KEGG   Homo sapiens (human): 55863
Entry
55863             CDS       T01001                                 
Symbol
TMEM126B, HT007, MC1DN29
Name
(RefSeq) transmembrane protein 126B
  KO
K18165  complex I assembly factor TMEM126B
Organism
hsa  Homo sapiens (human)
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    55863 (TMEM126B)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-I assembly factors
    55863 (TMEM126B)
SSDB
Motif
Pfam: TMEM126
Other DBs
NCBI-GeneID: 55863
NCBI-ProteinID: NP_060950
OMIM: 615533
HGNC: 30883
Ensembl: ENSG00000171204
UniProt: Q8IUX1
LinkDB
Position
11:85628573..85636540
AA seq 230 aa
MVVFGYEAGTKPRDSGVVPVGTEEAPKVFKMAASMHGQPSPSLEDAKLRRPMVIEIIEKN
FDYLRKEMTQNIYQMATFGTTAGFSGIFSNFLFRRCFKVKHDALKTYASLATLPFLSTVV
TDKLFVIDALYSDNISKENCVFRSSLIGIVCGVFYPSSLAFTKNGRLATKYHTVPLPPKG
RVLIHWMTLCQTQMKLMAIPLVFQIMFGILNGLYHYAVFEETLEKTIHEE
NT seq 693 nt   +upstreamnt  +downstreamnt
atggtggtgttcgggtatgaggctgggactaagccaagggattcaggtgtggtgccggtg
ggaactgaggaagcgcccaaggttttcaagatggcagcatctatgcatggtcagcccagt
ccttctctagaagatgcaaaactcagaagaccaatggtcatagaaatcatagaaaaaaat
tttgactatcttagaaaagaaatgacacaaaatatatatcaaatggcgacatttggaaca
acagctggtttctctggaatattctcaaacttcctgttcagacgctgcttcaaggttaaa
catgatgctttgaagacatatgcatcattggctacacttccatttttgtctactgttgtt
actgacaagctttttgtaattgatgctttgtattcagataatataagcaaggaaaactgt
gttttcagaagctcactgattggcatagtttgtggtgttttctatcccagttctttggct
tttactaaaaatggacgcctggcaaccaagtatcataccgttccactgccaccaaaagga
agggttttaatccattggatgacgctttgtcaaacacaaatgaaattaatggcgattcct
ctagtctttcagattatgtttggaatattaaatggtctataccattatgcagtatttgaa
gagacacttgagaaaactatacatgaagagtaa

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