| Type | Description |
|---|---|
| Definition | transmembrane protein 126B |
| Date | Results | Publications |
|---|---|---|
| 2018-11-03 10:21:00 | Data show that attenuating a functional complex I assembly appears critical for cellular adaptation towards chronic hypoxia and is linked to destruction of the mitochondrial assembly factor transmembrane protein 126B (TMEM126B). | 29464284 |
| 2017-05-20 14:54:00 | results show that TMEM126B defects can lead to complex I deficiencies and, interestingly, that symptoms can occur only after exercise | 27374773 |
| 2017-05-20 14:54:00 | functional experimentation including viral rescue and complexome profiling of subject cell lines has confirmed TMEM126B as the tenth complex I assembly factor associated with human disease and validates the importance of both genome-wide sequencing and proteomic approaches in characterizing disease-associated genes whose physiological roles have been previously undetermined | 27374774 |
| Type | IDs |
|---|---|
| Synonymous | HT007, MC1DN29 |
| Gene |
UniProtKB-ID:
T126B_HUMAN,
A0A024R5L4_HUMAN
UniprotKB:
Q8IUX1,
A0A024R5L4
UniParc:
UPI00003D5F21,
UPI000006CCC5,
UPI000007087D,
UPI0000F3BE6B,
UPI0000035F66
EMBL:
AP000642,
AF220193,
CR612738,
AK291150,
BC107900,
CH471076,
BC012065,
BC017574,
BC038933
Ensembl:
ENSG00000171204
KO:
hsa:55863
|
| Nucleutide sequences |
EMBL-CDS:
EAW75098.1,
AAI07901.1,
AAH38933.1,
AAF67658.1,
AAH17574.1,
BAF83839.1,
AAH12065.1,
EAW75101.1
Gene_ORFName:
HT007,
hCG_1640970
Ensembl_TRS:
ENST00000393375,
ENST00000358867,
ENST00000534341
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000377039,
ENSP00000351737,
ENSP00000433471
RefSeq:
NP_001337322.1,
NP_001337325.1,
NP_001243475.1,
XP_011543467.1,
NP_001243476.1,
NP_001180467.1,
NP_001180466.1,
NP_001337324.1,
NP_060950.3,
NP_001337323.1
|
| Others |
UniRef100:
UniRef100_Q8IUX1
UniRef90:
UniRef90_Q8IUX1
UniRef50:
UniRef50_Q8IUX1
UniGene:
Hs.525063
CCDS:
CCDS53686.1,
CCDS8267.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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