CX6B1_HUMAN
ID CX6B1_HUMAN Reviewed; 86 AA.
AC P14854; B2R5C9; Q6IBL4;
DT 01-APR-1990, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 194.
DE RecName: Full=Cytochrome c oxidase subunit 6B1;
DE AltName: Full=Cytochrome c oxidase subunit VIb isoform 1;
DE Short=COX VIb-1;
GN Name=COX6B1; Synonyms=COX6B;
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].
RC TISSUE=Skeletal muscle;
RX PubMed=2537962; DOI=10.1093/nar/17.4.1766;
RA Taanman J.-W., Schrage C., Ponne N.J., Bolhuis P.A., de Vries H.,
RA Agsteribbe E.;
RT "Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c
RT oxidase.";
RL Nucleic Acids Res. 17:1766-1766(1989).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=2172092; DOI=10.1016/0378-1119(90)90237-l;
RA Taanman J.-W., Schrage C., Ponne N.J., Das A.T., Bolhuis P.A., de Vries H.,
RA Agsteribbe E.;
RT "Isolation of cDNAs encoding subunit VIb of cytochrome c oxidase and
RT steady-state levels of coxVIb mRNA in different tissues.";
RL Gene 93:285-291(1990).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=1651883; DOI=10.1016/0378-1119(91)90082-m;
RA Carrero-Valenzuela R.D., Quan F., Lightowlers R.N., Kennaway N.G., Litt M.,
RA Forte M.A.;
RT "Human cytochrome c oxidase subunit VIb: characterization and mapping of a
RT multigene family.";
RL Gene 102:229-236(1991).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P.,
RA Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y.,
RA LaBaer J.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye, and Kidney;
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 [10]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 70-86.
RC TISSUE=Lymphocyte;
RX PubMed=1647217; DOI=10.1016/0167-4781(91)90027-j;
RA Taanman J.-W., Schrage C., Bokma E., Reuvekamp P., Agsteribbe E.,
RA de Vries H.;
RT "Nucleotide sequence of the last exon of the gene for human cytochrome c
RT oxidase subunit VIb and its flanking regions.";
RL Biochim. Biophys. Acta 1089:283-285(1991).
RN [11]
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 [12]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [13]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [14]
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 [15]
RP STRUCTURE BY ELECTRON MICROSCOPY (3.90 ANGSTROMS), AND SUBUNIT.
RX PubMed=28844695; DOI=10.1016/j.cell.2017.07.050;
RA Guo R., Zong S., Wu M., Gu J., Yang M.;
RT "Architecture of human mitochondrial respiratory megacomplex I2III2IV2.";
RL Cell 170:1247-1257(2017).
RN [16]
RP STRUCTURE BY ELECTRON MICROSCOPY (3.60 ANGSTROMS) OF 5-86.
RX PubMed=30030519; DOI=10.1038/s41422-018-0071-1;
RA Zong S., Wu M., Gu J., Liu T., Guo R., Yang M.;
RT "Structure of the intact 14-subunit human cytochrome c oxidase.";
RL Cell Res. 28:1026-1034(2018).
RN [17]
RP VARIANT MC4DN7 HIS-20.
RX PubMed=18499082; DOI=10.1016/j.ajhg.2008.05.002;
RA Massa V., Fernandez-Vizarra E., Alshahwan S., Bakhsh E., Goffrini P.,
RA Ferrero I., Mereghetti P., D'Adamo P., Gasparini P., Zeviani M.;
RT "Severe infantile encephalomyopathy caused by a mutation in COX6B1, a
RT nucleus-encoded subunit of cytochrome c oxidase.";
RL Am. J. Hum. Genet. 82:1281-1289(2008).
RN [18]
RP VARIANT MC4DN7 CYS-20, AND CHARACTERIZATION OF VARIANT MC4DN7 CYS-20.
RX PubMed=24781756; DOI=10.1038/ejhg.2014.85;
RA Abdulhag U.N., Soiferman D., Schueler-Furman O., Miller C., Shaag A.,
RA Elpeleg O., Edvardson S., Saada A.;
RT "Mitochondrial complex IV deficiency, caused by mutated COX6B1, is
RT associated with encephalomyopathy, hydrocephalus and cardiomyopathy.";
RL Eur. J. Hum. Genet. 23:159-164(2015).
