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NF1 neurofibromin 1 [ Homo sapiens (human) ]

Gene ID: 4763, updated on 16-Apr-2014
Official Symbol
NF1provided by HGNC
Official Full Name
neurofibromin 1provided by HGNC
Primary source
HGNC:7765
See related
Ensembl:ENSG00000196712; HPRD:01203; MIM:613113; Vega:OTTHUMG00000132871
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WSS; NFNS; VRNF
Summary
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]
Location :
17q11.2
Sequence :
Chromosome: 17; NC_000017.11 (31045488..31377677)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ring finger protein 135 Neighboring gene divergent-paired related homeobox pseudogene 4 Neighboring gene uncharacterized LOC646021 Neighboring gene leucine-rich repeat-containing protein 37A2-like Neighboring gene microRNA 4733 Neighboring gene uncharacterized LOC101927057 Neighboring gene ecotropic viral integration site 2B Neighboring gene oligodendrocyte myelin glycoprotein Neighboring gene ecotropic viral integration site 2A Neighboring gene adenylate kinase 4 pseudogene 1 Neighboring gene RAB11 family interacting protein 4 (class II) Neighboring gene microRNA 4724 Neighboring gene transfer RNA threonine 10 (anticodon CGU)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Caf -au-lait macules with pulmonary stenosis
OMIM: 193520GeneReviews: Not available
Caf-au-lait macules with pulmonary stenosis
MedGen: C0553586 GeneReviews: Not available
Compare labs
Juvenile myelomonocytic leukemia
MedGen: C0349639 OMIM: 607785 GeneReviews: Not available
Compare labs
Neurofibromatosis, familial spinal
MedGen: C1834235 OMIM: 162210 GeneReviews: Not available
Compare labs
Neurofibromatosis, type 1
MedGen: C0027831 OMIM: 162200 GeneReviews: Neurofibromatosis 1
Compare labs
Neurofibromatosis-Noonan syndrome
MedGen: C2931482 OMIM: 601321 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-12)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-12)

ISCA Genome Curation PagePubMed
  • ATF-2 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    ATF-2 transcription factor network, organism-specific biosystem
    ATF-2 transcription factor network
  • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
    FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
    FOXA2 and FOXA3 transcription factor networks
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • MAPK signaling pathway, organism-specific biosystem (from WikiPathways)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
    Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
  • Syndecan-2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    Syndecan-2-mediated signaling events, organism-specific biosystem
    Syndecan-2-mediated signaling events
  • pilocytic astrocytoma, organism-specific biosystem (from WikiPathways)
    pilocytic astrocytoma, organism-specific biosystemIn this pathway shows the signaling in the development and behavior of the disease. receptor tyrosine kinase(rtk) is expressed in tumor endothelial cells of adult glioblastomas.NF1 and BRAF genes in...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ras GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylethanolamine binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
Ras protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
Schwann cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
adrenal gland development ISS
Inferred from Sequence or Structural Similarity
more info
 
artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
camera-type eye morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell communication ISS
Inferred from Sequence or Structural Similarity
more info
 
cerebral cortex development ISS
Inferred from Sequence or Structural Similarity
more info
 
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
collagen fibril organization ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix organization ISS
Inferred from Sequence or Structural Similarity
more info
 
extrinsic apoptotic signaling pathway via death domain receptors IEA
Inferred from Electronic Annotation
more info
 
forebrain astrocyte development ISS
Inferred from Sequence or Structural Similarity
more info
 
forebrain morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
liver development ISS
Inferred from Sequence or Structural Similarity
more info
 
metanephros development ISS
Inferred from Sequence or Structural Similarity
more info
 
myelination in peripheral nervous system ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of MAP kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of Rac protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of astrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of fibroblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuroblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of osteoclast differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription factor import into nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
neural tube development IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
peripheral nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol 3-kinase signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
pigmentation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of Ras GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of Ras GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of Ras GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of adenylate cyclase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
 
positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of Ras GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of blood vessel endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of bone resorption ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell-matrix adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of glial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of long-term neuronal synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic transmission, GABAergic IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
smooth muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
spinal cord development ISS
Inferred from Sequence or Structural Similarity
more info
 
sympathetic nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
visual learning ISS
Inferred from Sequence or Structural Similarity
more info
 
wound healing ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
axon IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
dendrite IDA
Inferred from Direct Assay
more info
PubMed 
intrinsic component of the cytoplasmic side of the plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Preferred Names
neurofibromin
Names
neurofibromin
neurofibromatosis-related protein NF-1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009018.1 RefSeqGene

    Range
    4951..287701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_214

mRNA and Protein(s)

