KEGG   Homo sapiens (human): 100303755
Entry
100303755         CDS       T01001                                 
Symbol
PET117, CSRP2BP, MC4DN19
Name
(RefSeq) PET117 cytochrome c oxidase chaperone
  KO
K18188  protein PET117
Organism
hsa  Homo sapiens (human)
Disease
H01368  Cytochrome c oxidase (COX) deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    100303755 (PET117)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-IV assembly factors
    100303755 (PET117)
SSDB
Motif
Pfam: PET117
Other DBs
NCBI-GeneID: 100303755
NCBI-ProteinID: NP_001158283
OMIM: 614771
HGNC: 40045
Ensembl: ENSG00000232838
UniProt: Q6UWS5 L0R6F6
LinkDB
Position
20:18137863..18143169
AA seq 81 aa
MSRSSKVVLGLSVLLTAATVAGVHVKQQWDQQRLRDGVIRDIERQIRKKENIRLLGEQII
LTEQLEAEREKMLLAKGSQKS
NT seq 246 nt   +upstreamnt  +downstreamnt
atgtctaggagctcgaaggtggtgctgggcctctcggtgctgctgacggcggccacagtg
gccggcgtacatgtgaagcagcagtgggaccagcagaggcttcgtgacggagttatcaga
gacattgagaggcaaattcggaaaaaagaaaacattcgtcttttgggagaacagattatt
ttgactgagcaacttgaagcagaaagagagaagatgttattggcaaaaggatctcaaaaa
tcatga

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