Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitoch... See more...

Aliases for COX4I1 Gene

Aliases for COX4I1 Gene

  • Cytochrome C Oxidase Subunit 4I1 2 3 5
  • Cytochrome C Oxidase Subunit 4 Isoform 1, Mitochondrial 3 4
  • Cytochrome C Oxidase Subunit IV Isoform 1 2 4
  • Cytochrome C Oxidase Polypeptide IV 3 4
  • Cytochrome C Oxidase Subunit IV 2 3
  • COX IV-1 3 4
  • COX4-1 2 3
  • COX4 3 4
  • COXIV-1 3
  • COX4I1 5
  • COXIV 3

External Ids for COX4I1 Gene

Previous HGNC Symbols for COX4I1 Gene

  • COX4

Previous GeneCards Identifiers for COX4I1 Gene

  • GC16P077058
  • GC16P086866
  • GC16P085573
  • GC16P085614
  • GC16P084390
  • GC16P085833
  • GC16P071574

Summaries for COX4I1 Gene

Entrez Gene Summary for COX4I1 Gene

  • Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

GeneCards Summary for COX4I1 Gene

COX4I1 (Cytochrome C Oxidase Subunit 4I1) is a Protein Coding gene. Diseases associated with COX4I1 include Mitochondrial Complex Iv Deficiency and Calvarial Hyperostosis. 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 COX4I2.

UniProtKB/Swiss-Prot Summary for COX4I1 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 subunbit 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 COX4I1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COX4I1 Gene

Genomics for COX4I1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COX4I1 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
GH16J085798 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 611.1 +0.9 906 3.9 CREB1 GATAD2A HNRNPL ATF7 PRDM10 ZNF629 TFE3 NFKBIZ POLR2A ZNF7 COX4I1 EMC8 piR-59610 GSE1 C16orf74 ENSG00000275393
GH16J085898 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.3 +108.9 108857 19.8 RNF2 SP1 GATAD2A CTCF ZBTB33 ATF7 TFE3 ZNF692 POLR2A ZNF174 IRF8 COX4I1 EMC8 KIAA0513 MIR6774 FOXF1
GH16J085934 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 +137.6 137590 2.9 SP1 POLR2A BACH1 LARP7 RELA REST TCF12 IKZF2 RCOR1 TRIM22 LINC02132 IRF8 COX4I1 EMC8 ENSG00000270124 ENSG00000285163 FOXF1
GH16J085994 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.7 +197.1 197080 2.1 PRDM1 ZNF143 TCF12 IKZF2 RCOR1 YY1 POLR2A PKNOX1 MNT EED ENSG00000285012 IRF8 COX4I1 EMC8 ENSG00000285040 FOXF1
GH16J085755 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE 11.4 -41.7 -41745 2.2 PRDM10 ZIC2 POLR2A TRIM22 EED ARID3A DPF2 RUNX3 ASH2L BCLAF1 RNU1-103P COX4I1 EMC8 ZDHHC7 IRF8 C16orf74 lnc-C16orf74-2 ENSG00000275393
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX4I1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COX4I1

Top Transcription factor binding sites by QIAGEN in the COX4I1 gene promoter:
  • AML1a
  • ATF6
  • c-Myc
  • HTF
  • Max
  • MAZR
  • NCX
  • PPAR-gamma1
  • PPAR-gamma2
  • YY1

Genomic Locations for COX4I1 Gene

Genomic Locations for COX4I1 Gene
chr16:85,798,633-85,807,068
(GRCh38/hg38)
Size:
8,436 bases
Orientation:
Plus strand
chr16:85,832,239-85,840,650
(GRCh37/hg19)
Size:
8,412 bases
Orientation:
Plus strand

Genomic View for COX4I1 Gene

Genes around COX4I1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX4I1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX4I1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX4I1 Gene

Proteins for COX4I1 Gene

  • Protein details for COX4I1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13073-COX41_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 4 isoform 1, mitochondrial
    Protein Accession:
    P13073
    Secondary Accessions:
    • B2R4J2
    • D3DUM7
    • Q6P666