  1. NM_000267.3NP_000258.1  neurofibromin isoform 2

    See proteins identical to NP_000258.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon compared to transcript variant 1, resulting in a shorter isoform (2) missing an internal 21 aa segment, compared to isoform 1.
    Source sequence(s)
    AC135724, AK026658, CN415204, D12625, M82814
    Consensus CDS
    CCDS11264.1
    UniProtKB/Swiss-Prot
    P21359
    Related
    ENSP00000348498, OTTHUMP00000163772, ENST00000356175, OTTHUMT00000256352
    Conserved Domains (3) summary
    cd05130
    Location:11981530
    Blast Score: 1742
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    cd00170
    Location:15601707
    Blast Score: 172
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    cd13313
    Location:17071816
    Blast Score: 568
    PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
  2. NM_001042492.2NP_001035957.1  neurofibromin isoform 1

    See proteins identical to NP_001035957.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), with an additional in-frame coding exon, represents the longest transcript and encodes the longest isoform (1). Studies suggest preferential C->U RNA editing of transcripts containing this exon.
    Source sequence(s)
    AC135724, AK026658, BP271334, BX391799, D12625, M89914
    Consensus CDS
    CCDS42292.1
    UniProtKB/Swiss-Prot
    P21359
    Related
    ENSP00000351015, OTTHUMP00000163771, ENST00000358273, OTTHUMT00000256351
    Conserved Domains (3) summary
    cd05130
    Location:11981551
    Blast Score: 1712
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    cd00170
    Location:15811728
    Blast Score: 171
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    cd13313
    Location:17281837
    Blast Score: 567
    PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
  3. NM_001128147.2NP_001121619.1  neurofibromin isoform 3

    See proteins identical to NP_001121619.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple 3' exons and has an alternate 3' end, as compared to variant 1. The resulting isoform (3) has a much shorter and different C-terminus, and lacks ras-GTPase activating domain and SEC14 domain, compared to isoform 1.
    Source sequence(s)
    D12625, D42072, M82814
    Consensus CDS
    CCDS45645.1
    UniProtKB/Swiss-Prot
    P21359
    Related
    ENSP00000412921, OTTHUMP00000261007, ENST00000431387, OTTHUMT00000256353

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11

    Range
    31045488..31377677
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721923.1XP_006721986.1  

    Conserved Domains (3) summary
    cd05130
    Location:11951548
    Blast Score: 1712
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    cd00170
    Location:15781725
    Blast Score: 171
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    cd13313
    Location:17251834
    Blast Score: 568
    PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
  2. XM_006721922.1XP_006721985.1  

    Conserved Domains (3) summary
    cd05130
    Location:12081561
    Blast Score: 1712
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    cd00170
    Location:15911738
    Blast Score: 171
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    cd13313
    Location:17381847
    Blast Score: 568
    PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
  3. XM_006721924.1XP_006721987.1  

    Conserved Domains (3) summary
    cd05130
    Location:12081561
    Blast Score: 1713
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    cd00170
    Location:15911738
    Blast Score: 171
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    cd13313
    Location:17381847
    Blast Score: 567
    PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
  4. XM_006721925.1XP_006721988.1  

    Conserved Domains (3) summary
    cd05130
    Location:12081540
    Blast Score: 1741
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    cd00170
    Location:15701717
    Blast Score: 171
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    cd13313
    Location:17171826
    Blast Score: 568
    PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
  5. XM_005257983.1XP_005258040.1  

    Conserved Domains (3) summary
    cd05130
    Location:11981551
    Blast Score: 1712
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    cd00170
    Location:15811728
    Blast Score: 171
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    cd13313
    Location:17281837
    Blast Score: 568
    PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
  6. XM_005257984.1XP_005258041.1  

    Conserved Domains (3) summary
    cd05130
    Location:11981530
    Blast Score: 1740
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    cd00170
    Location:15601707
    Blast Score: 171
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    cd13313
    Location:17071816
    Blast Score: 568
    PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
  7. XM_006721926.1XP_006721989.1  

    See proteins identical to XP_006721989.1

    Conserved Domains (3) summary
    cd05130
    Location:12081561
    Blast Score: 1710
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    cd00170
    Location:15911738
    Blast Score: 171
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    cd13313
    Location:17381847
    Blast Score: 568
    PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
  8. XM_006721927.1XP_006721990.1  

    See proteins identical to XP_006721990.1

    Conserved Domains (3) summary
    cd05130
    Location:12081561
    Blast Score: 1710
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    cd00170
    Location:15911738
    Blast Score: 171
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    cd13313
    Location:17381847
    Blast Score: 568
    PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
  9. XM_006721928.1XP_006721991.1  

    Conserved Domains (1) summary
    cd05130
    Location:12081561
    Blast Score: 1706
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin

Alternate HuRef

Genomic

  1. AC_000149.1 Alternate HuRef

    Range
    25632559..25915183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    29485166..29767533
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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