CC -!- FUNCTION: Component of the cytochrome c oxidase, the last enzyme in the
CC mitochondrial electron transport chain which drives oxidative
CC phosphorylation. The respiratory chain contains 3 multisubunit
CC complexes succinate dehydrogenase (complex II, CII), ubiquinol-
CC cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III,
CC CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to
CC transfer electrons derived from NADH and succinate to molecular oxygen,
CC creating an electrochemical gradient over the inner membrane that
CC drives transmembrane transport and the ATP synthase. Cytochrome c
CC oxidase is the component of the respiratory chain that catalyzes the
CC reduction of oxygen to water. Electrons originating from reduced
CC cytochrome c in the intermembrane space (IMS) are transferred via the
CC dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1
CC to the active site in subunit 1, a binuclear center (BNC) formed by
CC heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2
CC water molecules using 4 electrons from cytochrome c in the IMS and 4
CC protons from the mitochondrial matrix. {ECO:0000250|UniProtKB:Q01519}.
CC -!- PATHWAY: Energy metabolism; oxidative phosphorylation.
CC {ECO:0000250|UniProtKB:Q01519}.
CC -!- SUBUNIT: Component of the cytochrome c oxidase (complex IV, CIV), a
CC multisubunit enzyme composed of 14 subunits. The complex is composed of
CC a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in
CC the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or
CC COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C,
CC COX7A2 (or COX7A1), COX7B, COX7C, COX8A and NDUFA4, which are encoded
CC in the nuclear genome (PubMed:30030519). The complex exists as a
CC monomer or a dimer and forms supercomplexes (SCs) in the inner
CC mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I,
CC CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex,
CC complex III, CIII), resulting in different assemblies (supercomplex
CC SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695).
CC {ECO:0000269|PubMed:28844695, ECO:0000269|PubMed:30030519}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:30030519}; Peripheral membrane protein
CC {ECO:0000269|PubMed:30030519}; Intermembrane side
CC {ECO:0000269|PubMed:30030519}.
CC -!- DISEASE: Mitochondrial complex IV deficiency, nuclear type 7 (MC4DN7)
CC [MIM:619051]: An autosomal recessive mitochondrial disorder
CC characterized by encephalomyopathy resulting in variable clinical
CC manifestations. Features include muscle weakness, gait disturbances,
CC neurodegeneration, cognitive decline, metabolic acidosis, feeding
CC difficulties, poor overall growth, cortical visual impairment, and
CC hypertrophic cardiomyopathy. Serum lactate levels are increased.
CC Patient tissues show decreased levels and activity of mitochondrial
CC respiratory complex IV. {ECO:0000269|PubMed:18499082,
CC ECO:0000269|PubMed:24781756}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the cytochrome c oxidase subunit 6B family.
CC {ECO:0000305}.
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DR EMBL; X13923; CAA32114.1; -; mRNA.
DR EMBL; X54473; CAA38352.1; -; mRNA.
DR EMBL; AK312140; BAG35076.1; -; mRNA.
DR EMBL; BT006945; AAP35591.1; -; mRNA.
DR EMBL; CR456789; CAG33070.1; -; mRNA.
DR EMBL; CR542137; CAG46934.1; -; mRNA.
DR EMBL; AC002115; AAB57628.1; -; Genomic_DNA.
DR EMBL; BC001015; AAH01015.1; -; mRNA.
DR EMBL; BC002478; AAH02478.1; -; mRNA.
DR EMBL; X58139; CAA41147.1; -; Genomic_DNA.
DR CCDS; CCDS12469.1; -.
DR PIR; S03287; OGHU6B.
DR RefSeq; NP_001854.1; NM_001863.4.
DR PDB; 5Z62; EM; 3.60 A; H=5-86.
DR PDBsum; 5Z62; -.
DR AlphaFoldDB; P14854; -.
DR SMR; P14854; -.
DR BioGRID; 107733; 97.
DR ComplexPortal; CPX-6123; Mitochondrial respiratory chain complex IV.
DR IntAct; P14854; 67.
DR MINT; P14854; -.
DR STRING; 9606.ENSP00000246554; -.
DR DrugBank; DB02659; Cholic Acid.
DR DrugBank; DB04464; N-Formylmethionine.
DR GlyGen; P14854; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P14854; -.
DR PhosphoSitePlus; P14854; -.
DR BioMuta; COX6B1; -.
DR DMDM; 117115; -.
DR EPD; P14854; -.
DR jPOST; P14854; -.
DR MassIVE; P14854; -.
DR MaxQB; P14854; -.
DR PaxDb; P14854; -.
DR PeptideAtlas; P14854; -.
DR PRIDE; P14854; -.
DR ProteomicsDB; 53084; -.
DR TopDownProteomics; P14854; -.
DR Antibodypedia; 1083; 318 antibodies from 32 providers.
DR DNASU; 1340; -.
DR Ensembl; ENST00000392201.1; ENSP00000376037.2; ENSG00000126267.11.
DR Ensembl; ENST00000592141.6; ENSP00000466818.2; ENSG00000126267.11.
DR Ensembl; ENST00000649813.2; ENSP00000497926.1; ENSG00000126267.11.
DR GeneID; 1340; -.
DR KEGG; hsa:1340; -.
