| Identification |
|---|
| HMDB Protein ID
| CDBP01665 |
| Secondary Accession Numbers
| Not Available |
| Name
| Laforin |
| Description
| Not Available |
| Synonyms
|
- LAFPTPase
- Lafora PTPase
|
| Gene Name
| EPM2A |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in carbohydrate binding |
| Specific Function
| Dual specificity protein phosphatase. May be involved in the control of glycogen metabolism, particularly in monitoring for and preventing the formation of poorly branched glycogen molecules (polyglucosans). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin. Forms a complex with NHLRC1/malin and HSP70 and this complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Isoform 2, an inactive phosphatase, could function as a dominant-negative regulator for the phosphatase activity of isoform 1.
|
| GO Classification
|
| Biological Process |
| glycogen metabolic process |
| nervous system development |
| behavior |
| Cellular Component |
| plasma membrane |
| nucleus |
| polysome |
| cytosol |
| endoplasmic reticulum |
| Function |
| phosphoprotein phosphatase activity |
| protein tyrosine phosphatase activity |
| hydrolase activity, acting on ester bonds |
| binding |
| catalytic activity |
| hydrolase activity |
| phosphoric ester hydrolase activity |
| phosphatase activity |
| protein tyrosine/serine/threonine phosphatase activity |
| carbohydrate binding |
| Molecular Function |
| protein tyrosine phosphatase activity |
| protein tyrosine/serine/threonine phosphatase activity |
| protein serine/threonine phosphatase activity |
| starch binding |
| Process |
| phosphorus metabolic process |
| phosphate metabolic process |
| dephosphorylation |
| protein amino acid dephosphorylation |
| metabolic process |
| primary metabolic process |
| carbohydrate metabolic process |
| cellular metabolic process |
|
| Cellular Location
|
- Cell membrane
- Nucleus
- Isoform 2:Endoplasmic reticulum
|
| Pathways
|
Not Available
|
| Gene Properties |
|---|
| Chromosome Location
| 6 |
| Locus
| 6q24 |
| SNPs
| EPM2A |
| Gene Sequence
|
>996 bp
ATGCGCTTCCGCTTTGGGGTGGTGGTGCCACCCGCCGTGGCCGGCGCCCGGCCGGAGCTG
CTGGTGGTGGGGTCGCGGCCCGAGCTGGGGCGTTGGGAGCCGCGCGGTGCCGTCCGCCTG
AGGCCGGCCGGCACCGCGGCGGGCGACGGGGCCCTGGCGCTGCAGGAGCCGGGCCTGTGG
CTCGGGGAGGTGGAGCTGGCGGCCGAGGAGGCGGCGCAGGACGGGGCGGAGCCGGGCCGC
GTGGACACGTTCTGGTACAAGTTCCTGAAGCGGGAGCCGGGAGGAGAGCTCTCCTGGGAA
GGCAATGGACCTCATCATGACCGTTGCTGTACTTACAATGAAAACAACTTGGTGGATGGT
GTGTATTGTCTCCCAATAGGACACTGGATTGAGGCCACTGGGCACACCAATGAAATGAAG
CACACAACAGACTTCTATTTTAATATTGCAGGCCACCAAGCCATGCATTATTCAAGAATT
CTACCAAATATCTGGCTGGGTAGCTGCCCTCGTCAGGTGGAACATGTAACCATCAAACTG
AAGCATGAATTGGGGATTACAGCTGTAATGAATTTCCAGACTGAATGGGATATTGTACAG
AATTCCTCAGGCTGTAACCGCTACCCAGAGCCCATGACTCCAGACACTATGATTAAACTA
TATAGGGAAGAAGGCTTGGCCTACATCTGGATGCCAACACCAGATATGAGCACCGAAGGC
CGAGTACAGATGCTGCCCCAGGCGGTGTGCCTGCTGCATGCGCTGCTGGAGAAGGGACAC
ATCGTGTACGTGCACTGCAACGCTGGGGTGGGCCGCTCCACCGCGGCTGTCTGCGGCTGG
CTCCAGTATGTGATGGGCTGGAATCTGAGGAAGGTGCAGTATTTCCTCATGGCCAAGAGG
CCGGCTGTCTACATTGACGAAGAGGCCTTGGCCCGGGCACAAGAAGATTTTTTCCAGAAA
TTTGGGAAGGTTCGTTCTTCTGTGTGTAGCCTGTAG
|
| Protein Properties |
|---|
| Number of Residues
| 331 |
| Molecular Weight
| 35518.41 |
| Theoretical pI
| 6.265 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Laforin
MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAGTAAGDGALALQEPGLW
LGEVELAAEEAAQDGAEPGRVDTFWYKFLKREPGGELSWEGNGPHHDRCCTYNENNLVDG
VYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRILPNIWLGSCPRQVEHVTIKL
KHELGITAVMNFQTEWDIVQNSSGCNRYPEPMTPDTMIKLYREEGLAYIWMPTPDMSTEG
RVQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAAVCGWLQYVMGWNLRKVQYFLMAKR
PAVYIDEEALARAQEDFFQKFGKVRSSVCSL
|
| External Links |
|---|
| GenBank ID Protein
| 6005986 |
| UniProtKB/Swiss-Prot ID
| O95278 |
| UniProtKB/Swiss-Prot Entry Name
| EPM2A_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| AF084535 |
| GeneCard ID
| EPM2A |
| GenAtlas ID
| EPM2A |
| HGNC ID
| HGNC:3413 |
| References |
|---|
| General References
| Not Available |