Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 electr... See more...

Aliases for COX7A1 Gene

Aliases for COX7A1 Gene

  • Cytochrome C Oxidase Subunit 7A1 2 3 5
  • COX7AH 2 3 4
  • Cytochrome C Oxidase Subunit VIIa Polypeptide 1 (Muscle) 2 3
  • Cytochrome C Oxidase Subunit 7A1, Mitochondrial 3 4
  • Cytochrome C Oxidase Subunit VIIa-Muscle 3 4
  • Cytochrome C Oxidase Subunit VIIa-Heart 3 4
  • Cytochrome C Oxidase Subunit VIIa-H 3 4
  • Cytochrome C Oxidase Subunit VIIa-M 3 4
  • Cytochrome C Oxidase Subunit VIIa Heart/Muscle Isoform 3
  • COX7AM 3
  • COX7A1 5
  • COX7A 3

External Ids for COX7A1 Gene

Previous HGNC Symbols for COX7A1 Gene

  • COX7A

Previous GeneCards Identifiers for COX7A1 Gene

  • GC19M037280
  • GC19M037090
  • GC19M041317
  • GC19M041333
  • GC19M036641
  • GC19M033149
  • GC19M036327
  • GC19M036702
  • GC19M039024
  • GC19M039166
  • GC19M039736
  • GC19M041507
  • GC19M036887
  • GC19M036905
  • GC19M037443
  • GC19M037783
  • GC19M038081
  • GC19M038369
  • GC19M038662
  • GC19M038890

Summaries for COX7A1 Gene

Entrez Gene Summary for COX7A1 Gene

  • Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008]

GeneCards Summary for COX7A1 Gene

COX7A1 (Cytochrome C Oxidase Subunit 7A1) is a Protein Coding gene. 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 electron transfer activity and cytochrome-c oxidase activity. An important paralog of this gene is COX7A2.

UniProtKB/Swiss-Prot Summary for COX7A1 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 using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.

Gene Wiki entry for COX7A1 Gene

Additional gene information for COX7A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COX7A1 Gene

Genomics for COX7A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COX7A1 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 COX7A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COX7A1

Top Transcription factor binding sites by QIAGEN in the COX7A1 gene promoter:
  • AML1a
  • AP-1
  • CUTL1
  • MZF-1
  • NF-1
  • Pax-4a
  • POU2F1
  • POU2F1a
  • RORalpha1
  • YY1

Genomic Locations for COX7A1 Gene

Genomic Locations for COX7A1 Gene
chr19:36,150,922-36,152,449
(GRCh38/hg38)
Size:
1,528 bases
Orientation:
Minus strand
chr19:36,641,824-36,643,771
(GRCh37/hg19)
Size:
1,948 bases
Orientation:
Minus strand

Genomic View for COX7A1 Gene

Genes around COX7A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX7A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX7A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX7A1 Gene

Proteins for COX7A1 Gene

  • Protein details for COX7A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24310-CX7A1_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 7A1, mitochondrial
    Protein Accession:
    P24310

    Protein attributes for COX7A1 Gene

    Size:
    79 amino acids
    Molecular mass:
    9118 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 (By similarity). 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)) (By similarity).

neXtProt entry for COX7A1 Gene

Post-translational modifications for COX7A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COX7A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COX7A1 Gene

Domains & Families for COX7A1 Gene

Gene Families for COX7A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for COX7A1 Gene

InterPro:
Blocks:
  • Cytochrome c oxidase, subunit VIIa
ProtoNet:

Suggested Antigen Peptide Sequences for COX7A1 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome c oxidase subunit VIIa-muscle (CX7A1_HUMAN)
  • cDNA, FLJ92372, Homo sapiens cytochrome c oxidase subunit VIIa polypeptide 1(muscle) (COX7A1), mRNA (Q6FGI7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P24310

UniProtKB/Swiss-Prot:

CX7A1_HUMAN :
  • Belongs to the cytochrome c oxidase VIIa family.
Family:
  • Belongs to the cytochrome c oxidase VIIa family.
genes like me logo Genes that share domains with COX7A1: view

Function for COX7A1 Gene

Molecular function for COX7A1 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 using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
GENATLAS Biochemistry:
cytochrome c oxidase,subunit VIIa,polypeptide 1,heart muscle,with a nuclear respiratory factor 2 (NRF-2) binding site,component of the complex IV,terminal enzyme complex for electron transfert,oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

Phenotypes From GWAS Catalog for COX7A1 Gene

Gene Ontology (GO) - Molecular Function for COX7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity IEA --
GO:0009055 electron transfer activity IEA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with COX7A1: view
genes like me logo Genes that share phenotypes with COX7A1: view

Animal Models for COX7A1 Gene

MGI Knock Outs for COX7A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX7A1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for COX7A1 Gene

Localization for COX7A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX7A1 Gene

Mitochondrion inner membrane. Single-pass membrane protein.

