UQCC1_HUMAN
ID UQCC1_HUMAN Reviewed; 299 AA.
AC Q9NVA1; B1AKV5; Q0VF37; Q5T348; Q5T351; Q5T353; Q86YU3; Q86YU4; Q96H66;
AC Q9H438; Q9H452; Q9H9K8; Q9H9R5;
DT 22-FEB-2003, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2010, sequence version 3.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=Ubiquinol-cytochrome-c reductase complex assembly factor 1;
DE AltName: Full=Basic FGF-repressed Zic-binding protein;
DE Short=bFGF-repressed Zic-binding protein;
DE Short=bFZb;
DE AltName: Full=Ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog;
GN Name=UQCC1; Synonyms=BZFB, C20orf44, UQCC;
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 [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 7-266
RP (ISOFORM 4), AND VARIANT GLN-51.
RA Petruzzella V., Patrono C., Zeviani M.;
RT "cDNA encoding the ortholog of the yeast mitochondrial CBP3 gene.";
RL Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 5), AND VARIANT
RP GLN-51.
RC TISSUE=Cerebellum, and Teratocarcinoma;
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].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP GLN-51.
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 [5]
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 [6]
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 [7]
RP VARIANT [LARGE SCALE ANALYSIS] SER-44.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [8]
RP FUNCTION, INTERACTION WITH UQCC2, AND SUBCELLULAR LOCATION.
RX PubMed=24385928; DOI=10.1371/journal.pgen.1004034;
RA Tucker E.J., Wanschers B.F., Szklarczyk R., Mountford H.S.,
RA Wijeyeratne X.W., van den Brand M.A., Leenders A.M., Rodenburg R.J.,
RA Reljic B., Compton A.G., Frazier A.E., Bruno D.L., Christodoulou J.,
RA Endo H., Ryan M.T., Nijtmans L.G., Huynen M.A., Thorburn D.R.;
RT "Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III
RT deficiency associated with perturbed cytochrome b protein expression.";
RL PLoS Genet. 9:E1004034-E1004034(2013).
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). Involved in cytochrome b translation and/or
CC stability. {ECO:0000269|PubMed:24385928}.
CC -!- SUBUNIT: Interacts with UQCC2. {ECO:0000269|PubMed:24385928}.
CC -!- INTERACTION:
CC Q9NVA1; Q86V38: ATN1; NbExp=3; IntAct=EBI-11911675, EBI-11954292;
CC Q9NVA1; P02489: CRYAA; NbExp=3; IntAct=EBI-11911675, EBI-6875961;
CC Q9NVA1; Q92876: KLK6; NbExp=3; IntAct=EBI-11911675, EBI-2432309;
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:24385928}. Cytoplasmic vesicle {ECO:0000250}.
CC Note=Cytoplasmic vesicular structures. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q9NVA1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NVA1-2; Sequence=VSP_000857;
CC Name=3;
CC IsoId=Q9NVA1-3; Sequence=VSP_000855, VSP_000856;
CC Name=4;
CC IsoId=Q9NVA1-4; Sequence=VSP_016027;
CC Name=5;
CC IsoId=Q9NVA1-5; Sequence=VSP_043406;
CC -!- MISCELLANEOUS: [Isoform 4]: May be due to a competing donor splice
CC site. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the CBP3 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAL13119.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB14156.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB14217.1; Type=Miscellaneous discrepancy; Note=Erroneous CDS prediction.; Evidence={ECO:0000305};
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DR EMBL; AY050659; AAL13118.1; -; mRNA.
DR EMBL; AY050660; AAL13119.1; ALT_INIT; mRNA.
DR EMBL; AK001712; BAA91854.1; -; mRNA.
DR EMBL; AK022650; BAB14156.1; ALT_SEQ; mRNA.
DR EMBL; AK022742; BAB14217.1; ALT_SEQ; mRNA.
DR EMBL; AK293516; BAH11526.1; -; mRNA.
DR EMBL; AL121752; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL121753; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; FO393401; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC008871; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC119013; AAI19014.1; -; mRNA.
DR EMBL; BC122862; AAI22863.1; -; mRNA.
DR CCDS; CCDS13252.1; -. [Q9NVA1-1]
DR CCDS; CCDS13253.2; -. [Q9NVA1-2]
DR CCDS; CCDS54458.1; -. [Q9NVA1-5]
DR RefSeq; NP_001171906.1; NM_001184977.1. [Q9NVA1-5]
DR RefSeq; NP_060714.3; NM_018244.4. [Q9NVA1-1]
DR RefSeq; NP_955781.2; NM_199487.2. [Q9NVA1-2]
DR RefSeq; XP_011527184.1; XM_011528882.1.
DR RefSeq; XP_011527185.1; XM_011528883.1.
DR RefSeq; XP_011527186.1; XM_011528884.1.
DR AlphaFoldDB; Q9NVA1; -.
DR SMR; Q9NVA1; -.
DR BioGRID; 120536; 113.
DR IntAct; Q9NVA1; 29.
DR STRING; 9606.ENSP00000363506; -.
DR GlyGen; Q9NVA1; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9NVA1; -.
DR PhosphoSitePlus; Q9NVA1; -.
DR SwissPalm; Q9NVA1; -.
DR BioMuta; UQCC1; -.
