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Q9NV29 (TM100_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 75. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (1) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane protein 100
Gene names
Name:TMEM100
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length134 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein Potential. 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. Ref.5 Ref.6

Tissue specificity

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). Ref.5 Ref.6

Induction

Up-regulated by GDF2/BMP9 and BMP10 (at protein level). Ref.5

Sequence caution

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

Ontologies

Keywords
   Biological processDifferentiation
   Cellular componentCell membrane
Cytoplasm
Endoplasmic reticulum
Membrane
   DomainTransmembrane
Transmembrane helix
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processBMP signaling pathway

Inferred from direct assay Ref.5. Source: UniProtKB

Notch signaling pathway

Inferred from electronic annotation. Source: Ensembl

angiogenesis

Inferred from electronic annotation. Source: Ensembl

arterial endothelial cell differentiation

Inferred from electronic annotation. Source: Ensembl

cellular response to BMP stimulus

Inferred from direct assay Ref.5. Source: UniProtKB

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

positive regulation of endothelial cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of vasculogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

protein kinase B signaling

Inferred from electronic annotation. Source: Ensembl

vasculogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentendoplasmic reticulum

Inferred from direct assay Ref.5. Source: UniProtKB

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

perikaryon

Inferred from direct assay Ref.6. Source: UniProtKB

perinuclear region of cytoplasm

Inferred from direct assay Ref.5. Source: UniProtKB

plasma membrane

Inferred from direct assay Ref.6. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 134134Transmembrane protein 100
PRO_0000240846

Regions

Transmembrane56 – 7621Helical; Potential
Transmembrane84 – 10421Helical; Potential

Experimental info

Sequence conflict1331F → S in BAA91931. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9NV29 [UniParc].

Last modified June 27, 2006. Version 2.
Checksum: 7F80C71D1D065245

FASTA13414,386
        10         20         30         40         50         60 
MTEEPIKEIL GAPKAHMAAT MEKSPKSEVV ITTVPLVSEI QLMAATGGTE LSCYRCIIPF 

        70         80         90        100        110        120 
AVVVFIAGIV VTAVAYSFNS HGSIISIFGL VVLSSGLFLL ASSALCWKVR QRSKKAKRRE 

       130 
SQTALVANQR SLFA 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11587.1.
RefSeqNP_001093110.1. NM_001099640.1.
NP_060756.2. NM_018286.2.
UniGeneHs.173233.

3D structure databases

ProteinModelPortalQ9NV29.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120561. 1 interaction.
IntActQ9NV29. 1 interaction.
STRING9606.ENSP00000299377.

PTM databases

PhosphoSiteQ9NV29.

Polymorphism databases

DMDM109895209.

Proteomic databases

PaxDbQ9NV29.
PRIDEQ9NV29.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000424486; ENSP00000395328; ENSG00000166292.
ENST00000575734; ENSP00000465638; ENSG00000166292.
GeneID55273.
KEGGhsa:55273.
UCSCuc002iuj.4. human.

Organism-specific databases

CTD55273.
GeneCardsGC17M053796.
HGNCHGNC:25607. TMEM100.
HPAHPA055936.
neXtProtNX_Q9NV29.
PharmGKBPA142670749.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG39851.
HOGENOMHOG000154600.
HOVERGENHBG054506.
InParanoidQ9NV29.
OMAPLVSECQ.
OrthoDBEOG7X9G9H.
PhylomeDBQ9NV29.
TreeFamTF332068.

Enzyme and pathway databases

SignaLinkQ9NV29.

Gene expression databases

ArrayExpressQ9NV29.
BgeeQ9NV29.
CleanExHS_TMEM100.
GenevestigatorQ9NV29.

Family and domain databases

InterProIPR028068. PIRT.
[Graphical view]
PfamPF15099. PIRT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi55273.
NextBio35532614.
PROQ9NV29.

Entry information

Entry nameTM100_HUMAN
AccessionPrimary (citable) accession number: Q9NV29
Secondary accession number(s): D3DTY7, I3L214, Q96FZ0
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: July 9, 2014
This is version 75 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 17

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