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 03-AUG-2022, entry version 125.
DE RecName: Full=Transmembrane protein 100;
GN Name=TMEM100;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., 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 the
RT 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., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., 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 project:
RT 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 arterial
RT 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., Sarr M.G.,
RA Kendrick M.L., Larson D.W., Dozois E.J., Shen K.R., Farrugia G.;
RT "Distribution of TMEM100 in the mouse and human gastrointestinal tract--a
RT 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 receptor-
CC dependent signaling pathway upon stimulation by bone morphogenetic
CC proteins, such as GDF2/BMP9 and BMP10. Involved in the regulation of
CC nociception, acting as a modulator of the interaction between TRPA1 and
CC TRPV1, two molecular sensors and mediators of pain signals in dorsal
CC root ganglia (DRG) neurons. Mechanistically, it weakens their
CC interaction, thereby releasing the inhibition of TRPA1 by TRPV1 and
CC increasing the single-channel open probability of the TRPA1-TRPV1
CC complex. {ECO:0000250|UniProtKB:Q9CQG9}.
CC -!- SUBUNIT: Interacts (via C-terminus) with TRPA1 and TRPV1 (By
CC similarity). Interacts with TASOR (By similarity).
CC {ECO:0000250|UniProtKB:Q9CQG9}.
CC -!- INTERACTION:
CC Q9NV29; Q13520: AQP6; NbExp=3; IntAct=EBI-8644968, EBI-13059134;
CC Q9NV29; Q2TAC2: CCDC57; NbExp=3; IntAct=EBI-8644968, EBI-2808286;
CC Q9NV29; Q2TAC2-2: CCDC57; NbExp=3; IntAct=EBI-8644968, EBI-10961624;
CC Q9NV29; P20138: CD33; NbExp=3; IntAct=EBI-8644968, EBI-3906571;
CC Q9NV29; O95471: CLDN7; NbExp=3; IntAct=EBI-8644968, EBI-740744;
CC Q9NV29; P21964: COMT; NbExp=3; IntAct=EBI-8644968, EBI-372265;
CC Q9NV29; Q15125: EBP; NbExp=3; IntAct=EBI-8644968, EBI-3915253;
CC Q9NV29; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-8644968, EBI-781551;
CC Q9NV29; Q9Y624: F11R; NbExp=3; IntAct=EBI-8644968, EBI-742600;
CC Q9NV29; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-8644968, EBI-18304435;
CC Q9NV29; Q8TBE3: FNDC9; NbExp=3; IntAct=EBI-8644968, EBI-12142257;
CC Q9NV29; P48165: GJA8; NbExp=3; IntAct=EBI-8644968, EBI-17458373;
CC Q9NV29; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-8644968, EBI-13345167;
CC Q9NV29; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-8644968, EBI-18053395;
CC Q9NV29; P15260: IFNGR1; NbExp=3; IntAct=EBI-8644968, EBI-1030755;
CC Q9NV29; Q8N5M9: JAGN1; NbExp=3; IntAct=EBI-8644968, EBI-10266796;
CC Q9NV29; Q8TAF8: LHFPL5; NbExp=3; IntAct=EBI-8644968, EBI-2820517;
CC Q9NV29; P50222: MEOX2; NbExp=3; IntAct=EBI-8644968, EBI-748397;
CC Q9NV29; Q8N1F7: NUP93; NbExp=3; IntAct=EBI-8644968, EBI-1042703;
CC Q9NV29; Q9H902: REEP1; NbExp=3; IntAct=EBI-8644968, EBI-1644241;
CC Q9NV29; Q86VR2: RETREG3; NbExp=3; IntAct=EBI-8644968, EBI-10192441;
CC Q9NV29; Q96TC7: RMDN3; NbExp=3; IntAct=EBI-8644968, EBI-1056589;
CC Q9NV29; Q6ZMZ0: RNF19B; NbExp=3; IntAct=EBI-8644968, EBI-2466594;
CC Q9NV29; O14863: SLC30A4; NbExp=3; IntAct=EBI-8644968, EBI-13918058;
CC Q9NV29; Q9BS91: SLC35A5; NbExp=3; IntAct=EBI-8644968, EBI-18915901;
CC Q9NV29; Q86WV6: STING1; NbExp=3; IntAct=EBI-8644968, EBI-2800345;
CC Q9NV29; Q16623: STX1A; NbExp=3; IntAct=EBI-8644968, EBI-712466;
CC Q9NV29; Q8N3G9: TMEM130; NbExp=3; IntAct=EBI-8644968, EBI-19763514;
CC Q9NV29; Q9NRX6: TMEM167B; NbExp=3; IntAct=EBI-8644968, EBI-17684533;
CC Q9NV29; Q4KMG9: TMEM52B; NbExp=3; IntAct=EBI-8644968, EBI-18178701;
CC Q9NV29; Q9BSE2: TMEM79; NbExp=3; IntAct=EBI-8644968, EBI-8649725;
CC Q9NV29; Q96HE8: TMEM80; NbExp=3; IntAct=EBI-8644968, EBI-11742770;
CC Q9NV29; Q9H7M9: VSIR; NbExp=3; IntAct=EBI-8644968, EBI-744988;
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). Enriched
CC in ER microsome. Colocalized with BMP4 in neural cell bodies and neural
CC 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 colon.
