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
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_25 AAA_16 DUF815 AAA_5 Rad17 ABC_tran AAA_22 DO-GTPase1 Polyoma_lg_T_C AAA_29 AAA_11 AAA_24 AAA_33 AAA_7 DUF5906 AAA_28 AAA_14 MMR_HSR1 ATPase ATPase_2 RuvB_N PPV_E1_C
Other DBs
NCBI-GeneID: 617
NCBI-ProteinID: NP_001073335
OMIM: 603647
HGNC: 1020
Ensembl: ENSG00000074582
UniProt: Q9Y276 A0A024R445
LinkDB
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

DBGET integrated database retrieval system