LYRM7_HUMAN
ID LYRM7_HUMAN Reviewed; 104 AA.
AC Q5U5X0; A8MPQ9; Q86Y68;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Complex III assembly factor LYRM7;
DE AltName: Full=LYR motif-containing protein 7;
GN Name=LYRM7; Synonyms=C5orf31, MZM1L;
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=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
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=Brain;
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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [5]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=23168492; DOI=10.1016/j.bbabio.2012.11.003;
RA Sanchez E., Lobo T., Fox J.L., Zeviani M., Winge D.R.,
RA Fernandez-Vizarra E.;
RT "LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of
RT mitochondrial Complex III assembly in human cells.";
RL Biochim. Biophys. Acta 1827:285-293(2013).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-60, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [8]
RP VARIANT MC3DN8 ASN-25, AND CHARACTERIZATION OF VARIANT MC3DN8 ASN-25.
RX PubMed=24014394; DOI=10.1002/humu.22441;
RA Invernizzi F., Tigano M., Dallabona C., Donnini C., Ferrero I.,
RA Cremonte M., Ghezzi D., Lamperti C., Zeviani M.;
RT "A homozygous mutation in LYRM7/MZM1L associated with early onset
RT encephalopathy, lactic acidosis, and severe reduction of mitochondrial
RT complex III activity.";
RL Hum. Mutat. 34:1619-1622(2013).
CC -!- FUNCTION: Assembly factor required for Rieske Fe-S protein UQCRFS1
CC incorporation into the cytochrome b-c1 (CIII) complex. Functions as a
CC chaperone, binding to this subunit within the mitochondrial matrix and
CC stabilizing it prior to its translocation and insertion into the late
CC CIII dimeric intermediate within the mitochondrial inner membrane.
CC {ECO:0000269|PubMed:23168492}.
CC -!- SUBUNIT: Interacts with UQCRFS1.
CC -!- INTERACTION:
CC Q5U5X0; Q8IWL3: HSCB; NbExp=7; IntAct=EBI-13943106, EBI-1805738;
CC Q5U5X0; P21673: SAT1; NbExp=3; IntAct=EBI-13943106, EBI-711613;
CC Q5U5X0; P47985: UQCRFS1; NbExp=14; IntAct=EBI-13943106, EBI-1045520;
CC -!- SUBCELLULAR LOCATION: Mitochondrion matrix
CC {ECO:0000269|PubMed:23168492}.
CC -!- DISEASE: Mitochondrial complex III deficiency, nuclear 8 (MC3DN8)
CC [MIM:615838]: A form of mitochondrial complex III deficiency, a
CC disorder of the mitochondrial respiratory chain resulting in a highly
CC variable phenotype depending on which tissues are affected. Clinical
CC features include mitochondrial encephalopathy, psychomotor retardation,
CC ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy,
CC muscle weakness and exercise intolerance.
CC {ECO:0000269|PubMed:24014394}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the complex I LYR family. {ECO:0000305}.
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DR EMBL; AC004650; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC005179; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471062; EAW62375.1; -; Genomic_DNA.
DR EMBL; BC037930; AAH37930.1; -; mRNA.
DR EMBL; BC047079; AAH47079.1; -; mRNA.
DR CCDS; CCDS4148.1; -.
DR RefSeq; NP_859056.2; NM_181705.3.
DR AlphaFoldDB; Q5U5X0; -.
DR SMR; Q5U5X0; -.
DR BioGRID; 124742; 50.
DR DIP; DIP-62113N; -.
DR IntAct; Q5U5X0; 24.
DR STRING; 9606.ENSP00000368688; -.
DR GlyGen; Q5U5X0; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q5U5X0; -.
DR PhosphoSitePlus; Q5U5X0; -.
DR BioMuta; LYRM7; -.
DR DMDM; 74736191; -.
DR EPD; Q5U5X0; -.
DR jPOST; Q5U5X0; -.
DR MassIVE; Q5U5X0; -.
DR MaxQB; Q5U5X0; -.
DR PaxDb; Q5U5X0; -.
