| Type | Description |
|---|---|
| Definition | elongator complex protein 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-09 13:47:00 | Tumours from patients with ELP1-associated medulloblastoma subgroup Sonic Hedgehog were characterized by a destabilized Elongator complex, loss of Elongator-dependent tRNA modifications, codon-dependent translational reprogramming | 32296180 |
| 2020-04-04 11:43:00 | A secondary assay that measures ELP1 splicing in FD patient-derived fibroblasts. | 30085848 |
| 2020-02-08 12:24:00 | postnatal correction of the underlying ELP1 splicing defect can rescue devastating disease phenotypes in a humanized ELP1 mouse model | 30905397 |
| 2019-11-09 10:25:00 | The authors identified two potentially functional single nucleotide polymorphisms (IKBKAP rs4978754 C > T and TNFRSF1B rs677844 T > C) to be associated with survival of patients with non-small cell lung cancer. | 30989732 |
| 2019-08-31 12:35:00 | Data indicate that heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) is a negative regulator of IKK-complex-associated protein (IKBKAP) exon 20 splicing. | 29762696 |
| Type | IDs |
|---|---|
| Synonymous | DYS, FD, IKAP, IKBKAP, IKI3, TOT1 |
| Gene |
UniProtKB-ID:
ELP1_HUMAN,
F5H2T0_HUMAN,
B3KNB2_HUMAN,
Q8N516_HUMAN,
B4E3I9_HUMAN,
Q4LE38_HUMAN
UniprotKB:
O95163,
F5H2T0,
B3KNB2,
Q8N516,
B4E3I9,
Q4LE38
UniParc:
UPI000054C92F,
UPI0001EE2EEF,
UPI000006DB95,
UPI000015F6F0,
UPI000013D2D0,
UPI00017A8702
EMBL:
AL354797,
AF044195,
AL359692,
AB210033,
AK289962,
AF153419,
AL049945,
AK304742,
AK001641,
AK024223,
CH471105,
BC033094
Ensembl:
ENSG00000070061
KO:
hsa:8518
|
| Nucleutide sequences |
EMBL-CDS:
AAG43369.1,
CAB43219.1,
BAG50955.1,
AAC64258.1,
BAF82651.1,
EAW59027.1,
BAG51274.1,
AAH33094.1,
BAG65501.1,
BAE06115.1
Ensembl_TRS:
ENST00000374647,
ENST00000537196
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000363779,
ENSP00000439367
RefSeq:
NP_001317678.1,
XP_011517438.1,
XP_011517439.1,
NP_003631.2,
NP_001305289.1
|
| Others |
UniRef100:
UniRef100_O95163,
UniRef100_B4E3I9,
UniRef100_Q8N516
UniRef90:
UniRef90_O95163
UniRef50:
UniRef50_O95163
UniGene:
Hs.494738
CCDS:
CCDS6773.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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