    Protein attributes for COX4I1 Gene

    Size:
    169 amino acids
    Molecular mass:
    19577 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). Interacts with AFG1L (PubMed:26759378). Interacts with PHB2; the interaction decreases in absence of SPHK2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for COX4I1 Gene

neXtProt entry for COX4I1 Gene

Post-translational modifications for COX4I1 Gene

  • Ubiquitination at Lys29, Lys135, Lys149, Lys159, and Lys164
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for COX4I1

No data available for DME Specific Peptides for COX4I1 Gene

Domains & Families for COX4I1 Gene

Gene Families for COX4I1 Gene

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

Protein Domains for COX4I1 Gene

InterPro:
Blocks:
  • Cytochrome c oxidase subunit IV
ProtoNet:

Suggested Antigen Peptide Sequences for COX4I1 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome c oxidase subunit IV isoform 1 (COX41_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P13073

UniProtKB/Swiss-Prot:

COX41_HUMAN :
  • Belongs to the cytochrome c oxidase IV family.
Family:
  • Belongs to the cytochrome c oxidase IV family.
genes like me logo Genes that share domains with COX4I1: view

Function for COX4I1 Gene

Molecular function for COX4I1 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 subunbit 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.

Phenotypes From GWAS Catalog for COX4I1 Gene

Gene Ontology (GO) - Molecular Function for COX4I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity IEA --
GO:0005515 protein binding IPI 23260140
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with COX4I1: view
genes like me logo Genes that share phenotypes with COX4I1: view

Animal Models for COX4I1 Gene

MGI Knock Outs for COX4I1:
  • Cox4i1 Cox4i1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for COX4I1 Gene

miRTarBase miRNAs that target COX4I1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX4I1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COX4I1 Gene

Localization for COX4I1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX4I1 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 COX4I1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COX4I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA 15565177
GO:0005743 mitochondrial inner membrane TAS --
GO:0005751 mitochondrial respiratory chain complex IV IMP 19393246
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with COX4I1: view

Pathways & Interactions for COX4I1 Gene

genes like me logo Genes that share pathways with COX4I1: view

UniProtKB/Swiss-Prot P13073-COX41_HUMAN

  • Pathway: Energy metabolism; oxidative phosphorylation.

SIGNOR curated interactions for COX4I1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for COX4I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 2157630
GO:0006119 oxidative phosphorylation IEA --
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen IBA,TAS --
GO:0007584 response to nutrient IEA --
GO:0022900 electron transport chain IEA --
genes like me logo Genes that share ontologies with COX4I1: view

Drugs & Compounds for COX4I1 Gene

(5) Drugs for COX4I1 Gene - From: DrugBank, HMDB, and Novoseek

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

(2) Additional Compounds for COX4I1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COX4I1: view

Transcripts for COX4I1 Gene

mRNA/cDNA for COX4I1 Gene

6 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
18 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 COX4I1

Alternative Splicing Database (ASD) splice patterns (SP) for COX4I1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - -
SP7: -
SP8: -
SP9: - - - -
SP10: - - -

Relevant External Links for COX4I1 Gene

GeneLoc Exon Structure for
COX4I1

Expression for COX4I1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COX4I1 Gene

Protein differential expression in normal tissues from HIPED for COX4I1 Gene

This gene is overexpressed in Heart (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COX4I1 Gene



Protein tissue co-expression partners for COX4I1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COX4I1

SOURCE GeneReport for Unigene cluster for COX4I1 Gene:

Hs.433419

mRNA Expression by UniProt/SwissProt for COX4I1 Gene:

P13073-COX41_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for COX4I1 Gene

  • Nervous system(5)
  • Heart(4.8)
  • Liver(4.8)
  • Muscle(4.8)
  • Pancreas(4.4)
  • Lung(4.2)
  • Intestine(4.2)
  • Eye(4)
  • Skin(3.8)
  • Kidney(3.5)
  • Stomach(3.2)
  • Thyroid gland(3.2)
  • Blood(3.1)
  • Adrenal gland(3.1)
  • Bone marrow(3.1)
  • Spleen(3)
  • Lymph node(3)
  • Gall bladder(2.2)
genes like me logo Genes that share expression patterns with COX4I1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX4I1 Gene

