EPM2A EPM2A glucan phosphatase, laforin [Macaca mulatta (Rhesus monkey)] - Gene

Summary

Gene symbol: EPM2A
Gene description: EPM2A glucan phosphatase, laforin
See related: Ensembl:ENSMMUG00000045569
Gene type: protein coding
RefSeq status: MODEL
Organism: Macaca mulatta
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Cercopithecidae; Cercopithecinae; Macaca
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 4

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
103	current	Mmul_10 (GCF_003339765.1)	4	NC_041757.1 (51397768..51520118, complement)
102	previous assembly	Mmul_8.0.1 (GCF_000772875.2)	4	NC_027896.1 (121190713..121313179)

Chromosome 4 - NC_041757.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Markers

SHGC-132306 (e-PCR)
- UniSTS:170771

RH122690 (e-PCR)
- UniSTS:133968

SHGC-144778 (e-PCR)
- UniSTS:172413

136C6sp6 (e-PCR)
- UniSTS:509918

D6S1703 (e-PCR), detects polymorphism
- UniSTS:74211

Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables carbohydrate phosphatase activity	IEA Inferred from Electronic Annotation more info	PubMed
enables protein tyrosine phosphatase activity	IEA Inferred from Electronic Annotation more info	PubMed
enables protein tyrosine/serine/threonine phosphatase activity	IEA Inferred from Electronic Annotation more info	PubMed
enables starch binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in protein dephosphorylation	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: laforin

Names: EPM2A, laforin glucan phosphatase; epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

XP_001087462.1

EC 3.1.3.16

EC 3.1.3.48

XP_028703021.1

EC 3.1.3.16

EC 3.1.3.48

XP_028703022.1

EC 3.1.3.16

EC 3.1.3.48

XP_028703024.1

EC 3.1.3.16

EC 3.1.3.48

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Macaca mulatta Annotation Release 103 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference Mmul_10 Primary Assembly

Genomic

NC_041757.1 Reference Mmul_10 Primary Assembly

Range

51397768..51520118 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_001087462.4 → XP_001087462.1 laforin isoform X1

See identical proteins and their annotated locations for XP_001087462.1

UniProtKB/TrEMBL

A0A5F7ZHX3, H9F553

Related

ENSMMUP00000065219.1, ENSMMUT00000081836.1

Conserved Domains (2) summary

cd05806
Location:1 → 129

CBM20_laforin; Laforin protein tyrosine phosphatase, N-terminal CBM20 (carbohydrate-binding module, family 20) domain. Laforin, encoded by the EPM2A gene, is a dual-specificity phosphatase that dephosphorylates complex carbohydrates. Mutations in the gene encoding ...

cl21483
Location:158 → 304

PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
XM_028847189.1 → XP_028703022.1 laforin isoform X3

UniProtKB/TrEMBL

A0A1D5QSJ5, G7MQ69

Related

ENSMMUP00000051023.2, ENSMMUT00000054494.2

Conserved Domains (1) summary

cd14526
Location:17 → 174

DSP_laforin-like; dual specificity phosphatase domain of laforin and similar domains
XM_028847188.1 → XP_028703021.1 laforin isoform X2

UniProtKB/TrEMBL

G7MQ69

Conserved Domains (2) summary

cd14526
Location:64 → 221

DSP_laforin-like; dual specificity phosphatase domain of laforin and similar domains

cl15347
Location:11 → 38

CBM20; The family 20 carbohydrate-binding module (CBM20), also known as the starch-binding domain, is found in a large number of starch degrading enzymes including alpha-amylase, beta-amylase, glucoamylase, and CGTase (cyclodextrin glucanotransferase). CBM20 is ...
XM_028847191.1 → XP_028703024.1 laforin isoform X4

Conserved Domains (1) summary

cd05806
Location:1 → 129

CBM20_laforin; Laforin protein tyrosine phosphatase, N-terminal CBM20 (carbohydrate-binding module, family 20) domain. Laforin, encoded by the EPM2A gene, is a dual-specificity phosphatase that dephosphorylates complex carbohydrates. Mutations in the gene encoding ...