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    EMX1 empty spiracles homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 2016, updated on 17-Jun-2019

    Summary

    Official Symbol
    EMX1provided by HGNC
    Official Full Name
    empty spiracles homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:3340
    See related
    Ensembl:ENSG00000135638 MIM:600034
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Biased expression in kidney (RPKM 6.4), brain (RPKM 1.7) and 1 other tissue See more
    Orthologs

    Genomic context

    See EMX1 in Genome Data Viewer
    Location:
    2p13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (72910949..72936691)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73144604..73162020)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1025 Neighboring gene zinc finger MYM-type containing 1 pseudogene Neighboring gene sideroflexin 5 Neighboring gene uncharacterized LOC107985897 Neighboring gene uncharacterized LOC105374800

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    brain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cerebral cortex neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cerebral cortex regionalization IEA
    Inferred from Electronic Annotation
    more info
     
    homeostasis of number of cells IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    neuroepithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuron projection extension IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    radial glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of oligodendrocyte progenitor proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    homeobox protein EMX1
    Names
    empty spiracles homolog 1
    empty spiracles-like protein 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_004097.3NP_004088.2  homeobox protein EMX1

      See identical proteins and their annotated locations for NP_004088.2

      Status: VALIDATED

      Source sequence(s)
      AC012366, BC045762
      Consensus CDS
      CCDS1921.2
      UniProtKB/Swiss-Prot
      Q04741
      Related
      ENSP00000258106.6, ENST00000258106.10
      Conserved Domains (2) summary
      COG5576
      Location:140251
      COG5576; Homeodomain-containing transcription factor [Transcription]
      pfam00046
      Location:196248
      Homeobox; Homeobox domain

    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.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      72910949..72936691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532697.3XP_011530999.1  homeobox protein EMX1 isoform X2

      See identical proteins and their annotated locations for XP_011530999.1

      UniProtKB/Swiss-Prot
      Q04741
      Conserved Domains (1) summary
      pfam00046
      Location:2577
      Homeobox; Homeobox domain
    2. XM_005264203.3XP_005264260.1  homeobox protein EMX1 isoform X1

      Conserved Domains (2) summary
      COG5576
      Location:140237
      COG5576; Homeodomain-containing transcription factor [Transcription]
      pfam00046
      Location:196237
      Homeobox; Homeobox domain

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001040404.1: Suppressed sequence

      Description
      NM_001040404.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
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