| Tag | Content |
|---|
| EKPD ID | EPS-HOS-00013 |
| Classification | | Group/Family | Score | E-Value | Start | End | Domain Length |
|---|
| DSP/aDSP | 71.3 | 3.7E-19 | 158 | 310 | 153 |
|
| Status | Reviewed |
| Ensembl Protein | ENSP00000356489 |
| UniProt Accession | O95278; B3KMU5; B4DRZ2; O95483; Q5T3F5; Q6IS15; Q8IU96; Q8IX24; Q8IX25; Q9BS66; Q9UEN2; |
| Protein Name | Laforin |
| Protein Synonyms/Alias | Lafora PTPase; LAFPTPase; |
| Gene Name | EPM2A |
| Gene Synonyms/Alias | EPM2A; |
| Ensembl Information | |
| Organism | Homo sapiens |
| Functional Description | Dual specificity protein phosphatase. May be involved inthe 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. |
| Protein Length | 331 |
Protein Sequence
(FASTA) | | MRFRFGVVVP PAVAGARPEL LVVGSRPELG RWEPRGAVRL RPAGTAAGDG ALALQEPGLW 60 | | LGEVELAAEE AAQDGAEPGR VDTFWYKFLK REPGGELSWE GNGPHHDRCC TYNENNLVDG 120 | | VYCLPIGHWI EATGHTNEMK HTTDFYFNIA GHQAMHYSRI LPNIWLGSCP RQVEHVTIKL 180 | | KHELGITAVM NFQTEWDIVQ NSSGCNRYPE PMTPDTMIKL YREEGLAYIW MPTPDMSTEG 240 | | RVQMLPQAVC LLHALLEKGH IVYVHCNAGV GRSTAAVCGW LQYVMGWNLR KVQYFLMAKR 300 | | PAVYIDEEAL ARAQEDFFQK FGKVRSSVCS L 331 |
|
Nucleotide Sequence
(FASTA) | | ATGCGCTTCC GCTTTGGGGT GGTGGTGCCA CCCGCCGTGG CCGGCGCCCG GCCGGAGCTG 60 | | CTGGTGGTGG GGTCGCGGCC CGAGCTGGGG CGTTGGGAGC CGCGCGGTGC CGTCCGCCTG 120 | | AGGCCGGCCG GCACCGCGGC GGGCGACGGG GCCCTGGCCC TGCAGGAGCC GGGCCTGTGG 180 | | CTCGGGGAGG TGGAGCTGGC GGCCGAGGAG GCGGCGCAGG ACGGGGCGGA GCCGGGCCGC 240 | | GTGGACACGT TCTGGTACAA GTTCCTGAAG CGGGAGCCGG GAGGAGAGCT CTCCTGGGAA 300 | | GGCAATGGAC CTCATCATGA CCGTTGCTGT ACTTACAATG AAAACAACTT GGTGGATGGT 360 | | GTGTATTGTC TCCCAATAGG ACACTGGATT GAGGCCACTG GGCACACCAA TGAAATGAAG 420 | | CACACAACAG ACTTCTATTT TAATATTGCA GGCCACCAAG CCATGCATTA TTCAAGAATT 480 | | CTACCAAATA TCTGGCTGGG TAGCTGCCCT CGTCAGGTGG AACATGTAAC CATCAAACTG 540 | | AAGCATGAAT TGGGGATTAC AGCTGTAATG AATTTCCAGA CTGAATGGGA TATTGTACAG 600 | | AATTCCTCAG GCTGTAACCG CTACCCAGAG CCCATGACTC CAGACACTAT GATTAAACTA 660 | | TATAGGGAAG AAGGCTTGGC CTACATCTGG ATGCCAACAC CAGATATGAG CACCGAAGGC 720 | | CGAGTACAGA TGCTGCCCCA GGCGGTGTGC CTGCTGCATG CGCTGCTGGA GAAGGGACAC 780 | | ATCGTGTACG TGCACTGCAA CGCTGGGGTG GGCCGCTCCA CCGCGGCTGT CTGCGGCTGG 840 | | CTCCAGTATG TGATGGGCTG GAATCTGAGG AAGGTGCAGT ATTTCCTCAT GGCCAAGAGG 900 | | CCGGCTGTCT ACATTGACGA AGAGGCCTTG GCCCGGGCAC AAGAAGATTT TTTCCAGAAA 960 | | TTTGGGAAGG TTCGTTCTTC TGTGTGTAGC CTGTAG 996 |
|
| Domain Profile | S: 3 teilpglylgdqataldrreLs...klgitvvinaslsvikvq...........viPe.. 46 | ++ilp+++lg+ +++++++ +lgit v+n ++ vq +P+ | Q: 158 SRILPNIWLGSCPRQVEHVTIKlkhELGITAVMNFQTEWDIVQnssgcnrypepMTPDtm 217 | 799********9999999887432367999999976654333311111111222356522 |
| S: 47 ..ylikkgityknipvdDsdvtdllqyfdeaaefideakekggkvlvHCaaGvsRSatlv 104 | +++++g y +p D ++ +q++++a+++++ ekg+ v+vHC+aGv+RS++ v | Q: 218 ikLYREEGLAYIWMPTPDMSTEGRVQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAAV 277 | 22466799**************************************************** |
| S: 105 laYLmkveglslsdAieavkrkrpsiepnegfl 137 | +++L +v+g++l+++ +++krp+++ +e+ l | Q: 278 CGWLQYVMGWNLRKVQYFLMAKRPAVYIDEEAL 310 | ****************************99976 |
|
Domain Sequence
(FASTA) | | SRILPNIWLG SCPRQVEHVT IKLKHELGIT AVMNFQTEWD IVQNSSGCNR YPEPMTPDTM 60 | | IKLYREEGLA YIWMPTPDMS TEGRVQMLPQ AVCLLHALLE KGHIVYVHCN AGVGRSTAAV 120 | | CGWLQYVMGW NLRKVQYFLM AKRPAVYIDE EAL 153 |
|
| Keyword | Alternative initiation; Alternative splicing; Carbohydrate metabolism; Cell membrane; Complete proteome; Cytoplasm; Disease mutation; Endoplasmic reticulum; Epilepsy; Glycogen metabolism; Hydrolase; Membrane; Nucleus; Phosphoprotein; Polymorphism; Protein phosphatase; Reference proteome; Ubl conjugation. |
| Sequence Source | Ensembl |
| Orthology | |
| Gene Ontology | |
| KEGG | |
| InterPros | |
| Pfam | |
| SMARTs | |
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| Prints | |
| Created Date | 20-Feb-2013 |