipids via its C-terminal CRAL-TRIO domain. Binds primarily glycerophospholipids with monounsaturated C18:1 and/or C16:1 fatty acid moieties and a phosphatidylethanolamine or phosphatidylcholine headgroup. Has lesser affinity for lipids containing phosphatidylserine and phosphatidylinositol. Ref.34 Ref.35 Ref.36

Involvement in disease

Neurofibromatosis 1 (NF1) [MIM:162200]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.36 Ref.38 Ref.41 Ref.42 Ref.43 Ref.44 Ref.45 Ref.46 Ref.47 Ref.48 Ref.49 Ref.50 Ref.51 Ref.52 Ref.53 Ref.54 Ref.55 Ref.57 Ref.59 Ref.60 Ref.62 Ref.63 Ref.64 Ref.65 Ref.66 Ref.67 Ref.68 Ref.69 Ref.74

Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Watson syndrome (WS) [MIM:193520]: A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Familial spinal neurofibromatosis (FSNF) [MIM:162210]: Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.58

Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.61 Ref.70 Ref.72

Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
Note: The gene represented in this entry may be involved in disease pathogenesis.

Sequence similarities

Contains 1 CRAL-TRIO domain.

Contains 1 Ras-GAP domain.

Caution

Was originally (Ref.45) 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.19 Ref.20

Sequence caution

The sequence AAA59923.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
RNA editing
   DiseaseDisease mutation
Tumor suppressor
   LigandLipid-binding
   Molecular functionGTPase activation
   PTMAcetylation
Phosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processMAPK cascade

Inferred from sequence or structural similarity. Source: HGNC

Ras protein signal transduction

Inferred from sequence or structural similarity. Source: HGNC

Schwann cell development

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

brain development

Inferred from sequence or structural similarity. Source: HGNC

camera-type eye morphogenesis

Inferred from sequence or structural similarity. Source: HGNC

cell communication

Inferred from sequence or structural similarity. Source: HGNC

cerebral cortex development

Inferred from sequence or structural similarity. Source: HGNC

cognition

Inferred from mutant phenotype PubMed 17299016. Source: HGNC

collagen fibril organization

Inferred from sequence or structural similarity. Source: HGNC

extracellular matrix organization

Inferred from sequence or structural similarity. Source: HGNC

extrinsic apoptotic signaling pathway via death domain receptors

Inferred from electronic annotation. Source: Ensembl

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 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 MAPK cascade

Inferred from sequence or structural similarity. Source: HGNC

negative regulation of Rac protein signal transduction

Inferred from electronic annotation. Source: Ensembl

negative regulation of Ras protein signal transduction

Inferred from Biological aspect of Ancestor. Source: RefGenome

negative regulation of angiogenesis

Inferred from electronic annotation. Source: Ensembl

negative regulation of astrocyte differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell migration

Inferred from mutant phenotype PubMed 16648142. Source: MGI

negative regulation of cell-matrix adhesion

Inferred from electronic annotation. Source: Ensembl

negative regulation of endothelial cell proliferation

Inferred from mutant phenotype PubMed 17404841. Source: HGNC

negative regulation of fibroblast proliferation

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of neuroblast proliferation

Inferred from sequence or structural similarity. Source: HGNC

negative regulation of neurotransmitter secretion

Inferred from electronic annotation. Source: Ensembl

negative regulation of oligodendrocyte differentiation

Inferred from sequence or structural similarity. Source: HGNC

negative regulation of osteoclast differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of protein kinase activity

Inferred from sequence or structural similarity. Source: HGNC

negative regulation of transcription factor import into nucleus

Inferred from sequence or structural similarity. Source: HGNC

neural tube development

Inferred from electronic annotation. Source: Ensembl

osteoblast differentiation

Inferred from sequence or structural similarity. Source: HGNC

peripheral nervous system development

Inferred from sequence or structural similarity. Source: HGNC

phosphatidylinositol 3-kinase signaling

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 direct assay Ref.18. Source: UniProtKB

positive regulation of adenylate cyclase activity

Inferred from sequence or structural similarity. Source: HGNC

positive regulation of apoptotic process

Inferred from sequence or structural similarity. Source: HGNC

positive regulation of endothelial cell proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of extrinsic apoptotic signaling pathway in absence of ligand

Inferred from electronic annotation. Source: Ensembl

positive regulation of extrinsic apoptotic signaling pathway via death domain receptors

