KEGG   Homo sapiens (human): 6834
Entry
6834              CDS       T01001                                 
Symbol
SURF1, CMT4K, MC4DN1, SHY1
Name
(RefSeq) SURF1 cytochrome c oxidase assembly factor
  KO
K14998  surfeit locus 1 family protein
Organism
hsa  Homo sapiens (human)
Disease
H00264  Charcot-Marie-Tooth disease
H01354  Leigh syndrome
H01368  Cytochrome c oxidase (COX) deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    6834 (SURF1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-IV assembly factors
    6834 (SURF1)
SSDB
Motif
Pfam: SURF1
Other DBs
NCBI-GeneID: 6834
NCBI-ProteinID: NP_003163
OMIM: 185620
HGNC: 11474
Ensembl: ENSG00000148290
UniProt: Q15526 E5KRX5
Position
9:complement(133351758..133356487)
AA seq 300 aa
MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRCGSSAAEASATKAEDDS
FLQWVLLLIPVTAFGLGTWQVQRRKWKLNLIAELESRVLAEPVPLPADPMELKNLEYRPV
KVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGAYVVTPFHCTDLGVTILVNRG
FVPRKKVNPETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITG
AEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYIVTWYGLSAATSYLWFKKFLRGTPGV
NT seq 903 nt   +upstreamnt  +downstreamnt
atggcggcggtggctgcgttgcagctggggctgcgggcggcggggctgggacgggccccg
gccagcgccgcctggaggagcgtcctcagggtctccccgcgcccaggggtggcctggagg
ccaagcagatgtggcagttctgcagcagaagcatctgccacaaaagcggaagatgactcc
tttcttcagtgggtcctgctcctcatccctgtgactgcctttggcttggggacatggcag
gtccagcgtcggaagtggaagctgaacctgattgcagagttggagtccagagttctggct
gagcctgtccctctgccagccgacccaatggaactgaaaaatctggagtataggccagtg
aaggtcagggggtgctttgaccattccaaggagctgtatatgatgccccggaccatggtg
gaccctgtccgggaggcccgggagggcggcctcatctcctcctcaactcagagtggggcc
tatgtggtcactcccttccactgcaccgacctgggagtcaccatcctggtaaatagaggg
ttcgttcccaggaagaaagtgaatcctgaaacccggcagaaaggccagattgagggagaa
gtggacctcattgggatggtgaggctgacagaaaccaggcagccttttgtccctgagaac
aatccagaaaggaaccactggcattatcgagacctggaagctatggccagaatcacaggc
gcagagcccatcttcattgatgccaacttccagagcacagtccctggaggacccattgga
gggcaaaccagagttactctgaggaacgagcatctgcagtacatcgtgacctggtatgga
ctctctgcagctacatcctacctgtggtttaagaaattcctacgtgggacacctggtgtg
tga

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