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EVL Enah/Vasp-like [ Homo sapiens (human) ]

Gene ID: 51466, updated on 2-Nov-2024

Summary

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Official Symbol
EVLprovided by HGNC
Official Full Name
Enah/Vasp-likeprovided by HGNC
Primary source
HGNC:HGNC:20234
See related
Ensembl:ENSG00000196405 MIM:616912; AllianceGenome:HGNC:20234
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
Also known as
RNB6
Summary
Predicted to enable SH3 domain binding activity and profilin binding activity. Involved in negative regulation of epithelial cell migration; negative regulation of ruffle assembly; and positive regulation of stress fiber assembly. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in lymph node (RPKM 31.5), spleen (RPKM 27.6) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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See EVL in Genome Data Viewer
Location:
14q32.2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (99971422..100144236)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (94204463..94377284)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100437759..100610573)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100412450-100413378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100416877-100417378 Neighboring gene RNA, U1 small nuclear 47, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100434342-100434951 Neighboring gene Sharpr-MPRA regulatory region 1879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6072 Neighboring gene voltage dependent anion channel 3 pseudogene 1 Neighboring gene ribosomal protein S2 pseudogene 3 Neighboring gene uncharacterized LOC124903379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9018 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:100534710-100535909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9022 Neighboring gene microRNA 151b Neighboring gene uncharacterized LOC124903381 Neighboring gene microRNA 342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100604691-100605396 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100605397-100606101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100611023-100611523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100613080-100613600 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100613601-100614119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6074 Neighboring gene uncharacterized LOC124903380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100632407-100632908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100632909-100633408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6075 Neighboring gene delta 4-desaturase, sphingolipid 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100680080-100680580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100684247-100684748 Neighboring gene Sharpr-MPRA regulatory region 8458 Neighboring gene YY1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100698662-100699162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100699163-100699663 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100704543-100705395

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 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. Elevated EVL Methylation Level in the Normal Colon Mucosa Is a Potential Risk Biomarker for Developing Recurrent Adenomas. Yu M, et al. Cancer Epidemiol Biomarkers Prev, 2023 Sep 1. PMID 37294695, Free PMC Article
  2. Epigenetic silencing of the intronic microRNA hsa-miR-342 and its host gene EVL in colorectal cancer. Grady WM, et al. Oncogene, 2008 Jun 19. PMID 18264139
  3. EVL (Ena/VASP-like) expression is up-regulated in human breast cancer and its relative expression level is correlated with clinical stages. Hu LD, et al. Oncol Rep, 2008 Apr. PMID 18357390
  4. Single-stranded DNA catenation mediated by human EVL and a type I topoisomerase. Takaku M, et al. Nucleic Acids Res, 2010 Nov. PMID 20639531, Free PMC Article
  5. Differential display cloning of a novel rat cDNA (RNB6) that shows high expression in the neonatal brain revealed a member of Ena/VASP family. Ohta S, et al. Biochem Biophys Res Commun, 1997 Aug 18. PMID 9268706

See all (69) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Elevated EVL Methylation Level in the Normal Colon Mucosa Is a Potential Risk Biomarker for Developing Recurrent Adenomas.
    Title: Elevated EVL Methylation Level in the Normal Colon Mucosa Is a Potential Risk Biomarker for Developing Recurrent Adenomas.
  2. Exercise effects on DNA methylation in EVL, CDKN2A (p14, ARF), and ESR1 in colon tissue from healthy men and women.
    Title: Exercise effects on DNA methylation in EVL, CDKN2A (p14, ARF), and ESR1 in colon tissue from healthy men and women.
  3. EVL/miR-342 methylation was preferentially detected in IgD multiple myeloma
    Title: Epigenetic silencing of EVL/miR-342 in multiple myeloma.
  4. Identify CRMP-1 as a novel regulator of actin filament elongation and reveal a surprisingly important role for CRMP-1, EVL, and actin polymerization in maintaining the structural integrity of epithelial sheets.
    Title: CRMP-1 enhances EVL-mediated actin elongation to build lamellipodia and the actin cortex.
  5. ENA/VASP-family proteins are functionally redundant in homologous recombination, and MENA, VASP and EVL may be involved in the DSB repair pathway in humans
    Title: Biochemical analysis of the human ENA/VASP-family proteins, MENA, VASP and EVL, in homologous recombination.
  6. EVL, with either E. coli topoisomerase I or human topoisomerase IIIalpha, catalyzed ssDNA catenation.
    Title: Single-stranded DNA catenation mediated by human EVL and a type I topoisomerase.
  7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  8. EVH2 domain, which is highly conserved among the ENA/VASP family proteins, may be responsible for the recombination function of EVL.
    Title: Biochemical analysis of the human EVL domains in homologous recombination.
  9. EVL protein is a novel recombination factor that may be required for repairing specific DNA lesions, and that may cause tumor malignancy by its inappropriate expression.
    Title: Recombination activator function of the novel RAD51- and RAD51B-binding protein, human EVL.
  10. A microRNA encoded in an intron of the gene EVL, is commonly suppressed in human colorectal cancer.
    Title: Epigenetic silencing of the intronic microRNA hsa-miR-342 and its host gene EVL in colorectal cancer.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with Enah/Vasp-like (EVL) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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 SH3 domain binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables profilin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables profilin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament organization TAS
Traceable Author Statement
more info
 PubMed 
involved_in actin polymerization or depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in actin polymerization or depolymerization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in animal organ morphogenesis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell surface receptor signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of epithelial cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of ruffle assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nervous system development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein homotetramerization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in focal adhesion ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in membrane HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in stress fiber IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ena/VASP-like protein
Names
ena/vasodilator-stimulated phosphoprotein-like
epididymis secretory sperm binding protein

