| Type | Description |
|---|---|
| Definition | elongation factor like GTPase 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-09 13:18:00 | Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations. | 30198570 |
| 2020-01-18 11:30:00 | we report biallelic mutations in EFL1 in 3 unrelated individuals with clinical features of SDS. Cellular defects in these individuals include impaired ribosomal subunit joining and attenuated global protein translation as a consequence of defective eIF6 eviction. | 31151987 |
| 2019-03-30 11:48:00 | the effect of SBDS mutations on the interaction with EFL1were tested, and showed that all tested mutations disrupted the binding to EFL1. | 30545121 |
| 2018-04-07 10:18:00 | Mutations in EFL1 clinically manifest phenotypes of infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies. Mutant EFL1 proteins do not promote the release of yeast cytoplasmic Tif6 from the 60S subunit, likely preventing the formation of mature ribosomes. | 28331068 |
| 2017-05-08 14:16:00 | Association of Elongation Factor-like 1 (EFL1) GTPase to SBDS did not modify the affinity for GTP but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide. | 25991726 |
| Type | IDs |
|---|---|
| Synonymous | EFTUD1, FAM42A, HsT19294, RIA1, SDS2 |
| Gene |
UniProtKB-ID:
EFL1_HUMAN
UniprotKB:
Q7Z2Z2
UniParc:
UPI00001FEA35,
UPI00001FEA3A
EMBL:
AC026624,
AK023181,
BX538332,
AC026956,
AK300348
Ensembl:
ENSG00000140598
KO:
hsa:79631
|
| Nucleutide sequences |
EMBL-CDS:
CAD98101.1,
BAH13266.1,
BAB14450.1
Ensembl_TRS:
ENST00000359445,
ENST00000268206
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000352418,
ENSP00000268206
RefSeq:
NP_001309774.1,
NP_078856.4,
XP_024305816.1,
NP_001035700.1,
XP_011520302.1,
NP_001309773.1
|
| Others |
UniRef100:
UniRef100_Q7Z2Z2
UniRef90:
UniRef90_Q7Z2Z2
UniRef50:
UniRef50_Q7Z2Z2
UniGene:
Hs.459114
CCDS:
CCDS42071.1,
CCDS42070.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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