TMEM127
entrez
55654
canonical
uniprot
O75204
canonical
ensembl
ENSG00000135956
resolver
ensp
ENSP00000258439
resolver
ensp
ENSP00000411810
resolver
ensp
ENSP00000416660
resolver
ensp
ENSP00000519053
resolver
ensp
ENSP00000519054
resolver
ensp
ENSP00000580972
resolver
ensp
ENSP00000580973
resolver
ensp
ENSP00000580974
resolver
ensp
ENSP00000609368
resolver
ensp
ENSP00000633898
resolver
enst
ENST00000258439
resolver
enst
ENST00000432959
resolver
enst
ENST00000435268
resolver
enst
ENST00000713752
resolver
enst
ENST00000713753
resolver
enst
ENST00000910913
resolver
enst
ENST00000910914
resolver
enst
ENST00000910915
resolver
enst
ENST00000939309
resolver
enst
ENST00000963839
resolver
genesymbol
TMEM127
resolver
hgnc
HGNC:26038
resolver
uniprot
C9J4H2
resolver
uniprot
D3DXH0
resolver
uniprot_entry
C9J4H2_HUMAN
resolver
uniprot_entry
TM127_HUMAN
resolver
uniprot_sec
D3DXH0
resolver
amino_acid_sequence
MYAPGGAGLPGGRRRRSPGGSALPKQPERSLASALPGALSITALCTALAEPAWLHIHGGTCSRQELGVSDVLGYVHPDLLKDFCMNPQTVLLLRVIAAFCFLGILCSLSAFLLDVFGPKHPALKITRRYAFAHILTVLQCATVIGFSYWASELILAQQQQHKKYHGSQVYVTFAVSFYLVAGAGGASILATAANLLRHYPTEEEEQALELLSEMEENEPYPAEYEVINQFQPPPAYTP
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:20154675, ECO:0000269|PubMed:21156949}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor. {ECO:0000269|PubMed:20154675}.
uniprot
proteins
mass_dalton
25842
uniprot
proteins
protein_family
TMEM127 family
uniprot
proteins
pubmed
10493829
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20154675
uniprot
proteins
pubmed
21156949
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25732826
uniprot
proteins
sequence_length
238
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20154675, ECO:0000269|PubMed:21156949}; Multi-pass membrane protein {ECO:0000269|PubMed:20154675}. Cytoplasm {ECO:0000269|PubMed:20154675, ECO:0000269|PubMed:21156949}. 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. {ECO:0000269|PubMed:20154675, ECO:0000269|PubMed:21156949}.
uniprot
proteins
transmembrane_region
TRANSMEM 96..116; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 130..150; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 169..189; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins