Entry sw:UQCC3_HUMAN

ID   UQCC3_HUMAN             Reviewed;          93 AA.
AC   Q6UW78; Q5FVD5;
DT   23-NOV-2004, integrated into UniProtKB/Swiss-Prot.
DT   18-MAY-2010, sequence version 2.
DT   02-NOV-2016, entry version 96.
DE   RecName: Full=Ubiquinol-cytochrome-c reductase complex assembly factor 3 {ECO:0000312|HGNC:HGNC:34399};
DE   AltName: Full=Assembly factor CBP4 homolog {ECO:0000303|PubMed:25008109};
GN   Name=UQCC3 {ECO:0000312|HGNC:HGNC:34399};
GN   Synonyms=C11orf83 {ECO:0000312|HGNC:HGNC:34399};
GN   ORFNames=UNQ655/PRO1286;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX   PubMed=12975309; DOI=10.1101/gr.1293003;
RA   Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA   Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA   Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
RA   Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA   Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA   Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA   Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA   Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA   Wood W.I., Godowski P.J., Gray A.M.;
RT   "The secreted protein discovery initiative (SPDI), a large-scale
RT   effort to identify novel human secreted and transmembrane proteins: a
RT   bioinformatics assessment.";
RL   Genome Res. 13:2265-2270(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16554811; DOI=10.1038/nature04632;
RA   Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA   Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
RA   Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
RA   FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
RA   Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
RA   Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
RA   Sakaki Y.;
RT   "Human chromosome 11 DNA sequence and analysis including novel gene
RT   identification.";
RL   Nature 440:497-500(2006).
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   PROTEIN SEQUENCE OF 24-37, AND CAUTION.
RX   PubMed=15340161; DOI=10.1110/ps.04682504;
RA   Zhang Z., Henzel W.J.;
RT   "Signal peptide prediction based on analysis of experimentally
RT   verified cleavage sites.";
RL   Protein Sci. 13:2819-2824(2004).
RN   [5]
RP   INVOLVEMENT IN MC3DN9, FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY,
RP   CAUTION, AND VARIANT MC3DN9 GLU-20.
RX   PubMed=25008109; DOI=10.1093/hmg/ddu357;
RA   Wanschers B.F., Szklarczyk R., van den Brand M.A., Jonckheere A.,
RA   Suijskens J., Smeets R., Rodenburg R.J., Stephan K., Helland I.B.,
RA   Elkamil A., Rootwelt T., Ott M., van den Heuvel L., Nijtmans L.G.,
RA   Huynen M.A.;
RT   "A mutation in the human CBP4 ortholog UQCC3 impairs complex III
RT   assembly, activity and cytochrome b stability.";
RL   Hum. Mol. Genet. 23:6356-6365(2014).
RN   [6]
RP   FUNCTION, LIPID-BINDING, SUBUNIT, SUBCELLULAR LOCATION, TOPOLOGY,
RP   PROTEOLYTIC PROCESSING, CAUTION, MUTAGENESIS OF 5-ARG-LYS-6, AND
RP   REGION.
RX   PubMed=25605331; DOI=10.1128/MCB.01047-14;
RA   Desmurs M., Foti M., Raemy E., Vaz F.M., Martinou J.C., Bairoch A.,
RA   Lane L.;
RT   "C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1
RT   complex assembly and supercomplex stabilization.";
RL   Mol. Cell. Biol. 35:1139-1156(2015).
CC   -!- FUNCTION: Required for the assembly of the ubiquinol-cytochrome c
CC       reductase complex (mitochondrial respiratory chain complex III or
CC       cytochrome b-c1 complex), mediating cytochrome b recruitment and
CC       probably stabilization within the complex. Thereby, plays an
CC       important role in ATP production by mitochondria. Cardiolipin-
CC       binding protein, it may also control the cardiolipin composition
CC       of mitochondria membranes and their morphology.
CC       {ECO:0000269|PubMed:25008109, ECO:0000269|PubMed:25605331}.
CC   -!- SUBUNIT: Associates with the ubiquinol-cytochrome c reductase
CC       complex (mitochondrial respiratory chain complex III or cytochrome
CC       b-c1 complex). {ECO:0000269|PubMed:25605331}.
CC   -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC       {ECO:0000269|PubMed:25008109, ECO:0000269|PubMed:25605331};
CC       Single-pass membrane protein {ECO:0000269|PubMed:25008109,
CC       ECO:0000269|PubMed:25605331}.
CC   -!- PTM: Probably cleaved by OMA1 under mitochondrial stress
CC       conditions. {ECO:0000269|PubMed:25605331}.
CC   -!- DISEASE: Mitochondrial complex III deficiency, nuclear 9 (MC3DN9)
CC       [MIM:616111]: A form of mitochondrial complex III deficiency, a
CC       disorder of the mitochondrial respiratory chain resulting in a
CC       highly variable phenotype depending on which tissues are affected.
CC       MC3DN9 clinical features include feeding difficulties,
CC       hypoglycemia, severe lactic acidosis, and delayed psychomotor
CC       development. {ECO:0000269|PubMed:25008109}. Note=The disease is
CC       caused by mutations affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the UQCC3 family. {ECO:0000305}.
CC   -!- CAUTION: Was initially reported to be secreted (PubMed:15340161).
CC       However, it was later shown to be localized in the inner
CC       mitochondrial membrane (PubMed:25008109, PubMed:25605331).
CC       {ECO:0000269|PubMed:25008109, ECO:0000269|PubMed:25605331,
CC       ECO:0000303|PubMed:15340161}.
DR   EMBL; AY358935; AAQ89294.1; -; mRNA.
DR   EMBL; AP001458; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC090057; AAH90057.1; -; mRNA.
