BWNIN_HUMAN
ID BWNIN_HUMAN Reviewed; 71 AA.
AC Q69YU5;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 19-JAN-2010, sequence version 2.
DT 03-AUG-2022, entry version 101.
DE RecName: Full=Protein BRAWNIN {ECO:0000303|PubMed:32161263};
GN Name=BRAWNIN {ECO:0000303|PubMed:32161263};
GN Synonyms=BR {ECO:0000303|PubMed:32161263},
GN C12orf73 {ECO:0000312|HGNC:HGNC:34450};
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=Retinoblastoma;
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 MRNA], AND VARIANT CYS-45.
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung carcinoma;
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 FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY, TISSUE SPECIFICITY, INDUCTION,
RP AND INTERACTION WITH UQCRC1.
RX PubMed=32161263; DOI=10.1038/s41467-020-14999-2;
RA Zhang S., Reljic B., Liang C., Kerouanton B., Francisco J.C., Peh J.H.,
RA Mary C., Jagannathan N.S., Olexiouk V., Tang C., Fidelito G., Nama S.,
RA Cheng R.K., Wee C.L., Wang L.C., Duek Roggli P., Sampath P., Lane L.,
RA Petretto E., Sobota R.M., Jesuthasan S., Tucker-Kellogg L., Reversade B.,
RA Menschaert G., Sun L., Stroud D.A., Ho L.;
RT "Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory
RT complex III assembly.";
RL Nat. Commun. 11:1312-1312(2020).
RN [6]
RP FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY, AND INTERACTION WITH SMIM4.
RX PubMed=34969438; DOI=10.7554/elife.68213;
RA Dennerlein S., Poerschke S., Oeljeklaus S., Wang C., Richter-Dennerlein R.,
RA Sattmann J., Bauermeister D., Hanitsch E., Stoldt S., Langer T., Jakobs S.,
RA Warscheid B., Rehling P.;
RT "Defining the interactome of the human mitochondrial ribosome identifies
RT SMIM4 and TMEM223 as respiratory chain assembly factors.";
RL Elife 10:0-0(2021).
CC -!- FUNCTION: Essential for mitochondrial respiratory chain complex III
CC (CIII) assembly and stability (PubMed:32161263). Also required for
CC cytochrome c oxidase complex (complex IV) assembly (PubMed:34969438).
CC {ECO:0000269|PubMed:32161263, ECO:0000269|PubMed:34969438}.
CC -!- SUBUNIT: Interacts with UQCRC1 (PubMed:32161263). Interacts with UQCRQ
CC (By similarity). Interacts with SMIM4 (PubMed:34969438).
CC {ECO:0000250|UniProtKB:Q8BTC1, ECO:0000269|PubMed:32161263,
CC ECO:0000269|PubMed:34969438}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:32161263, ECO:0000269|PubMed:34969438}; Single-pass
CC type II membrane protein {ECO:0000305|PubMed:32161263}.
CC -!- TISSUE SPECIFICITY: Cardiac and skeletal muscle (at protein level).
CC {ECO:0000269|PubMed:32161263}.
CC -!- INDUCTION: Up-regulated in response to glucose, serum, fatty acid
CC starvation and AMPK activation using 5-aminoimidizole-4-carboxamide-1-
CC beta- D-riboside. {ECO:0000269|PubMed:32161263}.
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DR EMBL; AK024037; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL359596; CAH10667.1; -; mRNA.
DR EMBL; CH471054; EAW97726.1; -; Genomic_DNA.
DR EMBL; BC039467; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS44964.1; -.
DR RefSeq; NP_001129042.1; NM_001135570.1.
DR RefSeq; XP_016875405.1; XM_017019916.1.
DR RefSeq; XP_016875406.1; XM_017019917.1.
DR AlphaFoldDB; Q69YU5; -.
DR SMR; Q69YU5; -.
DR BioGRID; 608990; 9.
DR IntAct; Q69YU5; 5.
DR MINT; Q69YU5; -.
DR STRING; 9606.ENSP00000367330; -.
