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Protein

Transmembrane protein 127

Gene

TMEM127

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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

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

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

EuPathDBiHostDB:ENSG00000135956.8
HGNCiHGNC:26038 TMEM127
MIMi613403 gene
neXtProtiNX_O75204

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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 dbSNP:rs121908818EnsemblClinVar.1
Natural variantiVAR_07227470D → N in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs121908819EnsemblClinVar.1
Natural variantiVAR_07227573G → R in PCC. 1 PublicationCorresponds to variant dbSNP:rs121908820EnsemblClinVar.1
Natural variantiVAR_06359590V → M in PCC. 2 PublicationsCorresponds to variant dbSNP:rs121908823EnsemblClinVar.1
Natural variantiVAR_07227694R → W in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs121908824EnsemblClinVar.1
Natural variantiVAR_072277140C → R in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs121908827EnsemblClinVar.1
Natural variantiVAR_072278140C → Y in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs121908828EnsemblClinVar.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 Publication1
Modified residuei17PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO75204
MaxQBiO75204
PaxDbiO75204
PeptideAtlasiO75204
PRIDEiO75204
ProteomicsDBi49868

PTM databases

iPTMnetiO75204
PhosphoSitePlusiO75204

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000135956 Expressed in 220 organ(s), highest expression level in vagina
CleanExiHS_TMEM127
ExpressionAtlasiO75204 baseline and differential
GenevisibleiO75204 HS

Interactioni

GO - Molecular functioni

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
OMAiYCMNPQT
OrthoDBiEOG091G0WXT
PhylomeDBiO75204
TreeFamiTF328671

Family and domain databases

InterProiView protein in InterPro
IPR033331 TMEM127
PANTHERiPTHR28358 PTHR28358, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J4H2C9J4H2_HUMAN
Transmembrane protein 127
TMEM127
154Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07227353W → S in PCC. 1 PublicationCorresponds to variant dbSNP:rs121908818EnsemblClinVar.1
Natural variantiVAR_07227470D → N in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs121908819EnsemblClinVar.1
Natural variantiVAR_07227573G → R in PCC. 1 PublicationCorresponds to variant dbSNP:rs121908820EnsemblClinVar.1
Natural variantiVAR_06359590V → M in PCC. 2 PublicationsCorresponds to variant dbSNP:rs121908823EnsemblClinVar.1
Natural variantiVAR_07227694R → W in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs121908824EnsemblClinVar.1
Natural variantiVAR_072277140C → R in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs121908827EnsemblClinVar.1
Natural variantiVAR_072278140C → Y in PCC; localized diffusely within the cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs121908828EnsemblClinVar.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

Similar proteinsi

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

EPDiO75204
MaxQBiO75204
PaxDbiO75204
PeptideAtlasiO75204
PRIDEiO75204
ProteomicsDBi49868

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
EuPathDBiHostDB:ENSG00000135956.8
GeneCardsiTMEM127
HGNCiHGNC:26038 TMEM127
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
OMAiYCMNPQT
OrthoDBiEOG091G0WXT
PhylomeDBiO75204
TreeFamiTF328671

Miscellaneous databases

ChiTaRSiTMEM127 human
GenomeRNAii55654
PROiPR:O75204
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135956 Expressed in 220 organ(s), highest expression level in vagina
CleanExiHS_TMEM127
ExpressionAtlasiO75204 baseline and differential
GenevisibleiO75204 HS

Family and domain databases

InterProiView protein in InterPro
IPR033331 TMEM127
PANTHERiPTHR28358 PTHR28358, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTM127_HUMAN
AccessioniPrimary (citable) accession number: O75204
Secondary accession number(s): D3DXH0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: November 1, 1998
Last modified: November 7, 2018
This is version 121 of the entry and version 1 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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