CC Expressed in arterial endothelial cells and neurons of the central
CC nervous system and peripheral nervous system. Expressed in umbilical
CC 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};
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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 AlphaFoldDB; Q9NV29; -.
DR SMR; Q9NV29; -.
DR BioGRID; 120561; 34.
DR IntAct; Q9NV29; 33.
DR MINT; Q9NV29; -.
DR STRING; 9606.ENSP00000465638; -.
DR TCDB; 8.A.64.1.8; the phosphoinositide-interacting protein (pirt) family.
DR iPTMnet; Q9NV29; -.
DR PhosphoSitePlus; Q9NV29; -.
DR BioMuta; TMEM100; -.
DR DMDM; 109895209; -.
DR jPOST; Q9NV29; -.
DR MassIVE; Q9NV29; -.
DR PaxDb; Q9NV29; -.
DR PeptideAtlas; Q9NV29; -.
DR PRIDE; Q9NV29; -.
DR ProteomicsDB; 46810; -.
DR ProteomicsDB; 82741; -.
DR Antibodypedia; 56967; 173 antibodies from 20 providers.
DR DNASU; 55273; -.
DR Ensembl; ENST00000424486.3; ENSP00000395328.2; ENSG00000166292.12.
DR Ensembl; ENST00000575734.5; ENSP00000465638.1; ENSG00000166292.12.
DR GeneID; 55273; -.
DR KEGG; hsa:55273; -.
DR MANE-Select; ENST00000424486.3; ENSP00000395328.2; NM_018286.3; NP_060756.2.
DR UCSC; uc002iuj.5; human.
DR CTD; 55273; -.
DR DisGeNET; 55273; -.
DR GeneCards; TMEM100; -.
DR HGNC; HGNC:25607; TMEM100.
DR HPA; ENSG00000166292; Tissue enhanced (lung).
DR MIM; 616334; gene.
DR neXtProt; NX_Q9NV29; -.
DR OpenTargets; ENSG00000166292; -.
DR PharmGKB; PA142670749; -.
DR VEuPathDB; HostDB:ENSG00000166292; -.
DR eggNOG; ENOG502RZCB; Eukaryota.
DR GeneTree; ENSGT00940000154322; -.
DR InParanoid; Q9NV29; -.
DR OMA; CWKIRQH; -.
DR OrthoDB; 1598239at2759; -.
DR PhylomeDB; Q9NV29; -.
DR TreeFam; TF332068; -.
DR PathwayCommons; Q9NV29; -.
DR SignaLink; Q9NV29; -.
DR BioGRID-ORCS; 55273; 15 hits in 1070 CRISPR screens.
DR ChiTaRS; TMEM100; human.
DR GenomeRNAi; 55273; -.
DR Pharos; Q9NV29; Tbio.
DR PRO; PR:Q9NV29; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9NV29; protein.
DR Bgee; ENSG00000166292; Expressed in right lung and 166 other tissues.
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; Cytoplasm; Developmental protein; Differentiation;
KW Endoplasmic reticulum; Membrane; Phosphoprotein; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..134
FT /note="Transmembrane protein 100"
FT /id="PRO_0000240846"
FT TRANSMEM 56..76
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 84..104
FT /note="Helical"
FT /evidence="ECO:0000255"
FT MOD_RES 121
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9CQG9"
FT CONFLICT 133
FT /note="F -> S (in Ref. 1; BAA91931)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 134 AA; 14386 MW; 7F80C71D1D065245 CRC64;
MTEEPIKEIL GAPKAHMAAT MEKSPKSEVV ITTVPLVSEI QLMAATGGTE LSCYRCIIPF
AVVVFIAGIV VTAVAYSFNS HGSIISIFGL VVLSSGLFLL ASSALCWKVR QRSKKAKRRE
SQTALVANQR SLFA
