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

Gene ID: 9639, updated on 8-May-2016
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 HPRD:09735; 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
Exon count:
31
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (1823983..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 uncharacterized LOC105377780

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
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
    Conserved Domains (2) summary
    cd00160
    Location:359543
    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.
    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
    Conserved Domains (2) summary
    cd00160
    Location:422605
    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.
    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, OTTHUMP00000224478, ENST00000349830, OTTHUMT00000374589
    Conserved Domains (2) summary
    cd00160
    Location:397581
    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.
    cl17171
    Location:614678
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    1823983..1958641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266042.1XP_005266099.1  

    Related
    ENSP00000427909, OTTHUMP00000224479, ENST00000520359, OTTHUMT00000374590
    Conserved Domains (2) summary
    cd00160
    Location:359543
    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.
    cl17171
    Location:576640
    PH-like; Pleckstrin homology-like domain
  2. XM_005266041.2XP_005266098.1  

    See identical proteins and their annotated locations for XP_005266098.1

    Conserved Domains (2) 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.
    cl17171
    Location:615679
    PH-like; Pleckstrin homology-like domain
  3. XM_011534769.1XP_011533071.1  

    See identical proteins and their annotated locations for XP_011533071.1

    Conserved Domains (2) summary
    cd00160
    Location:383567
    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.
    cl17171
    Location:600664
    PH-like; Pleckstrin homology-like domain
  4. XM_005266040.3XP_005266097.1  

    Related
    ENSP00000431012, OTTHUMP00000224480, ENST00000518288, OTTHUMT00000374591
    Conserved Domains (2) summary
    cd00160
    Location:422605
    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.
    cl17171
    Location:638702
    PH-like; Pleckstrin homology-like domain
  5. XM_011534768.1XP_011533070.1  

    See identical proteins and their annotated locations for XP_011533070.1

    Conserved Domains (2) 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.
    cl17171
    Location:615679
    PH-like; Pleckstrin homology-like domain
  6. XM_011534766.1XP_011533068.1  

    See identical proteins and their annotated locations for XP_011533068.1

    Conserved Domains (2) 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.
    cl17171
    Location:615679
    PH-like; Pleckstrin homology-like domain
  7. XM_011534767.1XP_011533069.1  

    See identical proteins and their annotated locations for XP_011533069.1

    Conserved Domains (2) summary
    cd00160
    Location:358542
    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.
    cl17171
    Location:575639
    PH-like; Pleckstrin homology-like domain
  8. XM_011534770.1XP_011533072.1  

    See identical proteins and their annotated locations for XP_011533072.1

    Conserved Domains (2) 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.
    cl17171
    Location:615679
    PH-like; Pleckstrin homology-like domain

Reference GRCh38.p2 ALT_REF_LOCI_1

Genomic

  1. NT_187576.1 Reference GRCh38.p2 ALT_REF_LOCI_1

    Range
    7359..142017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006725111.1XP_006725174.1  

    Conserved Domains (2) summary
    cd00160
    Location:359543
    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.
    cl17171
    Location:576640
    PH-like; Pleckstrin homology-like domain
  2. XM_006725107.2XP_006725170.1  

    See identical proteins and their annotated locations for XP_006725170.1

    Conserved Domains (2) 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.
    cl17171
    Location:615679
    PH-like; Pleckstrin homology-like domain
  3. XM_011546566.1XP_011544868.1  

    See identical proteins and their annotated locations for XP_011544868.1

    Conserved Domains (2) summary
    cd00160
    Location:383567
    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.
    cl17171
    Location:600664
    PH-like; Pleckstrin homology-like domain
  4. XM_006725106.2XP_006725169.1  

    Conserved Domains (2) summary
    cd00160
    Location:422605
    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.
    cl17171
    Location:638702
    PH-like; Pleckstrin homology-like domain
  5. XM_011546565.1XP_011544867.1  

    See identical proteins and their annotated locations for XP_011544867.1

    Conserved Domains (2) 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.
    cl17171
    Location:615679
    PH-like; Pleckstrin homology-like domain
  6. XM_011546563.1XP_011544865.1  

    See identical proteins and their annotated locations for XP_011544865.1

    Conserved Domains (2) 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.
    cl17171
    Location:615679
    PH-like; Pleckstrin homology-like domain
  7. XM_011546564.1XP_011544866.1  

    See identical proteins and their annotated locations for XP_011544866.1

    Conserved Domains (2) summary
    cd00160
    Location:358542
    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.
    cl17171
    Location:575639
    PH-like; Pleckstrin homology-like domain
  8. XM_011546567.1XP_011544869.1  

    See identical proteins and their annotated locations for XP_011544869.1

    Conserved Domains (2) 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.
    cl17171
    Location:615679
    PH-like; Pleckstrin homology-like domain

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    1772111..1906332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)