KEGG   Homo sapiens (human): 2395Help
Entry
2395              CDS       T01001                                 

Gene name
FXN, CyaY, FA, FARR, FRDA, X25
Definition
(RefSeq) frataxin
  KO
K19054  frataxin [EC:1.16.3.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00860  Porphyrin and chlorophyll metabolism
Disease
H00067  Friedreich ataxia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin and chlorophyll metabolism
    2395 (FXN)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    2395 (FXN)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.16  Oxidizing metal ions
   1.16.3  With oxygen as acceptor
    1.16.3.1  ferroxidase
     2395 (FXN)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Regulator of mitochondrial biogenesis
   Proteins involved in Fe-S cluster biogenesis
    2395 (FXN)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Frataxin_Cyay ORF_12_N
Motif
Other DBs
NCBI-GeneID: 2395
NCBI-ProteinID: NP_000135
OMIM: 606829
HGNC: 3951
Ensembl: ENSG00000165060
Vega: OTTHUMG00000019977
Pharos: Q16595(Tbio)
UniProt: Q16595 A0A0S2Z3G4
Structure
PDB: 

Position
9q21.11
AA seq 210 aa AA seqDB search
MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQR
GLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTF
EDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPSSGPKRYDWTGKNWVYSHDGV
SLHELLAAELTKALKTKLDLSSLAYSGKDA
NT seq 633 nt NT seq  +upstreamnt  +downstreamnt
atgtggactctcgggcgccgcgcagtagccggcctcctggcgtcacccagcccagcccag
gcccagaccctcacccgggtcccgcggccggcagagttggccccactctgcggccgccgt
ggcctgcgcaccgacatcgatgcgacctgcacgccccgccgcgcaagttcgaaccaacgt
ggcctcaaccagatttggaatgtcaaaaagcagagtgtctatttgatgaatttgaggaaa
tctggaactttgggccacccaggctctctagatgagaccacctatgaaagactagcagag
gaaacgctggactctttagcagagttttttgaagaccttgcagacaagccatacacgttt
gaggactatgatgtctcctttgggagtggtgtcttaactgtcaaactgggtggagatcta
ggaacctatgtgatcaacaagcagacgccaaacaagcaaatctggctatcttctccatcc
agtggacctaagcgttatgactggactgggaaaaactgggtgtactcccacgacggcgtg
tccctccatgagctgctggccgcagagctcactaaagccttaaaaaccaaactggacttg
tcttccttggcctattccggaaaagatgcttga

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