Human Gene ARHGEF10 (ENST00000616718.1) Description and Page Index
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt E9PB39)
RefSeq Summary (NM_001308152): 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].
Gencode Transcript: ENST00000616718.1
Gencode Gene: ENSG00000274726.4
Transcript (Including UTRs)
   Position: hg38 chr8_KI270821v1_alt:42,131-87,472 Size: 45,342 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr8_KI270821v1_alt:49,972-86,881 Size: 36,910 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8_KI270821v1_alt:42,131-87,472)mRNA (may differ from genome)Protein (380 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: E9PB39_HUMAN
DESCRIPTION: SubName: Full=Rho guanine nucleotide exchange factor 10;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: ARHGEF10
Diseases sorted by gene-association score: slowed nerve conduction velocity, ad* (1700), ulnar neuropathy (17), adie pupil (11), uremic neuropathy (9), nerve compression syndrome (7), carpal tunnel syndrome, familial (7), mental retardation, x-linked, syndromic 13 (7), mononeuropathy (6), charcot-marie-tooth disease, type 1e (4), charcot-marie-tooth disease (2), peripheral nervous system disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -171.20487-0.352 Picture PostScript Text
3' UTR -183.40591-0.310 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000219 - DH-domain

Pfam Domains:
PF00621 - RhoGEF domain

ModBase Predicted Comparative 3D Structure on E9PB39
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005089 Rho guanyl-nucleotide exchange factor activity

Biological Process:
GO:0022011 myelination in peripheral nervous system
GO:0035023 regulation of Rho protein signal transduction
GO:0090307 mitotic spindle assembly

Cellular Component:
GO:0005813 centrosome
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AB002292 - Homo sapiens mRNA for KIAA0294 gene.
BC112926 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10, mRNA (cDNA clone MGC:131664 IMAGE:6500770), complete cds.
CR749570 - Homo sapiens mRNA; cDNA DKFZp686H0726 (from clone DKFZp686H0726).
AB385304 - Synthetic construct DNA, clone: pF1KA0294, Homo sapiens ARHGEF10 gene for Rho guanine nucleotide exchange factor 10, complete cds, without stop codon, in Flexi system.
AF009205 - Homo sapiens clone L5 unknown mRNA, partial cds.
AK309799 - Homo sapiens cDNA, FLJ99840.
BC040474 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10, mRNA (cDNA clone IMAGE:4250879), complete cds.
AL137508 - Homo sapiens mRNA; cDNA DKFZp761P221 (from clone DKFZp761P221).
CU691882 - Synthetic construct Homo sapiens gateway clone IMAGE:100023025 5' read ARHGEF10 mRNA.
KJ902002 - Synthetic construct Homo sapiens clone ccsbBroadEn_11396 ARHGEF10 gene, encodes complete protein.
KR711460 - Synthetic construct Homo sapiens clone CCSBHm_00023969 ARHGEF10 (ARHGEF10) mRNA, encodes complete protein.
BC036809 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10, mRNA (cDNA clone IMAGE:5737598), complete cds.
JD429115 - Sequence 410139 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BC040474, E9PB39, E9PB39_HUMAN, uc064rsp.1
UCSC ID: uc064rsp.1
RefSeq Accession: NM_001308152
Protein: E9PB39

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.