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_001330221.2 → NP_001317150.1  ena/VASP-like protein isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in the use of an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus.
    Source sequence(s)
    AL133368, BC023997, CX165372
    Consensus CDS
    CCDS81851.1
    UniProtKB/Swiss-Prot
    A8K105, B7Z3I5, O95884, Q7Z522, Q8TBV1, Q9UF25, Q9UI08, Q9UIC2
    UniProtKB/TrEMBL
    A0A024R6K5
    Related
    ENSP00000384720.2, ENST00000402714.6
    Conserved Domains (2) summary
    cd01207
    Location:5 → 113
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:378 → 411
    VASP_tetra; VASP tetramerisation domain

  2. NM_016337.3 → NP_057421.1  ena/VASP-like protein isoform 1

    See identical proteins and their annotated locations for NP_057421.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC032358, BQ083568
    Consensus CDS
    CCDS9955.1
    UniProtKB/TrEMBL
    B4DW58
    Related
    ENSP00000376652.3, ENST00000392920.8
    Conserved Domains (2) summary
    cd01207
    Location:7 → 115
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:380 → 413
    VASP_tetra; VASP tetramerisation domain

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    99971422..100144236
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431464.1 → XP_047287420.1  ena/VASP-like protein isoform X5

  2. XM_005267749.4 → XP_005267806.1  ena/VASP-like protein isoform X1

    Related
    ENSP00000437904.2, ENST00000544450.6
    Conserved Domains (3) summary
    cd01207
    Location:11 → 119
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:384 → 417
    VASP_tetra; VASP tetramerization domain
    pfam10265
    Location:283 → 399
    DUF2217; Uncharacterized conserved protein (DUF2217)

  3. XM_047431462.1 → XP_047287418.1  ena/VASP-like protein isoform X3

  4. XM_011536828.3 → XP_011535130.1  ena/VASP-like protein isoform X6

    Conserved Domains (1) summary
    cd01207
    Location:11 → 119
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain

  5. XM_047431460.1 → XP_047287416.1  ena/VASP-like protein isoform X2

  6. XM_047431463.1 → XP_047287419.1  ena/VASP-like protein isoform X4

    UniProtKB/TrEMBL
    A0A2D1PGY7

  7. XM_047431465.1 → XP_047287421.1  ena/VASP-like protein isoform X7

RNA

  1. XR_007064013.1 RNA Sequence

  2. XR_007064014.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    94204463..94377284
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376198.1 → XP_054232173.1  ena/VASP-like protein isoform X1

  2. XM_054376200.1 → XP_054232175.1  ena/VASP-like protein isoform X3

  3. XM_054376202.1 → XP_054232177.1  ena/VASP-like protein isoform X6

  4. XM_054376201.1 → XP_054232176.1  ena/VASP-like protein isoform X4

    UniProtKB/TrEMBL
    A0A2D1PGY7

  5. XM_054376199.1 → XP_054232174.1  ena/VASP-like protein isoform X2

  6. XM_054376203.1 → XP_054232178.1  ena/VASP-like protein isoform X7

RNA

  1. XR_008488872.1 RNA Sequence

  2. XR_008488873.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UI08.2 GenPept UniProtKB/Swiss-Prot:Q9UI08

Gene LinkOut

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