KEGG   Homo sapiens (human): 80207
Entry
80207             CDS       T01001                                 
Symbol
OPA3, MGA3
Name
(RefSeq) outer mitochondrial membrane lipid metabolism regulator OPA3
  KO
K23166  optic atrophy 3 protein
Organism
hsa  Homo sapiens (human)
Disease
H00754  3-Methylglutaconic aciduria
H01020  Optic atrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    80207 (OPA3)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial dynamics
   Fission and Fusion factors
    80207 (OPA3)
SSDB
Motif
Pfam: OPA3 DUF2730 Cep57_MT_bd DUF6779
Other DBs
NCBI-GeneID: 80207
NCBI-ProteinID: NP_079412
OMIM: 606580
HGNC: 8142
Ensembl: ENSG00000125741
Pharos: Q9H6K4(Tbio)
UniProt: Q9H6K4
Position
19:complement(45527427..45584802)
AA seq 179 aa
MVVGAFPMAKLLYLGIRQVSKPLANRIKEAARRSEFFKTYICLPPAQLYHWVEMRTKMRI
MGFRGTVIKPLNEEAAAELGAELLGEATIFIVGGGCLVLEYWRHQAQQRHKEEEQRAAWN
ALRDEVGHLALALEALQAQVQAAPPQGALEELRTELQEVRAQLCNPGRSASHAVPASKK
NT seq 540 nt   +upstreamnt  +downstreamnt
atggtggtgggcgcgttccctatggcgaagctgctatacttgggcatccggcaggtcagc
aagccgcttgccaaccgtattaaggaggccgcccgccgaagcgagttcttcaagacctat
atctgcctcccgccggctcaactgtatcactgggtggagatgcggaccaagatgcgcatc
atgggcttccggggcacggtcatcaagccgctgaacgaggaggcggcagctgagctgggc
gcagagctgctgggcgaagccaccatcttcatcgtgggcggcggctgcctagtgctggag
tactggcgccaccaggcgcagcagcgccacaaggaggaggagcagcgtgctgcctggaac
gcgctgcgggacgaggtgggccacctggcgctggcgctggaagcgctgcaggcgcaggtg
caggcggcgccgccacagggcgccctggaggaactgcgcacagagctgcaagaggtgcgc
gcccagctctgcaatcccggccggtccgcttcccacgcagtgcctgcgtccaagaaatag

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