DR DMDM; 306526265; -.
DR EPD; Q9NVA1; -.
DR jPOST; Q9NVA1; -.
DR MassIVE; Q9NVA1; -.
DR MaxQB; Q9NVA1; -.
DR PaxDb; Q9NVA1; -.
DR PeptideAtlas; Q9NVA1; -.
DR PRIDE; Q9NVA1; -.
DR ProteomicsDB; 82766; -. [Q9NVA1-1]
DR ProteomicsDB; 82767; -. [Q9NVA1-2]
DR ProteomicsDB; 82768; -. [Q9NVA1-3]
DR ProteomicsDB; 82769; -. [Q9NVA1-4]
DR ProteomicsDB; 82770; -. [Q9NVA1-5]
DR Antibodypedia; 26044; 35 antibodies from 12 providers.
DR DNASU; 55245; -.
DR Ensembl; ENST00000349714.9; ENSP00000335364.6; ENSG00000101019.22. [Q9NVA1-4]
DR Ensembl; ENST00000374380.6; ENSP00000363501.2; ENSG00000101019.22. [Q9NVA1-5]
DR Ensembl; ENST00000374384.6; ENSP00000363505.2; ENSG00000101019.22. [Q9NVA1-2]
DR Ensembl; ENST00000374385.10; ENSP00000363506.5; ENSG00000101019.22. [Q9NVA1-1]
DR GeneID; 55245; -.
DR KEGG; hsa:55245; -.
DR MANE-Select; ENST00000374385.10; ENSP00000363506.5; NM_018244.5; NP_060714.3.
DR UCSC; uc002xcd.4; human. [Q9NVA1-1]
DR CTD; 55245; -.
DR DisGeNET; 55245; -.
DR GeneCards; UQCC1; -.
DR HGNC; HGNC:15891; UQCC1.
DR HPA; ENSG00000101019; Tissue enhanced (skeletal).
DR MIM; 611797; gene.
DR neXtProt; NX_Q9NVA1; -.
DR OpenTargets; ENSG00000101019; -.
DR PharmGKB; PA162408653; -.
DR VEuPathDB; HostDB:ENSG00000101019; -.
DR eggNOG; KOG2873; Eukaryota.
DR GeneTree; ENSGT00390000018118; -.
DR InParanoid; Q9NVA1; -.
DR OMA; QLYYNCA; -.
DR OrthoDB; 1428265at2759; -.
DR PhylomeDB; Q9NVA1; -.
DR TreeFam; TF313220; -.
DR PathwayCommons; Q9NVA1; -.
DR SignaLink; Q9NVA1; -.
DR BioGRID-ORCS; 55245; 101 hits in 1067 CRISPR screens.
DR ChiTaRS; UQCC1; human.
DR GeneWiki; UQCC; -.
DR GenomeRNAi; 55245; -.
DR Pharos; Q9NVA1; Tbio.
DR PRO; PR:Q9NVA1; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9NVA1; protein.
DR Bgee; ENSG00000101019; Expressed in gastrocnemius and 186 other tissues.
DR ExpressionAtlas; Q9NVA1; baseline and differential.
DR Genevisible; Q9NVA1; HS.
DR GO; GO:0031410; C:cytoplasmic vesicle; 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; IDA:UniProtKB.
DR InterPro; IPR021150; Ubiq_cyt_c_chap.
DR InterPro; IPR007129; Ubiqinol_cyt_c_chaperone_CPB3.
DR PANTHER; PTHR12184; PTHR12184; 1.
DR Pfam; PF03981; Ubiq_cyt_C_chap; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasmic vesicle; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome.
FT CHAIN 1..299
FT /note="Ubiquinol-cytochrome-c reductase complex assembly
FT factor 1"
FT /id="PRO_0000206560"
FT VAR_SEQ 1..112
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_000855"
FT VAR_SEQ 44..111
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043406"
FT VAR_SEQ 109..135
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_016027"
FT VAR_SEQ 113..136
FT /note="IKIAALRMYTSCVEKTDFEEFFLR -> MQPIDTCVSYPRTGSVSHFPG
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_000856"
FT VAR_SEQ 192..217
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_000857"
FT VARIANT 44
FT /note="W -> S (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036612"
FT VARIANT 51
FT /note="R -> Q (in dbSNP:rs4911494)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1"
FT /id="VAR_028047"
FT VARIANT 85
FT /note="P -> L (in dbSNP:rs6088810)"
FT /id="VAR_028048"
FT CONFLICT 134
FT /note="F -> L (in Ref. 2; BAB14217 and 4; BC008871)"
FT /evidence="ECO:0000305"
FT CONFLICT 135..136
FT /note="LR -> MG (in Ref. 2; BAB14217)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 299 AA; 34600 MW; EF136391C85E94A2 CRC64;
MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS RACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WKIKIAALRM
YTSCVEKTDF EEFFLRCQMP DTFNSWFLIT LLHVWMCLVR MKQEGRSGKY MCRIIVHFMW
EDVQQRGRVM GVNPYILKKN MILMTNHFYA AILGYDEGIL SDDHGLAAAL WRTFFNRKCE
DPRHLELLVE YVRKQIQYLD SMNGEDLLLT GEVSWRPLVE KNPQSILKPH SPTYNDEGL
