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O75204

- TM127_HUMAN

UniProt

O75204 - TM127_HUMAN

Protein

Transmembrane protein 127

Gene

TMEM127

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    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

    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

    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.
    Orphaneti29072. 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

    ArrayExpressiO75204.
    BgeeiO75204.
    CleanExiHS_TMEM127.
    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.
    HOGENOMiHOG000231823.
    HOVERGENiHBG053128.
    InParanoidiO75204.
    OMAiAWLRIHG.
    PhylomeDBiO75204.
    TreeFamiTF328671.

    Sequencei

    Sequence statusi: Complete.

    O75204-1 [UniParc]FASTAAdd to Basket

    « Hide

    MYAPGGAGLP GGRRRRSPGG SALPKQPERS LASALPGALS ITALCTALAE    50
    PAWLHIHGGT CSRQELGVSD VLGYVHPDLL KDFCMNPQTV LLLRVIAAFC 100
    FLGILCSLSA FLLDVFGPKH PALKITRRYA FAHILTVLQC ATVIGFSYWA 150
    SELILAQQQQ HKKYHGSQVY VTFAVSFYLV AGAGGASILA TAANLLRHYP 200
    TEEEEQALEL LSEMEENEPY PAEYEVINQF QPPPAYTP 238
    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 29072. Hereditary pheochromocytoma-paraganglioma.
    PharmGKBi PA143485647.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG27774.
    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

    ArrayExpressi O75204.
    Bgeei O75204.
    CleanExi HS_TMEM127.
    Genevestigatori O75204.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    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 1, 2014
    This is version 92 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