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Aliases for COX6B1 Gene

Aliases for COX6B1 Gene

  • Cytochrome C Oxidase Subunit VIb Polypeptide 1 (Ubiquitous) 2 3
  • COX VIb-1 3 4
  • COX6B 3 4
  • Cytochrome C Oxidase Subunit VIb Isoform 1 4
  • Cytochrome C Oxidase Subunit Vib 2
  • Cytochrome C Oxidase Subunit 6B1 3
  • COXVIb1 3
  • COXG 3

External Ids for COX6B1 Gene

Previous HGNC Symbols for COX6B1 Gene

  • COX6B

Previous GeneCards Identifiers for COX6B1 Gene

  • GC19P040831
  • GC19P036140
  • GC19P032644

Summaries for COX6B1 Gene

Entrez Gene Summary for COX6B1 Gene

  • Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]

GeneCards Summary for COX6B1 Gene

COX6B1 (Cytochrome C Oxidase Subunit VIb Polypeptide 1 (Ubiquitous)) is a Protein Coding gene. Diseases associated with COX6B1 include isolated cytochrome c oxidase deficiency and mitochondrial complex iv deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX6B2.

UniProtKB/Swiss-Prot for COX6B1 Gene

  • Connects the two COX monomers into the physiological dimeric form.

Gene Wiki entry for COX6B1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX6B1 Gene

Genomics for COX6B1 Gene

Regulatory Elements for COX6B1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for COX6B1 Gene

Start:
35,648,223 bp from pter
End:
35,658,861 bp from pter
Size:
10,639 bases
Orientation:
Plus strand

Genomic View for COX6B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COX6B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX6B1 Gene

Proteins for COX6B1 Gene

  • Protein details for COX6B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14854-CX6B1_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 6B1
    Protein Accession:
    P14854
    Secondary Accessions:
    • B2R5C9
    • Q6IBL4

    Protein attributes for COX6B1 Gene

    Size:
    86 amino acids
    Molecular mass:
    10192 Da
    Quaternary structure:
    No Data Available

neXtProt entry for COX6B1 Gene

Proteomics data for COX6B1 Gene at MOPED

Post-translational modifications for COX6B1 Gene

  • Ubiquitination at Lys8 and Lys47
  • Modification sites at PhosphoSitePlus

Other Protein References for COX6B1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for COX6B1 Gene

Domains for COX6B1 Gene

Gene Families for COX6B1 Gene

HGNC:
  • comIV :Mitochondrial respiratory chain complex / Complex IV

Protein Domains for COX6B1 Gene

Suggested Antigen Peptide Sequences for COX6B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P14854

UniProtKB/Swiss-Prot:

CX6B1_HUMAN :
  • P14854
Family:
  • Belongs to the cytochrome c oxidase subunit 6B family.
genes like me logo Genes that share domains with COX6B1: view

Function for COX6B1 Gene

Molecular function for COX6B1 Gene

UniProtKB/Swiss-Prot Function: Connects the two COX monomers into the physiological dimeric form.

Gene Ontology (GO) - Molecular Function for COX6B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity NAS 2172092
genes like me logo Genes that share ontologies with COX6B1: view

Animal Model Products

CRISPR Products

miRNA for COX6B1 Gene

miRTarBase miRNAs that target COX6B1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COX6B1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for COX6B1 Gene

Localization for COX6B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX6B1 Gene

Mitochondrion intermembrane space.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COX6B1 Gene COMPARTMENTS Subcellular localization image for COX6B1 gene
Compartment Confidence
mitochondrion 4
extracellular 3
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for COX6B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005758 mitochondrial intermembrane space IEA --
genes like me logo Genes that share ontologies with COX6B1: view

Pathways for COX6B1 Gene

genes like me logo Genes that share pathways with COX6B1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Mitochondrial Energy Metabolism in human,mouse,rat
    • Molecular Toxicology PathwayFinder 384HT in human,mouse,rat

Gene Ontology (GO) - Biological Process for COX6B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0010467 gene expression TAS --
GO:0021762 substantia nigra development IEP 22926577
GO:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
genes like me logo Genes that share ontologies with COX6B1: view

Compounds for COX6B1 Gene

(2) HMDB Compounds for COX6B1 Gene

Compound Synonyms Cas Number PubMed IDs
Oxygen
  • Oxygen
7782-44-7
Water
  • Dihydrogen oxide
7732-18-5

(2) Drugbank Compounds for COX6B1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cholic Acid
81-25-4 target
N-Formylmethionine
target
genes like me logo Genes that share compounds with COX6B1: view

Transcripts for COX6B1 Gene

mRNA/cDNA for COX6B1 Gene

Unigene Clusters for COX6B1 Gene

Cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COX6B1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COX6B1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4
SP1:
SP2: -