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 COX7A1 gene
Compartment Confidence
mitochondrion 5
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for COX7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 9344674
GO:0005743 mitochondrial inner membrane IEA --
GO:0005746 mitochondrial respiratory chain IEA,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with COX7A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COX7A1 Gene

Pathways & Interactions for COX7A1 Gene

genes like me logo Genes that share pathways with COX7A1: view

Pathways by source for COX7A1 Gene

1 Qiagen pathway for COX7A1 Gene
  • AMPK Enzyme Complex Pathway

UniProtKB/Swiss-Prot P24310-CX7A1_HUMAN

  • Pathway: Energy metabolism; oxidative phosphorylation.

Gene Ontology (GO) - Biological Process for COX7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002082 regulation of oxidative phosphorylation IBA 21873635
GO:0006091 generation of precursor metabolites and energy TAS 9344674
GO:0006119 oxidative phosphorylation IEA --
GO:0022900 electron transport chain IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with COX7A1: view

No data available for SIGNOR curated interactions for COX7A1 Gene

Drugs & Compounds for COX7A1 Gene

(4) Drugs for COX7A1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Agonist, Full 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 COX7A1: view

Transcripts for COX7A1 Gene

mRNA/cDNA for COX7A1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX7A1

Alternative Splicing Database (ASD) splice patterns (SP) for COX7A1 Gene

No ASD Table

Relevant External Links for COX7A1 Gene

GeneLoc Exon Structure for
COX7A1

Expression for COX7A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COX7A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COX7A1 Gene

This gene is overexpressed in Heart - Left Ventricle (x12.1), Muscle - Skeletal (x10.8), and Heart - Atrial Appendage (x7.8).

Protein differential expression in normal tissues from HIPED for COX7A1 Gene

This gene is overexpressed in Heart (37.0), Esophagus (7.6), and Fetal heart (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COX7A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COX7A1

SOURCE GeneReport for Unigene cluster for COX7A1 Gene:

Hs.421621

Evidence on tissue expression from TISSUES for COX7A1 Gene

  • Muscle(4.9)
  • Heart(4.8)
  • Nervous system(2.9)
  • Kidney(2.7)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with COX7A1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX7A1 Gene

Orthologs for COX7A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COX7A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COX7A1 30 31
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COX7A1 30 31
  • 83.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia COX7A1 30 31
  • 83.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cox7a1 30 17 31
  • 76.07 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia COX7A1 31
  • 63 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii cox7a1 31
  • 45 (a)
ManyToMany
Species where no ortholog for COX7A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • 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)
  • Rat (Rattus norvegicus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for COX7A1 Gene

ENSEMBL:
Gene Tree for COX7A1 (if available)
TreeFam:
Gene Tree for COX7A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX7A1: view image

Paralogs for COX7A1 Gene

Paralogs for COX7A1 Gene

(3) SIMAP similar genes for COX7A1 Gene using alignment to 5 proteins:

  • CX7A1_HUMAN
  • H6SG12_HUMAN
  • K7ER11_HUMAN
  • Q6FGI7_HUMAN
  • U3KQH8_HUMAN
genes like me logo Genes that share paralogs with COX7A1: view

Variants for COX7A1 Gene

Additional dbSNP identifiers (rs#s) for COX7A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for COX7A1 Gene

Variant ID Type Subtype PubMed ID
nsv579425 CNV loss 21841781

Variation tolerance for COX7A1 Gene

Residual Variation Intolerance Score: 55.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX7A1 Gene

Human Gene Mutation Database (HGMD)
COX7A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX7A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COX7A1 Gene

Disorders for COX7A1 Gene

Additional Disease Information for COX7A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for COX7A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COX7A1 Gene

Publications for COX7A1 Gene

  1. Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase. (PMID: 1327965) Arnaudo E … Schon EA (Gene 1992) 2 3 4 23
  2. Genomic organization and promoter regulation of human cytochrome c oxidase subunit VII heart/muscle isoform (COX7AH). (PMID: 11997101) Yu M … Grossman LI (Biochimica et biophysica acta 2002) 3 4 23
  3. Molecular evolution of the COX7A gene family in primates. (PMID: 10335655) Schmidt TR … Grossman LI (Molecular biology and evolution 1999) 3 4 23
  4. Genomic sequence and organization of the human gene for cytochrome c oxidase subunit (COX7A1) VIIa-M. (PMID: 9344674) Wolz W … Mueller CR (Genomics 1997) 3 4 23
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41

Products for COX7A1 Gene

Sources for COX7A1 Gene