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    NET1 neuroepithelial cell transforming 1 [ Homo sapiens (human) ]

    Gene ID: 10276, updated on 25-May-2017
    Official Symbol
    NET1provided by HGNC
    Official Full Name
    neuroepithelial cell transforming 1provided by HGNC
    Primary source
    HGNC:HGNC:14592
    See related
    Ensembl:ENSG00000173848 MIM:606450; Vega:OTTHUMG00000017596
    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
    NET1A; ARHGEF8
    Summary
    This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
    Orthologs
    Location:
    10p15.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (5412551..5459056)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5454514..5501019)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene urocortin 3 Neighboring gene tubulin alpha like 3 Neighboring gene calmodulin like 5 Neighboring gene CALML3 antisense RNA 1 Neighboring gene calmodulin like 3

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Apoptosis-related network due to altered Notch3 in ovarian cancer, organism-specific biosystem (from WikiPathways)
      Apoptosis-related network due to altered Notch3 in ovarian cancer, organism-specific biosystemResults of pathway analysis of apoptosis-related genes in OVCAR3 cells treated with Notch3 siRNA or control siRNA.
    • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
      Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
    • G alpha (12/13) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (12/13) signalling events, organism-specific biosystemThe G12/13 family is probably the least well characterized subtype, partly because G12/13 coupling is difficult to determine when compared with the other subtypes which predominantly rely on assay te...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • NRAGE signals death through JNK, organism-specific biosystem (from REACTOME)
      NRAGE signals death through JNK, organism-specific biosystemOnce bound by either NGF or proNGF, p75NTR interacts with NRAGE, thus leading to phosphorylation and activation of JUN Kinase (JNK). JNK controls apoptosis in two ways: it induces transcription of pr...
    • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of RhoA activity, organism-specific biosystem
      Regulation of RhoA activity
    • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
      Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
      p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP-Rho binding IEA
    Inferred from Electronic Annotation
    more info
     
    Rho guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to hydrogen peroxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    myoblast migration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    positive regulation of substrate adhesion-dependent cell spreading IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell growth NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    neuroepithelial cell-transforming gene 1 protein
    Names
    Rho guanine nucleotide exchange factor (GEF) 8
    guanine nucleotide regulatory protein (oncogene)
    neuroepithelioma transforming gene 1
    p65 Net1 proto-oncogene protein
    small GTP-binding protein regulator

    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_050652.1 RefSeqGene

      Range
      5001..51506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001047160.2NP_001040625.1  neuroepithelial cell-transforming gene 1 protein isoform 1

      See identical proteins and their annotated locations for NP_001040625.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL732437, BC053553, BQ024592, BU633004, CD722646, DC307907
      Consensus CDS
      CCDS41483.1
      UniProtKB/Swiss-Prot
      Q7Z628
      UniProtKB/TrEMBL
      Q5SQI5
      Related
      ENSP00000347134.4, OTTHUMP00000019002, ENST00000355029.8, OTTHUMT00000046553
      Conserved Domains (3) summary
      smart00325
      Location:178354
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13224
      Location:368502
      PH_Net1; Neuroepithelial cell transforming 1 Pleckstrin homology (PH) domain
      pfam00169
      Location:387501
      PH; PH domain
    2. NM_005863.4NP_005854.2  neuroepithelial cell-transforming gene 1 protein isoform 2

      See identical proteins and their annotated locations for NP_005854.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL732437, BC010285, BQ024592, BU633004, CD722646, DA727151
      Consensus CDS
      CCDS7067.1
      UniProtKB/Swiss-Prot
      Q7Z628
      UniProtKB/TrEMBL
      Q5SQI7
      Related
      ENSP00000369717.3, OTTHUMP00000019003, ENST00000380359.3, OTTHUMT00000046554
      Conserved Domains (3) summary
      smart00325
      Location:124300
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13224
      Location:314448
      PH_Net1; Neuroepithelial cell transforming 1 Pleckstrin homology (PH) domain
      pfam00169
      Location:333447
      PH; PH domain

    RNA

    1. NR_073040.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK304028, AL732437, BC010285, BQ024592, BU633004, CD722646, DA727151

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      5412551..5459056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      5454522..5500985
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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