Inferred from electronic annotation. Source: Ensembl

positive regulation of neuron apoptotic process

Inferred from sequence or structural similarity. Source: HGNC

regulation of Ras GTPase activity

Inferred from mutant phenotype PubMed 1570015. Source: HGNC

regulation of angiogenesis

Inferred from mutant phenotype PubMed 17404841. Source: HGNC

regulation of blood vessel endothelial cell migration

Inferred from mutant phenotype PubMed 17404841. 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

regulation of glial cell differentiation

Inferred from sequence or structural similarity. Source: HGNC

regulation of long-term neuronal synaptic plasticity

Inferred from electronic annotation. Source: Ensembl

regulation of synaptic transmission, GABAergic

Inferred from electronic annotation. Source: Ensembl

response to hypoxia

Inferred from sequence or structural similarity. Source: HGNC

skeletal muscle tissue development

Inferred from electronic annotation. Source: Ensembl

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_componentaxon

Inferred from direct assay PubMed 1550670. Source: HGNC

cytoplasm

Inferred from sequence or structural similarity PubMed 1550670. Source: HGNC

dendrite

Inferred from direct assay PubMed 1550670. Source: HGNC

intrinsic component of the cytoplasmic side of the plasma membrane

Inferred from Biological aspect of Ancestor. Source: RefGenome

nucleus

Inferred from sequence or structural similarity PubMed 1550670. Source: HGNC

   Molecular_functionRas GTPase activator activity

Inferred from direct assay Ref.18. Source: UniProtKB

phosphatidylcholine binding

Inferred from direct assay Ref.35. Source: UniProtKB

phosphatidylethanolamine binding

Inferred from direct assay Ref.35. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 11356864PubMed 16374483. Source: IntAct

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 6 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.
Isoform 5 (identifier: P21359-5)

The sequence of this isoform differs from the canonical sequence as follows:
     574-593: SSQMLFYICKKLTSHQMLSS → RYMYFYFLNSTFKFYFVFLS
     594-2839: Missing.
Isoform 6 (identifier: P21359-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1371-1391: Missing.
     2792-2792: P → PASLPCSNSAVFMQLFPHQ

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 28392838Neurofibromin
PRO_0000010773
Chain2 – 13051304Neurofibromin truncated
PRO_0000010774

Regions

Domain1235 – 1451217Ras-GAP
Domain1580 – 1738159CRAL-TRIO
Region1580 – 1837258Lipid binding
Motif2555 – 257117Bipartite nuclear localization signal
Compositional bias1352 – 13554Poly-Ser

Amino acid modifications

Modified residue21N-acetylalanine By similarity
Modified residue8641Phosphoserine Ref.26 Ref.29 Ref.30
Modified residue8761Phosphoserine Ref.29
Modified residue21881Phosphoserine Ref.26
Modified residue25151Phosphoserine Ref.26 Ref.29
Modified residue25211Phosphoserine Ref.26
Modified residue25431Phosphoserine Ref.26 Ref.32
Modified residue28171Phosphoserine Ref.30 Ref.32

