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Q9NV29

- TM100_HUMAN

UniProt

Q9NV29 - TM100_HUMAN

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Protein

Transmembrane protein 100

Gene

TMEM100

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

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
Complete GO annotation...

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.

Topology

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

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
Complete GO annotation...

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

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...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39851.
GeneTreeiENSGT00390000018520.
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

        10         20         30         40         50
MTEEPIKEIL GAPKAHMAAT MEKSPKSEVV ITTVPLVSEI QLMAATGGTE
60 70 80 90 100
LSCYRCIIPF AVVVFIAGIV VTAVAYSFNS HGSIISIFGL VVLSSGLFLL
110 120 130
ASSALCWKVR QRSKKAKRRE SQTALVANQR SLFA
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. Curated

Experimental Info

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00390000018520.
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

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

« 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].
    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 29, 2014
This is version 77 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