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

    Gene ID: 2128, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See EVX1 in Genome Data Viewer
    Location:
    7p15.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (27242802..27247830)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (27378788..27383816)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Contribution of EVX1 in Aggressiveness of Esophageal Squamous Cell Carcinoma. Mallak AJ, et al. Pathol Oncol Res, 2016 Apr. PMID 26552663
    2. Transcriptional repression by the human homeobox protein EVX1 in transfected mammalian cells. Briata P, et al. J Biol Chem, 1995 Nov 17. PMID 7499236
    3. EVEN-SKIPPED HOMEOBOX 1 controls human ES cell differentiation by directly repressing GOOSECOID expression. Kalisz M, et al. Dev Biol, 2012 Feb 1. PMID 22178155
    4. Isolation and mapping of EVX1, a human homeobox gene homologous to even-skipped, localized at the 5' end of HOX1 locus on chromosome 7. Faiella A, et al. Nucleic Acids Res, 1991 Dec 11. PMID 1684419, Free PMC Article
    5. Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. Franceschini N, et al. Am J Hum Genet, 2013 Sep 5. PMID 23972371, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Low EVX1 expression is Correlated with Aggressiveness of Esophageal Squamous Cell Carcinoma.
      Title: Contribution of EVX1 in Aggressiveness of Esophageal Squamous Cell Carcinoma.
    2. Even-skipped homeobox 1 controls human embryonic stem cell differentiation by directly repressing Goosecoid expression.
      Title: EVEN-SKIPPED HOMEOBOX 1 controls human ES cell differentiation by directly repressing GOOSECOID expression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    located_in 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

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    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)

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    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_001304519.2 → NP_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:5 → 57
      Homeobox; Homeobox domain

    2. NM_001304520.2 → NP_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:5 → 57
      Homeobox; Homeobox domain

    3. NM_001989.5 → NP_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:183 → 239
      HOX; Homeodomain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49640.1 GenPept UniProtKB/Swiss-Prot:P49640

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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