Natural variations

Alternative sequence548 – 5514ALLV → VRGK in isoform 3.
VSP_001629
Alternative sequence552 – 28392288Missing in isoform 3.
VSP_001630
Alternative sequence574 – 59320SSQML…QMLSS → RYMYFYFLNSTFKFYFVFLS in isoform 5.
VSP_043467
Alternative sequence594 – 28392246Missing in isoform 5.
VSP_043468
Alternative sequence1371 – 139121Missing in isoform 1 and isoform 6.
VSP_001628
Alternative sequence1591 – 15988SIFYQAGT → TPPPEPET in isoform 4.
VSP_001631
Alternative sequence1599 – 28391241Missing in isoform 4.
VSP_001632
Alternative sequence27921P → PASLPCSNSAVFMQLFPHQ in isoform 6.
VSP_053587
Natural variant311H → R in NF1. Ref.67
Corresponds to variant rs199474725 [ dbSNP | Ensembl ].
VAR_032459
Natural variant741A → D in mismatch repair deficient cancer cells. Ref.62
Corresponds to variant rs199474726 [ dbSNP | Ensembl ].
VAR_017550
Natural variant801Y → C. Ref.7
VAR_022254
Natural variant801Y → S.
Corresponds to variant rs4795581 [ dbSNP | Ensembl ].
VAR_049135
Natural variant821S → F in NF1. Ref.60
Corresponds to variant rs199474729 [ dbSNP | Ensembl ].
VAR_021730
Natural variant931C → Y in NF1. Ref.62
Corresponds to variant rs199474728 [ dbSNP | Ensembl ].
VAR_017551
Natural variant1171I → S in NF1. Ref.55
Corresponds to variant rs199474731 [ dbSNP | Ensembl ].
VAR_010989
Natural variant1451L → P in NF1. Ref.67
Corresponds to variant rs199474734 [ dbSNP | Ensembl ].
VAR_032460
Natural variant1571I → N in NF1. Ref.66
Corresponds to variant rs199474744 [ dbSNP | Ensembl ].
VAR_021731
Natural variant1601R → T in NF1. Ref.74
Corresponds to variant rs199474752 [ dbSNP | Ensembl ].
VAR_065888
Natural variant1761D → E Found in mismatch repair deficient cancer cells; also found in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. Ref.54 Ref.62 Ref.66 Ref.67 Ref.73
Corresponds to variant rs112306990 [ dbSNP | Ensembl ].
VAR_017552
Natural variant1861D → V in NF1; reduced splicing enhancement. Ref.65
VAR_032461
Natural variant1941L → R in NFNS. Ref.70
Corresponds to variant rs199474753 [ dbSNP | Ensembl ].
VAR_032462
Natural variant2161L → P in NF1. Ref.54
Corresponds to variant rs199474756 [ dbSNP | Ensembl ].
VAR_021732
Natural variant3241C → R in NF1. Ref.67
Corresponds to variant rs199474735 [ dbSNP | Ensembl ].
VAR_032463
Natural variant3301A → T in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. Ref.73
Corresponds to variant rs199474767 [ dbSNP | Ensembl ].
VAR_067201
Natural variant3371E → V in NF1. Ref.67
Corresponds to variant rs199474736 [ dbSNP | Ensembl ].
VAR_032464
Natural variant3381D → G in NF1. Ref.49
Corresponds to variant rs199474773 [ dbSNP | Ensembl ].
VAR_010990
Natural variant3571L → P in NF1. Ref.54
Corresponds to variant rs137854563 [ dbSNP | Ensembl ].
VAR_021733
Natural variant3931H → D in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. Ref.73
Corresponds to variant rs199474768 [ dbSNP | Ensembl ].
VAR_067202
Natural variant3931H → L in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. Ref.73
Corresponds to variant rs199474769 [ dbSNP | Ensembl ].
VAR_067203
Natural variant4891Y → C in NF1. Ref.67
Corresponds to variant rs137854557 [ dbSNP | Ensembl ].
VAR_032465
Natural variant4911Y → C in NF1. Ref.54
Corresponds to variant rs199474757 [ dbSNP | Ensembl ].
VAR_021734
Natural variant5081L → P in NF1. Ref.52
Corresponds to variant rs137854558 [ dbSNP | Ensembl ].
VAR_010991
Natural variant5191Q → P in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. Ref.73
Corresponds to variant rs199474770 [ dbSNP | Ensembl ].
VAR_067204
Natural variant5321L → P in NF1. Ref.67
Corresponds to variant rs199474737 [ dbSNP | Ensembl ].
VAR_032466
Natural variant5491L → P in NF1. Ref.54
Corresponds to variant rs199474758 [ dbSNP | Ensembl ].
VAR_021735
Natural variant5741S → R in NF1. Ref.67
VAR_032467
Natural variant5781L → R in NF1. Ref.64
Corresponds to variant rs199474774 [ dbSNP | Ensembl ].
VAR_021736
Natural variant5811I → T in NF1. Ref.54
Corresponds to variant rs199474759 [ dbSNP | Ensembl ].
VAR_021737
Natural variant5831K → R in NF1. Ref.54
Corresponds to variant rs199474760 [ dbSNP | Ensembl ].
VAR_021738