DR   CCDS; CCDS41658.1; -.
DR   RefSeq; NP_001078841.1; NM_001085372.2.
DR   UniGene; Hs.569009; -.
DR   ProteinModelPortal; Q6UW78; -.
DR   BioGrid; 612915; 6.
DR   STRING; 9606.ENSP00000367189; -.
DR   iPTMnet; Q6UW78; -.
DR   PhosphoSitePlus; Q6UW78; -.
DR   BioMuta; C11orf83; -.
DR   DMDM; 296434449; -.
DR   EPD; Q6UW78; -.
DR   MaxQB; Q6UW78; -.
DR   PaxDb; Q6UW78; -.
DR   PeptideAtlas; Q6UW78; -.
DR   PRIDE; Q6UW78; -.
DR   TopDownProteomics; Q6UW78; -.
DR   Ensembl; ENST00000377953; ENSP00000367189; ENSG00000204922.
DR   Ensembl; ENST00000531323; ENSP00000432692; ENSG00000204922.
DR   GeneID; 790955; -.
DR   KEGG; hsa:790955; -.
DR   UCSC; uc001nui.5; human.
DR   CTD; 790955; -.
DR   DisGeNET; 790955; -.
DR   GeneCards; UQCC3; -.
DR   H-InvDB; HIX0035944; -.
DR   HGNC; HGNC:34399; UQCC3.
DR   HPA; HPA046851; -.
DR   MIM; 616097; gene.
DR   MIM; 616111; phenotype.
DR   neXtProt; NX_Q6UW78; -.
DR   OpenTargets; ENSG00000204922; -.
DR   Orphanet; 1460; Isolated CoQ-cytochrome C reductase deficiency.
DR   PharmGKB; PA162377760; -.
DR   eggNOG; ENOG410J2F0; Eukaryota.
DR   eggNOG; ENOG41118KV; LUCA.
DR   GeneTree; ENSGT00390000001930; -.
DR   HOGENOM; HOG000111740; -.
DR   InParanoid; Q6UW78; -.
DR   OMA; QAMLKEM; -.
DR   PhylomeDB; Q6UW78; -.
DR   TreeFam; TF339744; -.
DR   BioCyc; ZFISH:G66-31001-MONOMER; -.
DR   ChiTaRS; C11orf83; human.
DR   GenomeRNAi; 790955; -.
DR   PRO; PR:Q6UW78; -.
DR   Proteomes; UP000005640; Chromosome 11.
DR   Bgee; ENSG00000204922; -.
DR   CleanEx; HS_C11orf83; -.
DR   Genevisible; Q6UW78; HS.
DR   GO; GO:0031305; C:integral component of mitochondrial inner membrane; IDA:UniProtKB.
DR   GO; GO:1901612; F:cardiolipin binding; IDA:UniProtKB.
DR   GO; GO:0070300; F:phosphatidic acid binding; IDA:UniProtKB.
DR   GO; GO:0006754; P:ATP biosynthetic process; IEA:UniProtKB-KW.
DR   GO; GO:0042407; P:cristae formation; IMP:UniProtKB.
DR   GO; GO:0006122; P:mitochondrial electron transport, ubiquinol to cytochrome c; IMP:UniProtKB.
DR   GO; GO:0034551; P:mitochondrial respiratory chain complex III assembly; IMP:UniProtKB.
DR   GO; GO:0097033; P:mitochondrial respiratory chain complex III biogenesis; IMP:UniProtKB.
DR   InterPro; IPR027896; DUF4574.
DR   Pfam; PF15141; DUF4574; 1.
PE   1: Evidence at protein level;
KW   ATP synthesis; Complete proteome; Direct protein sequencing;
KW   Disease mutation; Membrane; Mitochondrion;
KW   Mitochondrion inner membrane; Reference proteome; Transmembrane;
KW   Transmembrane helix.
FT   CHAIN         1     93       Ubiquinol-cytochrome-c reductase complex
FT                                assembly factor 3.
FT                                /FTId=PRO_0000022611.
FT   TOPO_DOM      1      7       Mitochondrial matrix. {ECO:0000255,
FT                                ECO:0000303|PubMed:25008109}.
FT   TRANSMEM      8     28       Helical. {ECO:0000255}.
FT   TOPO_DOM     29     93       Mitochondrial intermembrane.
FT                                {ECO:0000255,
FT                                ECO:0000269|PubMed:25008109,
FT                                ECO:0000269|PubMed:25605331}.
FT   REGION       23     80       Mediates lipid-binding.
FT                                {ECO:0000269|PubMed:25605331}.
FT   VARIANT      20     20       V -> E (in MC3DN9; decreases protein
FT                                abundance; reduces complex III formation;
FT                                reduces complex III activity;
FT                                dbSNP:rs606231426).
FT                                {ECO:0000269|PubMed:25008109}.
FT                                /FTId=VAR_071864.
FT   MUTAGEN       5      6       RK->AA,DD: Loss of localization to the
FT                                mitochondria.
FT                                {ECO:0000269|PubMed:25605331}.
FT   CONFLICT     89     89       G -> S (in Ref. 1; AAQ89294 and 3;
FT                                AAH90057). {ECO:0000305}.
CC   --------------------------------------------------------------------------
CC   The following FT lines are automated annotations from the MyHits database.
CC   --------------------------------------------------------------------------
FT   MYHIT         1     83       ipfam:DUF4574 [T]
SQ   SEQUENCE   93 AA;  10081 MW;  7E65D81280196F93 CRC64;
     MDSLRKMLIS VAMLGAGAGV GYALLVIVTP GERRKQEMLK EMPLQDPRSR EEAARTQQLL
     LATLQEAATT QENVAWRKNW MVGGEGGAGG RSP
//