• Gene id: 51466

Gene Summary

• Gene Symbol: EVL   Gene   UCSC   Ensembl
• Aliases: RNB6
• Gene name: Enah/Vasp-like
• Alternate names: ena/VASP-like protein, ena/vasodilator-stimulated phosphoprotein-like, epididymis secretory sperm binding protein,
• Gene location: 14q32.2 (99971421: 100144235)     Exons: 21     NC_000014.9
• OMIM: 616912

Protein Summary

• Protein general information: Q9UI08  
  • Name: Ena/VASP like protein (Ena/vasodilator stimulated phosphoprotein like)
  • Length: 416  
  • Mass: 44620
• Sequence:

  MSEQSICQARASVMVYDDTSKKWVPIKPGQQGFSRINIYHNTASNTFRVVGVKLQDQQVVINYSIVKGLKYNQAT
  PTFHQWRDARQVYGLNFASKEEATTFSNAMLFALNIMNSQEGGPSSQRQVQNGPSPDEMDIQRRQVMEQHQQQRQ
  ESLERRTSATGPILPPGHPSSAASAPVSCSGPPPPPPPPVPPPPTGATPPPPPPLPAGGAQGSSHDESSMSGLAA
  AIAGAKLRRVQRPEDASGGSSPSGTSKSDANRASSGGGGGGLMEEMNKLLAKRRKAASQSDKPAEKKEDESQMED
  PSTSPSPGTRAASQPPNSSEAGRKPWERSNSVEKPVSSILSRTPSVAKSPEAKSPLQSQPHSRMKPAGSVNDMAL
  DAFDLDRMKQEILEEVVRELHKVKEEIIDAIRQELSGISTT

• Structural information:
  • Protein Domains: (1..11-)
    (/note="WH1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00410"-)
  • Interpro: IPR034319  IPR042180  IPR011993  IPR017354  IPR038023   IPR014885  IPR000697  
  • Prosite: PS50229
  • STRING: ENSP00000376652
• Other Databases: GeneCards:  EVL  Malacards:  EVL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017124	SH3 domain binding	IBA	molecular function
GO:0008154	actin polymerization or depolymerization	IBA	biological process
GO:0030838	positive regulation of actin filament polymerization	IBA	biological process
GO:0005522	profilin binding	IBA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0008154	actin polymerization or depolymerization	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0045010	actin nucleation	IEA	biological process
GO:0051289	protein homotetramerization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007015	actin filament organization	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0030838	positive regulation of actin filament polymerization	IEA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005522	profilin binding	IEA	molecular function
GO:0071346	cellular response to interferon-gamma	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0008154	actin polymerization or depolymerization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:1900028	negative regulation of ruffle assembly	IMP	biological process
GO:0010633	negative regulation of epithelial cell migration	IMP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0005925	focal adhesion	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005522	profilin binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051496	positive regulation of stress fiber assembly	IMP	biological process
GO:0008154	actin polymerization or depolymerization	ISS	biological process
GO:0017124	SH3 domain binding	ISS	molecular function
GO:0009887	animal organ morphogenesis	NAS	biological process
GO:0007399	nervous system development	NAS	biological process
GO:0007166	cell surface receptor signaling pathway	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04015	Rap1 signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq