LOCUS       NP_780475                606 aa            linear   ROD 30-APR-2024
DEFINITION  EPM2A-interacting protein 1 [Mus musculus].
ACCESSION   NP_780475
VERSION     NP_780475.1
DBSOURCE    REFSEQ: accession NM_175266.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 606)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 606)
  AUTHORS   Nitschke,F., Sullivan,M.A., Wang,P., Zhao,X., Chown,E.E.,
            Perri,A.M., Israelian,L., Juana-Lopez,L., Bovolenta,P., Rodriguez
            de Cordoba,S., Steup,M. and Minassian,B.A.
  TITLE     Abnormal glycogen chain length pattern, not hyperphosphorylation,
            is critical in Lafora disease
  JOURNAL   EMBO Mol Med 9 (7), 906-917 (2017)
   PUBMED   28536304
  REMARK    GeneRIF: The authors conclude that laforin's principle function is
            to control glycogen chain lengths, in a malin-dependent fashion,
            and that loss of this control underlies Lafora disease.
REFERENCE   3  (residues 1 to 606)
  AUTHORS   Turnbull,J., Tiberia,E., Pereira,S., Zhao,X., Pencea,N.,
            Wheeler,A.L., Yu,W.Q., Ivovic,A., Naranian,T., Israelian,N.,
            Draginov,A., Piliguian,M., Frankland,P.W., Wang,P., Ackerley,C.A.,
            Giacca,A. and Minassian,B.A.
  TITLE     Deficiency of a glycogen synthase-associated protein, Epm2aip1,
            causes decreased glycogen synthesis and hepatic insulin resistance
  JOURNAL   J Biol Chem 288 (48), 34627-34637 (2013)
   PUBMED   24142699
  REMARK    GeneRIF: We show that the absence of Epm2aip1 in mice impairs
            allosteric activation of GS by glucose 6-phosphate, decreases
            hepatic glycogen synthesis, increases liver fat, causes hepatic
            insulin resistance, and protects against age-related obesity
REFERENCE   4  (residues 1 to 606)
  AUTHORS   Pei,L., Leblanc,M., Barish,G., Atkins,A., Nofsinger,R., Whyte,J.,
            Gold,D., He,M., Kawamura,K., Li,H.R., Downes,M., Yu,R.T.,
            Powell,H.C., Lingrel,J.B. and Evans,R.M.
  TITLE     Thyroid hormone receptor repression is linked to type I
            pneumocyte-associated respiratory distress syndrome
  JOURNAL   Nat Med 17 (11), 1466-1472 (2011)
   PUBMED   22001906
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 606)
  AUTHORS   Tamplin,O.J., Kinzel,D., Cox,B.J., Bell,C.E., Rossant,J. and
            Lickert,H.
  TITLE     Microarray analysis of Foxa2 mutant mouse embryos reveals novel
            gene expression and inductive roles for the gastrula organizer and
            its derivatives
  JOURNAL   BMC Genomics 9, 511 (2008)
   PUBMED   18973680
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 606)
  AUTHORS   Bulfone,A., Carotenuto,P., Faedo,A., Aglio,V., Garzia,L.,
            Bello,A.M., Basile,A., Andre,A., Cocchia,M., Guardiola,O.,
            Ballabio,A., Rubenstein,J.L. and Zollo,M.
  TITLE     Telencephalic embryonic subtractive sequences: a unique collection
            of neurodevelopmental genes
  JOURNAL   J Neurosci 25 (33), 7586-7600 (2005)
   PUBMED   16107646
REFERENCE   7  (residues 1 to 606)
  AUTHORS   Chan,E.M., Ackerley,C.A., Lohi,H., Ianzano,L., Cortez,M.A.,
            Shannon,P., Scherer,S.W. and Minassian,B.A.
  TITLE     Laforin preferentially binds the neurotoxic starch-like
            polyglucosans, which form in its absence in progressive myoclonus
            epilepsy
  JOURNAL   Hum Mol Genet 13 (11), 1117-1129 (2004)
   PUBMED   15102711
REFERENCE   8  (residues 1 to 606)
  AUTHORS   Okazaki,N., Kikuno,R., Ohara,R., Inamoto,S., Aizawa,H., Yuasa,S.,
            Nakajima,D., Nagase,T., Ohara,O. and Koga,H.
  TITLE     Prediction of the coding sequences of mouse homologues of KIAA
            gene: II. The complete nucleotide sequences of 400 mouse
            KIAA-homologous cDNAs identified by screening of terminal sequences
            of cDNA clones randomly sampled from size-fractionated libraries
  JOURNAL   DNA Res 10 (1), 35-48 (2003)
   PUBMED   12693553
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CJ125214.1, AK043518.1, AK033908.1, CD807865.1, AK122366.1 and
            CN530473.1.
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..606
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 60.92 cM"
     Protein         1..606
                     /product="EPM2A-interacting protein 1"
                     /note="laforin-interacting protein; EPM2A (laforin)
                     interacting protein 1"
                     /calculated_mol_wt=69965
     Region          20..79
                     /region_name="DUF4371"
                     /note="Domain of unknown function (DUF4371); cl46273"
                     /db_xref="CDD:480613"
     Site            147
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21183079; propagated from
                     UniProtKB/Swiss-Prot (Q8VEH5.1)"
     CDS             1..606
                     /gene="Epm2aip1"
                     /gene_synonym="A930003G21Rik; mKIAA0766"
                     /coded_by="NM_175266.4:117..1937"
                     /db_xref="CCDS:CCDS40785.1"
                     /db_xref="GeneID:77781"
                     /db_xref="MGI:MGI:1925031"
ORIGIN      
        1 mwmtpkrirm evdealvfrp ewtqrylvve paegdgalcl vcrrlvastr erdvrrhyea
       61 ehefyerfvg deeraalver lrqgdmslaa vltpeeratr aglglcrfla lkgrgwgegd
      121 fvhqcmevll revlpdhvgv legidlspei trqrilsids nlrsqlfnra rdfkayslal
      181 ddqafvayen yllvfirgvg rdlevqedll tiinlthhfs vgalmsaile alqtaglslq
      241 rmvgltttht lrmigensgl vsymrekavs pncwnvihys gflhlellss ydvdinqiin
      301 tisewvvmik trgvrrpefq pllteseseh gervngrcln nwlrrgktlk lifslrkeie
      361 aflvsvgatt vhfsdkqwlc dfgflvdimd ylreiseelq iskvfaaaaf erictfegkl
      421 sslqrhmeev nltdfpafsi ivdelkqqfk edqkifdpdr yqmvisrlqk dferhfkdlr
      481 fikkdlelfs npfsfkpeya pisvrveltk lqantdlwne yrvkdlgqfy aglsgeaypi
      541 ikgvaykvas lfdsnqicdk afayltrnqh tlsqpltdeh lqalfrvatt emdprwddlv
      601 rernds
//
