KEGG   Homo sapiens (human): 23479
Entry
23479             CDS       T01001                                 
Symbol
ISCU, 2310020H20Rik, HML, ISU2, NIFU, NIFUN, hnifU
Name
(RefSeq) iron-sulfur cluster assembly enzyme
  KO
K22068  iron-sulfur cluster assembly enzyme ISCU, mitochondrial
Organism
hsa  Homo sapiens (human)
Disease
H02866  Hereditary myopathy with lactic acidosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    23479 (ISCU)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Regulator of mitochondrial biogenesis
   Proteins involved in Fe-S cluster biogenesis
    23479 (ISCU)
SSDB
Motif
Pfam: NifU_N
Other DBs
NCBI-GeneID: 23479
NCBI-ProteinID: NP_998760
OMIM: 611911
HGNC: 29882
Ensembl: ENSG00000136003
UniProt: Q9H1K1 B3KQ30
Structure
LinkDB
Position
12:108561463..108569384
AA seq 167 aa
MAAAGAFRLRRAASALLLRSPRLPARELSAPARLYHKKVVDHYENPRNVGSLDKTSKNVG
TGLVGAPACGDVMKLQIQVDEKGKIVDARFKTFGCGSAIASSSLATEWVKGKTVEEALTI
KNTDIAKELCLPPVKLHCSMLAEDAIKAALADYKLKQEPKKGEAEKK
NT seq 504 nt   +upstreamnt  +downstreamnt
atggcggcggctggggctttccgtctgaggcgggcggcatcggctctgctgctgcggagc
ccccgcctgcccgcccgggagctgtcggccccggcccgactctatcacaagaaggttgtt
gatcattatgaaaatcctagaaacgtggggtcccttgacaagacatctaaaaatgttgga
actggactggtgggggctccagcatgtggtgacgtaatgaaattacagattcaagtggat
gaaaaggggaagattgtggatgctaggtttaaaacatttggctgtggttccgcaattgcc
tccagctcattagccactgaatgggtgaaaggaaagacggtggaggaagccttgactatc
aaaaacacagatatcgccaaggagctctgccttcctcccgtgaaactgcactgctccatg
ctggctgaagatgcaatcaaggccgccctggctgattacaaattgaaacaagaacccaaa
aaaggagaggcagagaagaaatga

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