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

Gene ID: 2016, updated on 22-Aug-2021

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
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Genomic context

See EMX1 in Genome Data Viewer
Location:
2p13.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (72910949..72936691)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73144648..73162020)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1025 Neighboring gene CRISPRi-validated cis-regulatory element chr2.2721 Neighboring gene zinc finger MYM-type containing 1 pseudogene Neighboring gene sideroflexin 5 Neighboring gene Sharpr-MPRA regulatory region 2442 Neighboring gene uncharacterized LOC107985897

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

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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.

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, ENST00000258106.11
    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 Updated Annotation Release 109.20210514

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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