DR iPTMnet; Q69YU5; -.
DR PhosphoSitePlus; Q69YU5; -.
DR SwissPalm; Q69YU5; -.
DR BioMuta; C12orf73; -.
DR EPD; Q69YU5; -.
DR jPOST; Q69YU5; -.
DR MassIVE; Q69YU5; -.
DR MaxQB; Q69YU5; -.
DR PaxDb; Q69YU5; -.
DR PeptideAtlas; Q69YU5; -.
DR PRIDE; Q69YU5; -.
DR ProteomicsDB; 66170; -.
DR TopDownProteomics; Q69YU5; -.
DR Antibodypedia; 48147; 8 antibodies from 7 providers.
DR DNASU; 728568; -.
DR Ensembl; ENST00000378090.9; ENSP00000367330.4; ENSG00000204954.10.
DR Ensembl; ENST00000547945.5; ENSP00000449839.1; ENSG00000204954.10.
DR Ensembl; ENST00000549478.1; ENSP00000448771.1; ENSG00000204954.10.
DR Ensembl; ENST00000553183.5; ENSP00000446981.1; ENSG00000204954.10.
DR GeneID; 728568; -.
DR KEGG; hsa:728568; -.
DR MANE-Select; ENST00000378090.9; ENSP00000367330.4; NM_001135570.3; NP_001129042.1.
DR UCSC; uc009zuj.3; human.
DR CTD; 728568; -.
DR DisGeNET; 728568; -.
DR GeneCards; C12orf73; -.
DR HGNC; HGNC:34450; C12orf73.
DR HPA; ENSG00000204954; Tissue enhanced (skeletal).
DR neXtProt; NX_Q69YU5; -.
DR OpenTargets; ENSG00000204954; -.
DR PharmGKB; PA164716790; -.
DR VEuPathDB; HostDB:ENSG00000204954; -.
DR eggNOG; ENOG502S9EP; Eukaryota.
DR GeneTree; ENSGT00390000007685; -.
DR HOGENOM; CLU_202878_0_0_1; -.
DR InParanoid; Q69YU5; -.
DR OMA; PRYLKMF; -.
DR OrthoDB; 1635247at2759; -.
DR PhylomeDB; Q69YU5; -.
DR TreeFam; TF333420; -.
DR PathwayCommons; Q69YU5; -.
DR SignaLink; Q69YU5; -.
DR BioGRID-ORCS; 728568; 8 hits in 1067 CRISPR screens.
DR ChiTaRS; C12orf73; human.
DR GenomeRNAi; 728568; -.
DR Pharos; Q69YU5; Tdark.
DR PRO; PR:Q69YU5; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q69YU5; protein.
DR Bgee; ENSG00000204954; Expressed in vastus lateralis and 179 other tissues.
DR ExpressionAtlas; Q69YU5; baseline and differential.
DR Genevisible; Q69YU5; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0034551; P:mitochondrial respiratory chain complex III assembly; IMP:UniProtKB.
DR InterPro; IPR027858; BRAWNIN.
DR PANTHER; PTHR28492; PTHR28492; 1.
DR Pfam; PF14990; DUF4516; 1.
PE 1: Evidence at protein level;
KW Membrane; Mitochondrion; Mitochondrion inner membrane; Reference proteome;
KW Signal-anchor; Transmembrane; Transmembrane helix.
FT CHAIN 1..71
FT /note="Protein BRAWNIN"
FT /id="PRO_0000340273"
FT TOPO_DOM 1..8
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000305|PubMed:34969438"
FT TRANSMEM 9..25
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 26..71
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000305|PubMed:32161263,
FT ECO:0000305|PubMed:34969438"
FT VARIANT 45
FT /note="R -> C (in dbSNP:rs2293624)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_062284"
SQ SEQUENCE 71 AA; 8023 MW; 00926CB5AD126119 CRC64;
MPAGVPMSTY LKMFAASLLA MCAGAEVVHR YYRPDLTIPE IPPKRGELKT ELLGLKERKH
KPQVSQQEEL K
