KEGG   Homo sapiens (human): 91574
Entry
91574             CDS       T01001                                 
Symbol
MTRFR, C12orf65, COXPD7, SPG55, mtRF-R
Name
(RefSeq) mitochondrial translation release factor in rescue
  KO
K23498  peptide chain release factor
Organism
hsa  Homo sapiens (human)
Disease
H00266  Hereditary spastic paraplegia
H00891  Combined oxidative phosphorylation deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    91574 (MTRFR)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial transcription and translation factors
   Other mitochondrial DNA transcription and translation factors
    91574 (MTRFR)
SSDB
Motif
Pfam: RF-1
Other DBs
NCBI-GeneID: 91574
NCBI-ProteinID: NP_001137377
OMIM: 613541
HGNC: 26784
Ensembl: ENSG00000130921
Pharos: Q9H3J6(Tbio)
UniProt: Q9H3J6
Structure
Position
12:123232914..123257960
AA seq 166 aa
MSTVGLFHFPTPLTRICPAPWGLRLWEKLTLLSPGIAVTPVQMAGKKDYPALLSLDENEL
EEQFVKGHGPGGQATNKTSNCVVLKHIPSGIVVKCHQTRSVDQNRKLARKILQEKVDVFY
NGENSPVHKEKREAAKKKQERKKRAKETLEKKKLLKELWESSKKVH
NT seq 501 nt   +upstreamnt  +downstreamnt
atgagcaccgtgggtttatttcattttcctacaccactgacccgaatatgcccggcgcca
tggggactccggctttgggagaagctgacgttgttatccccaggaatagctgtcactccg
gtccagatggcaggcaagaaggactaccctgcactgctttccttggatgagaatgaactc
gaagagcagtttgtgaaaggacacggtccagggggccaggcaaccaacaaaaccagcaac
tgcgtggtgctgaagcacatcccctcaggcatcgttgtaaagtgccatcagacaagatca
gttgatcagaacagaaagctagctcggaaaatcctacaagagaaagtagatgttttctac
aatggtgaaaacagtcctgttcacaaagaaaaacgagaagcggcgaagaaaaaacaagaa
aggaaaaaaagagcaaaggaaaccctggaaaaaaagaagctacttaaagaactgtgggag
tcaagtaaaaaggtccactga

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