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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 the electron transfer... See more...
Aliases for COX6A1 Gene
Aliases for COX6A1 Gene
External Ids for COX6A1 Gene
- HGNC: 2277
- Entrez Gene: 1337
- Ensembl: ENSG00000111775
- OMIM: 602072
- UniProtKB: P12074
Previous HGNC Symbols for COX6A1 Gene
- COX6A
Previous GeneCards Identifiers for COX6A1 Gene
- GC12P119748
- GC12P120402
- GC12P120658
- GC12P119287
- GC12P119338
- GC12P120875
- GC12P117884
Summaries for COX6A1 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 the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]
GeneCards Summary for COX6A1 Gene
COX6A1 (Cytochrome C Oxidase Subunit 6A1) is a Protein Coding gene. Diseases associated with COX6A1 include Charcot-Marie-Tooth Disease, Recessive Intermediate D and Charcot-Marie-Tooth Disease. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Cardiac muscle contraction. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX6A2.
UniProtKB/Swiss-Prot Summary for COX6A1 Gene
-
Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules unsing 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
Additional gene information for COX6A1 Gene
- HGNC(2277)
- Entrez Gene(1337)
- Ensembl(ENSG00000111775)
- OMIM(602072)
- UniProtKB(P12074)
- Open Targets Platform(ENSG00000111775)
- Monarch Initiative
- Search for COX6A1 at DataMed
- Search for COX6A1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COX6A1 Gene
Genomics for COX6A1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for COX6A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around COX6A1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COX6A1
- Top Transcription factor binding sites by QIAGEN in the COX6A1 gene promoter:
-
- AML1a
- c-Myc
- E47
- Max
- MIF-1
- Olf-1
- p53
- Pbx1a
- RFX1
- Tal-1beta
Genomic Locations for COX6A1 Gene
Genomic Locations for COX6A1 Gene
- chr12:120,438,090-120,440,737
- (GRCh38/hg38)
- Size:
- 2,648 bases
- Orientation:
- Plus strand
- chr12:120,875,893-120,878,545
- (GRCh37/hg19)
- Size:
- 2,653 bases
- Orientation:
- Plus strand
Genomic View for COX6A1 Gene
Genes around COX6A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.31 by HGNC
- 12q24.31|12q24.2 by Entrez Gene
- 12q24.31 by Ensembl
COX6A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for COX6A1 Gene
Proteins for COX6A1 Gene
-
Protein details for COX6A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P12074-CX6A1_HUMAN
- Recommended name:
- Cytochrome c oxidase subunit 6A1, mitochondrial
- Protein Accession:
- P12074
- B2R500
- O43714
- Q32Q37
Protein attributes for COX6A1 Gene
- Size:
- 109 amino acids
- Molecular mass:
- 12155 Da
- Quaternary structure:
-
- Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C, COX7A2 (or COX7A1), COX7B, COX7C, COX8A and NDUFA4, which are encoded in the nuclear genome (PubMed:30030519). The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695).
- SequenceCaution:
-
- Sequence=CAA33392.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for COX6A1 Gene
Post-translational modifications for COX6A1 Gene
Other Protein References for COX6A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences COX6A1 Antibody
- G Biosciences Immunotag™ Cytochrome c Oxidase 6A1 Antibody
- Novus Biologicals Antibodies for COX6A1
-
Abcam antibodies for COX6A1
- Invitrogen Antibodies for COX6A1 (AFLGC-Cox6a1)
- antibodies-online: Show 33 available COX6A1 Antibodies ranked by validation data
-
Boster Bio Antibodies for COX6A1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for COX6A1
- Origene Custom Protein Services for COX6A1
- antibodies-online: Show 6 available COX6A1 Proteins ranked by validation data
- Compare Top COX6A1 Proteins
-
Quality Products:
-
Abcam proteins for COX6A1
No data available for DME Specific Peptides for COX6A1 Gene
Domains & Families for COX6A1 Gene
Gene Families for COX6A1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Protein Domains for COX6A1 Gene
- InterPro:
- Blocks:
-
- Cytochrome c oxidase, subunit VIa
- ProtoNet:
Suggested Antigen Peptide Sequences for COX6A1 Gene
- GenScript: Design optimal peptide antigens:
-
- Cytochrome c oxidase subunit VIA-liver (CX6A1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P12074- Family:
-
- Belongs to the cytochrome c oxidase subunit 6A family.
