KEGG   Homo sapiens (human): 27247
Entry
27247             CDS       T01001                                 
Symbol
NFU1, CGI-33, HIRIP, HIRIP5, MMDFS, MMDS1, NIFUC, Nfu, NifU, SPG93
Name
(RefSeq) NFU1 iron-sulfur cluster scaffold
  KO
K22074  NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
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]
    27247 (NFU1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Regulator of mitochondrial biogenesis
   Proteins involved in Fe-S cluster biogenesis
    27247 (NFU1)
SSDB
Motif
Pfam: Nfu_N NifU
Other DBs
NCBI-GeneID: 27247
NCBI-ProteinID: NP_001002755
OMIM: 608100
HGNC: 16287
Ensembl: ENSG00000169599
UniProt: Q9UMS0
Structure
LinkDB
Position
2:complement(69395750..69439567)
AA seq 254 aa
MAATARRGWGAAAVAAGLRRRFCHMLKNPYTIKKQPLHQFVQRPLFPLPAAFYHPVRYMF
IQTQDTPNPNSLKFIPGKPVLETRTMDFPTPAAAFRSPLARQLFRIEGVKSVFFGPDFIT
VTKENEELDWNLLKPDIYATIMDFFASGLPLVTEETPSGEAGSEEDDEVVAMIKELLDTR
IRPTVQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKNGIQNMLQFYIPEVEGVEQ
VMDDESDEKEANSP
NT seq 765 nt   +upstreamnt  +downstreamnt
atggcggcgacggccaggcggggctggggagctgcggctgttgccgccgggctgcgcagg
cggttctgtcatatgttgaagaatccatacaccattaagaaacagcctctgcatcagttt
gtacaaagaccacttttcccactacctgcagccttttatcacccagtgagatacatgttt
attcaaacacaagataccccaaatccaaacagcttaaagtttataccaggaaaaccagtt
cttgagacaaggaccatggattttcccaccccagctgcagcatttcgctcccctctggct
aggcagttatttaggattgaaggagtaaaaagtgtcttctttggaccagatttcatcact
gtcacaaaggaaaatgaagaattagactggaatttactgaaaccagatatttatgcaaca
atcatggacttctttgcatctggcttacccctggttactgaggaaacaccttcaggagaa
gcaggatctgaagaagatgatgaagttgtggcaatgattaaggaattgttagatactaga
atacggccaactgtgcaggaagatggaggggatgtaatctacaaaggctttgaagatggc
attgtacagctgaaactccagggttcttgtaccagctgccctagttcaatcattactctg
aaaaatggaattcagaacatgctgcagttttatattccggaggtagaaggcgtagaacag
gttatggatgatgaatcagatgaaaaagaagcaaactcaccttaa

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