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Cox6a1 Gene Detail
Summary
  • Symbol
    Cox6a1
  • Name
    cytochrome c oxidase subunit VIa polypeptide 1
  • Synonyms
    subunit VIaL (liver-type), VIaL
  • Feature Type
    protein coding gene
  • IDs
    MGI:103099
    NCBI Gene: 12861
Location & Maps
more
  • Sequence Map
    Chr5:115345642-115348981 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3340 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    COX6A1, cytochrome c oxidase subunit VIa polypeptide 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    COX6A1, cytochrome c oxidase subunit VIa polypeptide 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CMTRID, COX6A, COX6AL
  • Links
    NCBI Gene ID: 1337
    neXtProt AC: NX_P12074

  • Chr Location
    12q24.2; chr12:120438090-120440742 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human COX6A1 associations

Human Disease Mouse Models
       Charcot-Marie-Tooth Disease, Recessive Intermediate D; CMTRID   OMIM: 616039
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    1
  • Gene trapped
    5
  • Radiation induced
    1
  • Targeted
    1
  • Genomic Mutations
    2 involving Cox6a1
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014656 VEGA Gene Model | MGI Sequence Detail 3340 C57BL/6J ±  kb
transcript OTTMUST00000034761 VEGA | MGI Sequence Detail 571 Not Applicable  
polypeptide OTTMUSP00000015557 VEGA | MGI Sequence Detail 112 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    27 from dbSNP Build 137
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000005781 cytochrome c oxidase subunit 6A1, mitochondrial
  • InterPro Domains
    IPR001349 Cytochrome c oxidase, subunit VIa
    IPR018507 Cytochrome c oxidase, subunit VIa, conserved site
Molecular
Reagents
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  • All nucleic 361
    cDNA 360
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-23963
References
more
  • Summaries
    All 35
    Developmental Gene Expression 1
    Gene Ontology 5
    Phenotypes 10
  • Earliest
    J:23130 Grossman LI, et al., Cloning, sequence analysis, and expression of a mouse cDNA encoding cytochrome c oxidase subunit VIa liver isoform. Biochim Biophys Acta. 1995 Feb 21;1260(3):361-4
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory