Description: Homo sapiens gephyrin (GPHN), transcript variant 3, mRNA. (from RefSeq NM_001377514) RefSeq Summary (NM_001377514): This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000543237.5 Gencode Gene: ENSG00000171723.16 Transcript (Including UTRs) Position: hg38 chr14:66,508,504-67,181,023 Size: 672,520 Total Exon Count: 25 Strand: + Coding Region Position: hg38 chr14:66,508,528-67,180,937 Size: 672,410 Coding Exon Count: 25
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.
Pfam Domains: PF00994 - Probable molybdopterin binding domain PF03454 - MoeA C-terminal region (domain IV) PF03453 - MoeA N-terminal region (domain I and II)
ModBase Predicted Comparative 3D Structure on F5H039
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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.