ID:CX6B1_HUMAN DESCRIPTION: RecName: Full=Cytochrome c oxidase subunit 6B1; AltName: Full=Cytochrome c oxidase subunit VIb isoform 1; Short=COX VIb-1; FUNCTION: Connects the two COX monomers into the physiological dimeric form (By similarity). SUBCELLULAR LOCATION: Mitochondrion intermembrane space (By similarity). DISEASE: Defects in COX6B1 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; also known as cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome. SIMILARITY: Belongs to the cytochrome c oxidase subunit 6B family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF02297 - Cytochrome oxidase c subunit VIb
SCOP Domains: 47694 - Cytochrome c oxidase subunit h
ModBase Predicted Comparative 3D Structure on P14854
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC001015 - Homo sapiens cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous), mRNA (cDNA clone MGC:3061 IMAGE:3344701), complete cds. AK312140 - Homo sapiens cDNA, FLJ92423, Homo sapiens cytochrome c oxidase subunit VIb (COX6B), mRNA. D28426 - Homo sapiens mRNA for cytochrome c oxidase VIb, 5'UTR region. BC002478 - Homo sapiens cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous), mRNA (cDNA clone MGC:1153 IMAGE:3347455), complete cds. X54473 - Human mRNA for cytochrome oxidase subunit VIb. X13923 - Human mRNA for cytochrome c oxidase subunit VIb (EC 1.9.3.1). DQ893609 - Synthetic construct clone IMAGE:100006239; FLH181160.01X; RZPDo839A06136D cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous) (COX6B1) gene, encodes complete protein. DQ895078 - Synthetic construct Homo sapiens clone IMAGE:100009538; FLH181156.01L; RZPDo839A06135D cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous) (COX6B1) gene, encodes complete protein. KJ890959 - Synthetic construct Homo sapiens clone ccsbBroadEn_00353 COX6B1 gene, encodes complete protein. KR709746 - Synthetic construct Homo sapiens clone CCSBHm_00005673 COX6B1 (COX6B1) mRNA, encodes complete protein. CR456789 - Homo sapiens full open reading frame cDNA clone RZPDo834G114D for gene COX6B, cytochrome c oxidase subunit VIb; complete cds, incl. stopcodon. CR542137 - Homo sapiens full open reading frame cDNA clone RZPDo834G0123D for gene COX6B, cytochrome c oxidase subunit VIb; complete cds, without stopcodon. BT006945 - Homo sapiens cytochrome c oxidase subunit VIb mRNA, complete cds. JD332557 - Sequence 313581 from Patent EP1572962. JD543720 - Sequence 524744 from Patent EP1572962. JD454768 - Sequence 435792 from Patent EP1572962. JD323163 - Sequence 304187 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCyc Knowledge Library PWY-3781 - aerobic respiration I (cytochrome c)
Reactome (by CSHL, EBI, and GO)
Protein P14854 (Reactome details) participates in the following event(s):
R-HSA-163214 Electron transfer from reduced cytochrome c to molecular oxygen R-HSA-611105 Respiratory electron transport R-HSA-5628897 TP53 Regulates Metabolic Genes R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. R-HSA-3700989 Transcriptional Regulation by TP53 R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport R-HSA-212436 Generic Transcription Pathway R-HSA-1430728 Metabolism R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
