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

Gene ID: 2128, updated on 5-Mar-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
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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_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

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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)

Genotypes

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
  
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

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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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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_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)
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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