Reactome | EPM2A F84L [cytosol]

EPM2A F84L [cytosol]

Stable Identifier

R-HSA-3791363

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Laforin F84L

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Disease (Homo sapiens)

- Diseases of metabolism (Homo sapiens)
  - Diseases of carbohydrate metabolism (Homo sapiens)
    - Glycogen storage diseases (Homo sapiens)
      - Myoclonic epilepsy of Lafora (Homo sapiens)
        
        Defective EPM2A does not dephosphorylate phosphoglycogen (type 2A disease) (Homo sapiens)
        
        mutant EPM2A:PPP1R3C:phosphoglycogen-GYG1:GYS1-a tetramer [cytosol] (Homo sapiens)
        
        EPM2A mutant dimer [cytosol] (Homo sapiens)
        
        EPM2A mutants [cytosol] (Homo sapiens)
        
        EPM2A F84L [cytosol] (Homo sapiens)

External Reference Information

External Reference

UniProt:O95278 EPM2A

Gene Names

EPM2A

Chain

chain:1-331

Reference Genes

BioGPS Gene:7957 O952786

COSMIC (genes):EPM2A EPM2A

CTD Gene:7957 O952786

dbSNP Gene:7957 O952786

ENSEMBL:ENSG00000112425 EPM2A

HGNC:3413 O952786

KEGG:hsa:7957 O952786

Monarch:7957 O952786

NCBI Gene:7957 O952786

OMIM:607566 O952786

UCSC:O95278 O952786

Reference Transcript

Participates

as a member of

EPM2A mutants [cytosol] (Homo sapiens)

Other forms of this molecule

EPM2A [cytosol]

K48polyUb-EPM2A [cytosol]

EPM2A P301L [cytosol]

EPM2A T194I [cytosol]

Modified Residues

Name

L-phenylalanine 84 replaced with L-leucine

Coordinate

PsiMod

L-leucine residue [MOD:00020]

A protein modification that effectively converts a source amino acid residue to an L-leucine.

L-phenylalanine removal [MOD:01644]

A protein modification that effectively removes or replaces an L-phenylalanine.

Disease

Name	Identifier	Synonyms
glycogen storage disease	DOID:2747	glycogenosis

Cross References

OpenTargets

ENSG00000112425

ENSEMBL

ENST00000435470, ENST00000638778, ENSG00000112425, ENST00000639423, ENST00000639465, ENSP00000491180, ENSP00000491353, ENST00000367519, ENST00000638783, ENSP00000405913, ENST00000611340, ENSP00000480268, ENST00000638262, ENSP00000491338, ENSP00000492701, ENSP00000492876, ENSP00000356489

HPA

ENSG00000112425-EPM2A

GeneCards

EPM2A

ZINC - Substances

EPM2A_HUMAN

ZINC target

O95278

PRO

O95278

Pharos - Targets

O95278

Orphanet

EPM2A

PDB

4R30, 4RKK

HMDB Protein

HMDBP01891

Interactors (3)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q6VVB1 NHLRC1	3	NHLRC1 F33S [cytosol] (R-HSA-3797218) NHLRC1 C26S [cytosol] (R-HSA-3797231) NHLRC1 [cytosol] (R-HSA-3781020)	0.786	8
UniProt:Q9UQK1 PPP1R3C	2	K48polyUb-PPP1R3C [cytosol] (R-HSA-3781005) PPP1R3C [cytosol] (R-HSA-3777102)	0.567	5
UniProt:O95210 STBD1	3	STBD1 [ficolin-1-rich granule membrane] (R-HSA-6801519) STBD1 [plasma membrane] (R-HSA-6801561) STBD1 [tertiary granule membrane] (R-HSA-6801484)	0.527	3

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