EP2A2_HUMAN
ID EP2A2_HUMAN Reviewed; 344 AA.
AC B3EWF7;
DT 21-MAR-2012, integrated into UniProtKB/Swiss-Prot.
DT 21-MAR-2012, sequence version 1.
DT 25-MAY-2022, entry version 32.
DE RecName: Full=Laforin, isoform 9 {ECO:0000303|PubMed:22036712};
GN Name=EPM2A {ECO:0000303|PubMed:22036712};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [2] {ECO:0000305}
RP ALTERNATIVE SPLICING (ISOFORMS 4; 5; 6; 7 AND 9), INTERACTION WITH ISOFORMS
RP 1 AND 2, AND SUBCELLULAR LOCATION.
RX PubMed=22036712; DOI=10.1016/j.ygeno.2011.10.001;
RA Dubey D., Parihar R., Ganesh S.;
RT "Identification and characterization of novel splice variants of the human
RT EPM2A gene mutated in Lafora progressive myoclonus epilepsy.";
RL Genomics 99:36-43(2012).
CC -!- SUBUNIT: Interacts with isoform 1 and isoform 2.
CC {ECO:0000269|PubMed:22036712}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22036712}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing, Alternative initiation; Named isoforms=8;
CC Name=9 {ECO:0000269|PubMed:22036712}; Synonyms=POCR {ECO:0000305};
CC IsoId=B3EWF7-1; Sequence=Displayed;
CC Name=1 {ECO:0000305}; Synonyms=A {ECO:0000305}, LDH1 {ECO:0000305},
CC Laf331 {ECO:0000305};
CC IsoId=O95278-1; Sequence=External;
CC Name=2 {ECO:0000305}; Synonyms=B {ECO:0000305}, C-terISO {ECO:0000305},
CC Laf317 {ECO:0000305};
CC IsoId=O95278-2; Sequence=External;
CC Name=4 {ECO:0000269|PubMed:22036712}; Synonyms=Laf152 {ECO:0000305};
CC IsoId=O95278-4; Sequence=External;
CC Name=5 {ECO:0000269|PubMed:22036712}; Synonyms=Laf224 {ECO:0000305};
CC IsoId=O95278-5; Sequence=External;
CC Name=6 {ECO:0000269|PubMed:22036712}; Synonyms=Laf88 {ECO:0000305};
CC IsoId=O95278-6; Sequence=External;
CC Name=7 {ECO:0000269|PubMed:22036712}; Synonyms=Laf177 {ECO:0000305};
CC IsoId=O95278-7; Sequence=External;
CC Name=8 {ECO:0000305};
CC IsoId=O95278-8; Sequence=External;
CC -!- MISCELLANEOUS: [Isoform 9]: Produced by alternative initiation. Arises
CC due to the use of an alternative initiation codon in exon 1 out of
CC frame with isoform 1 and results in a completely different isoform.
CC {ECO:0000269|PubMed:22036712}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AL023806; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; B3EWF7; -.
DR IntAct; B3EWF7; 2.
DR BioMuta; EPM2A; -.
DR EPD; B3EWF7; -.
DR jPOST; B3EWF7; -.
DR PRIDE; B3EWF7; -.
DR ProteomicsDB; 3471; -. [B3EWF7-1]
DR GeneCards; EPM2A; -.
DR GeneReviews; EPM2A; -.
DR HGNC; HGNC:3413; EPM2A.
DR MalaCards; EPM2A; -.
DR neXtProt; NX_B3EWF7; -.
DR PathwayCommons; B3EWF7; -.
DR SignaLink; B3EWF7; -.
DR ChiTaRS; EPM2A; human.
DR Pharos; B3EWF7; Tbio.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; B3EWF7; protein.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0032007; P:negative regulation of TOR signaling; IMP:MGI.
DR GO; GO:0016239; P:positive regulation of macroautophagy; IMP:MGI.
PE 1: Evidence at protein level;
KW Alternative initiation; Alternative splicing; Nucleus; Reference proteome.
FT CHAIN 1..344
FT /note="Laforin, isoform 9"
FT /id="PRO_0000416051"
FT REGION 1..44
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 58..134
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 158..188
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 320..344
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 344 AA; 35169 MW; FE403E31ED3EE9DE CRC64;
MHPKEGAEQH VFSPVPGAPT PPPNRCGRLV LGPRLPAAGT PGPGIRAAAA RHALPLWGGG
ATRRGRRPAG AAGGGVAARA GALGAARCRP PEAGRHRGGR RGPGPAGAGP VARGGGAGGR
GGGAGRGGAG PRGHVLVQVP EAGAGRRALL GRYCQQTPAP GAERELRPAP PTGASASGRP
RRPRRRASRA FCPRPCALPG RPGLTLLCRP RCRRQPRLRL PTDSLDPYSA PGRLPAHSVA
CPSDLVSAHP VLSFFPTAPA SRASALRLPP GAPFALRVPL DLRVPPFAGP LAARPRAADG
FNSPTPPWLG FVSSFSCSNS LKKTQNDPTN ETSVFANPRQ QCAT
