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Q9NV29

- TM100_HUMAN

UniProt

Q9NV29 - TM100_HUMAN

Protein

Transmembrane protein 100

Gene

TMEM100

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

    Plays a role during embryonic arterial endothelium differentiation and vascular morphogenesis through the ACVRL1 receptor-dependent signaling pathway upon stimulation by bone morphogenetic proteins, such as GDF2/BMP9 and BMP10.By similarity

    GO - Biological processi

    1. angiogenesis Source: Ensembl
    2. arterial endothelial cell differentiation Source: Ensembl
    3. BMP signaling pathway Source: UniProtKB
    4. cellular response to BMP stimulus Source: UniProtKB
    5. in utero embryonic development Source: Ensembl
    6. Notch signaling pathway Source: Ensembl
    7. positive regulation of endothelial cell differentiation Source: UniProtKB
    8. positive regulation of vasculogenesis Source: UniProtKB
    9. protein kinase B signaling Source: Ensembl
    10. vasculogenesis Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation

    Enzyme and pathway databases

    SignaLinkiQ9NV29.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane protein 100
    Gene namesi
    Name:TMEM100
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:25607. TMEM100.

    Subcellular locationi

    Cell membrane; Multi-pass membrane protein. Membrane Curated; Multi-pass membrane protein Curated. Perikaryon. Cytoplasmperinuclear region. Endoplasmic reticulum
    Note: Colocalized with HSPA5 in the endoplasmic reticulum (ER). Enriched in ER microsome. Colocalized with BMP4 in neural cell bodies and neural fibers of the enteric nervous system.

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. integral component of membrane Source: UniProtKB-KW
    3. perikaryon Source: UniProtKB
    4. perinuclear region of cytoplasm Source: UniProtKB
    5. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142670749.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 134134Transmembrane protein 100PRO_0000240846Add
    BLAST

    Proteomic databases

    PaxDbiQ9NV29.
    PRIDEiQ9NV29.

    PTM databases

    PhosphoSiteiQ9NV29.

    Expressioni

    Tissue specificityi

    Expressed in neurons of the myenteric and submucosal plexuses in the gastric body, jejunum and proximal colon. Expressed in arterial endothelial cells and neurons of the central nervous system and peripheral nervous system. Expressed in umbilical artery endothelial cells (at protein level).2 Publications

    Inductioni

    Up-regulated by GDF2/BMP9 and BMP10 (at protein level).1 Publication

    Gene expression databases

    ArrayExpressiQ9NV29.
    BgeeiQ9NV29.
    CleanExiHS_TMEM100.
    GenevestigatoriQ9NV29.

    Organism-specific databases

    HPAiHPA055936.

    Interactioni

    Protein-protein interaction databases

    BioGridi120561. 1 interaction.
    IntActiQ9NV29. 1 interaction.
    STRINGi9606.ENSP00000299377.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NV29.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei56 – 7621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei84 – 10421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG39851.
    HOGENOMiHOG000154600.
    HOVERGENiHBG054506.
    InParanoidiQ9NV29.
    OMAiPLVSECQ.
    OrthoDBiEOG7X9G9H.
    PhylomeDBiQ9NV29.
    TreeFamiTF332068.

    Family and domain databases

    InterProiIPR028068. PIRT.
    [Graphical view]
    PfamiPF15099. PIRT. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9NV29-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTEEPIKEIL GAPKAHMAAT MEKSPKSEVV ITTVPLVSEI QLMAATGGTE    50
    LSCYRCIIPF AVVVFIAGIV VTAVAYSFNS HGSIISIFGL VVLSSGLFLL 100
    ASSALCWKVR QRSKKAKRRE SQTALVANQR SLFA 134
    Length:134
    Mass (Da):14,386
    Last modified:June 27, 2006 - v2
    Checksum:i7F80C71D1D065245
    GO

    Sequence cautioni

    The sequence AC009837 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti133 – 1331F → S in BAA91931. (PubMed:14702039)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK001832 mRNA. Translation: BAA91931.1.
    AC009837 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94537.1.
    CH471109 Genomic DNA. Translation: EAW94538.1.
    CH471109 Genomic DNA. Translation: EAW94539.1.
    BC010128 mRNA. Translation: AAH10128.1.
    CCDSiCCDS11587.1.
    RefSeqiNP_001093110.1. NM_001099640.1.
    NP_060756.2. NM_018286.2.
    UniGeneiHs.173233.

