KEGG   Homo sapiens (human): 200205
Entry
200205            CDS       T01001                                 
Symbol
IBA57, C1orf69, MMDS3, SPG74
Name
(RefSeq) iron-sulfur cluster assembly factor IBA57
  KO
K22073  transferase CAF17, mitochondrial [EC:2.1.-.-]
Organism
hsa  Homo sapiens (human)
Disease
H00266  Hereditary spastic paraplegia
H01894  Multiple mitochondrial dysfunctions syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    200205 (IBA57)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Regulator of mitochondrial biogenesis
   Proteins involved in Fe-S cluster biogenesis
    200205 (IBA57)
SSDB
Motif
Pfam: GCV_T
Other DBs
NCBI-GeneID: 200205
NCBI-ProteinID: NP_001010867
OMIM: 615316
HGNC: 27302
Ensembl: ENSG00000181873
UniProt: Q5T440
Structure
LinkDB
Position
1:228165804..228182257
AA seq 356 aa
MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAGAAWACFRLDGRTLLR
VRGPDAAPFLLGLLTNELPLPSPAAAGAPPAARAGYAHFLNVQGRTLYDVILYGLQEHSE
VSGFLLECDSSVQGALQKHLALYRIRRKVTVEPHPELRVWAVLPSSPEACGAASLQERAG
AAAILIRDPRTARMGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVA
LPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFPVRFLDPLPTSGITPGATVL
TASGQTVGKFRAGQGNVGLALLWSEKIKGPLHIRASEGAQVALAASVPDWWPTVSK
NT seq 1071 nt   +upstreamnt  +downstreamnt
atggcgaccgcggcgctgcttcgaggcgccactccggggcgcggcggcccggtctggcgc
tggcggctgcgcgcggccccaaggtgccgcctggcccacagctcctgcagtcctggtggc
gacccaacggccggagcggcctgggcctgcttccggctggacgggcgcaccctgctgcgc
gtgcgtggccccgacgcggcgcccttcctgctagggctgctgaccaatgaactgccgctt
ccgagtcctgcggccgcgggggccccgcctgctgcgcgcgcgggctacgcccacttcctg
aacgtgcagggccggacgctctatgacgtcatcttgtacgggctccaggaacactcggag
gtgtctggcttccttctggagtgtgacagctcggtgcagggcgcgctgcagaagcacctc
gcgctatacaggatccggcggaaggtcacggtggagccgcacccggagctgcgagtgtgg
gcggtgttgcccagttcccctgaggcctgcggggctgcatcgctgcaggagagggcaggg
gctgccgccatcctcatccgcgacccgcgaacagcacgcatggggtggcggctcctcacc
caggatgaaggcccagccctggtgcccgggggccggctcggggacttgtgggattatcac
cagcaccgatacctgcaaggcgttcctgagggggtccgagacttgcctcctggggtggcc
ctgcccctggagtccaacctggccttcatgaacggcgtgagcttcaccaaaggctgctac
attggccaggagctgacggcccgcacccaccacatgggcgtcatccgcaagcgcctcttc
cctgtccggttcttggacccccttcccaccagtggcatcacccctggtgccacggtgctg
actgcctcaggacagactgtgggcaagttcagggctggccagggcaacgtggggctggcc
ctgctgtggtcagagaagatcaagggtcctctgcacatcagagcctctgagggtgcccag
gtggccttagccgcatctgtgccagactggtggcctacagtctccaagtag

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