Details for: COX4I1

Gene ID: 1327

Symbol: COX4I1

Ensembl ID: ENSG00000131143

Description: cytochrome c oxidase subunit 4I1

Associated with

Other Information

Genular Protein ID: 2422795391

Symbol: COX41_HUMAN

Name: Cytochrome c oxidase subunit 4 isoform 1, mitochondrial

UniProtKB Accession Codes:

P13073 B2R4J2 D3DUM7 Q6P666

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 CarbonylDB 1 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 14 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 6 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 4 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2444497

Title: Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase.

PubMed ID: 2444497

DOI: 10.1016/0378-1119(87)90281-2

PubMed ID: 2157630

Title: Novel use of a chimpanzee pseudogene for chromosomal mapping of human cytochrome c oxidase subunit IV.

PubMed ID: 2157630

DOI: 10.1016/0378-1119(90)90281-u

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10337626

Title: The 5-prime region of the COX4 gene contains a novel overlapping gene, NOC4.

PubMed ID: 10337626

DOI: 10.1007/s003359901031

PubMed ID: 1311608

Title: Subunit IV of human cytochrome c oxidase, polymorphism and a putative isoform.

PubMed ID: 1311608

DOI: 10.1016/0167-4838(92)90395-t

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 26759378

Title: The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits.

PubMed ID: 26759378

DOI: 10.1042/bj20151029

PubMed ID: 28766551

Title: Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.

PubMed ID: 28766551

DOI: 10.1038/ejhg.2017.112

PubMed ID: 31290619

Title: Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.

PubMed ID: 31290619

DOI: 10.1002/ajmg.a.61288

PubMed ID: 28844695

Title: Architecture of human mitochondrial respiratory megacomplex I2III2IV2.

PubMed ID: 28844695

DOI: 10.1016/j.cell.2017.07.050

PubMed ID: 30030519

Title: Structure of the intact 14-subunit human cytochrome c oxidase.

PubMed ID: 30030519

DOI: 10.1038/s41422-018-0071-1

Sequence Information:

  • Length: 169
  • Mass: 19577
  • Checksum: F6382FFDCF3BE4ED
  • Sequence:
    • MLATRVFSLV GKRAISTSVC VRAHESVVKS EDFSLPAYMD RRDHPLPEVA HVKHLSASQK 
ALKEKEKASW SSLSMDEKVE LYRIKFKESF AEMNRGSNEW KTVVGGAMFF IGFTALVIMW 
QKHYVYGPLP QSFDKEWVAK QTKRMLDMKV NPIQGLASKW DYEKNEWKK

Genular Protein ID: 2226600151

Symbol: Q86WV2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q86WV2

Database IDs:

ARBA 10 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 3 EPD 1 Ensembl 2 GO 2 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 2 KEGG 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SUPFAM 1 UCSC 1 UniPathway 1 VEuPathDB 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 83
  • Mass: 9291
  • Checksum: 8DB8AE40FDAE8909
  • Sequence:
    • MLATRVFSLV GKRAISTSVC VRAHESVVKS EDFSLPAYMD RRDHPLPEVA HVKHLSASQK 
ALKEKEKASW SSLSMDEKVE CGY

Genular Protein ID: 1621839967

Symbol: H3BNV9_HUMAN

Name: N/A

UniProtKB Accession Codes:

H3BNV9

Database IDs:

ARBA 7 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 1 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 3 MassIVE 1 MaxQB 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SMR 1 SUPFAM 1 UCSC 1 UniPathway 1 VEuPathDB 1

Citations:

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 139
  • Mass: 15725
  • Checksum: 13EBD2AFE2084F8C
  • Sequence:
    • MLATRVFSLV GKRAISTSVC VRAHESVVKS EDFSLPAYMD RRDHPLPEVA HVKHLSASQK 
ALKEKEKASW SSLSMDEKVE LYRIKFKESF AEMNRGSNEW KTVVGGAMFF IGFTALVIMW 
QKHYGHLGLC LSDPVIHSL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.