Entry sw:TM100_HUMAN

ID   TM100_HUMAN             Reviewed;         134 AA.
AC   Q9NV29; D3DTY7; I3L214; Q96FZ0;
DT   27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT   27-JUN-2006, sequence version 2.
DT   30-NOV-2016, entry version 94.
DE   RecName: Full=Transmembrane protein 100;
GN   Name=TMEM100;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Placenta;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16625196; DOI=10.1038/nature04689;
RA   Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA   Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA   Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA   Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA   DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA   Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA   Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA   Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA   Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA   Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA   Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA   Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA   Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA   Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT   "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT   the human lineage.";
RL   Nature 440:1045-1049(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Ovary;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INDUCTION.
RX   PubMed=22783020; DOI=10.1073/pnas.1207210109;
RA   Somekawa S., Imagawa K., Hayashi H., Sakabe M., Ioka T., Sato G.E.,
RA   Inada K., Iwamoto T., Mori T., Uemura S., Nakagawa O., Saito Y.;
RT   "Tmem100, an ALK1 receptor signaling-dependent gene essential for
RT   arterial endothelium differentiation and vascular morphogenesis.";
RL   Proc. Natl. Acad. Sci. U.S.A. 109:12064-12069(2012).
RN   [6]
RP   SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX   PubMed=23485812; DOI=10.1016/j.neuroscience.2013.02.034;
RA   Eisenman S.T., Gibbons S.J., Singh R.D., Bernard C.E., Wu J.,
RA   Sarr M.G., Kendrick M.L., Larson D.W., Dozois E.J., Shen K.R.,
RA   Farrugia G.;
RT   "Distribution of TMEM100 in the mouse and human gastrointestinal
RT   tract--a novel marker of enteric nerves.";
RL   Neuroscience 240:117-128(2013).
CC   -!- FUNCTION: Plays a role during embryonic arterial endothelium
CC       differentiation and vascular morphogenesis through the ACVRL1
CC       receptor-dependent signaling pathway upon stimulation by bone
CC       morphogenetic proteins, such as GDF2/BMP9 and BMP10. Involved in
CC       the regulation of nociception, acting as a modulator of the
CC       interaction between TRPA1 and TRPV1, two molecular sensors and
CC       mediators of pain signals in dorsal root ganglia (DRG) neurons.
CC       Mechanistically, it weakens their interaction, thereby releasing
CC       the inhibition of TRPA1 by TRPV1 and increasing the single-channel
CC       open probability of the TRPA1-TRPV1 complex.
CC       {ECO:0000250|UniProtKB:Q9CQG9}.
CC   -!- SUBUNIT: Interacts (via C-terminus) with TRPA1 and TRPV1.
CC       {ECO:0000250|UniProtKB:Q9CQG9}.
CC   -!- INTERACTION:
CC       Q2TAC2:CCDC57; NbExp=3; IntAct=EBI-8644968, EBI-2808286;
CC       A4D127:MEOX2; NbExp=3; IntAct=EBI-8644968, EBI-10172134;
CC       Q9BSE2:TMEM79; NbExp=3; IntAct=EBI-8644968, EBI-8649725;
CC   -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC       Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
CC       Perikaryon. Cytoplasm, perinuclear region. Endoplasmic reticulum.
CC       Note=Colocalized with HSPA5 in the endoplasmic reticulum (ER).
CC       Enriched in ER microsome. Colocalized with BMP4 in neural cell
CC       bodies and neural fibers of the enteric nervous system.
CC   -!- TISSUE SPECIFICITY: Expressed in neurons of the myenteric and
CC       submucosal plexuses in the gastric body, jejunum and proximal
CC       colon. Expressed in arterial endothelial cells and neurons of the
CC       central nervous system and peripheral nervous system. Expressed in
CC       umbilical artery endothelial cells (at protein level).
CC       {ECO:0000269|PubMed:22783020, ECO:0000269|PubMed:23485812}.
CC   -!- INDUCTION: Up-regulated by GDF2/BMP9 and BMP10 (at protein level).
CC       {ECO:0000269|PubMed:22783020}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AC009837; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
DR   EMBL; AK001832; BAA91931.1; -; mRNA.
DR   EMBL; AC009837; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471109; EAW94537.1; -; Genomic_DNA.
DR   EMBL; CH471109; EAW94538.1; -; Genomic_DNA.
DR   EMBL; CH471109; EAW94539.1; -; Genomic_DNA.
DR   EMBL; BC010128; AAH10128.1; -; mRNA.
DR   CCDS; CCDS11587.1; -.
DR   RefSeq; NP_001093110.1; NM_001099640.1.
DR   RefSeq; NP_060756.2; NM_018286.2.
DR   RefSeq; XP_016880303.1; XM_017024814.1.
DR   RefSeq; XP_016880304.1; XM_017024815.1.
DR   RefSeq; XP_016880305.1; XM_017024816.1.
DR   UniGene; Hs.173233; -.
DR   ProteinModelPortal; Q9NV29; -.
DR   BioGrid; 120561; 4.
DR   IntAct; Q9NV29; 5.
