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    EVX1 even-skipped homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 2128, updated on 17-Jun-2024

    Summary

    Official Symbol
    EVX1provided by HGNC
    Official Full Name
    even-skipped homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:3506
    See related
    Ensembl:ENSG00000106038 MIM:142996; AllianceGenome:HGNC:3506
    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
    EVX-1
    Summary
    This gene encodes a member of the even-skipped homeobox family characterized by the presence of a homeodomain closely related to the Drosophila even-skipped (eve) segmentation gene of the pair-rule class. The encoded protein may play an important role as a transcriptional repressor during embryogenesis. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in prostate (RPKM 2.2), adrenal (RPKM 1.7) and 3 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See EVX1 in Genome Data Viewer
    Location:
    7p15.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (27242802..27247830)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (27378788..27383816)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (27282421..27287449)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NUP98-HOXA13 recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27242057-27242581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27244076-27244800 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27244801-27245523 Neighboring gene homeobox A13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27249966-27250466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27250467-27250967 Neighboring gene HOXA distal transcript antisense RNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27252523-27253272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27253273-27254021 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27259729-27260290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27264497-27265180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27282039-27282916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27284838-27285446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27285447-27286056 Neighboring gene VISTA enhancer hs629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27290949-27291652 Neighboring gene EVX1 antisense RNA Neighboring gene ribosomal protein L35 pseudogene 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:27334918-27335147 Neighboring gene NANOG hESC enhancer GRCh37_chr7:27359724-27360225 Neighboring gene uncharacterized LOC107986733

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
    EBI GWAS Catalog
    Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in embryo development ending in birth or egg hatching IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in interneuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II 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
     
    involved_in spinal cord interneuron axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    homeobox even-skipped homolog protein 1
    Names
    eve, even-skipped homeo box homolog 1
    eve, even-skipped homeobox homolog 1
    even-skipped homeo box 1 (homolog of Drosophila)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001304519.2NP_001291448.1  homeobox even-skipped homolog protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001291448.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5'-terminal exon and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC004080, AK299188, AK314155, KF458418
      UniProtKB/Swiss-Prot
      P49640
      UniProtKB/TrEMBL
      B4DRC0
      Conserved Domains (1) summary
      pfam00046
      Location:557
      Homeobox; Homeobox domain
    2. NM_001304520.2NP_001291449.1  homeobox even-skipped homolog protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001291449.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5'-terminal exon, contains an alternate exon in its 5' UTR, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC004080, AK298822, AK299188, KF458418
      UniProtKB/Swiss-Prot
      P49640
      UniProtKB/TrEMBL
      B4DRC0
      Conserved Domains (1) summary
      pfam00046
      Location:557
      Homeobox; Homeobox domain
    3. NM_001989.5NP_001980.1  homeobox even-skipped homolog protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001980.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC004080, KF458418, X60655
      Consensus CDS
      CCDS5413.1
      UniProtKB/Swiss-Prot
      A4D199, B4DQJ0, P49640
      Related
      ENSP00000419266.3, ENST00000496902.7
      Conserved Domains (1) summary
      smart00389
      Location:183239
      HOX; Homeodomain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      27242802..27247830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      27378788..27383816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)