Function for COX6A1 Gene
Molecular function for COX6A1 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules unsing 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
- GENATLAS Biochemistry:
- cytochrome c oxidase,subunit VIa,polypeptide 1,liver specific,97.5kDa,component of the complex IV,terminal enzyme complex for electron transfert,oxidative phosphorylation (OXPHOS),inner mitochondrial membrane
Phenotypes From GWAS Catalog for COX6A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004129 | contributes_to cytochrome-c oxidase activity | IBA | 21873635 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0030234 | enzyme regulator activity | IBA | 21873635 |
Phenotypes for COX6A1 Gene
- MGI mutant phenotypes for COX6A1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for COX6A1:
Animal Models for COX6A1 Gene
- MGI Knock Outs for COX6A1:
-
- Cox6a1 Cox6a1<tm1(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for COX6A1 - Select products 50% OFF >
- * COX6A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for COX6A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COX6A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for COX6A1
miRNA for COX6A1 Gene
- miRTarBase miRNAs that target COX6A1
-
- mmu-miR-541-5p (MIRT008258)
- mmu-miR-7b-5p (MIRT009266)
- hsa-miR-381-3p (MIRT270467)
- hsa-miR-300 (MIRT270468)
- hsa-miR-27b-5p (MIRT335417)
- hsa-miR-4720-3p (MIRT335429)
- hsa-miR-5003-3p (MIRT335431)
- hsa-miR-30c-2-3p (MIRT335436)
- hsa-miR-30c-1-3p (MIRT335437)
- hsa-miR-3064-3p (MIRT335439)
- hsa-miR-4786-5p (MIRT335440)
- hsa-miR-6757-5p (MIRT335441)
- hsa-miR-6788-5p (MIRT335442)
- hsa-miR-6871-5p (MIRT335443)
- hsa-miR-4792 (MIRT405146)
- hsa-miR-6882-5p (MIRT574286)
- hsa-miR-3974 (MIRT574287)
- hsa-miR-186-5p (MIRT574288)
- hsa-miR-3133 (MIRT574289)
- hsa-miR-664b-3p (MIRT696669)
- hsa-miR-579-3p (MIRT696670)
- hsa-miR-8085 (MIRT696671)
- hsa-miR-6731-5p (MIRT696672)
- hsa-miR-6878-5p (MIRT696673)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COX6A1
- Browse OriGene Inhibitory RNA Products For COX6A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX6A1
Clone Products
- Applied Biological Materials (abm): Clones for COX6A1 - Select products 50% OFF >
- * COX6A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for COX6A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COX6A1
Cell Line Products
-
Horizon Cell Lines for COX6A1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COX6A1 Gene
Localization for COX6A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COX6A1 Gene
- Mitochondrion inner membrane. Single-pass membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA,IDA | -- |
| GO:0005743 | mitochondrial inner membrane | TAS | -- |
| GO:0005751 | mitochondrial respiratory chain complex IV | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for COX6A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
|
|
| 2 | Parkinson disease | ||
| 3 | Metabolism |
.40
|
|
| 4 | Gene Expression |
.48
|
|
| 5 | Cardiac muscle contraction | ||
Pathways by source for COX6A1 Gene
1 BioSystems pathway for COX6A1 Gene
8 KEGG pathways for COX6A1 Gene
1 Qiagen pathway for COX6A1 Gene
- AMPK Enzyme Complex Pathway
UniProtKB/Swiss-Prot P12074-CX6A1_HUMAN
- Pathway: Energy metabolism; oxidative phosphorylation.