DR PeptideAtlas; Q5U5X0; -.
DR PRIDE; Q5U5X0; -.
DR ProteomicsDB; 65232; -.
DR TopDownProteomics; Q5U5X0; -.
DR Antibodypedia; 63813; 16 antibodies from 10 providers.
DR DNASU; 90624; -.
DR Ensembl; ENST00000379380.9; ENSP00000368688.4; ENSG00000186687.16.
DR GeneID; 90624; -.
DR KEGG; hsa:90624; -.
DR MANE-Select; ENST00000379380.9; ENSP00000368688.4; NM_181705.4; NP_859056.2.
DR UCSC; uc003kvg.2; human.
DR CTD; 90624; -.
DR DisGeNET; 90624; -.
DR GeneCards; LYRM7; -.
DR HGNC; HGNC:28072; LYRM7.
DR HPA; ENSG00000186687; Tissue enhanced (tongue).
DR MalaCards; LYRM7; -.
DR MIM; 615831; gene.
DR MIM; 615838; phenotype.
DR neXtProt; NX_Q5U5X0; -.
DR OpenTargets; ENSG00000186687; -.
DR Orphanet; 1460; Isolated complex III deficiency.
DR PharmGKB; PA162394784; -.
DR VEuPathDB; HostDB:ENSG00000186687; -.
DR eggNOG; ENOG502S5FU; Eukaryota.
DR GeneTree; ENSGT00390000017923; -.
DR HOGENOM; CLU_147114_1_1_1; -.
DR InParanoid; Q5U5X0; -.
DR OMA; QNRNETN; -.
DR OrthoDB; 1585902at2759; -.
DR PhylomeDB; Q5U5X0; -.
DR TreeFam; TF324418; -.
DR PathwayCommons; Q5U5X0; -.
DR SignaLink; Q5U5X0; -.
DR BioGRID-ORCS; 90624; 53 hits in 1062 CRISPR screens.
DR GenomeRNAi; 90624; -.
DR Pharos; Q5U5X0; Tbio.
DR PRO; PR:Q5U5X0; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q5U5X0; protein.
DR Bgee; ENSG00000186687; Expressed in left ventricle myocardium and 198 other tissues.
DR ExpressionAtlas; Q5U5X0; baseline and differential.
DR Genevisible; Q5U5X0; HS.
DR GO; GO:0005759; C:mitochondrial matrix; IDA:UniProtKB.
DR GO; GO:0031966; C:mitochondrial membrane; IDA:UniProtKB.
DR GO; GO:0044183; F:protein folding chaperone; IBA:GO_Central.
DR GO; GO:0045333; P:cellular respiration; IDA:UniProtKB.
DR GO; GO:0034551; P:mitochondrial respiratory chain complex III assembly; IDA:UniProtKB.
DR CDD; cd20267; Complex1_LYR_LYRM7; 1.
DR InterPro; IPR008011; Complex1_LYR_dom.
DR InterPro; IPR045298; Complex1_LYR_LYRM7.
DR Pfam; PF05347; Complex1_LYR; 1.
PE 1: Evidence at protein level;
KW Chaperone; Disease variant; Mitochondrion; Phosphoprotein;
KW Primary mitochondrial disease; Reference proteome.
FT CHAIN 1..104
FT /note="Complex III assembly factor LYRM7"
FT /id="PRO_0000251179"
FT MOD_RES 60
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 25
FT /note="D -> N (in MC3DN8; results in impaired incorporation
FT of the Rieske Fe-S protein into the CIII complex;
FT dbSNP:rs587777433)"
FT /evidence="ECO:0000269|PubMed:24014394"
FT /id="VAR_071187"
FT CONFLICT 62
FT /note="V -> I (in Ref. 3; AAH47079)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 104 AA; 11955 MW; D112A2F54EFC7BCD CRC64;
MGRAVKVLQL FKTLHRTRQQ VFKNDARALE AARIKINEEF KNNKSETSSK KIEELMKIGS
DVELLLRTSV IQGIHTDHNT LKLVPRKDLL VENVPYCDAP TQKQ
