TM117_HUMAN
ID TM117_HUMAN Reviewed; 514 AA.
AC Q9H0C3;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Transmembrane protein 117;
GN Name=TMEM117;
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=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
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 [4]
RP SUBCELLULAR LOCATION, TOPOLOGY, GLYCOSYLATION AT ASN-353 AND ASN-371, AND
RP MUTAGENESIS OF ASN-353 AND ASN-371.
RX PubMed=27391701; DOI=10.1371/journal.pone.0158594;
RA Buergi J., Xue B., Uversky V.N., van der Goot F.G.;
RT "Intrinsic disorder in transmembrane proteins: roles in signaling and
RT topology prediction.";
RL PLoS ONE 11:E0158594-E0158594(2016).
RN [5]
RP FUNCTION.
RX PubMed=28285135; DOI=10.1016/j.bbrc.2017.03.017;
RA Tamaki T., Kamatsuka K., Sato T., Morooka S., Otsuka K., Hattori M.,
RA Sugiyama T.;
RT "A novel transmembrane protein defines the endoplasmic reticulum stress-
RT induced cell death pathway.";
RL Biochem. Biophys. Res. Commun. 486:149-155(2017).
CC -!- FUNCTION: Involved in endoplasmic reticulum (ER) stress-induced cell
CC death pathway. {ECO:0000269|PubMed:28285135}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:27391701};
CC Multi-pass membrane protein {ECO:0000255}.
CC -!- SIMILARITY: Belongs to the TMEM117 family. {ECO:0000305}.
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DR EMBL; AL136855; CAB66789.1; -; mRNA.
DR EMBL; AK057287; BAB71411.1; -; mRNA.
DR EMBL; BC060798; AAH60798.1; -; mRNA.
DR CCDS; CCDS8745.1; -.
DR RefSeq; NP_001273142.1; NM_001286213.1.
DR RefSeq; NP_115632.1; NM_032256.2.
DR RefSeq; XP_011537133.1; XM_011538831.2.
DR RefSeq; XP_011537134.1; XM_011538832.2.
DR AlphaFoldDB; Q9H0C3; -.
DR SMR; Q9H0C3; -.
DR BioGRID; 123950; 1.
DR STRING; 9606.ENSP00000266534; -.
DR TCDB; 9.B.366.1.1; the tmem117 (tmem117) family.
DR GlyGen; Q9H0C3; 2 sites.
DR iPTMnet; Q9H0C3; -.
DR PhosphoSitePlus; Q9H0C3; -.
DR BioMuta; TMEM117; -.
DR DMDM; 74733520; -.
DR MassIVE; Q9H0C3; -.
DR MaxQB; Q9H0C3; -.
DR PaxDb; Q9H0C3; -.
DR PeptideAtlas; Q9H0C3; -.
DR PRIDE; Q9H0C3; -.
DR Antibodypedia; 25193; 93 antibodies from 18 providers.
DR DNASU; 84216; -.
DR Ensembl; ENST00000266534.8; ENSP00000266534.3; ENSG00000139173.10.
DR GeneID; 84216; -.
DR KEGG; hsa:84216; -.
DR MANE-Select; ENST00000266534.8; ENSP00000266534.3; NM_032256.3; NP_115632.1.
DR UCSC; uc001rod.5; human.
DR CTD; 84216; -.
DR DisGeNET; 84216; -.
DR GeneCards; TMEM117; -.
DR HGNC; HGNC:25308; TMEM117.
DR HPA; ENSG00000139173; Low tissue specificity.
DR neXtProt; NX_Q9H0C3; -.
DR OpenTargets; ENSG00000139173; -.
DR PharmGKB; PA143485638; -.
DR VEuPathDB; HostDB:ENSG00000139173; -.
DR eggNOG; ENOG502QXR1; Eukaryota.
DR GeneTree; ENSGT00390000013052; -.
DR HOGENOM; CLU_047657_0_0_1; -.
DR InParanoid; Q9H0C3; -.
DR OMA; GSMGAYI; -.
DR OrthoDB; 801372at2759; -.
DR PhylomeDB; Q9H0C3; -.
DR TreeFam; TF336012; -.