Natural variant6041L → V in NF1. Ref.62
Corresponds to variant rs142712751 [ dbSNP | Ensembl ].
VAR_017553
Natural variant6291G → R in NF1; affects splicing by creating a novel splice acceptor site. Ref.44 Ref.66 Ref.67
Corresponds to variant rs199474738 [ dbSNP | Ensembl ].
VAR_002653
Natural variant6651S → F in NF1; unknown pathological significance. Ref.54 Ref.67
Corresponds to variant rs145891889 [ dbSNP | Ensembl ].
VAR_021739
Natural variant6781P → L. Ref.7
Corresponds to variant rs17881753 [ dbSNP | Ensembl ].
VAR_022255
Natural variant6951L → P in NF1. Ref.54
Corresponds to variant rs199474761 [ dbSNP | Ensembl ].
VAR_021740
Natural variant7121H → R in mismatch repair deficient cancer cells. Ref.62
Corresponds to variant rs199474727 [ dbSNP | Ensembl ].
VAR_017554
Natural variant7631L → P in NF1. Ref.54
Corresponds to variant rs199474762 [ dbSNP | Ensembl ].
VAR_021741
Natural variant7651R → H. Ref.51
Corresponds to variant rs199474777 [ dbSNP | Ensembl ].
VAR_021742
Natural variant7761A → T in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. Ref.73
Corresponds to variant rs199474771 [ dbSNP | Ensembl ].
VAR_067205
Natural variant7771W → S in NF1. Ref.54 Ref.66
Corresponds to variant rs199474745 [ dbSNP | Ensembl ].
VAR_021743
Natural variant7801T → K in NF1. Ref.54 Ref.59 Ref.63 Ref.66
Corresponds to variant rs199474746 [ dbSNP | Ensembl ].
VAR_021744
Natural variant7811H → P in NF1. Ref.54
Corresponds to variant rs199474763 [ dbSNP | Ensembl ].
VAR_021745
Natural variant7841W → C in NF1. Ref.59
Corresponds to variant rs199474778 [ dbSNP | Ensembl ].
VAR_021746
Natural variant7841W → R in NF1. Ref.60 Ref.66
Corresponds to variant rs199474730 [ dbSNP | Ensembl ].
VAR_021747
Natural variant8441L → F in NF1. Ref.57 Ref.67
Corresponds to variant rs199474785 [ dbSNP | Ensembl ].
VAR_010992
Natural variant8441L → P in NF1. Ref.67
Corresponds to variant rs137854566 [ dbSNP | Ensembl ].
VAR_032468
Natural variant8441L → R in NF1; sporadic. Ref.47 Ref.62 Ref.69
Corresponds to variant rs137854566 [ dbSNP | Ensembl ].
VAR_002654
Natural variant8471L → P in NF1. Ref.54 Ref.63 Ref.66
Corresponds to variant rs199474747 [ dbSNP | Ensembl ].
VAR_021748
Natural variant8481G → E in NF1. Ref.63 Ref.66
Corresponds to variant rs199474748 [ dbSNP | Ensembl ].
VAR_021749
Natural variant8731R → C. Ref.67
Corresponds to variant rs199474739 [ dbSNP | Ensembl ].
VAR_032469
Natural variant8981L → P in NF1; sporadic. Ref.47 Ref.62
Corresponds to variant rs199474786 [ dbSNP | Ensembl ].
VAR_002655
Natural variant9201L → P in NF1; patient with cafe-au-lait spots; may be a distinct form of NF1. Ref.64
Corresponds to variant rs199474775 [ dbSNP | Ensembl ].
VAR_021750
Natural variant9681M → R in NF1. Ref.63 Ref.66
Corresponds to variant rs199474749 [ dbSNP | Ensembl ].
VAR_021751
Natural variant9911Missing in NF1. Ref.40 Ref.67
VAR_002656
Natural variant10351M → R in NF1. Ref.45
Corresponds to variant rs137854553 [ dbSNP | Ensembl ].
VAR_002657
Natural variant10731M → V in NF1. Ref.67
Corresponds to variant rs199474740 [ dbSNP | Ensembl ].
VAR_032470
Natural variant11471L → P in NF1. Ref.59
Corresponds to variant rs199474779 [ dbSNP | Ensembl ].
VAR_021752
Natural variant11561N → S in NF1. Ref.54
Corresponds to variant rs199474764 [ dbSNP | Ensembl ].
VAR_021753
Natural variant11661G → D in NF1. Ref.41
Corresponds to variant rs199474787 [ dbSNP | Ensembl ].
VAR_010993
Natural variant11871L → I in a colorectal cancer sample; somatic mutation. Ref.71
VAR_035543
Natural variant11931F → C in NF1. Ref.59
Corresponds to variant rs199474780 [ dbSNP | Ensembl ].
VAR_021754
Natural variant11961L → R in NF1. Ref.67
Corresponds to variant rs199474741 [ dbSNP | Ensembl ].
VAR_032471
Natural variant12041R → G in NF1. Ref.51
Corresponds to variant rs199474732 [ dbSNP | Ensembl ].
VAR_021755
Natural variant12041R → W in NF1. Ref.55
Corresponds to variant rs199474732 [ dbSNP | Ensembl ].
VAR_010994
Natural variant12431L → P in NF1; with neurofibromatous neuropathy. Ref.68
Corresponds to variant rs137854564 [ dbSNP | Ensembl ].
VAR_032472
Natural variant12501R → P in NF1. Ref.54
Corresponds to variant rs199474765 [ dbSNP | Ensembl ].