DR MANE-Select; ENST00000649813.2; ENSP00000497926.1; NM_001863.5; NP_001854.1.
DR UCSC; uc002oav.4; human.
DR CTD; 1340; -.
DR DisGeNET; 1340; -.
DR GeneCards; COX6B1; -.
DR HGNC; HGNC:2280; COX6B1.
DR HPA; ENSG00000126267; Tissue enhanced (tongue).
DR MalaCards; COX6B1; -.
DR MIM; 124089; gene.
DR MIM; 619051; phenotype.
DR neXtProt; NX_P14854; -.
DR OpenTargets; ENSG00000126267; -.
DR Orphanet; 254905; Isolated cytochrome C oxidase deficiency.
DR PharmGKB; PA26797; -.
DR VEuPathDB; HostDB:ENSG00000126267; -.
DR eggNOG; KOG3057; Eukaryota.
DR GeneTree; ENSGT00940000156204; -.
DR HOGENOM; CLU_133964_3_1_1; -.
DR InParanoid; P14854; -.
DR OMA; CPNEWIA; -.
DR OrthoDB; 1586678at2759; -.
DR PhylomeDB; P14854; -.
DR TreeFam; TF105065; -.
DR BioCyc; MetaCyc:HS05010-MON; -.
DR PathwayCommons; P14854; -.
DR Reactome; R-HSA-5628897; TP53 Regulates Metabolic Genes.
DR Reactome; R-HSA-611105; Respiratory electron transport.
DR Reactome; R-HSA-9707564; Cytoprotection by HMOX1.
DR SignaLink; P14854; -.
DR SIGNOR; P14854; -.
DR UniPathway; UPA00705; -.
DR BioGRID-ORCS; 1340; 225 hits in 1073 CRISPR screens.
DR ChiTaRS; COX6B1; human.
DR GeneWiki; COX6B1; -.
DR GenomeRNAi; 1340; -.
DR Pharos; P14854; Tbio.
DR PRO; PR:P14854; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; P14854; protein.
DR Bgee; ENSG00000126267; Expressed in apex of heart and 206 other tissues.
DR ExpressionAtlas; P14854; baseline and differential.
DR Genevisible; P14854; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; IBA:GO_Central.
DR GO; GO:0031966; C:mitochondrial membrane; IDA:ComplexPortal.
DR GO; GO:0005751; C:mitochondrial respiratory chain complex IV; IPI:ComplexPortal.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0045277; C:respiratory chain complex IV; IBA:GO_Central.
DR GO; GO:0004129; F:cytochrome-c oxidase activity; NAS:UniProtKB.
DR GO; GO:0045333; P:cellular respiration; IC:ComplexPortal.
DR GO; GO:0006123; P:mitochondrial electron transport, cytochrome c to oxygen; IC:ComplexPortal.
DR GO; GO:0021762; P:substantia nigra development; HEP:UniProtKB.
DR CDD; cd00926; Cyt_c_Oxidase_VIb; 1.
DR Gene3D; 1.10.10.140; -; 1.
DR InterPro; IPR003213; Cyt_c_oxidase_su6B.
DR InterPro; IPR036549; Cyt_c_oxidase_su6B_sf.
DR PANTHER; PTHR11387; PTHR11387; 1.
DR Pfam; PF02297; COX6B; 1.
DR PIRSF; PIRSF000278; Cyt_c_oxidase_6B; 1.
DR SUPFAM; SSF47694; SSF47694; 1.
DR PROSITE; PS51808; CHCH; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Disease variant; Disulfide bond; Membrane;
KW Mitochondrion; Mitochondrion inner membrane; Primary mitochondrial disease;
KW Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:22814378"
FT CHAIN 2..86
FT /note="Cytochrome c oxidase subunit 6B1"
FT /id="PRO_0000194912"
FT DOMAIN 27..73
FT /note="CHCH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 30..40
FT /note="Cx9C motif"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 54..65
FT /note="Cx10C motif"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT DISULFID 30..65
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT DISULFID 40..54
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT VARIANT 20
FT /note="R -> C (in MC4DN7; severely reduced COX6B1 protein
FT levels in patient muscle)"
FT /evidence="ECO:0000269|PubMed:24781756"
FT /id="VAR_084178"
FT VARIANT 20
FT /note="R -> H (in MC4DN7; dbSNP:rs121909602)"
FT /evidence="ECO:0000269|PubMed:18499082"
FT /id="VAR_046775"
SQ SEQUENCE 86 AA; 10192 MW; 15C8B056491FB248 CRC64;
MAEDMETKIK NYKTAPFDSR FPNQNQTRNC WQNYLDFHRC QKAMTAKGGD ISVCEWYQRV
YQSLCPTSWV TDWDEQRAEG TFPGKI
