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    IRF2BPL interferon regulatory factor 2 binding protein like [ Homo sapiens (human) ]

    Gene ID: 64207, updated on 15-Apr-2019

    Summary

    Official Symbol
    IRF2BPLprovided by HGNC
    Official Full Name
    interferon regulatory factor 2 binding protein likeprovided by HGNC
    Primary source
    HGNC:HGNC:14282
    See related
    Ensembl:ENSG00000119669 MIM:611720
    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
    Also known as
    EAP1; C14orf4; NEDAMSS
    Summary
    This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]
    Orthologs

    Genomic context

    See IRF2BPL in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (77024543..77028699, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (77490886..77495042, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 356, pseudogene Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 1 Neighboring gene arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 Neighboring gene uncharacterized LOC105370579 Neighboring gene VISTA enhancer hs1903 Neighboring gene long intergenic non-protein coding RNA 2288

    Genomic regions, transcripts, and products

    Phenotypes

    Associated conditions

    Description Tests
    NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
    MedGen: CN252701 OMIM: 618088 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1865

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-binding transcription activator activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    development of secondary female sexual characteristics ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular space HDA PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    probable E3 ubiquitin-protein ligase IRF2BPL
    Names
    enhanced at puberty 1
    enhanced at puberty protein 1
    NP_078772.1

    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.

    mRNA and Protein(s)

    1. NM_024496.4NP_078772.1  probable E3 ubiquitin-protein ligase IRF2BPL

      See identical proteins and their annotated locations for NP_078772.1

      Status: REVIEWED

      Source sequence(s)
      AC007686, BC108292
      Consensus CDS
      CCDS9854.1
      UniProtKB/Swiss-Prot
      Q9H1B7
      Related
      ENSP00000238647.3, ENST00000238647.5
      Conserved Domains (2) summary
      smart00184
      Location:715759
      RING; Ring finger
      pfam11261
      Location:1061
      IRF-2BP1_2; Interferon regulatory factor 2-binding protein zinc finger

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

      Range
      77024543..77028699 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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