Human Gene TMEM127 (ENST00000258439.8) from GENCODE V44
Description: Homo sapiens transmembrane protein 127 (TMEM127), transcript variant 1, mRNA. (from RefSeq NM_017849) RefSeq Summary (NM_017849): This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010]. Gencode Transcript: ENST00000258439.8 Gencode Gene: ENSG00000135956.9 Transcript (Including UTRs) Position: hg38 chr2:96,248,514-96,265,997 Size: 17,484 Total Exon Count: 4 Strand: - Coding Region Position: hg38 chr2:96,253,808-96,265,381 Size: 11,574 Coding Exon Count: 3
ID:TM127_HUMAN DESCRIPTION: RecName: Full=Transmembrane protein 127; FUNCTION: Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cytoplasm. Note=Association of TMEM127 with the cell membrane is enhanced by inhibition of endocytosis. In the cytoplasm, it colocalizes with markers of early endosomal structures, Golgi apparatus and lysosomes. TISSUE SPECIFICITY: Widely expressed. DISEASE: Defects in TMEM127 are a cause of susceptibility to pheochromocytoma (PCC) [MIM:171300]. A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. MISCELLANEOUS: Consistent with the observation that mTORC1 signaling regulates cell growth and size in many species, TMEM127 knockdown cells are larger and proliferate at higher rates compared to control cell lines. In contrast, cell proliferation is reduced in cells overexpressing TMEM127 (PubMed:20154675). SIMILARITY: Belongs to the TMEM127 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.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on O75204
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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.
Biological Process: GO:0007032 endosome organization GO:0008285 negative regulation of cell proliferation GO:0032006 regulation of TOR signaling GO:0032007 negative regulation of TOR signaling
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