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

Gene ID: 2128, updated on 13-Mar-2020

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
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

Genomic context

See EVX1 in Genome Data Viewer
Location:
7p15.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (27242802..27247830)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (27282164..27287438)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NUP98-HOXA13 recombination region Neighboring gene homeobox A13 Neighboring gene HOXA distal transcript antisense RNA Neighboring gene EVX1 antisense RNA Neighboring gene VISTA enhancer hs629 Neighboring gene ribosomal protein L35 pseudogene 4

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI 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.
NHGRI GWA Catalog
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
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)

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
    P49640
    Related
    ENSP00000419266.3, ENST00000496902.7
    Conserved Domains (1) summary
    smart00389
    Location:183239
    HOX; Homeodomain

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000007.14 Reference GRCh38.p13 Primary Assembly

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