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

Summary

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

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
EVL/miR-342 methylation was preferentially detected in IgD multiple myeloma
Title: Epigenetic silencing of EVL/miR-342 in multiple myeloma.
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.
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.
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.
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.
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.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G35408 (e-PCR)
- UniSTS:40219

G35471 (e-PCR)
- UniSTS:10274

G35781 (e-PCR)
- UniSTS:40233

G36109 (e-PCR)
- UniSTS:56630

G35521 (e-PCR)
- UniSTS:7992

D2S2679 (e-PCR)
- UniSTS:56166

G06249 (e-PCR)
- UniSTS:11635

G35510 (e-PCR)
- UniSTS:44150

A002P22 (e-PCR)
- UniSTS:60804

RH93710 (e-PCR)
- UniSTS:89301

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 more info	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)

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
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

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

99971422..100144236

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431464.1 → XP_047287420.1 ena/VASP-like protein isoform X5
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)
XM_047431462.1 → XP_047287418.1 ena/VASP-like protein isoform X3
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
XM_047431460.1 → XP_047287416.1 ena/VASP-like protein isoform X2
XM_047431463.1 → XP_047287419.1 ena/VASP-like protein isoform X4

UniProtKB/TrEMBL

A0A2D1PGY7
XM_047431465.1 → XP_047287421.1 ena/VASP-like protein isoform X7