Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Transmembrane protein 127

Gene

TMEM127

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor.1 Publication

GO - Molecular functioni

  • Rab GTPase binding Source: MGI

GO - Biological processi

  • endosome organization Source: Ensembl
  • negative regulation of cell proliferation Source: UniProtKB
  • negative regulation of TOR signaling Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000135956-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 127
Gene namesi
Name:TMEM127
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:26038. TMEM127.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei96 – 116HelicalSequence analysisAdd BLAST21
Transmembranei130 – 150HelicalSequence analysisAdd BLAST21
Transmembranei169 – 189HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • early endosome Source: MGI
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Pheochromocytoma (PCC)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:171300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07227353W → S in PCC. 1 PublicationCorresponds to variant rs121908818dbSNPEnsembl.1
Natural variantiVAR_07227470D → N in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant rs121908819dbSNPEnsembl.1
Natural variantiVAR_07227573G → R in PCC. 1 PublicationCorresponds to variant rs121908820dbSNPEnsembl.1
Natural variantiVAR_06359590V → M in PCC. 2 PublicationsCorresponds to variant rs121908823dbSNPEnsembl.1
Natural variantiVAR_07227694R → W in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant rs121908824dbSNPEnsembl.1
Natural variantiVAR_072277140C → R in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant rs121908827dbSNPEnsembl.1
Natural variantiVAR_072278140C → Y in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant rs121908828dbSNPEnsembl.1

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNETi55654.
MalaCardsiTMEM127.
MIMi171300. phenotype.
OpenTargetsiENSG00000135956.
Orphaneti319276. Clear cell renal carcinoma.
29072. Hereditary pheochromocytoma-paraganglioma.
PharmGKBiPA143485647.

Polymorphism and mutation databases

BioMutaiTMEM127.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002517181 – 238Transmembrane protein 127Add BLAST238

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei17PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiO75204.
PaxDbiO75204.
PeptideAtlasiO75204.
PRIDEiO75204.

PTM databases

iPTMnetiO75204.
PhosphoSitePlusiO75204.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000135956.
CleanExiHS_TMEM127.
ExpressionAtlasiO75204. baseline and differential.
GenevisibleiO75204. HS.

Organism-specific databases

HPAiHPA042359.

Interactioni

GO - Molecular functioni

  • Rab GTPase binding Source: MGI

Protein-protein interaction databases

BioGridi120786. 1 interactor.
STRINGi9606.ENSP00000258439.

Structurei

3D structure databases

ProteinModelPortaliO75204.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM127 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJHY. Eukaryota.
ENOG410XW58. LUCA.
GeneTreeiENSGT00390000005154.
HOGENOMiHOG000231823.
HOVERGENiHBG053128.
InParanoidiO75204.
OMAiMEETEPY.
OrthoDBiEOG091G0WXT.
PhylomeDBiO75204.
TreeFamiTF328671.

Family and domain databases

InterProiIPR033331. TMEM127.
[Graphical view]
PANTHERiPTHR28358. PTHR28358. 1 hit.

Sequencei

Sequence statusi: Complete.

O75204-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MYAPGGAGLP GGRRRRSPGG SALPKQPERS LASALPGALS ITALCTALAE
60 70 80 90 100
PAWLHIHGGT CSRQELGVSD VLGYVHPDLL KDFCMNPQTV LLLRVIAAFC
110 120 130 140 150
FLGILCSLSA FLLDVFGPKH PALKITRRYA FAHILTVLQC ATVIGFSYWA
160 170 180 190 200
SELILAQQQQ HKKYHGSQVY VTFAVSFYLV AGAGGASILA TAANLLRHYP
210 220 230
TEEEEQALEL LSEMEENEPY PAEYEVINQF QPPPAYTP
Length:238
Mass (Da):25,842
Last modified:November 1, 1998 - v1
Checksum:i9A351F13EA9C6865
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07227353W → S in PCC. 1 PublicationCorresponds to variant rs121908818dbSNPEnsembl.1
Natural variantiVAR_07227470D → N in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant rs121908819dbSNPEnsembl.1
Natural variantiVAR_07227573G → R in PCC. 1 PublicationCorresponds to variant rs121908820dbSNPEnsembl.1
Natural variantiVAR_06359590V → M in PCC. 2 PublicationsCorresponds to variant rs121908823dbSNPEnsembl.1
Natural variantiVAR_07227694R → W in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant rs121908824dbSNPEnsembl.1
Natural variantiVAR_072277140C → R in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant rs121908827dbSNPEnsembl.1
Natural variantiVAR_072278140C → Y in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant rs121908828dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000514 mRNA. Translation: BAA91220.1.
AC004020 Genomic DNA. Translation: AAC23494.1.
AC012307 Genomic DNA. Translation: AAY24224.1.
CH471207 Genomic DNA. Translation: EAW71376.1.
CH471207 Genomic DNA. Translation: EAW71377.1.
CH471207 Genomic DNA. Translation: EAW71378.1.
CH471207 Genomic DNA. Translation: EAW71379.1.
BC028575 mRNA. Translation: AAH28575.1.
BC039892 mRNA. Translation: AAH39892.1.
CCDSiCCDS2018.1.
RefSeqiNP_001180233.1. NM_001193304.2.
NP_060319.1. NM_017849.3.
UniGeneiHs.164303.
Hs.735706.

