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TM186_HUMAN
ID   TM186_HUMAN             Reviewed;         213 AA.
AC   Q96B77; B2RAY0; Q9Y4T4;
DT   06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-DEC-2001, sequence version 1.
DT   03-AUG-2022, entry version 127.
DE   RecName: Full=Transmembrane protein 186 {ECO:0000305};
GN   Name=TMEM186 {ECO:0000312|HGNC:HGNC:24530}; Synonyms=C16orf51;
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=Brain;
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=Brain;
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 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=Uterus;
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.
RX   PubMed=32275929; DOI=10.1016/j.bbabio.2020.148202;
RA   Sanchez-Caballero L., Elurbe D.M., Baertling F., Guerrero-Castillo S.,
RA   van den Brand M., van Strien J., van Dam T.J.P., Rodenburg R., Brandt U.,
RA   Huynen M.A., Nijtmans L.G.J.;
RT   "TMEM70 functions in the assembly of complexes I and V.";
RL   Biochim. Biophys. Acta 1861:148202-148202(2020).
RN   [6]
RP   SUBCELLULAR LOCATION, TOPOLOGY, IDENTIFICATION IN THE MCIA COMPLEX,
RP   FUNCTION, AND INTERACTION WITH MT-ND3.
RX   PubMed=32320651; DOI=10.1016/j.celrep.2020.107541;
RA   Formosa L.E., Muellner-Wong L., Reljic B., Sharpe A.J., Jackson T.D.,
RA   Beilharz T.H., Stojanovski D., Lazarou M., Stroud D.A., Ryan M.T.;
RT   "Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly
RT   Complex Factors in the Biogenesis of Complex I.";
RL   Cell Rep. 31:107541-107541(2020).
CC   -!- FUNCTION: As part of the MCIA complex, required for efficient assembly
CC       of the mitochondrial complex I. {ECO:0000269|PubMed:32320651}.
CC   -!- SUBUNIT: Part of the mitochondrial complex I assembly/MCIA complex that
CC       comprises at least the core subunits TMEM126B, NDUFAF1, ECSIT and ACAD9
CC       and complement subunits such as COA1 and TMEM186 (PubMed:32320651).
CC       Interacts with MT-ND3 (PubMed:32320651). {ECO:0000269|PubMed:32320651}.
CC   -!- INTERACTION:
CC       Q96B77; P22607: FGFR3; NbExp=3; IntAct=EBI-9089409, EBI-348399;
CC       Q96B77; P14136: GFAP; NbExp=3; IntAct=EBI-9089409, EBI-744302;
CC       Q96B77; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-9089409, EBI-1055254;
CC       Q96B77; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-9089409, EBI-741480;
CC       Q96B77; Q9Y649; NbExp=3; IntAct=EBI-9089409, EBI-25900580;
CC   -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC       {ECO:0000269|PubMed:32320651, ECO:0000305|PubMed:32275929}; Multi-pass
CC       membrane protein {ECO:0000305}.
CC   -!- SIMILARITY: Belongs to the TMEM186 family. {ECO:0000305}.
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DR   EMBL; AL080088; CAB45703.2; -; mRNA.
DR   EMBL; AK314404; BAG37027.1; -; mRNA.
DR   EMBL; CH471112; EAW85205.1; -; Genomic_DNA.
DR   EMBL; BC015912; AAH15912.1; -; mRNA.
DR   CCDS; CCDS10535.1; -.
DR   PIR; T12474; T12474.
DR   RefSeq; NP_056236.2; NM_015421.3.
DR   AlphaFoldDB; Q96B77; -.
DR   BioGRID; 117394; 74.
DR   ComplexPortal; CPX-6322; Mitochondrial complex I intermediate assembly (MCIA) complex.
DR   IntAct; Q96B77; 29.
DR   MINT; Q96B77; -.
DR   STRING; 9606.ENSP00000331640; -.
DR   iPTMnet; Q96B77; -.
DR   PhosphoSitePlus; Q96B77; -.
DR   BioMuta; TMEM186; -.
DR   DMDM; 74731207; -.
DR   EPD; Q96B77; -.