Orthologs for COX4I1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COX4I1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COX4I1 30 31
  • 99.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia COX4I1 30 31
  • 87.38 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COX4I1 30 31
  • 84.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cox4i1 30
  • 83.63 (n)
Mouse
(Mus musculus)
Mammalia Cox4i1 30 17 31
  • 81.66 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia COX4I1 31
  • 74 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia COX4I1 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COX4I1 30 31
  • 69.23 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COX4I1 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cox4i1 30
  • 63.91 (n)
Str.6121 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24762 30
Zebrafish
(Danio rerio)
Actinopterygii cox4i1 30 31
  • 64.3 (n)
OneToOne
Dr.28165 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4266 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG10396 30 31
  • 46.42 (n)
ManyToMany
CoIV 31
  • 31 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea W09C5.8 31
  • 23 (a)
OneToMany
Species where no ortholog for COX4I1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 COX4I1 Gene

ENSEMBL:
Gene Tree for COX4I1 (if available)
TreeFam:
Gene Tree for COX4I1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX4I1: view image

Paralogs for COX4I1 Gene

Paralogs for COX4I1 Gene

(2) SIMAP similar genes for COX4I1 Gene using alignment to 7 proteins:

  • COX41_HUMAN
  • H3BN72_HUMAN
  • H3BNI5_HUMAN
  • H3BNV9_HUMAN
  • H3BPG0_HUMAN
  • H3BPR4_HUMAN
  • Q86WV2_HUMAN

Pseudogenes.org Pseudogenes for COX4I1 Gene

genes like me logo Genes that share paralogs with COX4I1: view

Variants for COX4I1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COX4I1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
710577 Benign: not provided 85,805,022(+) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
780190 Benign: not provided 85,805,091(+) T/C INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,SYNONYMOUS_VARIANT
834062 Pathogenic: Mitochondrial complex IV deficiency 85,805,794(+) GA/TT MISSENSE_VARIANT
834063 Pathogenic: Mitochondrial complex IV deficiency 85,806,818(+) C/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs11557187 - p.Ala3Thr

Additional dbSNP identifiers (rs#s) for COX4I1 Gene

Structural Variations from Database of Genomic Variants (DGV) for COX4I1 Gene

Variant ID Type Subtype PubMed ID
esv4262 OTHER complex 18987735
nsv483044 CNV gain 15286789
nsv833316 CNV loss 17160897

Variation tolerance for COX4I1 Gene

Residual Variation Intolerance Score: 33.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.73; 78.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX4I1 Gene

Human Gene Mutation Database (HGMD)
COX4I1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX4I1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX4I1 Gene

Disorders for COX4I1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for COX4I1 Gene - From: ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
calvarial hyperostosis
  • isolated hyperostosis of the calvarium
exocrine pancreatic insufficiency
neuronal ceroid lipofuscinosis
  • batten disease
hyperostosis
  • bone hypertrophy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for COX4I1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with COX4I1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COX4I1 Gene

Publications for COX4I1 Gene

  1. Novel use of a chimpanzee pseudogene for chromosomal mapping of human cytochrome c oxidase subunit IV. (PMID: 2157630) Lomax MI … Grossman LI (Gene 1990) 2 3 4 23
  2. The 5' region of the COX4 gene contains a novel overlapping gene, NOC4. (PMID: 10337626) Bachman NJ … Lomax MI (Mammalian genome : official journal of the International Mammalian Genome Society 1999) 3 4 23
  3. Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase. (PMID: 2444497) Zeviani M … Schon EA (Gene 1987) 2 3 4
  4. The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits. (PMID: 26759378) Cesnekova J … Stiburek L (The Biochemical journal 2016) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for COX4I1 Gene

Sources for COX4I1 Gene