Relevant External Links for COX6B1 Gene

GeneLoc Exon Structure for
COX6B1
ECgene alternative splicing isoforms for
COX6B1

Expression for COX6B1 Gene

mRNA expression in normal human tissues for COX6B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COX6B1 Gene

SOURCE GeneReport for Unigene cluster for COX6B1 Gene Hs.431668

genes like me logo Genes that share expressions with COX6B1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COX6B1 Gene

Orthologs for COX6B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COX6B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX6B1 35
  • 99.61 (n)
  • 100 (a)
COX6B1 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 83 (a)
OneToMany
COX6B1 35
  • 89.15 (n)
  • 84.88 (a)
COX6B1 36
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
LOC612644 35
  • 89.53 (n)
  • 84.88 (a)
mouse
(Mus musculus)
Mammalia Cox6b1 35
  • 85.66 (n)
  • 84.88 (a)
Cox6b1 16
Cox6b1 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COX6B1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COX6B1 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC688869 35
  • 85.66 (n)
  • 84.88 (a)
lizard
(Anolis carolinensis)
Reptilia COX6B1 36
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.34724 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cox6b1 35
  • 66.28 (n)
  • 65.12 (a)
Str.6264 35
zebrafish
(Danio rerio)
Actinopterygii cox6b1 35
  • 69.38 (n)
  • 72.09 (a)
cox6b1 36
  • 72 (a)
OneToOne
wufa92g05 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013092 35
  • 67.14 (n)
  • 63.38 (a)
fruit fly
(Drosophila melanogaster)
Insecta CoVIb 35
  • 64.79 (n)
  • 61.97 (a)
CoVIb 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.5 36
  • 26 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR240C 35
  • 57.49 (n)
  • 56.52 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX12 35
  • 53.81 (n)
  • 48.57 (a)
COX12 36
  • 43 (a)
OneToMany
COX12 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F17281g 35
  • 57.5 (n)
  • 53.75 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons COX6B 35
  • 53.25 (n)
  • 50 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU11339 35
  • 62.63 (n)
  • 54.55 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cox12 35
  • 52.26 (n)
  • 54.32 (a)
Species with no ortholog for COX6B1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COX6B1 Gene

ENSEMBL:
Gene Tree for COX6B1 (if available)
TreeFam:
Gene Tree for COX6B1 (if available)

Paralogs for COX6B1 Gene

Paralogs for COX6B1 Gene

Selected SIMAP similar genes for COX6B1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with COX6B1: view

Variants for COX6B1 Gene

Sequence variations from dbSNP and Humsavar for COX6B1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs7991 Benign 35,651,285(+) AAGAC(C/T)GCCCC reference, synonymous-codon
rs3038413 -- 35,655,755(-) agaga(-/GA/GAGAGAGA)CAggc intron-variant
rs3761090 -- 35,658,548(-) TGAAC(A/G)GATGG intron-variant
rs3761091 -- 35,654,526(-) TGGAA(C/T)ACATT intron-variant
rs3940248 -- 35,648,559(+) acaat(G/T)atacg intron-variant

Relevant External Links for COX6B1 Gene

HapMap Linkage Disequilibrium report
COX6B1
Human Gene Mutation Database (HGMD)
COX6B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for COX6B1 Gene

Disorders for COX6B1 Gene

(1) OMIM Diseases for COX6B1 Gene (124089)

UniProtKB/Swiss-Prot

CX6B1_HUMAN
  • Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: 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, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269 PubMed:18499082}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COX6B1

Genetic Association Database (GAD)
COX6B1
Human Genome Epidemiology (HuGE) Navigator
COX6B1
genes like me logo Genes that share disorders with COX6B1: view

Publications for COX6B1 Gene

  1. Nucleotide sequence of the last exon of the gene for human cytochrome c oxidase subunit VIb and its flanking regions. (PMID: 1647217) Taanman J.-W. … de Vries H. (Biochim. Biophys. Acta 1991) 3 4 23
  2. Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family. (PMID: 1651883) Carrero-Valenzuela R.D. … Forte M.A. (Gene 1991) 3 4 23
  3. Assignment of the gene coding for human cytochrome c oxidase subunit VIb to chromosome 19, band q13.1, by fluorescence in situ hybridisation. (PMID: 1650756) Taanman J.W. … Buys C.H. (Hum. Genet. 1991) 2 3
  4. Isolation of cDNAs encoding subunit VIb of cytochrome c oxidase and steady-state levels of coxVIb mRNA in different tissues. (PMID: 2172092) Taanman J.-W. … Agsteribbe E. (Gene 1990) 3 4
  5. Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase. (PMID: 2537962) Taanman J.-W. … Agsteribbe E. (Nucleic Acids Res. 1989) 3 4

Products for COX6B1 Gene

Sources for COX6B1 Gene

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