Human Gene RAB23 (ENST00000468148.6) Description and Page Index
Description: Homo sapiens RAB23, member RAS oncogene family (RAB23), transcript variant 1, mRNA. (from RefSeq NM_016277) RefSeq Summary (NM_016277): This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Gencode Transcript: ENST00000468148.6 Gencode Gene: ENSG00000112210.12 Transcript (Including UTRs) Position: hg38 chr6:57,186,992-57,222,307 Size: 35,316 Total Exon Count: 7 Strand: - Coding Region Position: hg38 chr6:57,190,461-57,210,380 Size: 19,920 Coding Exon Count: 6
ID:RAB23_HUMAN DESCRIPTION: RecName: Full=Ras-related protein Rab-23; Flags: Precursor; SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). DISEASE: Defects in RAB23 are the cause of acrocephalopolysyndactyly type 2 (ACPS2) [MIM:201000]. A syndrome characterized by craniosynostosis, polysyndactyly, obesity, and cardiac defects. SIMILARITY: Belongs to the small GTPase superfamily. Rab family.
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 Q9ULC3
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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.