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

Gene ID: 9639, updated on 5-Aug-2018

Summary

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]
Expression
Broad expression in testis (RPKM 15.4), lung (RPKM 12.1) and 22 other tissues See more
Orthologs

Genomic context

See ARHGEF10 in Genome Data Viewer
Location:
8p23.3
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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 ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131664, DKFZp686H0726

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rho guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
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
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
rho guanine nucleotide exchange factor 10
Names
Rho guanine nucleotide exchange factor (GEF) 10

NCBI Reference Sequences (RefSeq)

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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005266041.4XP_005266098.1  rho guanine nucleotide exchange factor 10 isoform X1

    See identical proteins and their annotated locations for XP_005266098.1

    Conserved Domains (3) summary
    cd00160
    Location:398582
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    PTZ00441
    Location:3250
    PTZ00441; sporozoite surface protein 2 (SSP2); Provisional
    cl17171
    Location:615679
    PH-like; Pleckstrin homology-like domain
  2. XM_017014003.1XP_016869492.1  rho guanine nucleotide exchange factor 10 isoform X3

    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_024447335.1XP_024303103.1  rho guanine nucleotide exchange factor 10 isoform X2

    Conserved Domains (3) summary
    cd00160
    Location:426610
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    PTZ00441
    Location:27278
    PTZ00441; sporozoite surface protein 2 (SSP2); Provisional
    cl17171
    Location:643707
    PH-like; Pleckstrin homology-like domain
  4. XM_024447334.1XP_024303102.1  rho guanine nucleotide exchange factor 10 isoform X1

    Conserved Domains (3) summary
    cd00160
    Location:398582
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    PTZ00441
    Location:3250
    PTZ00441; sporozoite surface protein 2 (SSP2); Provisional
    cl17171
    Location:615679
    PH-like; Pleckstrin homology-like domain
  5. XM_011534768.1XP_011533070.1  rho guanine nucleotide exchange factor 10 isoform X5

    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
  6. XM_011534767.2XP_011533069.1  rho guanine nucleotide exchange factor 10 isoform X4

    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
  7. XM_011534770.2XP_011533072.1  rho guanine nucleotide exchange factor 10 isoform X6

    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.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187576.1 Reference GRCh38.p12 ALT_REF_LOCI_1

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