Property Summary

NCBI Gene PubMed Count 39
Grant Count 35
R01 Count 25
Funding $3,013,933.29
PubMed Score 97.82
PubTator Score 110.10

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
acute myeloid leukemia -1.200 0.022

Gene RIF (33)

PMID Text
26648032 Malin promotes its own degradation via auto-ubiquitination.Malin preferentially degrades the phosphatase-inactive laforin monomer.
26493215 laforin/malin complex is able to interact with and ubiquitinate both PKM1 and PKM2
26102034 Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway.
25270369 This study demonistrated that NHLRC1 mutations were detected in some case of Mild Lafora disease patients.
24068615 Without functional laforin-malin complex assembled on polyglucosan bodies, polyglucosan is not degraded.
23131811 Malin regulates the recruitment of mRNA-decapping enzyme 1A (Dcp1a) to processing bodies.
22815132 Malin forms a functional complex with laforin. This complex promotes the ubiquitination of proteins involved in glycogen metabolism and misregulation of pathways involved in this process results in Lafora body formation. (Review)
22223637 Our results indicate that malin regulates Wnt signaling pathway through the degradation of dishevelled2 and suggest possible deregulation of Wnt signaling in Lafora disease.
22047982 This study identified that NHLRC1 gene mutations leading to Lafora disease in six Turkish families.
21798009 Malin is related to TRIM32 at both the phylogenetic and functional level.
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AA Sequence

MAAEASESGPALHELMREAEISLLECKVCFEKFGHRQQRRPRNLSCGHVVCLACVAALAHPRTLALECPF      1 - 70
CRRACRGCDTSDCLPVLHLIELLGSALRQSPAAHRAAPSAPGALTCHHTFGGWGTLVNPTGLALCPKTGR     71 - 140
VVVVHDGRRRVKIFDSGGGCAHQFGEKGDAAQDIRYPVDVTITNDCHVVVTDAGDRSIKVFDFFGQIKLV    141 - 210
IGGQFSLPWGVETTPQNGIVVTDAEAGSLHLLDVDFAEGVLRRTERLQAHLCNPRGVAVSWLTGAIAVLE    211 - 280
HPLALGTGVCSTRVKVFSSSMQLVGQVDTFGLSLYFPSKITASAVTFDHQGNVIVADTSGPAILCLGKPE    281 - 350
EFPVPKPMVTHGLSHPVALTFTKENSLLVLDTASHSIKVYKVDWG                             351 - 395
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Text Mined References (40)

PMID Year Title
26648032 2015 Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease.
26493215 2015 The laforin/malin E3-ubiquitin ligase complex ubiquitinates pyruvate kinase M1/M2.
26102034 2015 Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway.
25270369 2014 Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
24068615 2014 Laforin-malin complex degrades polyglucosan bodies in concert with glycogen debranching enzyme and brain isoform glycogen phosphorylase.
23624058 2013 Glycogenic activity of R6, a protein phosphatase 1 regulatory subunit, is modulated by the laforin-malin complex.
23131811 2012 Lafora disease E3 ubiquitin ligase malin is recruited to the processing bodies and regulates the microRNA-mediated gene silencing process via the decapping enzyme Dcp1a.
22961547 2012 Early-onset Lafora body disease.
22815132 2012 Deciphering the role of malin in the lafora progressive myoclonus epilepsy.
22578008 2012 Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells.
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