KEGG   Homo sapiens (human): 2395
Entry
2395              CDS       T01001                                 
Symbol
FXN, CyaY, FA, FARR, FRDA, X25
Name
(RefSeq) frataxin
  KO
K19054  frataxin [EC:1.16.3.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00860  Porphyrin metabolism
Disease
H00067  Friedreich ataxia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin 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)
SSDB
Motif
Pfam: Frataxin_Cyay ORF_12_N Nudt16-like
Other DBs
NCBI-GeneID: 2395
NCBI-ProteinID: NP_000135
OMIM: 606829
HGNC: 3951
Ensembl: ENSG00000165060
UniProt: Q16595 A0A0S2Z3G4
Structure
Position
9:69035752..69079076
AA seq 210 aa
MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQR
GLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTF
EDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPSSGPKRYDWTGKNWVYSHDGV
SLHELLAAELTKALKTKLDLSSLAYSGKDA
NT seq 633 nt   +upstreamnt  +downstreamnt
atgtggactctcgggcgccgcgcagtagccggcctcctggcgtcacccagcccagcccag
gcccagaccctcacccgggtcccgcggccggcagagttggccccactctgcggccgccgt
ggcctgcgcaccgacatcgatgcgacctgcacgccccgccgcgcaagttcgaaccaacgt
ggcctcaaccagatttggaatgtcaaaaagcagagtgtctatttgatgaatttgaggaaa
tctggaactttgggccacccaggctctctagatgagaccacctatgaaagactagcagag
gaaacgctggactctttagcagagttttttgaagaccttgcagacaagccatacacgttt
gaggactatgatgtctcctttgggagtggtgtcttaactgtcaaactgggtggagatcta
ggaacctatgtgatcaacaagcagacgccaaacaagcaaatctggctatcttctccatcc
agtggacctaagcgttatgactggactgggaaaaactgggtgtactcccacgacggcgtg
tccctccatgagctgctggccgcagagctcactaaagccttaaaaaccaaactggacttg
tcttccttggcctattccggaaaagatgcttga

  All links  
Disease (3)   
   OMIM (3)   
Gene (34)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (11)   
   OC (1)   
   PROTHERM (16)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (21)   
   RefSeq(nuc) (3)   
   GenBank (9)   
   EMBL (9)   
3D Structure (16)   
   PDB (16)   
Protein domain (3)   
   Pfam (3)   
All databases (82)   

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