VAR_021756
Natural variant12761R → G in NF1. Ref.67
Corresponds to variant rs199474742 [ dbSNP | Ensembl ].
VAR_032473
Natural variant12761R → P in NF1; complete loss of GAP activity. Ref.50 Ref.54
Corresponds to variant rs137854556 [ dbSNP | Ensembl ].
VAR_010995
Natural variant12761R → Q in NF1 and mismatch repair deficient cancer cells. Ref.54 Ref.62 Ref.67
Corresponds to variant rs137854556 [ dbSNP | Ensembl ].
VAR_017555
Natural variant14111L → F in NFNS. Ref.72
Corresponds to variant rs199474789 [ dbSNP | Ensembl ].
VAR_065236
Natural variant14121R → S in NF1; significant reduction of GAP activity. Ref.46
Corresponds to variant rs137854554 [ dbSNP | Ensembl ].
VAR_010996
Natural variant14221Y → H. Ref.7
Corresponds to variant rs17884349 [ dbSNP | Ensembl ].
VAR_022256
Natural variant14301K → E in NF1. Ref.67
VAR_032474
Natural variant14401K → Q in NF1. Ref.46
Corresponds to variant rs199474790 [ dbSNP | Ensembl ].
VAR_010997
Natural variant14401K → R in NF1. Ref.41
Corresponds to variant rs199474788 [ dbSNP | Ensembl ].
VAR_002658
Natural variant14441K → E in NF1 and NFNS; significant reduction of intrinsic GAP activity. Ref.37 Ref.46 Ref.60 Ref.70
Corresponds to variant rs137854550 [ dbSNP | Ensembl ].
VAR_002659
Natural variant14441K → N in NF1. Ref.63 Ref.66
Corresponds to variant rs199474750 [ dbSNP | Ensembl ].
VAR_021757
Natural variant14441K → R in NF1. Ref.59
Corresponds to variant rs199474781 [ dbSNP | Ensembl ].
VAR_021758
Natural variant14461L → P in NF1. Ref.53 Ref.54 Ref.55
Corresponds to variant rs199474733 [ dbSNP | Ensembl ].
VAR_008129
Natural variant14511N → T in NFNS. Ref.70
Corresponds to variant rs199474754 [ dbSNP | Ensembl ].
VAR_032475
Natural variant14531V → L in NFNS. Ref.70
Corresponds to variant rs199474755 [ dbSNP | Ensembl ].
VAR_032476
Natural variant14591Missing in NFNS. Ref.61 Ref.67 Ref.70
VAR_032477
Natural variant14841S → F in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. Ref.73
Corresponds to variant rs199474772 [ dbSNP | Ensembl ].
VAR_067206
Natural variant14891S → G in NF1. Ref.46 Ref.67
Corresponds to variant rs199474743 [ dbSNP | Ensembl ].
VAR_010998
Natural variant16051I → V in NF1; reduces protein stability. Ref.36 Ref.54
Corresponds to variant rs199474766 [ dbSNP | Ensembl ].
VAR_021759
Natural variant16111R → W in NF1. Ref.49
VAR_002660
Natural variant17331L → LGHEQQKLPAATLAL in NF1.
VAR_002661
Natural variant17851A → S in NF1. Ref.59
Corresponds to variant rs199474782 [ dbSNP | Ensembl ].
VAR_021760
Natural variant19511P → L in a colorectal cancer sample; somatic mutation. Ref.71
VAR_035544
Natural variant19521W → R in NF1. Ref.48
Corresponds to variant rs199474791 [ dbSNP | Ensembl ].
VAR_002662
Natural variant19531L → P in NF1. Ref.10
Corresponds to variant rs199474792 [ dbSNP | Ensembl ].
VAR_002663
Natural variant19531Missing in NF1. Ref.63 Ref.66
VAR_021761
Natural variant20011G → R in NF1. Ref.63 Ref.66
Corresponds to variant rs199474751 [ dbSNP | Ensembl ].
VAR_021762
Natural variant20121D → N in NF1. Ref.59
Corresponds to variant rs199474783 [ dbSNP | Ensembl ].
VAR_021763
Natural variant20881L → P in FSNF; null mutation; 50% reduction of protein level; no cafe-au-lait macules. Ref.58
Corresponds to variant rs137854561 [ dbSNP | Ensembl ].
VAR_017669
Natural variant21641L → M in NF1. Ref.38
Corresponds to variant rs137854551 [ dbSNP | Ensembl ].
VAR_002664
Natural variant21921Y → N in NF1. Ref.38
VAR_002665
Natural variant22211P → A in NF1. Ref.64
Corresponds to variant rs199474776 [ dbSNP | Ensembl ].
VAR_021764
Natural variant23571E → K in NF1. Ref.59
Corresponds to variant rs199474784 [ dbSNP | Ensembl ].
VAR_021765
Natural variant2387 – 23882Missing in NF1.
VAR_002666
Natural variant25071T → I in NF1. Ref.54
Corresponds to variant rs149055633 [ dbSNP | Ensembl ].
VAR_021766
Natural variant25111V → L. Ref.7
Corresponds to variant rs2230850 [ dbSNP | Ensembl ].
VAR_022257
Natural variant26311T → A in NF1. Ref.43
Corresponds to variant rs199474793 [ dbSNP | Ensembl ].
VAR_002667
Natural variant27451G → R in a breast cancer sample; somatic mutation. Ref.71
VAR_035545

