| Type | Description |
|---|---|
| Definition | treacle ribosome biogenesis factor 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:52:00 | POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. | 31649276 |
| 2020-04-18 11:45:00 | TOPBP1 recruitment is mediated by phosphorylation-dependent interactions between three of its BRCT domains and conserved phosphorylated Ser/Thr residues at the C-terminus of the nucleolar phosphoprotein Treacle. | 31913317 |
| 2019-10-19 11:08:00 | Acinar Progenitor Cell Model Identifies Treacle-Dependent Radioresistance | 31141469 |
| 2018-03-31 11:28:00 | Data indicate that Treacher Collins-Franceschetti syndrome 1 protein (TCOF1) was the main disease-causing gene for the Chinese Treacher Collins syndrome (TCS) population and its mutation spectrum. | 29230583 |
| 2018-02-24 11:52:00 | Performed mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. | 27526242 |
| Type | IDs |
|---|---|
| Synonymous | MFD1, TCS, TCS1, treacle |
| Gene |
UniProtKB-ID:
TCOF_HUMAN,
B4DRA2_HUMAN,
E7ETY2_HUMAN,
H0Y8Y7_HUMAN
UniprotKB:
Q13428,
B4DRA2,
E7ETY2,
H0Y8Y7
UniParc:
UPI0000073D77,
UPI0001818C55,
UPI0001D3B9CD,
UPI000045736E,
UPI0001DCAD2D,
UPI00004B247E,
UPI000020CF90,
UPI0000EE3736,
UPI0001818C56,
UPI00017A7B10,
UPI000387C452
EMBL:
U84646,
AK303611,
U76366,
U84648,
U84649,
U84658,
U79653,
BC011764,
U84652,
U84651,
BC027252,
U79646,
U84643,
U79658,
U84642,
U84664,
U84657,
U79655,
U84650,
U84647,
AY460334,
BC033093,
AC011372,
U79652,
U84645,
U84640,
U79647,
U84662,
U84655,
U79659,
U84644,
U84641,
U84659,
AK299167,
U84653,
U79654,
U84663,
U84654,
U79650,
U84656,
U84661,
U79656,
U79648,
U79649,
U84660,
BC016144,
U79645,
U40847,
BC014559,
U79651,
U79657
Ensembl:
ENSG00000070814
KO:
hsa:6949
|
| Nucleutide sequences |
EMBL-CDS:
AAB40722.1,
AAH11764.1,
AAR87774.1,
AAH14559.1,
AAC50903.1,
AAC51181.1,
AAH33093.1,
BAG64623.1,
AAC51185.1,
AAH27252.1,
AAH16144.1,
BAG61214.1
Ensembl_TRS:
ENST00000377797,
ENST00000643257,
ENST00000504761,
ENST00000427724,
ENST00000394269,
ENST00000445265,
ENST00000323668,
ENST00000439160,
ENST00000513346,
ENST00000513538
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000493815,
ENSP00000409944,
ENSP00000367028,
ENSP00000325223,
ENSP00000390717,
ENSP00000377811,
ENSP00000421655,
ENSP00000406888,
ENSP00000427484,
ENSP00000422567
RefSeq:
NP_001182070.1,
NP_000347.2,
XP_016865283.1,
XP_005268566.1,
XP_005268565.1,
XP_016865284.1,
XP_005268561.1,
XP_016865281.1,
XP_005268563.1,
NP_001008657.1,
XP_005268564.1,
XP_011535980.1,
XP_016865282.1,
XP_005268560.1,
XP_005268559.1,
NP_001128715.1,
NP_001128716.1,
NP_001358552.1,
NP_001128717.1
|
| Others |
UniRef100:
UniRef100_Q13428,
UniRef100_B4DRA2,
UniRef100_E7ETY2,
UniRef100_H0Y8Y7
UniRef90:
UniRef90_B4DRA2,
UniRef90_Q13428-5,
UniRef90_Q13428,
UniRef90_Q13428-4
UniRef50:
UniRef50_B4DRA2,
UniRef50_Q13428,
UniRef50_Q13428-4,
UniRef50_Q13428-5
UniGene:
Hs.519672,
Hs.605019
CCDS:
CCDS47307.1,
CCDS4306.1,
CCDS47306.1,
CCDS54936.1,
CCDS47305.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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