| Type | Description |
|---|---|
| Definition | EPM2A glucan phosphatase, laforin |
| Date | Results | Publications |
|---|---|---|
| 2020-04-25 10:10:00 | Laforin/malin complex interacts physically and co-localizes intracellularly with core components of the PI3KC3 complex (Beclin1, Vps34 and Vps15), and that this interaction is specific and results in the polyubiquitination of these proteins. | 31758957 |
| 2017-02-18 11:07:00 | rs702304 and rs2235481 within the EPM2A gene were associated with schizophrenia liability. | 27092952 |
| 2016-09-17 11:23:00 | Laforin prevents the auto-degradation of malin by presenting itself as a substrate. Malin preferentially degrades the phosphatase-inactive laforin monomer. | 26648032 |
| 2016-06-28 11:32:00 | Laforin-glycan interactions occur with a favourable enthalpic contribution counter-balanced by an unfavourable entropic contribution. | 26578817 |
| 2015-12-05 10:26:00 | laforin is responsible for glycogen dephosphorylation during exercise and acts during the cytosolic degradation of glycogen | 26216881 |
| Type | IDs |
|---|---|
| Synonymous | EPM2, MELF |
| Gene |
UniProtKB-ID:
EPM2A_HUMAN,
H0UI04_HUMAN
UniprotKB:
O95278,
H0UI04
UniParc:
UPI00003BF721,
UPI00001414C4,
UPI00003BF71F,
UPI00000747BB,
UPI00001414CE,
UPI00000706AA,
UPI000006E60E
EMBL:
AF454491,
AF454493,
AL023806,
AJ130763,
AF084535,
AF454492,
BC070047,
AJ130764,
AF284580,
AF454494,
AK299497,
AL365193,
BC005286,
AK022721,
CH471051
Ensembl:
ENSG00000112425
KO:
hsa:7957
|
| Nucleutide sequences |
EMBL-CDS:
AAH70047.1,
CAA10199.1,
AAO15526.1,
AAO15523.1,
AAH05286.1,
BAG51107.1,
CAA10200.1,
AAG18377.1,
AAO15524.1,
AAC83347.2,
EAW47844.1,
BAG61454.1,
AAO15525.1,
EAW47842.1,
EAW47843.1
Gene_ORFName:
hCG_18063
Ensembl_TRS:
ENST00000638783,
ENST00000638262,
ENST00000367519,
ENST00000611340,
ENST00000639423,
ENST00000650914,
ENST00000435470,
ENST00000639465,
ENST00000638778,
ENST00000618445
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000492876,
ENSP00000480268,
ENSP00000491180,
ENSP00000492701,
ENSP00000491338,
ENSP00000405913,
ENSP00000498790,
ENSP00000480339,
ENSP00000356489,
ENSP00000491353
RefSeq:
NP_001018051.1,
XP_016866790.1,
NP_005661.1,
NP_001355060.1,
XP_024302318.1,
XP_024302319.1,
NP_001355059.1,
NP_001346993.1,
NP_001347000.1,
XP_011534418.1,
XP_011534415.1,
NP_001355061.1,
XP_016866791.1,
NP_001355058.1,
NP_001346986.1
|
| Others |
UniRef100:
UniRef100_O95278
UniRef90:
UniRef90_O95278
UniRef50:
UniRef50_O95278
UniGene:
Hs.486696
CCDS:
CCDS5206.1,
CCDS87452.1,
CCDS87454.1,
CCDS87453.1
|
| {{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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