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Protein basic information

LiverAtlas Protein ID

HuLPr50145

Uniprot ID

TM127_HUMAN

Uniprot Acc

O75204;D3DXH0;

Protein name

Transmembrane protein 127

Comment

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

Subcellular localization

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.

Gene name

transmembrane protein 127

Protein sequence

MYAPGGAGLPGGRRRRSPGGSALPKQPERSLASALPGALS ITALCTALAEPAWLHIHGGTCSRQELGVSDVLGYVHPDL LKDFCMNPQTVLLLRVIAAFCFLGILCSLSAFLLDVFGP KHPALKITRRYAFAHILTVLQCATVIGFSYWASELILAQ QQQHKKYHGSQVYVTFAVSFYLVAGAGGASILATAANLL RHYPTEEEEQALELLSEMEENEPYPAEYEVINQFQPPPAYTP

Database cross reference

RefSeq Protein accession:NP_001180233
RefSeq Protein gi:300934846

Ontology annotation

GO-C

GO:0005737; C:cytoplasm; IDA:UniProtKB. GO:0016021; C:integral to membrane; IEA:UniProtKB-KW. GO:0005886; C:plasma membrane; IDA:UniProtKB.

GO-P

GO:0008285; P:negative regulation of cell proliferation; IMP:UniProtKB. GO:0032007; P:negative regulation of TOR signaling cascade; IMP:UniProtKB.