Details for: COA7

Gene ID: 65260

Symbol: COA7

Ensembl ID: ENSG00000162377

Description: cytochrome c oxidase assembly factor 7

Associated with

Other Information

Genular Protein ID: 2609551779

Symbol: COA7_HUMAN

Name: Cytochrome c oxidase assembly factor 7

UniProtKB Accession Codes:

Q96BR5 Q0P6I7 Q9H9Z9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 EPD 1 Ensembl 1 GO 3 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 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 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 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 RefSeq 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24333015

Title: C1orf163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly.

PubMed ID: 24333015

DOI: 10.1016/j.jmb.2013.12.001

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27683825

Title: COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.

PubMed ID: 27683825

DOI: 10.1136/jmedgenet-2016-104194

PubMed ID: 29718187

Title: Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

PubMed ID: 29718187

DOI: 10.1093/brain/awy104

PubMed ID: 30885959

Title: Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.

PubMed ID: 30885959

DOI: 10.15252/emmm.201809561

Sequence Information:

  • Length: 231
  • Mass: 25709
  • Checksum: DB7E2BEDCC0ECE8B
  • Sequence:
    • MAGMVDFQDE EQVKSFLENM EVECNYHCYH EKDPDGCYRL VDYLEGIRKN FDEAAKVLKF 
NCEENQHSDS CYKLGAYYVT GKGGLTQDLK AAARCFLMAC EKPGKKSIAA CHNVGLLAHD 
GQVNEDGQPD LGKARDYYTR ACDGGYTSSC FNLSAMFLQG APGFPKDMDL ACKYSMKACD 
LGHIWACANA SRMYKLGDGV DKDEAKAEVL KNRAQQLHKE QQKGVQPLTF G

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.