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    ARHGEF10 Rho guanine nucleotide exchange factor 10 [ Homo sapiens (human) ]

    Gene ID: 9639, updated on 5-Nov-2017
    Official Symbol
    ARHGEF10provided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor 10provided by HGNC
    Primary source
    HGNC:HGNC:14103
    See related
    Ensembl:ENSG00000104728 MIM:608136; Vega:OTTHUMG00000163626
    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
    SNCV; GEF10
    Summary
    This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
    Orthologs
    Location:
    8p23.3
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (1823976..1958641)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (1772149..1906807)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377779 Neighboring gene microRNA 596 Neighboring gene uncharacterized LOC100131395 Neighboring gene uncharacterized LOC101928058 Neighboring gene KBTBD11 overlapping transcript 1 Neighboring gene kelch repeat and BTB domain containing 11 Neighboring gene myomesin 2 Neighboring gene microRNA 7160

    • 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?

    Associated conditions

    Description Tests
    Slowed nerve conduction velocity, autosomal dominant
    MedGen: C1842357 OMIM: 608236 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of brain lesion distribution in multiple sclerosis.
    NHGRI GWA Catalog
    Genome-wide association study of selenium concentrations.
    NHGRI GWA Catalog
    • 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

    Clone Names

    • MGC131664, DKFZp686H0726

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rho guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kinesin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome duplication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    myelination in peripheral nervous system IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    rho guanine nucleotide exchange factor 10
    Names
    Rho guanine nucleotide exchange factor (GEF) 10

    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_008480.1 RefSeqGene

      Range
      5001..139659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_234

    mRNA and Protein(s)

    1. NM_001308152.1NP_001295081.1  rho guanine nucleotide exchange factor 10 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA758332, AB002292, AC019257, BC112926
      Consensus CDS
      CCDS78297.1
      UniProtKB/Swiss-Prot
      O15013
      Related
      ENSP00000427909.1, OTTHUMP00000224479, ENST00000520359.5, OTTHUMT00000374590
      Conserved Domains (2) summary
      pfam00621
      Location:366544
      RhoGEF; RhoGEF domain
      cl17171
      Location:576640
      PH-like; Pleckstrin homology-like domain
    2. NM_001308153.1NP_001295082.1  rho guanine nucleotide exchange factor 10 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, and contains an alternate exon in the 5' UTR and 5' coding region, which results in the use of an alternate start codon compared to variant 1. The encoded isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AA758332, AB002292, AC019257, BC112926, CR749570
      Consensus CDS
      CCDS78296.1
      UniProtKB/Swiss-Prot
      O15013
      Related
      ENSP00000431012.1, OTTHUMP00000224480, ENST00000518288.5, OTTHUMT00000374591
      Conserved Domains (2) summary
      pfam00621
      Location:429606
      RhoGEF; RhoGEF domain
      cl17171
      Location:638702
      PH-like; Pleckstrin homology-like domain
    3. NM_014629.3NP_055444.2  rho guanine nucleotide exchange factor 10 isoform 1

      See identical proteins and their annotated locations for NP_055444.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (1).
      Source sequence(s)
      AA758332, AB002292, AC019257, AI348138, CN307765
      Consensus CDS
      CCDS34794.1
      UniProtKB/Swiss-Prot
      O15013
      Related
      ENSP00000340297.3, OTTHUMP00000224478, ENST00000349830.7, OTTHUMT00000374589
      Conserved Domains (2) summary
      pfam00621
      Location:404582
      RhoGEF; RhoGEF domain
      cl17171
      Location:614678
      PH-like; Pleckstrin homology-like domain

    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_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      1823976..1958641
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266041.3XP_005266098.1  rho guanine nucleotide exchange factor 10 isoform X2

      See identical proteins and their annotated locations for XP_005266098.1

      Conserved Domains (2) summary
      pfam00621
      Location:405583
      RhoGEF; RhoGEF domain
      cl17171
      Location:615679
      PH-like; Pleckstrin homology-like domain
    2. XM_017014003.1XP_016869492.1  rho guanine nucleotide exchange factor 10 isoform X1

      UniProtKB/Swiss-Prot
      O15013
      Related
      ENSP00000381571.1, ENST00000398564.5
      Conserved Domains (2) summary
      pfam00621
      Location:429607
      RhoGEF; RhoGEF domain
      cl17171
      Location:639703
      PH-like; Pleckstrin homology-like domain
    3. XM_011534768.1XP_011533070.1  rho guanine nucleotide exchange factor 10 isoform X4

      See identical proteins and their annotated locations for XP_011533070.1

      Conserved Domains (2) summary
      pfam00621
      Location:405583
      RhoGEF; RhoGEF domain
      cl17171
      Location:615679
      PH-like; Pleckstrin homology-like domain
    4. XM_011534767.2XP_011533069.1  rho guanine nucleotide exchange factor 10 isoform X3

      See identical proteins and their annotated locations for XP_011533069.1

      Conserved Domains (2) summary
      pfam00621
      Location:365543
      RhoGEF; RhoGEF domain
      cl17171
      Location:575639
      PH-like; Pleckstrin homology-like domain
    5. XM_011534770.2XP_011533072.1  rho guanine nucleotide exchange factor 10 isoform X5

      See identical proteins and their annotated locations for XP_011533072.1

      Conserved Domains (2) summary
      pfam00621
      Location:405583
      RhoGEF; RhoGEF domain
      cl17171
      Location:615679
      PH-like; Pleckstrin homology-like domain

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187576.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      7352..142017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      1772104..1906332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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