ETFR1_HUMAN
ID ETFR1_HUMAN Reviewed; 90 AA.
AC Q6IPR1; J3KPI7;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 26-JUN-2013, sequence version 2.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Electron transfer flavoprotein regulatory factor 1 {ECO:0000312|HGNC:HGNC:27052};
DE AltName: Full=LYR motif-containing protein 5 {ECO:0000312|HGNC:HGNC:27052};
GN Name=ETFRF1 {ECO:0000312|HGNC:HGNC:27052};
GN Synonyms=LYRM5 {ECO:0000312|HGNC:HGNC:27052};
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 GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=PNS, and Skeletal muscle;
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 FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, AND INTERACTION WITH NDUFAB1; ETFA
RP AND ETFB.
RX PubMed=27499296; DOI=10.1016/j.molcel.2016.06.033;
RA Floyd B.J., Wilkerson E.M., Veling M.T., Minogue C.E., Xia C., Beebe E.T.,
RA Wrobel R.L., Cho H., Kremer L.S., Alston C.L., Gromek K.A., Dolan B.K.,
RA Ulbrich A., Stefely J.A., Bohl S.L., Werner K.M., Jochem A.,
RA Westphall M.S., Rensvold J.W., Taylor R.W., Prokisch H., Kim J.J.,
RA Coon J.J., Pagliarini D.J.;
RT "Mitochondrial protein interaction mapping identifies regulators of
RT respiratory chain function.";
RL Mol. Cell 63:621-632(2016).
CC -!- FUNCTION: Acts as a regulator of the electron transfer flavoprotein by
CC promoting the removal of flavin from the ETF holoenzyme (composed of
CC ETFA and ETFB). {ECO:0000269|PubMed:27499296}.
CC -!- SUBUNIT: homotetramer (Probable). Interacts with NDUFAB1
CC (PubMed:27499296). Interacts with ETFA (PubMed:27499296). Interacts
CC with ETFB (PubMed:27499296). {ECO:0000269|PubMed:27499296,
CC ECO:0000305|PubMed:27499296}.
CC -!- INTERACTION:
CC Q6IPR1; Q6RW13-2: AGTRAP; NbExp=3; IntAct=EBI-12292149, EBI-11522760;
CC Q6IPR1; P38117: ETFB; NbExp=7; IntAct=EBI-12292149, EBI-1056543;
CC Q6IPR1; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-12292149, EBI-1055254;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:27499296}.
CC -!- SIMILARITY: Belongs to the complex I LYR family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH71769.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAI00277.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC092794; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471094; EAW96510.1; -; Genomic_DNA.
DR EMBL; BC071769; AAH71769.1; ALT_INIT; mRNA.
DR EMBL; BC100276; AAI00277.1; ALT_INIT; mRNA.
DR CCDS; CCDS53764.1; -.
DR RefSeq; NP_001001660.2; NM_001001660.2.
DR RefSeq; XP_005253376.1; XM_005253319.4.
DR RefSeq; XP_005253377.1; XM_005253320.4.
DR RefSeq; XP_016874339.1; XM_017018850.1.
DR AlphaFoldDB; Q6IPR1; -.
DR SMR; Q6IPR1; -.
DR BioGRID; 126846; 23.
DR IntAct; Q6IPR1; 20.
DR STRING; 9606.ENSP00000370761; -.
DR iPTMnet; Q6IPR1; -.
DR PhosphoSitePlus; Q6IPR1; -.
DR BioMuta; ETFRF1; -.
DR DMDM; 519668671; -.
DR EPD; Q6IPR1; -.
DR jPOST; Q6IPR1; -.
DR MassIVE; Q6IPR1; -.
DR MaxQB; Q6IPR1; -.
DR PaxDb; Q6IPR1; -.
DR PeptideAtlas; Q6IPR1; -.
DR PRIDE; Q6IPR1; -.
DR ProteomicsDB; 66455; -.
DR TopDownProteomics; Q6IPR1; -.
DR Antibodypedia; 48706; 44 antibodies from 11 providers.
DR DNASU; 144363; -.
DR Ensembl; ENST00000381356.9; ENSP00000370761.4; ENSG00000205707.11.
DR Ensembl; ENST00000556351.6; ENSP00000452146.2; ENSG00000205707.11.
DR Ensembl; ENST00000556927.6; ENSP00000450443.2; ENSG00000205707.11.
DR Ensembl; ENST00000557540.7; ENSP00000450584.2; ENSG00000205707.11.
DR GeneID; 144363; -.
DR KEGG; hsa:144363; -.
DR MANE-Select; ENST00000381356.9; ENSP00000370761.4; NM_001001660.3; NP_001001660.2.
DR UCSC; uc001rgn.4; human.
DR CTD; 144363; -.
DR GeneCards; ETFRF1; -.
DR HGNC; HGNC:27052; ETFRF1.
DR HPA; ENSG00000205707; Low tissue specificity.
DR neXtProt; NX_Q6IPR1; -.
DR OpenTargets; ENSG00000205707; -.
DR PharmGKB; PA162394773; -.
DR VEuPathDB; HostDB:ENSG00000205707; -.
DR eggNOG; ENOG502S4S4; Eukaryota.
DR GeneTree; ENSGT00390000001810; -.
DR InParanoid; Q6IPR1; -.
DR OMA; PQGYDYF; -.
DR OrthoDB; 1606295at2759; -.
DR PhylomeDB; Q6IPR1; -.
DR TreeFam; TF300251; -.
DR PathwayCommons; Q6IPR1; -.
DR SignaLink; Q6IPR1; -.
DR BioGRID-ORCS; 144363; 95 hits in 938 CRISPR screens.
DR ChiTaRS; ETFRF1; human.
DR GenomeRNAi; 144363; -.
DR Pharos; Q6IPR1; Tdark.
DR PRO; PR:Q6IPR1; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q6IPR1; protein.
DR Bgee; ENSG00000205707; Expressed in left ventricle myocardium and 190 other tissues.
DR ExpressionAtlas; Q6IPR1; baseline and differential.
DR Genevisible; Q6IPR1; HS.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0022904; P:respiratory electron transport chain; IMP:UniProtKB.
DR CDD; cd20265; Complex1_LYR_ETFRF1_LYRM5; 1.
DR InterPro; IPR008011; Complex1_LYR_dom.
DR InterPro; IPR045296; Complex1_LYR_ETFRF1_LYRM5.
DR Pfam; PF05347; Complex1_LYR; 1.
PE 1: Evidence at protein level;
KW Mitochondrion; Reference proteome.
FT CHAIN 1..90
FT /note="Electron transfer flavoprotein regulatory factor 1"
FT /id="PRO_0000251182"
SQ SEQUENCE 90 AA; 10864 MW; 90530145BEFCBB9D CRC64;
MKMANSLRGE VLKLYKNLLY LGRDYPKGAD YFKKRLKNIF LKNKDVKNPE KIKELIAQGE
FVMKELEALY FLRKYRAMKQ RYYSDTNKTN
