Human Gene ARHGEF10 (ENST00000398564.5) Description and Page Index
Description: May play a role in developmental myelination of peripheral nerves. (from UniProt O15013) RefSeq Summary (NM_001308153): 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: ENST00000398564.5 Gencode Gene: ENSG00000104728.16 Transcript (Including UTRs) Position: hg38 chr8:1,826,111-1,958,633 Size: 132,523 Total Exon Count: 29 Strand: + Coding Region Position: hg38 chr8:1,826,111-1,957,263 Size: 131,153 Coding Exon Count: 29
ID:ARHGA_HUMAN DESCRIPTION: RecName: Full=Rho guanine nucleotide exchange factor 10; FUNCTION: May play a role in developmental myelination of peripheral nerves. DISEASE: Defects in ARHGEF10 are the cause of slowed nerve conduction velocity (SNCV) [MIM:608236]. Affected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant. SIMILARITY: Contains 1 DH (DBL-homology) domain. SEQUENCE CAUTION: Sequence=AAH36809.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=AAH40474.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=BAA20754.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAH18365.1; Type=Erroneous termination; Positions=895; Note=Translated as Lys;
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.
ModBase Predicted Comparative 3D Structure on O15013
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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.