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Aliases for COX4I1 Gene

Aliases for COX4I1 Gene

  • Cytochrome C Oxidase Subunit 4I1 2 3 5
  • 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 3 4
  • Cytochrome C Oxidase Subunit 4 Isoform 1, Mitochondrial 3
  • COXIV-1 3
  • COX4-1 3
  • 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
  • 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 Calvarial Hyperostosis and Neuronal Ceroid Lipofuscinosis. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX4I2.

UniProtKB/Swiss-Prot for COX4I1 Gene

  • This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.

Gene Wiki entry for COX4I1 Gene

Additional gene information for COX4I1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX4I1 Gene

Genomics for COX4I1 Gene

Regulatory Elements for COX4I1 Gene

Enhancers for COX4I1 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
GH16H085898 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +109.2 109222 19.1 HDGF PKNOX1 ATF1 ZNF133 SIN3A ARID4B YY1 TCF12 GLIS2 ELK1 IRF8 COX4I1 EMC8 KIAA0513 MIR6774
GH16H085934 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.2 +137.6 137591 2.9 PKNOX1 TBL1XR1 RB1 SIN3A BATF ZNF143 ZNF207 ATF7 ETV6 RUNX3 IRF8 COX4I1 EMC8 ENSG00000270124 LOC105371388 PIR52537
GH16H085729 1.4 FANTOM5 Ensembl ENCODE 11.1 -65.8 -65782 6.5 ELF3 PKNOX1 ARID4B RARA SLC30A9 ZNF766 RUNX3 CREM SMARCA5 SMARCC1 GINS2 EMC8 COX4I1 IRF8 MIR1910 PIR51444
GH16H085844 1.4 FANTOM5 Ensembl ENCODE 10.7 +46.4 46359 0.4 ELF3 SOX13 TFAP4 FOXA2 SAP130 MLX ARID4B MAX ZSCAN9 RARA IRF8 EMC8 COX4I1 ENSG00000279907 RPL10AP12
GH16H085994 1.4 FANTOM5 Ensembl ENCODE 10.7 +197.1 197080 2.1 PKNOX1 TBL1XR1 MAX EBF1 BATF E2F1 ZFHX2 POLR2A ZNF366 FOXK2 IRF8 COX4I1 EMC8 ENSG00000269667 GC16M086019
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COX4I1 on UCSC Golden Path with GeneCards custom track

Promoters for COX4I1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000089067 767 2401 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 ZNF143 SP5

Genomic Locations for COX4I1 Gene

Genomic Locations for COX4I1 Gene
chr16:85,798,633-85,807,044
(GRCh38/hg38)
Size:
8,412 bases
Orientation:
Plus strand
chr16:85,832,239-85,840,650
(GRCh37/hg19)

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:
    • Interacts with AFG1L (PubMed:26759378).

neXtProt entry for COX4I1 Gene

Post-translational modifications for COX4I1 Gene

  • Ubiquitination at posLast=2929, isoforms=135, posLast=149149, isoforms=159, and posLast=164164
  • Modification sites at PhosphoSitePlus

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

Suggested Antigen Peptide Sequences for COX4I1 Gene

GenScript: Design optimal peptide antigens:

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:
This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.

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 contributes_to cytochrome-c oxidase activity IBA --
GO:0005515 protein binding IPI 23260140
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:

Animal Model Products

miRNA for COX4I1 Gene

miRTarBase miRNAs that target COX4I1

Clone Products

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.

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
extracellular 5
mitochondrion 5
nucleus 5
peroxisome 2
plasma membrane 1
cytosol 1
lysosome 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:0005634 nucleus IDA --
GO:0005739 mitochondrion IDA 15565177
GO:0005743 mitochondrial inner membrane TAS --
GO:0005751 mitochondrial respiratory chain complex IV IMP 19393246
GO:0016020 membrane IEA,IDA 19946888
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

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:0006123 mitochondrial electron transport, cytochrome c to oxygen IBA,TAS --
GO:0007584 response to nutrient IEA --
GO:1902600 hydrogen ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with COX4I1: view

No data available for SIGNOR curated interactions for COX4I1 Gene

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 Full agonist, 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

Unigene Clusters for COX4I1 Gene

Cytochrome c oxidase subunit IV isoform 1:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
COX4I1

Expression for COX4I1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for COX4I1 Gene



Protein tissue co-expression partners for COX4I1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COX4I1 Gene:

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)
  • Muscle(4.8)
  • Heart(4.7)
  • Liver(4.7)
  • Pancreas(4.1)
  • Lung(3.8)
  • Intestine(3.6)
  • Eye(3.5)
  • Skin(3.1)
  • Kidney(2.9)
  • Bone marrow(2.4)
  • Lymph node(2.4)
  • Thyroid gland(2.4)
  • Stomach(2.3)
  • Adrenal gland(2.2)
  • Blood(2.2)
  • Gall bladder(2.2)
  • Spleen(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 33 34
  • 99.8 (n)
cow
(Bos Taurus)
Mammalia COX4I1 33 34
  • 87.38 (n)
dog
(Canis familiaris)
Mammalia COX4I1 33 34
  • 84.81 (n)
rat
(Rattus norvegicus)
Mammalia Cox4i1 33
  • 83.63 (n)
mouse
(Mus musculus)
Mammalia Cox4i1 33 16 34
  • 81.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COX4I1 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COX4I1 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX4I1 33 34
  • 69.23 (n)
lizard
(Anolis carolinensis)
Reptilia COX4I1 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cox4i1 33
  • 63.91 (n)
Str.6121 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24762 33
zebrafish
(Danio rerio)
Actinopterygii cox4i1 33 34
  • 64.3 (n)
Dr.28165 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4266 33
fruit fly
(Drosophila melanogaster)
Insecta CG10396 33 34
  • 46.42 (n)
CoIV 34
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea W09C5.8 34
  • 23 (a)
OneToMany
Species where no ortholog for COX4I1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • 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)

Paralogs for COX4I1 Gene

Paralogs for COX4I1 Gene

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

Pseudogenes.org Pseudogenes for COX4I1 Gene

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

Variants for COX4I1 Gene

Sequence variations from dbSNP and Humsavar for COX4I1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000212372 -- 85,806,770(+) ACAAA(C/G)AGTGG intron-variant, reference, missense, utr-variant-3-prime
rs1000462389 -- 85,799,606(+) GCGCT(A/C)CCCTT nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000528952 -- 85,806,654(+) TGTGT(C/T)GGGAG intron-variant, utr-variant-3-prime
rs1000767125 -- 85,800,282(+) CATCA(C/T)TCTCA intron-variant, upstream-variant-2KB
rs1000834522 -- 85,799,441(+) TCAGG(C/T)CCGGC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

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

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

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)

Relevant External Links 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

(2) MalaCards diseases for COX4I1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
calvarial hyperostosis
  • isolated hyperostosis of the calvarium
neuronal ceroid lipofuscinosis
  • neuronal ceroid-lipofuscinoses
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for COX4I1

Genetic Association Database (GAD)
COX4I1
Human Genome Epidemiology (HuGE) Navigator
COX4I1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COX4I1
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 22 60
  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 22 60
  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 60
  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 60
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60

Products for COX4I1 Gene

Sources for COX4I1 Gene

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