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O75204

- TM127_HUMAN

UniProt

O75204 - TM127_HUMAN

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Protein

Transmembrane protein 127

Gene

TMEM127

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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 - Biological processi

  1. negative regulation of cell proliferation Source: UniProtKB
  2. 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 1 Publication; Multi-pass membrane protein 1 Publication. Cytoplasm 1 Publication
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.

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

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. 3 interactions.
STRINGi9606.ENSP00000258439.

Structurei

3D structure databases

ProteinModelPortaliO75204.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

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

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM127 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

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

Sequencei

Sequence statusi: Complete.

O75204 [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 varianti90 – 901V → M in a pheochromocytoma sample arising from adrenal medulla. 1 Publication
Corresponds to variant rs121908823 [ dbSNP | Ensembl ].
VAR_063595

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS2018.1.
RefSeqi NP_001180233.1. NM_001193304.2.
NP_060319.1. NM_017849.3.
UniGenei Hs.164303.
Hs.735706.

3D structure databases

ProteinModelPortali O75204.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120786. 3 interactions.
STRINGi 9606.ENSP00000258439.

PTM databases

PhosphoSitei O75204.

Proteomic databases

MaxQBi O75204.
PaxDbi O75204.
PRIDEi O75204.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000258439 ; ENSP00000258439 ; ENSG00000135956 .
ENST00000432959 ; ENSP00000416660 ; ENSG00000135956 .
GeneIDi 55654.
KEGGi hsa:55654.
UCSCi uc002svq.3. human.

Organism-specific databases

CTDi 55654.
GeneCardsi GC02M096916.
HGNCi HGNC:26038. TMEM127.
HPAi HPA042359.
MIMi 171300. phenotype.
613403. gene.
neXtProti NX_O75204.
Orphaneti 319276. Clear cell renal carcinoma.
29072. Hereditary pheochromocytoma-paraganglioma.
PharmGKBi PA143485647.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG27774.
GeneTreei ENSGT00390000005154.
HOGENOMi HOG000231823.
HOVERGENi HBG053128.
InParanoidi O75204.
OMAi AWLRIHG.
PhylomeDBi O75204.
TreeFami TF328671.

Miscellaneous databases

ChiTaRSi TMEM127. human.
GenomeRNAii 55654.
NextBioi 60367.
PROi O75204.
SOURCEi Search...

Gene expression databases

Bgeei O75204.
CleanExi HS_TMEM127.
ExpressionAtlasi O75204. baseline and differential.
Genevestigatori O75204.

Family and domain databases

ProtoNeti Search...

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 MET-90.
  8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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: October 29, 2014
This is version 93 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