KEGG   Homo sapiens (human): 617
Entry
617               CDS       T01001                                 
Symbol
BCS1L, BCS, BCS1, BJS, FLNMS, GRACILE, Hs.6719, MC3DN1, PTD, h-BCS, h-BCS1
Name
(RefSeq) BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
  KO
K08900  mitochondrial chaperone BCS1
Organism
hsa  Homo sapiens (human)
Disease
H00820  Bjornstad syndrome
H01354  Leigh syndrome
H02007  GRACILE syndrome
H02086  Mitochondrial complex III deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    617 (BCS1L)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-III assembly factors
    617 (BCS1L)
SSDB
Motif
Pfam: BCS1_N AAA RNA_helicase AAA_16 AAA_25 DUF815 AAA_5 Rad17 ABC_tran AAA_22 Polyoma_lg_T_C DO-GTPase1 AAA_29 AAA_11 AAA_18 DUF5906 AAA_24 AAA_7 AAA_33 MMR_HSR1 ATPase ATPase_2 RuvB_N AAA_28 AAA_14 PPV_E1_C
Other DBs
NCBI-GeneID: 617
NCBI-ProteinID: NP_001073335
OMIM: 603647
HGNC: 1020
Ensembl: ENSG00000074582
UniProt: Q9Y276 A0A024R445
Position
2:218658743..218663443
AA seq 419 aa
MPLSDFILALKDNPYFGAGFGLVGVGTALALARKGVQLGLVAFRRHYMITLEVPARDRSY
AWLLSWLTRHSTRTQHLSVETSYLQHESGRISTKFEFVPSPGNHFIWYRGKWIRVERSRE
MQMIDLQTGTPWESVTFTALGTDRKVFFNILEEARELALQQEEGKTVMYTAVGSEWRPFG
YPRRRRPLNSVVLQQGLADRIVRDVQEFIDNPKWYTDRGIPYRRGYLLYGPPGCGKSSFI
TALAGELEHSICLLSLTDSSLSDDRLNHLLSVAPQQSLVLLEDVDAAFLSRDLAVENPVK
YQGLGRLTFSGLLNALDGVASTEARIVFMTTNHVDRLDPALIRPGRVDLKEYVGYCSHWQ
LTQMFQRFYPGQAPSLAENFAEHVLRATNQISPAQVQGYFMLYKNDPVGAIHNAESLRR
NT seq 1260 nt   +upstreamnt  +downstreamnt
atgccactttcagactttattctggctctgaaggacaatccctactttggggctggattt
gggctggtgggtgtgggcacagccctggccctggcccggaagggtgtccaactgggcctg
gtggcattccggcgccattacatgatcacactggaagtccctgctcgagacaggagctat
gcctggttgcttagctggctcacccgccacagtacccgtactcagcacctcagtgtcgag
acttcgtaccttcagcatgagagtggccgcatttccactaagtttgaatttgtccccagc
cctggaaaccattttatctggtatcgggggaaatggattcgggtagaacgaagtcgagag
atgcagatgatagacttgcagacggggactccttgggaatctgtcaccttcacggccctg
ggcactgaccgaaaggttttcttcaacatcctggaggaagctcgagagctagccttgcag
caggaggaagggaagaccgtgatgtacacagctgtgggctctgaatggcgtccctttggc
tatccacgccgccggcgaccactgaattctgtggttctacaacagggtctggctgaccga
attgtcagagacgtccaggaattcatcgataaccccaagtggtacactgacagaggcatt
ccttacagacgtggctacctgctttatgggccccctggttgcggaaagagcagttttatc
acagccctggctggggaactggagcacagcatctgcctgctgagcctcacggactccagc
ctctctgatgaccgactcaaccacctgctgagcgtggccccgcagcagagcctggtactc
ctggaggatgtggatgctgcttttctcagtcgagacttggctgtggagaacccagtaaag
taccaaggcctaggtcgcctcaccttcagtggactgctcaatgccttggatggtgtggct
tccaccgaggcccgcatcgtgttcatgaccaccaaccacgttgacaggctggaccctgcc
ctgatacgcccggggcgagtggacctgaaggagtacgtgggctactgctcacactggcag
ctgacccagatgttccagaggttctatccagggcaggcaccttccttagctgagaacttt
gcagaacatgtccttcgagctacaaaccagatcagtcctgcccaggtgcagggctacttc
atgctgtataaaaatgaccctgtaggggcaattcacaatgctgagtctctgaggaggtga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (8)   
   KEGG DISEASE (4)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (25)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (15)   
   OC (1)   
Protein sequence (36)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (33)   
DNA sequence (66)   
   RefSeq(nuc) (34)   
   GenBank (16)   
   EMBL (16)   
Protein domain (26)   
   Pfam (26)   
All databases (164)   

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