Experimental info

Mutagenesis16911K → A: Reduces phospholipid binding; when associated with A-1695; A-1769 and A-1771. Ref.34
Mutagenesis16951R → A: Reduces phospholipid binding; when associated with A-1691; A-1769 and A-1771. Ref.34
Mutagenesis17691R → A: Reduces phospholipid binding; when associated with A-1691; A-1695 and A-1771. Ref.34
Mutagenesis17711K → A: Reduces phospholipid binding; when associated with A-1691; A-169 and A-1769. Ref.34 Ref.36
Mutagenesis17711Missing: Reduces protein stability. Ref.34 Ref.36
Sequence conflict4961M → I in AAA74897. Ref.11
Sequence conflict4961M → I in AAB59558. Ref.11
Sequence conflict1094 – 10952EL → ST in AAA59923. Ref.14
Sequence conflict15761H → HH in AAA74897. Ref.11
Sequence conflict15761H → HH in AAB59558. Ref.11

Secondary structure

.......................................................................................................... 2839
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 (Type II) [UniParc].

Last modified June 1, 1994. Version 2.
Checksum: C079475139DBD51E

FASTA2,839319,372
        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 

« Hide

Isoform 1 (Type I) [UniParc].

Checksum: 7E5B89158317C56C
Show »

FASTA2,818317,033
Isoform 3 [UniParc].

Checksum: D783EC85BCE926D7
Show »

FASTA55162,300
Isoform 4 [UniParc].

Checksum: F76BC6C54FC08C8C
Show »

FASTA1,598180,213
Isoform 5 [UniParc].

Checksum: 9ECE9DBD67A10A16
Show »

FASTA59367,543
Isoform 6 [UniParc].

Checksum: 3D265EB28B8F8282
Show »

