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    EPM2AIP1 EPM2A interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 9852, updated on 19-Sep-2024

    Summary

    Official Symbol
    EPM2AIP1provided by HGNC
    Official Full Name
    EPM2A interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:19735
    See related
    Ensembl:ENSG00000178567 MIM:607911; AllianceGenome:HGNC:19735
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]
    Orthologs
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    Genomic context

    See EPM2AIP1 in Genome Data Viewer
    Location:
    3p22.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (36985043..36993131, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (36986417..36994504, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (37026534..37034622, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19668 Neighboring gene RNA, U6atac small nuclear 4, pseudogene Neighboring gene protease associated domain containing 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19671 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:37035199-37035710 Neighboring gene mutL homolog 1 Neighboring gene ribosomal protein L29 pseudogene 11 Neighboring gene LRR binding FLII interacting protein 2 Neighboring gene ubiquitin conjugating enzyme E2 D3 pseudogene 2

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11207, KIAA0766

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in glycogen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of glycogen biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasmic side of endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    EPM2A-interacting protein 1
    Names
    EPM2A (laforin) interacting protein 1
    laforin-interacting protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008418.1 RefSeqGene

      Range
      5174..13262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014805.4NP_055620.1  EPM2A-interacting protein 1

      See identical proteins and their annotated locations for NP_055620.1

      Status: REVIEWED

      Source sequence(s)
      AC011816, AY178832
      Consensus CDS
      CCDS46790.1
      UniProtKB/Swiss-Prot
      O94866, Q7L775, Q9H3L3
      Related
      ENSP00000406027.1, ENST00000322716.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      36985043..36993131 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      36986417..36994504 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)