TMEM127

Protein identityUniProt · HPA

UniProt accession

O75204

Gene

TMEM127

Ensembl

ENSG00000135956

Chromosome

2

Canonical length

238 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a transmembrane protein with four 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 2022]

Canonical amino-acid sequenceUniProt

238 residues, UniProt reviewed canonical sequence.

>O75204|TMEM127
     1  MYAPGGAGLP GGRRRRSPGG SALPKQPERS LASALPGALS ITALCTALAE PAWLHIHGGT
    61  CSRQELGVSD VLGYVHPDLL KDFCMNPQTV LLLRVIAAFC FLGILCSLSA FLLDVFGPKH
   121  PALKITRRYA FAHILTVLQC ATVIGFSYWA SELILAQQQQ HKKYHGSQVY VTFAVSFYLV
   181  AGAGGASILA TAANLLRHYP TEEEEQALEL LSEMEENEPY PAEYEVINQF QPPPAYTP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM127 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

3

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

69 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM127.

Disease | AllUniProt

Conditions TMEM127 is implicated in, by any mechanism.

• Pheochromocytoma (PCC) MIM:171300

Disease | GeneticClinVar

123 pathogenic / likely-pathogenic of 1,155 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary pheochromocytoma and paraganglioma
• Hereditary cancer-predisposing syndrome
• Pheochromocytoma
• Pheochromocytoma, susceptibility to
• Inherited phaeochromocytoma and paraganglioma excluding NF1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.15

gnomAD pLI

0.01

gnomAD missense Z

0.45

DepMap mean gene effect

-0.23

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• endosome organization
• negative regulation of cell population proliferation
• negative regulation of TOR signaling
• regulation of TOR signaling

Molecular functions

• small GTPase binding

Cellular components

• cytoplasm
• early endosome
• membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Transmembrane protein 127
• Transmembrane protein 127, transmembrane region
• Transmembrane protein 127

KeywordsUniProt

• Acetylation
• Cell membrane
• Cytoplasm
• Membrane
• Phosphoprotein
• Transmembrane
• Transmembrane helix
• Tumor suppressor