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Aliases for COX6B1 Gene

Aliases for COX6B1 Gene

  • Cytochrome C Oxidase Subunit 6B1 2 3 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 Polypeptide 1 (Ubiquitous) 2
  • 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
  • GC19P036238
  • GC19P036408
  • GC19P036569

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 Gene Expression and Metabolism. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for COX6B1 Gene

Promoters and enhancers for COX6B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J035641 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 659.9 -4.7 -4693 4.6 MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 ETV2 COX6B1 KMT2B RBM42 TMEM147-AS1 PROSER3 ZNF792 HAUS5 ZNF529 ZNF566
GH19J035647 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.3 327 1.9 PKNOX1 ARID4B SIN3A ZNF2 IRF4 YY1 POLR2B E2F8 ZNF416 ZNF143 COX6B1 KMT2B PROSER3 TMEM147-AS1 RBM42 HAUS5 LINC01766 ZBTB32 ENSG00000267626 ENSG00000270544
GH19J035710 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 28.7 +67.0 66970 10 ZFP64 DMAP1 IRF4 YY1 ZNF213 ZNF143 ZNF548 ZNF263 SP3 ZFP41 KMT2B ZBTB32 PIR52641 ZNF567 TMEM147-AS1 ZNF529 ZNF599 ZNF461 U2AF1L4 RBM42
GH19J035753 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 27.2 +108.0 108035 6.4 HDGF PKNOX1 SMAD1 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 SLC30A9 PROSER3 HSPB6 GC19M039114 ENSG00000267328 U2AF1L4 COX6B1 ZBTB32 LINC01766 ENSG00000267049 ENSG00000267626
GH19J035739 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 25.5 +93.2 93206 3.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 IGFLR1 U2AF1L4 ZNF567 COX6B1 ENSG00000267049 TMEM147-AS1 ZNF599 LINC01766 LINC01534 HAUS5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX6B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COX6B1 gene promoter:
  • HTF
  • c-Ets-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • RelA
  • GATA-2

Genomic Locations for COX6B1 Gene

Genomic Locations for COX6B1 Gene
chr19:35,648,223-35,658,861
(GRCh38/hg38)
Size:
10,639 bases
Orientation:
Plus strand
chr19:36,139,125-36,149,763
(GRCh37/hg19)
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 posLast=4747
  • 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

Gene Families for COX6B1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX6B1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)

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 HEP 22926577
GO:1902600 proton 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

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(551) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COX6B1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX6B1

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, 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(3.2)
  • 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
Regions:
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

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 33
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC612644 33
  • 89.53 (n)
-- 34
  • 85 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
cow
(Bos Taurus)
Mammalia COX6B1 34 33
  • 89.15 (n)
OneToMany
-- 34
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cox6b1 16 34 33
  • 85.66 (n)
rat
(Rattus norvegicus)
Mammalia LOC688869 33
  • 85.66 (n)
oppossum
(Monodelphis domestica)
Mammalia COX6B1 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COX6B1 34
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COX6B1 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cox6b1 33
  • 66.28 (n)
Str.6264 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.34724 33
zebrafish
(Danio rerio)
Actinopterygii cox6b1 34 33
  • 69.38 (n)
OneToOne
wufa92g05 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013092 33
  • 67.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CoVIb 34 33
  • 64.79 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.5 34
  • 26 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F17281g 33
  • 57.5 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR240C 33
  • 57.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX12 36 34 33
  • 53.81 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons COX6B 33
  • 53.25 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU11339 33
  • 62.63 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cox12 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for COX6B1: view image

Paralogs for COX6B1 Gene

Paralogs for COX6B1 Gene

(1) SIMAP similar genes for COX6B1 Gene using alignment to 2 proteins:

  • CX6B1_HUMAN
  • K7EQD3_HUMAN
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 Variation AA Info Type
rs10420252 likely-benign, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 35,648,270(+) G/A 5_prime_UTR_variant
rs111638609 uncertain-significance, not specified, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 35,658,633(+) C/T coding_sequence_variant, missense_variant
rs121909602 pathogenic, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] 35,651,302(+) G/A coding_sequence_variant, missense_variant
rs577036606 uncertain-significance, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 35,648,282(+) A/G 5_prime_UTR_variant
rs778740017 pathogenic, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 35,651,301(+) C/T coding_sequence_variant, missense_variant

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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
encephalomyopathy
  • mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive
leigh syndrome
  • ls
- 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.

Additional Disease Information for COX6B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COX6B1: view

No data available for Genatlas for COX6B1 Gene

Publications for COX6B1 Gene

  1. Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family. (PMID: 1651883) Carrero-Valenzuela RD … Forte M (Gene 1991) 3 4 22 58
  2. Nucleotide sequence of the last exon of the gene for human cytochrome c oxidase subunit VIb and its flanking regions. (PMID: 1647217) Taanman JW … De Vries H (Biochimica et biophysica acta 1991) 3 4 22 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. (PMID: 18499082) Massa V … Zeviani M (American journal of human genetics 2008) 3 4 58
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58

Products for COX6B1 Gene

Sources for COX6B1 Gene

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