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    COX4I1 cytochrome c oxidase subunit 4I1 [ Homo sapiens (human) ]

    Gene ID: 1327, updated on 8-Jun-2017
    Official Symbol
    COX4I1provided by HGNC
    Official Full Name
    cytochrome c oxidase subunit 4I1provided by HGNC
    Primary source
    HGNC:HGNC:2265
    See related
    Ensembl:ENSG00000131143 MIM:123864; Vega:OTTHUMG00000137649
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COX4; COXIV; COX4-1; COXIV-1; COX IV-1
    Summary
    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]
    Orthologs
    Location:
    16q24.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (85799567..85807003)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (85833173..85840608)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ER membrane protein complex subunit 8 Neighboring gene RNA, U1 small nuclear 103, pseudogene Neighboring gene uncharacterized LOC101928557 Neighboring gene iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene Neighboring gene ribosomal protein L10a pseudogene 12

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
    NHGRI GWA Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with cytochrome c oxidase subunit IV isoform 1 (COX4I1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with cytochrome c oxidase subunit IV isoform 1 (COX4I1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Tat tat Tat-induced mitochondrial membrane permeabilization is associated with inhibition of cytochrome c oxidase (COX) activity by Tat in disrupted mitochondria from human samples PubMed
    Vpr vpr HIV-1 Vpr and FAT10 co-localize to mitochondria with marker protein Cox4 PubMed

    Go to the HIV-1, Human Interaction Database

    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cytochrome c oxidase, organism-specific biosystem (from KEGG)
      Cytochrome c oxidase, organism-specific biosystemStructural complex; Energy metabolism; ATP synthesis
    • Cytochrome c oxidase, conserved biosystem (from KEGG)
      Cytochrome c oxidase, conserved biosystemStructural complex; Energy metabolism; ATP synthesis
    • Electron Transport Chain, organism-specific biosystem (from WikiPathways)
      Electron Transport Chain, organism-specific biosystemAn electron transport chain(ETC) couples a chemical reaction between an electron donor (such as NADH) and an electron acceptor (such as O2) to the transfer of H+ ions across a membrane, through a set...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Huntington's disease, organism-specific biosystem (from KEGG)
      Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Huntington's disease, conserved biosystem (from KEGG)
      Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystem (from KEGG)
      Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
    • Non-alcoholic fatty liver disease (NAFLD), conserved biosystem (from KEGG)
      Non-alcoholic fatty liver disease (NAFLD), conserved biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
    • Oxidative phosphorylation, organism-specific biosystem (from KEGG)
      Oxidative phosphorylation, organism-specific biosystem
      Oxidative phosphorylation
    • Oxidative phosphorylation, conserved biosystem (from KEGG)
      Oxidative phosphorylation, conserved biosystem
      Oxidative phosphorylation
    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
    • Respiratory electron transport, organism-specific biosystem (from REACTOME)
      Respiratory electron transport, organism-specific biosystemMitochondria are often described as the "powerhouse" of a cell as it is here that energy is largely released from the oxidation of food. Reducing equivalents generated from beta-oxidation of fatty ac...
    • Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystem (from REACTOME)
      Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystemOxidation of fatty acids and pyruvate in the mitochondrial matrix yield large amounts of NADH. The respiratory electron transport chain couples the re-oxidation of this NADH to NAD+ to the export of ...
    • TP53 Regulates Metabolic Genes, organism-specific biosystem (from REACTOME)
      TP53 Regulates Metabolic Genes, organism-specific biosystemWhile the p53 tumor suppressor protein (TP53) is known to inhibit cell growth by inducing apoptosis, senescence and cell cycle arrest, recent studies have found that p53 is also able to influence cel...
    • The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
      The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ23483, MGC72016

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to cytochrome-c oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    PubMed 
    hydrogen ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial electron transport, cytochrome c to oxygen IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrial electron transport, cytochrome c to oxygen TAS
    Traceable Author Statement
    more info
     
    response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrial respiratory chain complex IV IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    cytochrome c oxidase subunit 4 isoform 1, mitochondrial
    Names
    cytochrome c oxidase polypeptide IV
    cytochrome c oxidase subunit IV
    NP_001305715.1
    NP_001305717.1
    NP_001305723.1
    NP_001305726.1
    NP_001305731.1
    NP_001852.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042280.1 RefSeqGene

      Range
      5001..12437
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318786.1NP_001305715.1  cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      BC047869, BE615615, BE728651, BM835194, BU599266, DA623889, U90915
      Consensus CDS
      CCDS10955.1
      UniProtKB/Swiss-Prot
      P13073
      UniProtKB/TrEMBL
      Q86WV2
      Related
      ENSP00000457015.1, OTTHUMP00000254038, ENST00000561569.5, OTTHUMT00000430839
      Conserved Domains (1) summary
      pfam02936
      Location:36168
      COX4; Cytochrome c oxidase subunit IV
    2. NM_001318788.1NP_001305717.1  cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, resulting in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BE615615, BM835194, BP343428, BU599266, DA623889, U90915
      UniProtKB/Swiss-Prot
      P13073
      Conserved Domains (1) summary
      cd00922
      Location:26126
      Cyt_c_Oxidase_IV; Cytochrome c oxidase subunit IV. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
    3. NM_001318794.1NP_001305723.1  cytochrome c oxidase subunit 4 isoform 1, mitochondrial isofom 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, resulting in a different 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC018695, BC062437, BE615615, BG614492, BM835194, BU599266, CN406213, DA623889
      Consensus CDS
      CCDS82020.1
      UniProtKB/Swiss-Prot
      P13073
      UniProtKB/TrEMBL
      H3BNV9
      Related
      ENSP00000455030.1, OTTHUMP00000254037, ENST00000568794.5, OTTHUMT00000430837
      Conserved Domains (1) summary
      cd00922
      Location:26124
      Cyt_c_Oxidase_IV; Cytochrome c oxidase subunit IV. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
    4. NM_001318797.1NP_001305726.1  cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream start codon, compared to variant 1. It encodes isoform 4, which is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      BE615615, BE728651, BU599266, DB502762, U90915
      UniProtKB/Swiss-Prot
      P13073
      Related
      ENSP00000455301.1, OTTHUMP00000254039, ENST00000566405.5, OTTHUMT00000430840
      Conserved Domains (1) summary
      pfam02936
      Location:1130
      COX4; Cytochrome c oxidase subunit IV
    5. NM_001318802.1NP_001305731.1  cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' and 3' UTRs and 5' and 3' coding regions, compared to variant 1. It encodes isoform 5, which is shorter and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      BE615615, BM835194, BU599266, CD677397, DA623889, U90915
      UniProtKB/Swiss-Prot
      P13073
      Conserved Domains (1) summary
      cl02792
      Location:2165
      Cyt_c_Oxidase_IV; Cytochrome c oxidase subunit IV. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
    6. NM_001861.4NP_001852.1  cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_001852.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      BC062437, BE615615, BM835194, BU599266, DA623889
      Consensus CDS
      CCDS10955.1
      UniProtKB/Swiss-Prot
      P13073
      Related
      ENSP00000253452.2, OTTHUMP00000175004, ENST00000253452.6, OTTHUMT00000269101
      Conserved Domains (1) summary
      pfam02936
      Location:36168
      COX4; Cytochrome c oxidase subunit IV

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      85799567..85807003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      87244717..87252149
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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