Human Gene TMEM185A (uc022cgl.1) Description and Page Index
Description: Homo sapiens transmembrane protein 185A (TMEM185A), transcript variant 1, mRNA. RefSeq Summary (NM_032508): The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013]. Transcript (Including UTRs) Position: hg19 chrX:148,678,216-148,713,487 Size: 35,272 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chrX:148,679,671-148,713,263 Size: 33,593 Coding Exon Count: 7
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: PF10269 - Transmembrane Fragile-X-F protein
ModBase Predicted Comparative 3D Structure on Q8NFB2
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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.