    Genome annotation databases

    EnsembliENST00000424486; ENSP00000395328; ENSG00000166292.
    ENST00000575734; ENSP00000465638; ENSG00000166292.
    GeneIDi55273.
    KEGGihsa:55273.
    UCSCiuc002iuj.4. human.

    Polymorphism databases

    DMDMi109895209.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK001832 mRNA. Translation: BAA91931.1 .
    AC009837 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94537.1 .
    CH471109 Genomic DNA. Translation: EAW94538.1 .
    CH471109 Genomic DNA. Translation: EAW94539.1 .
    BC010128 mRNA. Translation: AAH10128.1 .
    CCDSi CCDS11587.1.
    RefSeqi NP_001093110.1. NM_001099640.1.
    NP_060756.2. NM_018286.2.
    UniGenei Hs.173233.

    3D structure databases

    ProteinModelPortali Q9NV29.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120561. 1 interaction.
    IntActi Q9NV29. 1 interaction.
    STRINGi 9606.ENSP00000299377.

    PTM databases

    PhosphoSitei Q9NV29.

    Polymorphism databases

    DMDMi 109895209.

    Proteomic databases

    PaxDbi Q9NV29.
    PRIDEi Q9NV29.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000424486 ; ENSP00000395328 ; ENSG00000166292 .
    ENST00000575734 ; ENSP00000465638 ; ENSG00000166292 .
    GeneIDi 55273.
    KEGGi hsa:55273.
    UCSCi uc002iuj.4. human.

    Organism-specific databases

    CTDi 55273.
    GeneCardsi GC17M053796.
    HGNCi HGNC:25607. TMEM100.
    HPAi HPA055936.
    neXtProti NX_Q9NV29.
    PharmGKBi PA142670749.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39851.
    HOGENOMi HOG000154600.
    HOVERGENi HBG054506.
    InParanoidi Q9NV29.
    OMAi PLVSECQ.
    OrthoDBi EOG7X9G9H.
    PhylomeDBi Q9NV29.
    TreeFami TF332068.

    Enzyme and pathway databases

    SignaLinki Q9NV29.

    Miscellaneous databases

    GenomeRNAii 55273.
    NextBioi 35532614.
    PROi Q9NV29.

    Gene expression databases

    ArrayExpressi Q9NV29.
    Bgeei Q9NV29.
    CleanExi HS_TMEM100.
    Genevestigatori Q9NV29.

    Family and domain databases

    InterProi IPR028068. PIRT.
    [Graphical view ]
    Pfami PF15099. PIRT. 1 hit.
    [Graphical view ]
    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].
      Tissue: Placenta.
    2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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.
    5. "Tmem100, an ALK1 receptor signaling-dependent gene essential for arterial endothelium differentiation and vascular morphogenesis."
      Somekawa S., Imagawa K., Hayashi H., Sakabe M., Ioka T., Sato G.E., Inada K., Iwamoto T., Mori T., Uemura S., Nakagawa O., Saito Y.
      Proc. Natl. Acad. Sci. U.S.A. 109:12064-12069(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION.
    6. "Distribution of TMEM100 in the mouse and human gastrointestinal tract--a novel marker of enteric nerves."
      Eisenman S.T., Gibbons S.J., Singh R.D., Bernard C.E., Wu J., Sarr M.G., Kendrick M.L., Larson D.W., Dozois E.J., Shen K.R., Farrugia G.
      Neuroscience 240:117-128(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiTM100_HUMAN
    AccessioniPrimary (citable) accession number: Q9NV29
    Secondary accession number(s): D3DTY7, I3L214, Q96FZ0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: June 27, 2006
    Last modified: October 1, 2014
    This is version 76 of the entry and version 2 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM

    External Data

    Dasty 3