| Type | Description |
|---|---|
| Definition | UDP-galactose-4-epimerase |
| Date | Results | Publications |
|---|---|---|
| 2020-09-19 16:29:00 | Human UDP-galactose 4'-epimerase (GALE) is required for cell-surface glycome structure and function. | 31819007 |
| 2020-05-02 10:19:00 | High GALE expression is associated with differentiation Grade of Gastric Cancer. | 31827638 |
| 2019-06-15 11:02:00 | we have identified GALE p.R51W, a homozygous mutation in an extended kindred including multiple individuals presenting with severe thrombocytopenia and intracranial bleeding. GALE p.R51W has reduced enzymatic activity and is thermally unstable. | 30247636 |
| 2016-12-17 10:59:00 | Mutation in UDP-galactose-4'-epimerase gene is associated with UDP-galactose-4'-epimerase deficiency. | 26565537 |
| 2016-07-02 10:44:00 | Data show the protein structure of GALE and its substrate binding and specificity. It is mutated in type III galactosemia. [review] | 26162744 |
| Type | IDs |
|---|---|
| Synonymous | SDR1E1 |
| Gene |
UniProtKB-ID:
GALE_HUMAN,
A0A384NL38_HUMAN
UniprotKB:
Q14376,
A0A384NL38
UniParc:
UPI000011133A,
UPI000013F4D8
EMBL:
BC050685,
AK057302,
DQ233667,
CH471134,
L41668,
BC001273,
AL031295,
GQ900906,
AK314397,
DQ233668,
AF022382
Ensembl:
ENSG00000117308
KO:
hsa:2582
|
| Nucleutide sequences |
EMBL-CDS:
ABB04110.1,
EAW95083.1,
AAC39645.1,
BAG37021.1,
BAG51901.1,
AAH50685.2,
EAW95084.1,
AAH01273.1,
EAW95086.1,
EAW95093.1,
EAW95092.1,
AAB86498.1,
ABB04109.1,
EAW95090.1,
EAW95091.1,
ADO22423.1
Ensembl_TRS:
ENST00000374497,
ENST00000617979
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000483375,
ENSP00000363621
RefSeq:
NP_000394.2,
NP_001121093.1,
NP_001008217.1
|
| Others |
UniRef100:
UniRef100_Q14376
UniRef90:
UniRef90_Q14376
UniRef50:
UniRef50_Q14376
UniGene:
Hs.632380
CCDS:
CCDS242.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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