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Aliases for COX6B1 Gene

Aliases for COX6B1 Gene

  • Cytochrome C Oxidase Subunit 6B1 2 3 5
  • 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
  • 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
  • GC19P035696
  • GC19P035821
  • GC19P035844
  • GC19P035999
  • GC19P036166

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 6B1) is a Protein Coding gene. Diseases associated with COX6B1 include Mitochondrial Complex Iv Deficiency and Encephalomyopathy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX6B1 Gene

Genomics for COX6B1 Gene

Regulatory Elements for COX6B1 Gene

Enhancers for COX6B1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G035701 2 FANTOM5 Ensembl ENCODE dbSUPER 29.9 +54.4 54378 1.6 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZNF416 ZNF143 ZNF548 FOS ZNF567 TMEM147-AS1 U2AF1L4 HAUS5 ZNF792 KMT2B RBM42 COX6B1 ZNF146 LRFN3
GH19G035710 2 FANTOM5 Ensembl ENCODE dbSUPER 28.7 +67.0 66970 10.0 CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 TBX21 ZFP41 ZFP82 ZNF529 U2AF1L4 TMEM147-AS1 LINC00665 ZNF461 ZNF567 COX6B1 ZNF792 ZNF529-AS1
GH19G035753 1.4 ENCODE dbSUPER 27.2 +108.0 108035 6.4 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 U2AF1L4 COX6B1 ZBTB32 ENSG00000267049 HSPB6 GC19M038228
GH19G035749 1.2 FANTOM5 Ensembl ENCODE 28.2 +102.2 102218 1.2 ZNF362 SIN3A ZEB2 ZNF394 ZNF645 DPF2 HIC1 POLR2A ZNF658 CREB1 COX6B1 U2AF1L4 UPK1A LRFN3 MAG GC19M038234 ENSG00000267439
GH19G035739 1.1 ENCODE 25.5 +93.2 93206 3.9 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B U2AF1L4 COX6B1 TMEM147-AS1 ENSG00000267049 ENSG00000268947 UPK1A PIR61488 IGFLR1 GC19P036333
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COX6B1 on UCSC Golden Path with GeneCards custom track

Promoters for COX6B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109046 277 1401 CREB3L1 AGO1 DMAP1 FEZF1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3

Genomic Location for COX6B1 Gene

Chromosome:
19
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

Genes around COX6B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX6B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for COX6B1 Gene

  • Ubiquitination at isoforms=47
  • Modification sites at PhosphoSitePlus

Other Protein References for COX6B1 Gene

No data available for DME Specific Peptides for COX6B1 Gene

Domains & Families for COX6B1 Gene

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

Human Phenotype Ontology for COX6B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for COX6B1 Gene

miRTarBase miRNAs that target COX6B1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COX6B1 gene
Compartment Confidence
mitochondrion 5
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 IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005758 mitochondrial intermembrane space IEA --
genes like me logo Genes that share ontologies with COX6B1: view

Pathways & Interactions for COX6B1 Gene

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

Gene Ontology (GO) - Biological Process for COX6B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen TAS --
GO:0021762 substantia nigra development IEP 22926577
GO:1902600 hydrogen ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with COX6B1: view

No data available for SIGNOR curated interactions for COX6B1 Gene

Drugs & Compounds for COX6B1 Gene

(4) Drugs for COX6B1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Full agonist, Agonist, Target 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
N-Formylmethionine Experimental Pharma Target 0
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

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for COX6B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COX6B1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.3) and Liver, secretome (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COX6B1 Gene



Protein tissue co-expression partners for COX6B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COX6B1 Gene:

COX6B1

SOURCE GeneReport for Unigene cluster for COX6B1 Gene:

Hs.431668

Evidence on tissue expression from TISSUES for COX6B1 Gene

  • Nervous system(4.8)
  • Muscle(4.7)
  • Liver(4.6)
  • Kidney(4.5)
  • Blood(4.4)
  • Eye(4.3)
  • Heart(3)
  • Stomach(2.4)
  • Skin(2.3)
  • Intestine(2.1)
  • Bone marrow(2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COX6B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • bronchus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with COX6B1: view

Primer 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 34 35
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia LOC612644 34
  • 89.53 (n)
-- 35
  • 85 (a)
OneToMany
-- 35
  • 76 (a)
OneToMany
cow
(Bos Taurus)
Mammalia COX6B1 34 35
  • 89.15 (n)
-- 35
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cox6b1 34 16 35
  • 85.66 (n)
rat
(Rattus norvegicus)
Mammalia LOC688869 34
  • 85.66 (n)
oppossum
(Monodelphis domestica)
Mammalia COX6B1 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COX6B1 35
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COX6B1 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cox6b1 34
  • 66.28 (n)
Str.6264 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.34724 34
zebrafish
(Danio rerio)
Actinopterygii cox6b1 34 35
  • 69.38 (n)
wufa92g05 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013092 34
  • 67.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CoVIb 34 35
  • 64.79 (n)
worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.5 35
  • 26 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F17281g 34
  • 57.5 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR240C 34
  • 57.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX12 34 35 37
  • 53.81 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons COX6B 34
  • 53.25 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU11339 34
  • 62.63 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cox12 34
  • 52.26 (n)
Species where no ortholog for COX6B1 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs121909602 Pathogenic, Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] 35,651,302(+) CAGCC(A/G)CTTCC reference, missense
rs778740017 Pathogenic 35,651,301(+) ACAGC(C/T)GCTTC reference, missense
rs10420252 Likely benign 35,648,270(+) GAGCT(A/G)AAGCC utr-variant-5-prime
rs7991 Likely benign 35,651,285(+) AAGAC(C/T)GCCCC reference, synonymous-codon
rs111638609 Uncertain significance 35,658,633(+) CGTTT(C/T)CCGGG reference, missense

Variation tolerance for COX6B1 Gene

Residual Variation Intolerance Score: 52.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COX6B1 Gene

Human Gene Mutation Database (HGMD)
COX6B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

MalaCards: The human disease database

(3) MalaCards diseases for COX6B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
encephalomyopathy
  • mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COX6B1
genes like me logo Genes that share disorders with COX6B1: view

No data available for Genatlas for COX6B1 Gene

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 22 64
  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 22 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. (PMID: 18499082) Massa V. … Zeviani M. (Am. J. Hum. Genet. 2008) 3 4 64
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4 64

Products for COX6B1 Gene

Sources for COX6B1 Gene

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