DR   STRING; 9606.ENSP00000395328; -.
DR   iPTMnet; Q9NV29; -.
DR   PhosphoSitePlus; Q9NV29; -.
DR   BioMuta; TMEM100; -.
DR   DMDM; 109895209; -.
DR   PaxDb; Q9NV29; -.
DR   PeptideAtlas; Q9NV29; -.
DR   PRIDE; Q9NV29; -.
DR   Ensembl; ENST00000424486; ENSP00000395328; ENSG00000166292.
DR   Ensembl; ENST00000575734; ENSP00000465638; ENSG00000166292.
DR   GeneID; 55273; -.
DR   KEGG; hsa:55273; -.
DR   UCSC; uc002iuj.5; human.
DR   CTD; 55273; -.
DR   DisGeNET; 55273; -.
DR   GeneCards; TMEM100; -.
DR   HGNC; HGNC:25607; TMEM100.
DR   HPA; HPA055936; -.
DR   MIM; 616334; gene.
DR   neXtProt; NX_Q9NV29; -.
DR   OpenTargets; ENSG00000166292; -.
DR   PharmGKB; PA142670749; -.
DR   eggNOG; ENOG410IY9U; Eukaryota.
DR   eggNOG; ENOG410YJ77; LUCA.
DR   GeneTree; ENSGT00390000018520; -.
DR   HOGENOM; HOG000154600; -.
DR   HOVERGEN; HBG054506; -.
DR   InParanoid; Q9NV29; -.
DR   OMA; PLVSECQ; -.
DR   OrthoDB; EOG091G0X1R; -.
DR   PhylomeDB; Q9NV29; -.
DR   TreeFam; TF332068; -.
DR   SignaLink; Q9NV29; -.
DR   GenomeRNAi; 55273; -.
DR   PRO; PR:Q9NV29; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   Bgee; ENSG00000166292; -.
DR   CleanEx; HS_TMEM100; -.
DR   ExpressionAtlas; Q9NV29; baseline and differential.
DR   Genevisible; Q9NV29; HS.
DR   GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0043204; C:perikaryon; IDA:UniProtKB.
DR   GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR   GO; GO:0001525; P:angiogenesis; IEA:Ensembl.
DR   GO; GO:0060842; P:arterial endothelial cell differentiation; IEA:Ensembl.
DR   GO; GO:0030509; P:BMP signaling pathway; IDA:UniProtKB.
DR   GO; GO:0071773; P:cellular response to BMP stimulus; IDA:UniProtKB.
DR   GO; GO:0003198; P:epithelial to mesenchymal transition involved in endocardial cushion formation; IEA:Ensembl.
DR   GO; GO:0001701; P:in utero embryonic development; IEA:Ensembl.
DR   GO; GO:0007219; P:Notch signaling pathway; IEA:Ensembl.
DR   GO; GO:0045603; P:positive regulation of endothelial cell differentiation; ISS:UniProtKB.
DR   GO; GO:2001214; P:positive regulation of vasculogenesis; ISS:UniProtKB.
DR   GO; GO:0043491; P:protein kinase B signaling; IEA:Ensembl.
DR   GO; GO:0050848; P:regulation of calcium-mediated signaling; IEA:Ensembl.
DR   GO; GO:0051930; P:regulation of sensory perception of pain; ISS:UniProtKB.
DR   GO; GO:0001570; P:vasculogenesis; IEA:Ensembl.
DR   InterPro; IPR032536; TMEM100.
DR   PANTHER; PTHR16100:SF5; PTHR16100:SF5; 1.
DR   Pfam; PF16311; TMEM100; 1.
PE   1: Evidence at protein level;
KW   Cell membrane; Complete proteome; Cytoplasm; Developmental protein;
KW   Differentiation; Endoplasmic reticulum; Membrane; Phosphoprotein;
KW   Reference proteome; Transmembrane; Transmembrane helix.
FT   CHAIN         1    134       Transmembrane protein 100.
FT                                /FTId=PRO_0000240846.
FT   TRANSMEM     56     76       Helical. {ECO:0000255}.
FT   TRANSMEM     84    104       Helical. {ECO:0000255}.
FT   MOD_RES     121    121       Phosphoserine.
FT                                {ECO:0000250|UniProtKB:Q9CQG9}.
FT   CONFLICT    133    133       F -> S (in Ref. 1; BAA91931).
FT                                {ECO:0000305}.
CC   --------------------------------------------------------------------------
CC   The following FT lines are automated annotations from the MyHits database.
CC   --------------------------------------------------------------------------
FT   MYHIT         1    133       ipfam:TMEM100 [T]
SQ   SEQUENCE   134 AA;  14386 MW;  7F80C71D1D065245 CRC64;
     MTEEPIKEIL GAPKAHMAAT MEKSPKSEVV ITTVPLVSEI QLMAATGGTE LSCYRCIIPF
     AVVVFIAGIV VTAVAYSFNS HGSIISIFGL VVLSSGLFLL ASSALCWKVR QRSKKAKRRE
     SQTALVANQR SLFA
//