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

Gene ID: 9852, updated on 12-Oct-2019

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
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

Genomic context

See EPM2AIP1 in Genome Data Viewer
Location:
3p22.2
Exon count:
1
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (36985043..36993131, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (37027357..37034795, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, U6atac small nuclear 4, pseudogene Neighboring gene protease associated domain containing 1 pseudogene 1 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

Homology

Clone Names

  • FLJ11207, KIAA0766

Gene Ontology Provided by GOA

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

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
    Q7L775
    Related
    ENSP00000406027.1, ENST00000322716.8

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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