FASTA2,836318,992

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), ALTERNATIVE SPLICING.
Tissue: Placenta.
[6]"Evidence for the presence of two amino-terminal isoforms of neurofibromin, a gene product responsible for neurofibromatosis type 1."
Suzuki H., Takahashi K., Shibahara S.
Tohoku J. Exp. Med. 175:225-233(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5).
Tissue: Kidney.
[7]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.
[8]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 335-2839 (ISOFORM 1), VARIANT NF1 PRO-1953.
[11]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 335-2839 (ISOFORMS 1 AND 6).
[12]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 707-782.
[13]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 751-1611 (ISOFORMS 1 AND 2).
[14]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1090-1598 (ISOFORM 4).
[15]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1168-1566 (ISOFORMS 1 AND 2).
[16]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1371-1391 (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY.
[17]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1371-1391 (ISOFORM 2).
[18]"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] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[19]"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] [Europe PMC] [Abstract]
Cited for: RNA EDITING.
[20]"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] [Europe PMC] [Abstract]
Cited for: RNA EDITING.
[21]"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] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS.
[22]"Molecular genetics of neurofibromatosis type 1 (NF1)."
Shen M.H., Harper P.S., Upadhyaya M.
J. Med. Genet. 33:2-17(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS.
[23]"Neurofibromin is actively transported to the nucleus."
Vandenbroucke I., Van Oostveldt P., Coene E., De Paepe A., Messiaen L.
FEBS Lett. 560:98-102(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, NUCLEAR LOCALIZATION SIGNAL.
[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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[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] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-864; SER-2188; SER-2515; SER-2521 AND SER-2543, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[27]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[28]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[29]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-864; SER-876 AND SER-2515, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[30]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-864 AND SER-2817, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[31]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[32]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2543 AND SER-2817, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[33]"Structural analysis of the GAP-related domain from neurofibromin and its implications."
Scheffzek K., Ahmadian M.R., Wiesmuller L., Kabsch W., Stege P., Schmitz F., Wittinghofer A.
EMBO J. 17:4313-4327(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.50 ANGSTROMS) OF 1198-1551.
[34]"A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein."
D'Angelo I., Welti S., Bonneau F., Scheffzek K.
EMBO Rep. 7:174-179(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.30 ANGSTROMS) OF 1581-1837, LIPID-BINDING, DOMAIN, MUTAGENESIS OF LYS-1691; ARG-1695; ARG-1769 AND LYS-1771.
[35]"The sec14 homology module of neurofibromin binds cellular glycerophospholipids: mass spectrometry and structure of a lipid complex."
Welti S., Fraterman S., D'Angelo I., Wilm M., Scheffzek K.
J. Mol. Biol. 366:551-562(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.50 ANGSTROMS) OF 1566-1837 IN COMPLEX WITH PHOSPHOLIPID, LIPID-BINDING, DOMAIN.
[36]"Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin."
Welti S., Kuhn S., D'Angelo I., Brugger B., Kaufmann D., Scheffzek K.
Hum. Mutat. 32:191-197(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.19 ANGSTROMS) OF 1581-1837 OF VARIANT NF1 VAL-1605 AND MUTANT LYS-1771 DEL IN COMPLEX WITH LIPID, CHARACTERIZATION OF VARIANT NF1 VAL-1605, MUTAGENESIS OF LYS-1771, LIPID-BINDING, DOMAIN.
[37]"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] [Europe PMC] [Abstract]
Cited for: VARIANT GLU-1444.
[38]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS NF1 MET-2164 AND ASN-2192.
[39]"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] [Europe PMC] [Abstract]
Cited for: VARIANT GLY-HIS-GLU-GLN-GLN-LYS-LEU-PRO-ALA-ALA-THR-LEU-ALA-LEU-1733 INS.
[40]"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] [Europe PMC] [Abstract]
Cited for: VARIANT MET-991 DEL.
[41]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS NF1 ASP-1166 AND ARG-1440.
[42]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 2387-ASN-PHE-2388 DEL.
[43]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 ALA-2631.
[44]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 ARG-629.
[45]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 ARG-1035.
[46]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS NF1 SER-1412; GLN-1440; GLU-1444 AND GLY-1489.
[47]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS NF1 ARG-844 AND PRO-898.
[48]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 ARG-1952.
[49]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS NF1 GLY-338 AND TRP-1611.
[50]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 PRO-1276.
[51]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 GLY-1204, VARIANT HIS-765.
[52]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 PRO-508.
[53]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 PRO-1446.
[54]"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] [Europe PMC] [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.
[55]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS NF1 SER-117; TRP-1204; PRO-1446 AND 2387-ASN-PHE-2388 DEL.
[56]Erratum
Ars E., Serra E., Garcia J., Kruyer H., Gaona A., Lazaro C., Estivill X.
Hum. Mol. Genet. 9:659-659(2000)
[57]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 PHE-844.
[58]"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] [Europe PMC] [Abstract]
Cited for: VARIANT SPINAL FSNF PRO-2088.
[59]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS NF1 LYS-780; CYS-784; PRO-1147; CYS-1193; ARG-1444; SER-1785; ASN-2012 AND LYS-2357.
[60]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS NF1 PHE-82; ARG-784 AND GLU-1444.
[61]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NFNS GLU-1459 DEL.
[62]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS NF1 TYR-93; VAL-604; ARG-844 AND PRO-898, VARIANTS ASP-74; GLU-176; ARG-712 AND GLN-1276.
[63]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS NF1 LYS-780; PRO-847; GLU-848 AND ARG-968; ASN-1444; LEU-1953 DEL AND ARG-2001.
[64]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS NF1 ARG-578; PRO-920 AND ALA-2221.
[65]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 VAL-186, CHARACTERIZATION OF VARIANT NF1 VAL-186.
[66]"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] [Europe PMC] [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.
[67]"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] [Europe PMC] [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; MET-991 DEL; VAL-1073; ARG-1196; GLY-1276; GLN-1276; GLU-1430; GLU-1459 DEL AND GLY-1489, VARIANTS GLU-176 AND CYS-873.
[68]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 PRO-1243.
[69]"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] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 ARG-844.
[70]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS NFNS ARG-194; GLU-1444; THR-1451; LEU-1453 AND GLU-1459 DEL.
[71]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ILE-1187; LEU-1951 AND ARG-2745.
[72]"Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1."
Nystrom A.M., Ekvall S., Allanson J., Edeby C., Elinder M., Holmstrom G., Bondeson M.L., Anneren G.
Clin. Genet. 76:524-534(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NFNS PHE-1411.
[73]"Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas."
Thomas L., Spurlock G., Eudall C., Thomas N.S., Mort M., Hamby S.E., Chuzhanova N., Brems H., Legius E., Cooper D.N., Upadhyaya M.
Eur. J. Hum. Genet. 20:411-419(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GLU-176; THR-330; ASP-393; LEU-393; PRO-519; THR-776 AND PHE-1484.
[74]"Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas."
Ponti G., Losi L., Martorana D., Priola M., Boni E., Pollio A., Neri T.M., Seidenari S.
Hered. Cancer Clin. Pract. 9:6-6(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NF1 THR-160.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
D42072 mRNA. Translation: BAA07669.1.
AY796305 Genomic DNA. Translation: AAV50004.1.
AC004222 Genomic DNA. No translation available.
AC079915 Genomic DNA. No translation available.
AC134669 Genomic DNA. No translation available.
AC135724 Genomic DNA. No translation available.
AC138207 Genomic DNA. No translation available.
AC139072 Genomic DNA. No translation available.
CH471147 Genomic DNA. Translation: EAW80272.1.
CH471147 Genomic DNA. Translation: EAW80275.1.
AH000834 Genomic DNA. Translation: AAA18483.1.
Y07853 Genomic DNA. Translation: CAA69179.1.
U17690 expand/collapse EMBL AC list , U17680, U17681, U17682, U17683, U17684, U17685, U17686, U17687, U17688, U17689 Genomic DNA. Translation: AAB48380.1.
U17690 expand/collapse EMBL AC list , 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.
CCDSCCDS11264.1. [P21359-2]
CCDS42292.1. [P21359-1]
CCDS45645.1. [P21359-5]
PIRB55282.
I78852.
RefSeqNP_000258.1. NM_000267.3. [P21359-2]
NP_001035957.1. NM_001042492.2. [P21359-1]
NP_001121619.1. NM_001128147.2. [P21359-5]
UniGeneHs.113577.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1NF1X-ray2.50A1198-1551[»]
2D4QX-ray2.30A/B1581-1837[»]
2E2XX-ray2.50A/B1566-1837[»]
3P7ZX-ray2.65A/B1566-1837[»]
3PEGX-ray2.52A1566-1837[»]
3PG7X-ray2.19A/B1581-1837[»]
ProteinModelPortalP21359.
SMRP21359. Positions 1206-1550, 1568-1837.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110836. 19 interactions.
IntActP21359. 12 interactions.
MINTMINT-1504522.
STRING9606.ENSP00000351015.