Genome annotation databases

EnsembliENST00000258439; ENSP00000258439; ENSG00000135956.
ENST00000432959; ENSP00000416660; ENSG00000135956.
GeneIDi55654.
KEGGihsa:55654.
UCSCiuc002svq.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000514 mRNA. Translation: BAA91220.1.
AC004020 Genomic DNA. Translation: AAC23494.1.
AC012307 Genomic DNA. Translation: AAY24224.1.
CH471207 Genomic DNA. Translation: EAW71376.1.
CH471207 Genomic DNA. Translation: EAW71377.1.
CH471207 Genomic DNA. Translation: EAW71378.1.
CH471207 Genomic DNA. Translation: EAW71379.1.
BC028575 mRNA. Translation: AAH28575.1.
BC039892 mRNA. Translation: AAH39892.1.
CCDSiCCDS2018.1.
RefSeqiNP_001180233.1. NM_001193304.2.
NP_060319.1. NM_017849.3.
UniGeneiHs.164303.
Hs.735706.

3D structure databases

ProteinModelPortaliO75204.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120786. 1 interactor.
STRINGi9606.ENSP00000258439.

PTM databases

iPTMnetiO75204.
PhosphoSitePlusiO75204.

Polymorphism and mutation databases

BioMutaiTMEM127.

Proteomic databases

MaxQBiO75204.
PaxDbiO75204.
PeptideAtlasiO75204.
PRIDEiO75204.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258439; ENSP00000258439; ENSG00000135956.
ENST00000432959; ENSP00000416660; ENSG00000135956.
GeneIDi55654.
KEGGihsa:55654.
UCSCiuc002svq.4. human.

Organism-specific databases

CTDi55654.
DisGeNETi55654.
GeneCardsiTMEM127.
HGNCiHGNC:26038. TMEM127.
HPAiHPA042359.
MalaCardsiTMEM127.
MIMi171300. phenotype.
613403. gene.
neXtProtiNX_O75204.
OpenTargetsiENSG00000135956.
Orphaneti319276. Clear cell renal carcinoma.
29072. Hereditary pheochromocytoma-paraganglioma.
PharmGKBiPA143485647.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJHY. Eukaryota.
ENOG410XW58. LUCA.
GeneTreeiENSGT00390000005154.
HOGENOMiHOG000231823.
HOVERGENiHBG053128.
InParanoidiO75204.
OMAiMEETEPY.
OrthoDBiEOG091G0WXT.
PhylomeDBiO75204.
TreeFamiTF328671.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000135956-MONOMER.

Miscellaneous databases

ChiTaRSiTMEM127. human.
GenomeRNAii55654.
PROiO75204.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135956.
CleanExiHS_TMEM127.
ExpressionAtlasiO75204. baseline and differential.
GenevisibleiO75204. HS.

Family and domain databases

InterProiIPR033331. TMEM127.
[Graphical view]
PANTHERiPTHR28358. PTHR28358. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiTM127_HUMAN
AccessioniPrimary (citable) accession number: O75204
Secondary accession number(s): D3DXH0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: November 1, 1998
Last modified: November 2, 2016
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

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).1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.