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Protein

Cytochrome c oxidase subunit 6A1, mitochondrial

Gene

COX6A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-611105 Respiratory electron transport

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase subunit 6A1, mitochondrial
Alternative name(s):
Cytochrome c oxidase polypeptide VIa-liver
Cytochrome c oxidase subunit VIA-liver
Short name:
COX VIa-L
Gene namesi
Name:COX6A1
Synonyms:COX6AL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000111775.2
HGNCiHGNC:2277 COX6A1
MIMi602072 gene
neXtProtiNX_P12074

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease, recessive, intermediate type, D (CMTRID)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
See also OMIM:616039

Keywords - Diseasei

Charcot-Marie-Tooth disease, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi1337
MalaCardsiCOX6A1
MIMi616039 phenotype
OpenTargetsiENSG00000111775
PharmGKBiPA26794

Polymorphism and mutation databases

BioMutaiCOX6A1
DMDMi6166030

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 24Mitochondrion1 PublicationAdd BLAST24
ChainiPRO_000000611925 – 109Cytochrome c oxidase subunit 6A1, mitochondrialAdd BLAST85

Proteomic databases

EPDiP12074
MaxQBiP12074
PaxDbiP12074
PeptideAtlasiP12074
PRIDEiP12074
ProteomicsDBi52823
TopDownProteomicsiP12074

2D gel databases

SWISS-2DPAGEiP12074

PTM databases

iPTMnetiP12074
PhosphoSitePlusiP12074

Expressioni

Gene expression databases

BgeeiENSG00000111775
CleanExiHS_COX6A1
ExpressionAtlasiP12074 baseline and differential
GenevisibleiP12074 HS

Organism-specific databases

HPAiHPA062394

Interactioni

Protein-protein interaction databases

BioGridi107730, 16 interactors
IntActiP12074, 4 interactors
STRINGi9606.ENSP00000229379

Structurei

3D structure databases

ProteinModelPortaliP12074
SMRiP12074
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3469 Eukaryota
ENOG411253X LUCA
GeneTreeiENSGT00390000002756
HOGENOMiHOG000193965
HOVERGENiHBG060482
InParanoidiP12074
KOiK02266
OMAiHEEHERP
OrthoDBiEOG091G0C5F
PhylomeDBiP12074
TreeFamiTF105064

Family and domain databases

CDDicd00925 Cyt_c_Oxidase_VIa, 1 hit
Gene3Di4.10.95.10, 1 hit
InterProiView protein in InterPro
IPR001349 Cyt_c_oxidase_su6a
IPR018507 Cyt_c_oxidase_su6a_CS
IPR036418 Cyt_c_oxidase_su6a_sf
PANTHERiPTHR11504 PTHR11504, 1 hit
PfamiView protein in Pfam
PF02046 COX6A, 1 hit
PIRSFiPIRSF000277 COX6A1, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD006036 Cyt_c_oxidase_su6a, 1 hit
SUPFAMiSSF81411 SSF81411, 1 hit
PROSITEiView protein in PROSITE
PS01329 COX6A, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P12074-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAVVGVSSVS RLLGRSRPQL GRPMSSGAHG EEGSARMWKT LTFFVALPGV
60 70 80 90 100
AVSMLNVYLK SHHGEHERPE FIAYPHLRIR TKPFPWGDGN HTLFHNPHVN

PLPTGYEDE
Length:109
Mass (Da):12,155
Last modified:July 15, 1999 - v4
Checksum:i0040F47CECE767B1
GO

Sequence cautioni

The sequence CAA33392 differs from that shown. Reason: Frameshift at position 17.Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK312009 mRNA Translation: BAG34947.1
AL021546 Genomic DNA No translation available.
BC007723 mRNA Translation: AAH07723.1
BC070186 mRNA Translation: AAH70186.1
BC107861 mRNA Translation: AAI07862.1
X15341 mRNA Translation: CAA33392.1 Frameshift.
CCDSiCCDS9197.1
RefSeqiNP_004364.2, NM_004373.3
UniGeneiHs.369624

Genome annotation databases

EnsembliENST00000229379; ENSP00000229379; ENSG00000111775
GeneIDi1337
KEGGihsa:1337
UCSCiuc001tyf.2 human

Similar proteinsi

Entry informationi

Entry nameiCX6A1_HUMAN
AccessioniPrimary (citable) accession number: P12074
Secondary accession number(s): B2R500, O43714, Q32Q37
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: July 15, 1999
Last modified: June 20, 2018
This is version 173 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

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