DR PathwayCommons; Q9H0C3; -.
DR SignaLink; Q9H0C3; -.
DR BioGRID-ORCS; 84216; 9 hits in 1074 CRISPR screens.
DR ChiTaRS; TMEM117; human.
DR GeneWiki; TMEM117; -.
DR GenomeRNAi; 84216; -.
DR Pharos; Q9H0C3; Tbio.
DR PRO; PR:Q9H0C3; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q9H0C3; protein.
DR Bgee; ENSG00000139173; Expressed in cardiac muscle of right atrium and 172 other tissues.
DR ExpressionAtlas; Q9H0C3; baseline and differential.
DR Genevisible; Q9H0C3; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:LIFEdb.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0070059; P:intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; IMP:UniProtKB.
DR InterPro; IPR029370; TMEM117.
DR PANTHER; PTHR31226; PTHR31226; 1.
DR Pfam; PF15113; TMEM117; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Glycoprotein; Membrane; Phosphoprotein; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..514
FT /note="Transmembrane protein 117"
FT /id="PRO_0000251204"
FT TOPO_DOM 1..15
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305|PubMed:27391701"
FT TRANSMEM 16..36
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 37..65
FT /note="Extracellular"
FT /evidence="ECO:0000305|PubMed:27391701"
FT TRANSMEM 66..86
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 87..110
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305|PubMed:27391701"
FT TRANSMEM 111..131
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 132..154
FT /note="Extracellular"
FT /evidence="ECO:0000305|PubMed:27391701"
FT TRANSMEM 155..175
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 176..198
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305|PubMed:27391701"
FT TRANSMEM 199..219
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 220..239
FT /note="Extracellular"
FT /evidence="ECO:0000305|PubMed:27391701"
FT TRANSMEM 240..260
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 261..295
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305|PubMed:27391701"
FT TRANSMEM 296..316
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 317..394
FT /note="Extracellular"
FT /evidence="ECO:0000305|PubMed:27391701"
FT TRANSMEM 395..415
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 416..514
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305|PubMed:27391701"
FT REGION 429..459
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 486..514
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 429..448
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 453
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q8BH18"
FT CARBOHYD 353
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:27391701"
FT CARBOHYD 371
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:27391701"
FT VARIANT 90
FT /note="R -> H (in dbSNP:rs1948516)"
FT /id="VAR_027660"
FT MUTAGEN 353
FT /note="N->A: Reduced N-glycosylation. Loss of N-
FT glycosylation; when associated with A-371."
FT /evidence="ECO:0000269|PubMed:27391701"
FT MUTAGEN 371
FT /note="N->A: Reduced N-glycosylation. Loss of N-
FT glycosylation; when associated with A-353."
FT /evidence="ECO:0000269|PubMed:27391701"
SQ SEQUENCE 514 AA; 60185 MW; 9DBBF7980AAC2246 CRC64;
MGKDFRYYFQ HPWSRMIVAY LVIFFNFLIF AEDPVSHSQT EANVIVVGNC FSFVTNKYPR
GVGWRILKVL LWLLAILTGL IAGKFLFHQR LFGQLLRLKM FREDHGSWMT MFFSTILFLF
IFSHIYNTIL LMDGNMGAYI ITDYMGIRNE SFMKLAAVGT WMGDFVTAWM VTDMMLQDKP
YPDWGKSARA FWKKGNVRIT LFWTVLFTLT SVVVLVITTD WISWDKLNRG FLPSDEVSRA
FLASFILVFD LLIVMQDWEF PHFMGDVDVN LPGLHTPHMQ FKIPFFQKIF KEEYRIHITG
KWFNYGIIFL VLILDLNMWK NQIFYKPHEY GQYIGPGQKI YTVKDSESLK DLNRTKLSWE
WRSNHTNPRT NKTYVEGDMF LHSRFIGASL DVKCLAFVPS LIAFVWFGFF IWFFGRFLKN
EPRMENQDKT YTRMKRKSPS EHSKDMGITR ENTQASVEDP LNDPSLVCIR SDFNEIVYKS
SHLTSENLSS QLNESTSATE ADQDPTTSKS TPTN
