KEGG   Homo sapiens (human): 9391
Entry
9391              CDS       T01001                                 
Symbol
CIAO1, CIA1, MMDS10, WDR39
Name
(RefSeq) cytosolic iron-sulfur assembly component 1
  KO
K24730  cytosolic iron-sulfur protein assembly protein CIAO1
Organism
hsa  Homo sapiens (human)
Disease
H01894  Multiple mitochondrial dysfunctions syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    9391 (CIAO1)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    9391 (CIAO1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Spindle formation proteins
    9391 (CIAO1)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  SSBR (single strand breaks repair)
   NER (nucleotide excision repair)
    Other NER factors
     9391 (CIAO1)
SSDB
Motif
Pfam: WD40 WD40_Prp19 WD40_WDHD1_1st Beta-prop_CAF1B_HIR1 WD40_CDC20-Fz Beta-prop_EML_2 Beta-prop_TEP1_2nd Beta-prop_IFT140_1st WDR55 ANAPC4_WD40 WD40_MABP1-WDR62_2nd Beta-prop_RIG_2nd Beta-prop_WDR19_1st EIF3I Beta-prop_WDR35_TULP_N Beta-prop_IFT122_1st Beta-prop_WDR75_1st Beta-prop_WDR90_POC16_2nd Beta-prop_EIPR1 Beta-prop_EML Beta-prop_Vps41 NBCH_WD40 WDR90_beta-prop_4th Beta-prop_TEP1_C Beta-prop_ELP1_1st eIF2A Beta-prop_DCAF12 B-prop_COPA_B_2nd Beta-prop_HPS5 WD40_RFWD3 PROPPIN WD40_MABP1-WDR62_1st Beta-prop_NUP159_NUP214 Beta-prop_SPT8 RMC1_N
Other DBs
NCBI-GeneID: 9391
NCBI-ProteinID: NP_004795
OMIM: 604333
HGNC: 14280
Ensembl: ENSG00000144021
UniProt: O76071
Structure
LinkDB
Position
2:96266225..96274173
AA seq 339 aa
MKDSLVLLGRVPAHPDSRCWFLAWNPAGTLLASCGGDRRIRIWGTEGDSWICKSVLSEGH
QRTVRKVAWSPCGNYLASASFDATTCIWKKNQDDFECVTTLEGHENEVKSVAWAPSGNLL
ATCSRDKSVWVWEVDEEDEYECVSVLNSHTQDVKHVVWHPSQELLASASYDDTVKLYREE
EDDWVCCATLEGHESTVWSLAFDPSGQRLASCSDDRTVRIWRQYLPGNEQGVACSGSDPS
WKCICTLSGFHSRTIYDIAWCQLTGALATACGDDAIRVFQEDPNSDPQQPTFSLTAHLHQ
AHSQDVNCVAWNPKEPGLLASCSDDGEVAFWKYQRPEGL
NT seq 1020 nt   +upstreamnt  +downstreamnt
atgaaggactcgctggtgctgctgggccgtgtcccggcgcacccggactcccgctgctgg
ttcctggcctggaaccccgcggggaccctgctggcctcgtgcggcggcgaccggagaatc
cgcatctggggcacggagggtgacagctggatctgcaagtctgtcctttctgaaggccac
cagcgcaccgtgcggaaggtagcctggtccccctgcggtaattacctggcctctgccagc
tttgatgctaccacttgcatttggaagaagaaccaggatgactttgagtgtgtaaccact
ctcgagggccatgaaaatgaggtcaagtcagtggcttgggccccatctggcaacctcctg
gccacttgcagccgagataagagcgtttgggtctgggaagttgatgaagaggatgagtat
gaatgtgtcagtgttctcaactcccacacacaggatgtcaagcatgtggtttggcaccca
agtcaggagctcttagcttctgccagctatgatgacacagtgaagctgtaccgggaggaa
gaggatgactgggtatgctgtgccacccttgagggccatgaatccactgtgtggagcttg
gcctttgacccgagtggccagcgcctggcgtcttgtagtgatgaccgtactgtgcgtatc
tggcgtcagtatctaccaggcaatgaacaaggggtggcatgcagcggctctgaccccagt
tggaaatgtatctgtactttgtccggcttccactcaaggaccatttatgacattgcttgg
tgtcagctgacaggggctctggccacagcttgtggggatgacgcgatccgcgtgtttcag
gaggatcccaactcggatccacagcagcccaccttctccctgacagcccacttgcatcag
gcccattcccaggatgtcaactgtgtggcctggaaccccaaggagccagggctactggcc
tcctgcagtgatgatggggaggtggccttctggaagtatcagcggcctgaaggcctctga

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