PTM databases

PhosphoSiteP21359.

Polymorphism databases

DMDM548350.

Proteomic databases

MaxQBP21359.
PaxDbP21359.
PRIDEP21359.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000356175; ENSP00000348498; ENSG00000196712. [P21359-2]
ENST00000358273; ENSP00000351015; ENSG00000196712. [P21359-1]
ENST00000431387; ENSP00000412921; ENSG00000196712. [P21359-5]
GeneID4763.
KEGGhsa:4763.
UCSCuc002hge.2. human. [P21359-3]
uc002hgf.2. human. [P21359-5]
uc002hgg.3. human. [P21359-1]
uc002hgh.3. human. [P21359-2]

Organism-specific databases

CTD4763.
GeneCardsGC17P029421.
GeneReviewsNF1.
HGNCHGNC:7765. NF1.
HPACAB004786.
HPA045502.
MIM114500. phenotype.
162200. phenotype.
162210. phenotype.
193520. phenotype.
601321. phenotype.
607785. phenotype.
613113. gene.
neXtProtNX_P21359.
Orphanet97685. 17q11 microdeletion syndrome.
139474. 17q11.2 microduplication syndrome.
86834. Juvenile myelomonocytic leukemia.
363700. Neurofibromatosis type 1 due to NF1mutation or intragenic deletion.
648. Noonan syndrome.
3444. Watson syndrome.
PharmGKBPA31572.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5261.
HOGENOMHOG000047020.
HOVERGENHBG006486.
InParanoidP21359.
KOK08052.
OMAIDFTHTC.
OrthoDBEOG74J96W.
PhylomeDBP21359.
TreeFamTF300302.

Enzyme and pathway databases

SignaLinkP21359.

Gene expression databases

ArrayExpressP21359.
BgeeP21359.
CleanExHS_NF1.
GenevestigatorP21359.

Family and domain databases

Gene3D1.25.10.10. 6 hits.
InterProIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR001251. CRAL-TRIO_dom.
IPR028553. Neurofibromin.
IPR001936. RasGAP.
IPR023152. RasGAP_CS.
IPR008936. Rho_GTPase_activation_prot.
[Graphical view]
PANTHERPTHR10194:SF60. PTHR10194:SF60. 1 hit.
PfamPF13716. CRAL_TRIO_2. 1 hit.
PF00616. RasGAP. 1 hit.
[Graphical view]
SMARTSM00323. RasGAP. 1 hit.
SM00516. SEC14. 1 hit.
[Graphical view]
SUPFAMSSF48350. SSF48350. 1 hit.
SSF48371. SSF48371. 11 hits.
PROSITEPS50191. CRAL_TRIO. 1 hit.
PS00509. RAS_GTPASE_ACTIV_1. 1 hit.
PS50018. RAS_GTPASE_ACTIV_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNF1. human.
EvolutionaryTraceP21359.
GeneWikiNeurofibromin_1.
GenomeRNAi4763.
NextBio18348.
PROP21359.
SOURCESearch...

Entry information

Entry nameNF1_HUMAN
AccessionPrimary (citable) accession number: P21359
Secondary accession number(s): O00662 expand/collapse secondary AC list , Q14284, Q14930, Q14931, Q9UMK3
Entry history
Integrated into UniProtKB/Swiss-Prot: May 1, 1991
Last sequence update: June 1, 1994
Last modified: July 9, 2014
This is version 179 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM