Homo sapiens (human): 54968
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Entry
54968 CDS
T01001
Symbol
TMEM70, MC5DN2
Name
(RefSeq) transmembrane protein 70
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)
Mitochondrial biogenesis [BR:
hsa03029
]
Mitochondrial quality control factors
Mitochondrial respiratory chain complex assembly factors
Complex-V assembly factors
54968 (TMEM70)
BRITE hierarchy
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Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
TMEM70
Motif
Other DBs
NCBI-GeneID:
54968
NCBI-ProteinID:
NP_060336
OMIM:
612418
HGNC:
26050
Ensembl:
ENSG00000175606
UniProt:
Q9BUB7
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All DBs
Position
8:73976195..73982783
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AA seq
260 aa
AA seq
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MLFLALGSPWAVELPLCGRRTALCAAAALRGPRASVSRASSSSGPSGPVAGWSTGPSGAA
RLLRRPGRAQIPVYWEGYVRFLNTPSDKSEDGRLIYTGNMARAVFGVKCFSYSTSLIGLT
FLPYIFTQNNAISESVPLPIQIIFYGIMGSFTVITPVLLHFITKGYVIRLYHEATTDTYK
AITYNAMLAETSTVFHQNDVKIPDAKHVFTTFYAKTKSLLVNPVLFPNREDYIHLMGYDK
EEFILYMEETSEEKRHKDDK
NT seq
783 nt
NT seq
+upstream
nt +downstream
nt
atgctgtttctggcgttgggcagcccgtgggcggtcgaactgcctctctgcggaaggagg
actgcattgtgtgcggccgccgcgctccgaggtccccgggcctctgtctcccgggcgtcc
tccagcagcgggccttcggggccggtagccggctggagtacggggccttcgggagccgcg
cgccttctccggcgtccgggtcgagcgcagatccctgtttattgggaaggatatgttcga
ttcttaaatacgccatctgacaaatcagaagatggaaggctaatttatactggcaatatg
gcccgagcagtgtttggtgtgaaatgtttctcttattctacgagtctgattggccttaca
tttctgccatacatttttacacaaaataatgctatttctgaaagtgtgcctctgcctatt
caaatcatattctatggcatcatgggaagctttacggtgatcaccccagtgctgcttcac
tttattacaaaaggctatgtcattcgattgtaccatgaggccacaacagacacttataaa
gccattacctacaatgctatgcttgcagaaacgagtacagtgtttcaccagaatgatgtg
aagattccagatgctaaacatgtatttaccacattttatgctaaaacaaaatcactgtta
gttaatccagtgctctttccaaaccgtgaagactatatccatctaatgggttatgacaaa
gaagaatttattttgtatatggaagaaaccagtgaagagaaacggcataaagatgacaaa
tga
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