Interacting Proteins for COX6A1 Gene
Selected Interacting proteins:
P12074-CX6A1_HUMAN
ENSP00000229379
for COX6A1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for COX6A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006091 | generation of precursor metabolites and energy | TAS | 2549515 |
| GO:0006119 | oxidative phosphorylation | IEA | -- |
| GO:0006123 | mitochondrial electron transport, cytochrome c to oxygen | IBA,TAS | -- |
| GO:0009060 | aerobic respiration | IBA | 21873635 |
| GO:0022900 | electron transport chain | IEA | -- |
No data available for SIGNOR curated interactions for COX6A1 Gene
Transcripts for COX6A1 Gene
mRNA/cDNA for COX6A1 Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000550009 572 nts (view in UCSC)
- ENST00000229379 537 nts (view in UCSC)
- ENST00000549525 767 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for COX6A1 - Select products 50% OFF >
- * COX6A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for COX6A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COX6A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for COX6A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COX6A1
- Browse OriGene Inhibitory RNA Products For COX6A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX6A1
Clone Products
- Applied Biological Materials (abm): Clones for COX6A1 - Select products 50% OFF >
- * COX6A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for COX6A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COX6A1
Relevant External Links for COX6A1 Gene
- GeneLoc Exon Structure for
- COX6A1
Expression for COX6A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Kidney (Urinary System)
- Bone (Muscoskeletal System)
This gene is overexpressed in CD8 Tcells (9.8) and Fetal Liver (9.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COX6A1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COX6A1
SOURCE GeneReport for Unigene cluster for COX6A1 Gene:
Hs.369624Evidence on tissue expression from TISSUES for COX6A1 Gene
- Nervous system(4.8)
- Liver(4.7)
- Kidney(3.3)
- Heart(3.2)
- Eye(3.1)
- Stomach(3)
- Intestine(2.9)
- Muscle(2.8)
- Blood(2.7)
- Skin(2.7)
- Thyroid gland(2.6)
- Lung(2.6)
- Spleen(2.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for COX6A1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- head
Limb:
- foot
- lower limb
- shin
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for COX6A1
-
OriGene qPCR primer pairs and template standards for COX6A1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COX6A1 Gene
Orthologs for COX6A1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | COX6A1 31 |
|
OneToOne | |
| LOC100616508 30 |
|
||||
| Dog (Canis familiaris) |
Mammalia | LOC477508 30 |
|
||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Cox6a1 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | COX6A1 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Mouse (Mus musculus) |
Mammalia | Cox6a1 30 17 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | COX6A1 30 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cox6a1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cox6a1 30 31 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000851 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | levy 30 31 |
|
ManyToMany | |
| CG30093 31 |
|
ManyToMany | |||
| CG14077 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | tag-174 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | COX13 33 |
|
|
- Species where no ortholog for COX6A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for COX6A1 Gene
- ENSEMBL:
- Gene Tree for COX6A1 (if available)
- TreeFam:
- Gene Tree for COX6A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for COX6A1: view image
Paralogs for COX6A1 Gene
(2) SIMAP similar genes for COX6A1 Gene using alignment to 2 proteins:
- CX6A1_HUMAN
- H6SG15_HUMAN
Pseudogenes.org Pseudogenes for COX6A1 Gene
Variants for COX6A1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COX6A1 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 669703 | Benign: not provided | 120,438,673(+) | T/A | INTRON_VARIANT | |
| 676114 | Benign: not provided | 120,438,262(+) | A/C | INTRON_VARIANT | |
| 676664 | Likely Benign: not provided | 120,437,972(+) | T/C | ||
| 676665 | Likely Benign: not provided | 120,438,079(+) | G/A | ||
| 682112 | Likely Benign: not provided | 120,438,241(+) | G/A | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3630923 | CNV | gain | 21293372 |
| nsv509482 | CNV | insertion | 20534489 |
Residual Variation Intolerance Score:
51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.36;
7.87% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for COX6A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX6A1 Gene
Disorders for COX6A1 Gene
(13) MalaCards diseases for COX6A1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, recessive intermediate d |
|
|
| charcot-marie-tooth disease |
|
|
| tooth disease |
|
|
| charcot-marie-tooth disease, axonal, type 2t |
|
|
| charcot-marie-tooth disease, axonal, type 2e |
|
|
Search COX6A1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CX6A1_HUMAN- Charcot-Marie-Tooth disease, recessive, intermediate type, D (CMTRID) [MIM:616039]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269 PubMed:25152455}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for COX6A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for COX6A1 Gene
Publications for COX6A1 Gene
- A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. (PMID: 25152455) Tamiya G … Hayasaka K (American journal of human genetics 2014) 3 4
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
- Identification of cytochrome c oxidase subunit 6A1 as a suppressor of Bax-induced cell death by yeast-based functional screening. (PMID: 18549809) Eun SY … Seo HG (Biochemical and biophysical research communications 2008) 3 23
- The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
ExternalLinks
Products for COX6A1 Gene
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- antibodies-online: Show 33 available COX6A1 Antibodies ranked by validation data
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Sources for COX6A1 Gene
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