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NF1 neurofibromin 1 [ Homo sapiens (human) ]

Gene ID: 4763, updated on 6-Sep-2021

Summary

Official Symbol
NF1provided by HGNC
Official Full Name
neurofibromin 1provided by HGNC
Primary source
HGNC:HGNC:7765
See related
Ensembl:ENSG00000196712 MIM:613113
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]
Expression
Ubiquitous expression in thyroid (RPKM 9.3), brain (RPKM 8.2) and 25 other tissues See more
Orthologs
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Genomic context

See NF1 in Genome Data Viewer
Location:
17q11.2
Exon count:
58
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (31094927..31377677)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29421945..29704695)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371722 Neighboring gene NF1 (neurofibromin 1) promoter region Neighboring gene microRNA 4733 Neighboring gene NF1 intron 1 Alu-mediated recombination region Neighboring gene NF1 intron 2 Alu-mediated recombination region Neighboring gene NF1 intron 3 Alu-mediated recombination region Neighboring gene NF1 intron 8 Alu-mediated recombination region Neighboring gene uncharacterized LOC101927057 Neighboring gene ecotropic viral integration site 2B Neighboring gene oligodendrocyte myelin glycoprotein Neighboring gene NF1 intron 50 Alu-mediated recombination region Neighboring gene ecotropic viral integration site 2A Neighboring gene adenylate kinase 4 pseudogene 1 Neighboring gene RAB11 family interacting protein 4 Neighboring gene uncharacterized LOC105371725 Neighboring gene RNA, 7SL, cytoplasmic 79, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cafe-au-lait macules with pulmonary stenosis
MedGen: C0553586 OMIM: 193520 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 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)

ClinGen Genome Curation Page
Haploinsufficency

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

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21220, DKFZp686J1293

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylcholine binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylethanolamine binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in Ras protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in Schwann cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in adrenal gland development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in camera-type eye morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell communication ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cerebral cortex development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in collagen fibril organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in extracellular matrix organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in forebrain astrocyte development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in forebrain morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in liver development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in metanephros development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in myelination in peripheral nervous system ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of MAP kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within negative regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of fibroblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of neuroblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in peripheral nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in phosphatidylinositol 3-kinase signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pigmentation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of adenylate cyclase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of blood vessel endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of bone resorption ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cell-matrix adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of glial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to hypoxia ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in smooth muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in spinal cord development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sympathetic nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in visual learning ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in wound healing ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in axon IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in dendrite IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane HDA PubMed 
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
neurofibromin
Names
neurofibromatosis 1
neurofibromatosis-related protein NF-1
truncated neurofibromin 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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 identical proteins and their annotated locations for 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
    ENSP00000348498.3, ENST00000356175.7
    Conserved Domains (4) summary
    cd05130
    Location:11981530
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    smart00323
    Location:11871536
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13313
    Location:17071816
    PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    pfam13716
    Location:15811707
    CRAL_TRIO_2; Divergent CRAL/TRIO domain
  2. NM_001042492.3NP_001035957.1  neurofibromin isoform 1

    See identical proteins and their annotated locations for 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
    ENSP00000351015.4, ENST00000358273.9
    Conserved Domains (4) summary
    cd05130
    Location:11981551
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    smart00323
    Location:11871557
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13313
    Location:17281837
    PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    pfam13716
    Location:16021728
    CRAL_TRIO_2; Divergent CRAL/TRIO domain
  3. NM_001128147.3NP_001121619.1  neurofibromin isoform 3

    See identical proteins and their annotated locations for 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
    ENSP00000412921.4, ENST00000431387.8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    31094927..31377677
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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