KEGG   Homo sapiens (human): 54968
Entry
54968             CDS       T01001                                 
Symbol
TMEM70, MC5DN2
Name
(RefSeq) transmembrane protein 70, mitochondrial isoform a
  KO
K17966  transmembrane protein 70, mitochondrial
Organism
hsa  Homo sapiens (human)
Disease
H01369  ATP synthase deficiency
H01400  Secondary hyperammonemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    54968 (TMEM70)
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    54968 (TMEM70)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-V assembly factors
    54968 (TMEM70)
Transporters [BR:hsa02000]
 Other transporters
  Accessory factors involved in transport [TC:8]
   54968 (TMEM70)
SSDB
Motif
Pfam: TMEM70 FMP33
Other DBs
NCBI-GeneID: 54968
NCBI-ProteinID: NP_060336
OMIM: 612418
HGNC: 26050
Ensembl: ENSP00000312599.5
UniProt: Q9BUB7
LinkDB
Position
8:73976195..73982783
AA seq 260 aa
MLFLALGSPWAVELPLCGRRTALCAAAALRGPRASVSRASSSSGPSGPVAGWSTGPSGAA
RLLRRPGRAQIPVYWEGYVRFLNTPSDKSEDGRLIYTGNMARAVFGVKCFSYSTSLIGLT
FLPYIFTQNNAISESVPLPIQIIFYGIMGSFTVITPVLLHFITKGYVIRLYHEATTDTYK
AITYNAMLAETSTVFHQNDVKIPDAKHVFTTFYAKTKSLLVNPVLFPNREDYIHLMGYDK
EEFILYMEETSEEKRHKDDK
NT seq 783 nt   +upstreamnt  +downstreamnt
atgctgtttctggcgttgggcagcccgtgggcggtcgaactgcctctctgcggaaggagg
actgcattgtgtgcggccgccgcgctccgaggtccccgggcctctgtctcccgggcgtcc
tccagcagcgggccttcggggccggtagccggctggagtacggggccttcgggagccgcg
cgccttctccggcgtccgggtcgagcgcagatccctgtttattgggaaggatatgttcga
ttcttaaatacgccatctgacaaatcagaagatggaaggctaatttatactggcaatatg
gcccgagcagtgtttggtgtgaaatgtttctcttattctacgagtctgattggccttaca
tttctgccatacatttttacacaaaataatgctatttctgaaagtgtgcctctgcctatt
caaatcatattctatggcatcatgggaagctttacggtgatcaccccagtgctgcttcac
tttattacaaaaggctatgtcattcgattgtaccatgaggccacaacagacacttataaa
gccattacctacaatgctatgcttgcagaaacgagtacagtgtttcaccagaatgatgtg
aagattccagatgctaaacatgtatttaccacattttatgctaaaacaaaatcactgtta
gttaatccagtgctctttccaaaccgtgaagactatatccatctaatgggttatgacaaa
gaagaatttattttgtatatggaagaaaccagtgaagagaaacggcataaagatgacaaa
tga

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