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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

  1. Rab GTPase binding Source: MGI

GO - Biological processi

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 127
Gene namesi
Name:TMEM127
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:26038. TMEM127.

Subcellular locationi

Cell membrane 2 Publications; Multi-pass membrane protein 1 Publication. Cytoplasm 2 Publications
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.2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei96 – 11621HelicalSequence AnalysisAdd
BLAST
Transmembranei130 – 15021HelicalSequence AnalysisAdd
BLAST
Transmembranei169 – 18921HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. early endosome Source: MGI
  3. integral component of membrane Source: UniProtKB-KW
  4. plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Pheochromocytoma2 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531W → S in PCC. 1 Publication
VAR_072273
Natural varianti70 – 701D → N in PCC; localized diffusely within the cytoplasm. 1 Publication
VAR_072274
Natural varianti73 – 731G → R in PCC. 1 Publication
VAR_072275
Natural varianti90 – 901V → M in PCC. 2 Publications
Corresponds to variant rs121908823 [ dbSNP | Ensembl ].
VAR_063595
Natural varianti94 – 941R → W in PCC; localized diffusely within the cytoplasm. 1 Publication
VAR_072276
Natural varianti140 – 1401C → R in PCC; localized diffusely within the cytoplasm. 1 Publication
VAR_072277
Natural varianti140 – 1401C → Y in PCC; localized diffusely within the cytoplasm. 1 Publication
VAR_072278

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 238238Transmembrane protein 127PRO_0000251718Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication
Modified residuei17 – 171Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiO75204.
PaxDbiO75204.
PRIDEiO75204.

PTM databases

PhosphoSiteiO75204.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiO75204.
CleanExiHS_TMEM127.
ExpressionAtlasiO75204. baseline and differential.
GenevestigatoriO75204.

Organism-specific databases

HPAiHPA042359.

Interactioni

Protein-protein interaction databases

BioGridi120786. 2 interactions.
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

eggNOGiNOG27774.
GeneTreeiENSGT00390000005154.
HOGENOMiHOG000231823.
HOVERGENiHBG053128.
InParanoidiO75204.
OMAiYCMNPQT.
PhylomeDBiO75204.
TreeFamiTF328671.

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531W → S in PCC. 1 Publication
VAR_072273
Natural varianti70 – 701D → N in PCC; localized diffusely within the cytoplasm. 1 Publication
VAR_072274
Natural varianti73 – 731G → R in PCC. 1 Publication
VAR_072275
Natural varianti90 – 901V → M in PCC. 2 Publications
Corresponds to variant rs121908823 [ dbSNP | Ensembl ].
VAR_063595
Natural varianti94 – 941R → W in PCC; localized diffusely within the cytoplasm. 1 Publication
VAR_072276
Natural varianti140 – 1401C → R in PCC; localized diffusely within the cytoplasm. 1 Publication
VAR_072277
Natural varianti140 – 1401C → Y in PCC; localized diffusely within the cytoplasm. 1 Publication
VAR_072278

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.3. 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. 2 interactions.
STRINGi9606.ENSP00000258439.

PTM databases

PhosphoSiteiO75204.

Proteomic databases

MaxQBiO75204.
PaxDbiO75204.
PRIDEiO75204.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258439; ENSP00000258439; ENSG00000135956.
ENST00000432959; ENSP00000416660; ENSG00000135956.
GeneIDi55654.
KEGGihsa:55654.
UCSCiuc002svq.3. human.

Organism-specific databases

CTDi55654.
GeneCardsiGC02M096916.
HGNCiHGNC:26038. TMEM127.
HPAiHPA042359.
MIMi171300. phenotype.
613403. gene.
neXtProtiNX_O75204.
Orphaneti319276. Clear cell renal carcinoma.
29072. Hereditary pheochromocytoma-paraganglioma.
PharmGKBiPA143485647.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG27774.
GeneTreeiENSGT00390000005154.
HOGENOMiHOG000231823.
HOVERGENiHBG053128.
InParanoidiO75204.
OMAiYCMNPQT.
PhylomeDBiO75204.
TreeFamiTF328671.

Miscellaneous databases

ChiTaRSiTMEM127. human.
GenomeRNAii55654.
NextBioi60367.
PROiO75204.
SOURCEiSearch...

Gene expression databases

BgeeiO75204.
CleanExiHS_TMEM127.
ExpressionAtlasiO75204. baseline and differential.
GenevestigatoriO75204.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Ovary and Testis.
  6. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-17, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INVOLVEMENT IN PHEOCHROMOCYTOMA, VARIANT PCC MET-90.
  8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: VARIANTS PCC SER-53; ASN-70; ARG-73; MET-90; TRP-94; ARG-140 AND TYR-140, CHARACTERIZATION OF VARIANTS ASN-70; TRP-94; ARG-140 AND TYR-140, SUBCELLULAR LOCATION.

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: March 4, 2015
This is version 96 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

External Data

Dasty 3

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 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.