Homo sapiens (human): 200205
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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)
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Gene cluster
GFIT
Motif
Pfam:
GCV_T
Motif
Other DBs
NCBI-GeneID:
200205
NCBI-ProteinID:
NP_001010867
OMIM:
615316
HGNC:
27302
Ensembl:
ENSG00000181873
UniProt:
Q5T440
Structure
PDB
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All DBs
Position
1:228165804..228182257
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AA seq
356 aa
AA seq
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MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAGAAWACFRLDGRTLLR
VRGPDAAPFLLGLLTNELPLPSPAAAGAPPAARAGYAHFLNVQGRTLYDVILYGLQEHSE
VSGFLLECDSSVQGALQKHLALYRIRRKVTVEPHPELRVWAVLPSSPEACGAASLQERAG
AAAILIRDPRTARMGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVA
LPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFPVRFLDPLPTSGITPGATVL
TASGQTVGKFRAGQGNVGLALLWSEKIKGPLHIRASEGAQVALAASVPDWWPTVSK
NT seq
1071 nt
NT seq
+upstream
nt +downstream
nt
atggcgaccgcggcgctgcttcgaggcgccactccggggcgcggcggcccggtctggcgc
tggcggctgcgcgcggccccaaggtgccgcctggcccacagctcctgcagtcctggtggc
gacccaacggccggagcggcctgggcctgcttccggctggacgggcgcaccctgctgcgc
gtgcgtggccccgacgcggcgcccttcctgctagggctgctgaccaatgaactgccgctt
ccgagtcctgcggccgcgggggccccgcctgctgcgcgcgcgggctacgcccacttcctg
aacgtgcagggccggacgctctatgacgtcatcttgtacgggctccaggaacactcggag
gtgtctggcttccttctggagtgtgacagctcggtgcagggcgcgctgcagaagcacctc
gcgctatacaggatccggcggaaggtcacggtggagccgcacccggagctgcgagtgtgg
gcggtgttgcccagttcccctgaggcctgcggggctgcatcgctgcaggagagggcaggg
gctgccgccatcctcatccgcgacccgcgaacagcacgcatggggtggcggctcctcacc
caggatgaaggcccagccctggtgcccgggggccggctcggggacttgtgggattatcac
cagcaccgatacctgcaaggcgttcctgagggggtccgagacttgcctcctggggtggcc
ctgcccctggagtccaacctggccttcatgaacggcgtgagcttcaccaaaggctgctac
attggccaggagctgacggcccgcacccaccacatgggcgtcatccgcaagcgcctcttc
cctgtccggttcttggacccccttcccaccagtggcatcacccctggtgccacggtgctg
actgcctcaggacagactgtgggcaagttcagggctggccagggcaacgtggggctggcc
ctgctgtggtcagagaagatcaagggtcctctgcacatcagagcctctgagggtgcccag
gtggccttagccgcatctgtgccagactggtggcctacagtctccaagtag
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