|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:ATP_synthase_F0_subunit_6
gptkb:ATPase6
gptkb:MTATP6
|
|
gptkbp:associatedWith
|
gptkb:mitochondrial_complex_V_deficiency
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:component
|
gptkb:ATP_synthase_(Complex_V)
|
|
gptkbp:conservedIn
|
highly conserved among eukaryotes
|
|
gptkbp:encodes
|
gptkb:ATP_synthase_subunit_a
|
|
gptkbp:Entrez_Gene_ID
|
4508
|
|
gptkbp:expressedIn
|
mitochondria
|
|
gptkbp:fullName
|
gptkb:mitochondrially_encoded_ATP_synthase_membrane_subunit_6
|
|
gptkbp:function
|
ATP synthesis
proton transport
|
|
gptkbp:gene
|
gptkb:MT-ATP6
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
7411
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MT-ATP6
|
|
gptkbp:inheritance
|
mitochondrial
maternally
|
|
gptkbp:length
|
681 bp
|
|
gptkbp:locatedIn
|
gptkb:mitochondrial_DNA
|
|
gptkbp:locatedOnChromosome
|
gptkb:mitochondrial_chromosome
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Leigh_syndrome
gptkb:MILS_(maternally_inherited_Leigh_syndrome)
gptkb:NARP_syndrome
nonsense
deletion
insertion
missense
frameshift
|
|
gptkbp:neighboringGene
|
gptkb:MT-CO3
gptkb:MT-ATP8
|
|
gptkbp:OMIM
|
516060
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Drosophila_melanogaster
|
|
gptkbp:pathway
|
oxidative phosphorylation
energy metabolism
|
|
gptkbp:product
|
gptkb:ATP_synthase_subunit_a
|
|
gptkbp:proteinComplex
|
gptkb:F0F1_ATP_synthase
|
|
gptkbp:referenceGenome
|
gptkb:NC_012920.1
|
|
gptkbp:startPoint
|
8527
9207
|
|
gptkbp:strand
|
heavy strand
|
|
gptkbp:transcriptionDirection
|
5' to 3' on heavy strand
|
|
gptkbp:translatedInto
|
226 amino acids
|
|
gptkbp:UniProtID
|
P00846
|
|
gptkbp:bfsParent
|
gptkb:ATP_synthase
gptkb:Leigh_syndrome
|
|
gptkbp:bfsLayer
|
7
|