| Type | Description |
|---|---|
| Definition | galactokinase 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-10-19 12:12:00 | Molecular docking analysis revealed a decrease in interaction between the protein and ATP in all the 3 mutations (P28T, A198V, and L139P), and molecular dynamic simulations of 50 ns showed a loss of stability and compactness in the mutant proteins. Also P28T and A198V were predicted to alter the structure and function of GALK protein when compared to the mutant L139P. | 29893426 |
| 2019-07-20 10:16:00 | Some of the single consensus variants (M60V, D268E, A334S and G373S) increased the catalytic turnover of the enzyme, but none resulted in improved stability. When all six changes were introduced into the protein (M60V/M180V/D268E/A334S/R366Q/G373S), thermal stability was increased. | 29505688 |
| 2019-04-20 11:18:00 | Focussing on four residues (Leu-231, Gln-242, Glu-244 and Glu-245) this study conducted molecular dynamics simulations to explore the effects of changing these residues to glycine or serine. The four serine variants were expressed as recombinant proteins. All had altered steady state enzyme kinetic parameters with alpha-d-galactose as a substrate. | 30253338 |
| 2018-04-28 10:36:00 | Mutation in the GALK gene is associated with mental disorders in galactosemia. | 28672748 |
| 2014-04-19 11:48:00 | The GALK1 gene was included in this interval and direct sequencing. | 24211322 |
| Type | IDs |
|---|---|
| Synonymous | GALK, GK1, HEL-S-19 |
| Gene |
UniProtKB-ID:
GALK1_HUMAN,
V9HWE7_HUMAN
UniprotKB:
P51570,
V9HWE7
UniParc:
UPI0000EE5CE0,
UPI000012B056
EMBL:
L76927,
U26401,
AK314890,
CH471099,
AK303832,
AC087749,
BT007005,
EU794610,
BC001166
Ensembl:
ENSG00000108479
KO:
hsa:2584
|
| Nucleutide sequences |
EMBL-CDS:
AAH01166.1,
BAG37404.1,
AAP35651.1,
EAW89316.1,
BAG64778.1,
AAB51607.1,
AAA96147.1,
ACJ13664.1
Ensembl_TRS:
ENST00000588479,
ENST00000225614
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000465930,
ENSP00000225614
RefSeq:
NP_001368914.1,
NP_000145.1
|
| Others |
UniRef100:
UniRef100_P51570
UniRef90:
UniRef90_P51570
UniRef50:
UniRef50_P51570
UniGene:
Hs.407966
CCDS:
CCDS11728.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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