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    NF1 neurofibromin 1 [ Homo sapiens (human) ]

    Gene ID: 4763, updated on 30-Jun-2015
    Official Symbol
    NF1provided by HGNC
    Official Full Name
    neurofibromin 1provided by HGNC
    Primary source
    HGNC: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]
    Orthologs
    Location:
    17q11.2
    Exon count:
    73
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (31007873..31377677)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29421945..29704695)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ArfGAP with dual PH domains 2 Neighboring gene ring finger protein 135 Neighboring gene divergent-paired related homeobox pseudogene 4 Neighboring gene leucine-rich repeat-containing protein 37A2-like Neighboring gene uncharacterized LOC105371722 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 uncharacterized LOC105371724 Neighboring gene adenylate kinase 4 pseudogene 1 Neighboring gene RAB11 family interacting protein 4 (class II) Neighboring gene uncharacterized LOC105371725

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    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)

    ClinGen Genome Curation Page
    Haploinsufficency

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

    ClinGen Genome Curation PagePubMed
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ21220, DKFZp686J1293

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
     
    cellular response to heat IEA
    Inferred from Electronic Annotation
    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 GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of 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 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
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Preferred Names
    neurofibromin
    Names
    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 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, OTTHUMP00000163772, ENST00000356175, OTTHUMT00000256352
      Conserved Domains (3) summary
      cd05130
      Location:11981530
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd00170
      Location:15601707
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    2. NM_001042492.2NP_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, OTTHUMP00000163771, ENST00000358273, OTTHUMT00000256351
      Conserved Domains (3) summary
      cd05130
      Location:11981551
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd00170
      Location:15811728
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    3. NM_001128147.2NP_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, OTTHUMP00000261007, ENST00000431387, OTTHUMT00000256353

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

      Range
      31007873..31377677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524853.1XP_011523155.1  

      See identical proteins and their annotated locations for XP_011523155.1

      Conserved Domains (4) summary
      cd05130
      Location:11951548
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11841554
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15781725
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    2. XM_011524856.1XP_011523158.1  

      See identical proteins and their annotated locations for XP_011523158.1

      Conserved Domains (4) summary
      cd05130
      Location:11951548
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11841554
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15781725
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    3. XM_006721923.2XP_006721986.1  

      See identical proteins and their annotated locations for XP_006721986.1

      Conserved Domains (4) summary
      cd05130
      Location:11951548
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11841554
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15781725
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    4. XM_011524855.1XP_011523157.1  

      See identical proteins and their annotated locations for XP_011523157.1

      Conserved Domains (4) summary
      cd05130
      Location:11951548
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11841554
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15781725
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    5. XM_011524854.1XP_011523156.1  

      See identical proteins and their annotated locations for XP_011523156.1

      Conserved Domains (4) summary
      cd05130
      Location:11951548
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11841554
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15781725
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    6. XM_006721922.1XP_006721985.1  

      Conserved Domains (3) summary
      cd05130
      Location:12081561
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd00170
      Location:15911738
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    7. XM_006721924.1XP_006721987.1  

      Conserved Domains (3) summary
      cd05130
      Location:12081561
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd00170
      Location:15911738
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    8. XM_011524857.1XP_011523159.1  

      Conserved Domains (4) summary
      cd05130
      Location:12081561
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11971567
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15911738
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    9. XM_006721925.1XP_006721988.1  

      Conserved Domains (3) summary
      cd05130
      Location:12081540
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd00170
      Location:15701717
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    10. XM_011524852.1XP_011523154.1  

      Conserved Domains (4) summary
      cd05130
      Location:12071560
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11961566
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15901737
      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:17371846
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    11. XM_005257983.1XP_005258040.1  

      Conserved Domains (3) summary
      cd05130
      Location:11981551
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd00170
      Location:15811728
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    12. XM_005257984.1XP_005258041.1  

      Conserved Domains (3) summary
      cd05130
      Location:11981530
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd00170
      Location:15601707
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    13. XM_006721926.2XP_006721989.1  

      See identical proteins and their annotated locations for XP_006721989.1

      Conserved Domains (3) summary
      cd05130
      Location:12081561
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd00170
      Location:15911738
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    14. XM_006721927.1XP_006721990.1  

      See identical proteins and their annotated locations for XP_006721990.1

      Conserved Domains (3) summary
      cd05130
      Location:12081561
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd00170
      Location:15911738
      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
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    15. XM_006721928.2XP_006721991.1  

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

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