DR   jPOST; Q96B77; -.
DR   MassIVE; Q96B77; -.
DR   MaxQB; Q96B77; -.
DR   PaxDb; Q96B77; -.
DR   PeptideAtlas; Q96B77; -.
DR   PRIDE; Q96B77; -.
DR   ProteomicsDB; 76053; -.
DR   Antibodypedia; 3062; 44 antibodies from 11 providers.
DR   DNASU; 25880; -.
DR   Ensembl; ENST00000333050.7; ENSP00000331640.6; ENSG00000184857.8.
DR   GeneID; 25880; -.
DR   KEGG; hsa:25880; -.
DR   MANE-Select; ENST00000333050.7; ENSP00000331640.6; NM_015421.4; NP_056236.2.
DR   UCSC; uc002cze.3; human.
DR   CTD; 25880; -.
DR   DisGeNET; 25880; -.
DR   GeneCards; TMEM186; -.
DR   HGNC; HGNC:24530; TMEM186.
DR   HPA; ENSG00000184857; Low tissue specificity.
DR   neXtProt; NX_Q96B77; -.
DR   OpenTargets; ENSG00000184857; -.
DR   PharmGKB; PA162406190; -.
DR   VEuPathDB; HostDB:ENSG00000184857; -.
DR   eggNOG; ENOG502S11D; Eukaryota.
DR   GeneTree; ENSGT00390000000087; -.
DR   HOGENOM; CLU_104872_1_0_1; -.
DR   InParanoid; Q96B77; -.
DR   OMA; MTIGDTG; -.
DR   OrthoDB; 1296527at2759; -.
DR   PhylomeDB; Q96B77; -.
DR   TreeFam; TF326623; -.
DR   PathwayCommons; Q96B77; -.
DR   Reactome; R-HSA-611105; Respiratory electron transport.
DR   Reactome; R-HSA-6799198; Complex I biogenesis.
DR   SignaLink; Q96B77; -.
DR   BioGRID-ORCS; 25880; 11 hits in 1081 CRISPR screens.
DR   GenomeRNAi; 25880; -.
DR   Pharos; Q96B77; Tdark.
DR   PRO; PR:Q96B77; -.
DR   Proteomes; UP000005640; Chromosome 16.
DR   RNAct; Q96B77; protein.
DR   Bgee; ENSG00000184857; Expressed in cervix squamous epithelium and 198 other tissues.
DR   Genevisible; Q96B77; HS.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR   GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR   GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IMP:UniProtKB.
DR   InterPro; IPR026571; Tmem186.
DR   InterPro; IPR045325; TMEM70/TMEM186/TMEM223.
DR   PANTHER; PTHR13603; PTHR13603; 1.
DR   Pfam; PF06979; TMEM70; 1.
PE   1: Evidence at protein level;
KW   Membrane; Mitochondrion; Mitochondrion inner membrane; Reference proteome;
KW   Transmembrane; Transmembrane helix.
FT   CHAIN           1..213
FT                   /note="Transmembrane protein 186"
FT                   /id="PRO_0000279439"
FT   TOPO_DOM        1..79
FT                   /note="Mitochondrial matrix"
FT                   /evidence="ECO:0000305"
FT   TRANSMEM        80..100
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        101..102
FT                   /note="Mitochondrial intermembrane"
FT                   /evidence="ECO:0000305"
FT   TRANSMEM        103..123
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        124..213
FT                   /note="Mitochondrial matrix"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        19
FT                   /note="R -> G (in Ref. 1; CAB45703)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   213 AA;  24893 MW;  BE993F091D8FF6F0 CRC64;
     MAALLRAVRR FRGKAVWERP LHGLWCCSGQ EDPKRWVGSS SPISKEKLPN AETEKFWMFY
     RFDAIRTFGF LSRLKLAQTA LTVVALPPGY YLYSQGLLTL NTVCLMSGIS GFALTMLCWM
     SYFLRRLVGI LYLNESGTML RVAHLNFWGW RQDTYCPMAD VIPLTETKDR PQEMFVRIQR
     YSGKQTFYVT LRYGRILDRE RFTQVFGVHQ MLK
 
 
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