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   24-JAN-2024, entry version 139.
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   GlyCosmos; Q9H0C3; 2 sites, No reported glycans.
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; 9606-ENSP00000266534; -.
DR   PeptideAtlas; Q9H0C3; -.
DR   Antibodypedia; 25193; 96 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   AGR; HGNC:25308; -.
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; SYVERDM; -.
DR   OrthoDB; 2955478at2759; -.
DR   PhylomeDB; Q9H0C3; -.
DR   TreeFam; TF336012; -.
DR   PathwayCommons; Q9H0C3; -.
DR   SignaLink; Q9H0C3; -.
DR   BioGRID-ORCS; 84216; 9 hits in 1150 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 174 other cell types or tissues.
DR   ExpressionAtlas; Q9H0C3; baseline and differential.
DR   GO; GO:0005783; C:endoplasmic reticulum; IDA:LIFEdb.
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; TRANSMEMBRANE PROTEIN 117; 1.
DR   PANTHER; PTHR31226:SF1; TRANSMEMBRANE PROTEIN 117; 1.
DR   Pfam; PF15113; TMEM117; 1.
DR   Genevisible; Q9H0C3; HS.
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
FT                   N-glycosylation; when associated with A-371."
FT                   /evidence="ECO:0000269|PubMed:27391701"
FT   MUTAGEN         371
FT                   /note="N->A: Reduced N-glycosylation. Loss of
FT                   N-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
//