Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	7429
Gene name	Villin 1
Gene symbol	VIL1
Synonyms (NCBI Gene)	D2S1471VIL
Chromosome	2
Chromosome location	2q35
Summary	This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb a

Show/Hide all (11)

miRTarBase ID	miRNA	Experiments	Reference
MIRT719839	hsa-miR-224-3p	HITS-CLIP	19536157
MIRT719838	hsa-miR-522-3p	HITS-CLIP	19536157
MIRT719836	hsa-miR-4698	HITS-CLIP	19536157
MIRT719837	hsa-miR-2054	HITS-CLIP	19536157
MIRT719839	hsa-miR-224-3p	HITS-CLIP	19536157
MIRT719838	hsa-miR-522-3p	HITS-CLIP	19536157
MIRT719836	hsa-miR-4698	HITS-CLIP	19536157
MIRT719837	hsa-miR-2054	HITS-CLIP	19536157
MIRT1484928	hsa-miR-1252	CLIP-seq
MIRT1484929	hsa-miR-323-3p	CLIP-seq
MIRT1484930	hsa-miR-4762-3p	CLIP-seq

Show/Hide all (77)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IDA	15342783, 17229814, 17606613
GO:0001726	Component	Ruffle	IEA
GO:0001951	Process	Intestinal D-glucose absorption	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005509	Function	Calcium ion binding	IDA	11500485
GO:0005509	Function	Calcium ion binding	IMP	15272027
GO:0005515	Function	Protein binding	IPI	16921170, 17229814, 32814053
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	14594952
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005902	Component	Microvillus	IDA	17182858
GO:0005902	Component	Microvillus	IEA
GO:0005903	Component	Brush border	IEA
GO:0005903	Component	Brush border	ISS
GO:0006915	Process	Apoptotic process	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007015	Process	Actin filament organization	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	17229814
GO:0008154	Process	Actin polymerization or depolymerization	IBA
GO:0008360	Process	Regulation of cell shape	IDA	16921170
GO:0009617	Process	Response to bacterium	IDA	17182858
GO:0010634	Process	Positive regulation of epithelial cell migration	IDA	17229814
GO:0010634	Process	Positive regulation of epithelial cell migration	IGI	18054784
GO:0010634	Process	Positive regulation of epithelial cell migration	IMP	18054784
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0030027	Component	Lamellipodium	IBA
GO:0030027	Component	Lamellipodium	IDA	16921170, 17229814, 17606613, 18054784
GO:0030027	Component	Lamellipodium	IEA
GO:0030041	Process	Actin filament polymerization	IDA	11500485
GO:0030042	Process	Actin filament depolymerization	IDA	11500485
GO:0030175	Component	Filopodium	IDA	15342783
GO:0030175	Component	Filopodium	IEA
GO:0030335	Process	Positive regulation of cell migration	IDA	16921170
GO:0030836	Process	Positive regulation of actin filament depolymerization	IMP	15272027
GO:0030855	Process	Epithelial cell differentiation	IEP	21492153
GO:0032233	Process	Positive regulation of actin filament bundle assembly	IDA	19808673
GO:0032432	Component	Actin filament bundle	IDA	17182858
GO:0032433	Component	Filopodium tip	IEA
GO:0032433	Component	Filopodium tip	ISS
GO:0032532	Process	Regulation of microvillus length	IEA
GO:0035727	Function	Lysophosphatidic acid binding	IDA	19808673
GO:0035729	Process	Cellular response to hepatocyte growth factor stimulus	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042802	Function	Identical protein binding	IPI	17606613
GO:0042803	Function	Protein homodimerization activity	IDA	17606613
GO:0042995	Component	Cell projection	IEA
GO:0043027	Function	Cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IEA
GO:0043027	Function	Cysteine-type endopeptidase inhibitor activity involved in apoptotic process	ISS
GO:0044089	Process	Positive regulation of cellular component biogenesis	IEA
GO:0051014	Process	Actin filament severing	IBA
GO:0051014	Process	Actin filament severing	IDA	16921170, 17182858, 19808673
GO:0051014	Process	Actin filament severing	TAS	2846586
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	11500485, 15096633, 19808673
GO:0051015	Function	Actin filament binding	IEA
GO:0051016	Process	Barbed-end actin filament capping	IBA
GO:0051016	Process	Barbed-end actin filament capping	IMP	15272027
GO:0051125	Process	Regulation of actin nucleation	IDA	16921170, 17182858, 19808673
GO:0051693	Process	Actin filament capping	IDA	16921170, 17182858, 19808673
GO:0051693	Process	Actin filament capping	IEA
GO:0060327	Process	Cytoplasmic actin-based contraction involved in cell motility	IDA	15342783
GO:0061041	Process	Regulation of wound healing	IEA
GO:0061041	Process	Regulation of wound healing	ISS
GO:0065003	Process	Protein-containing complex assembly	TAS	2846586
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IDA	17229814
GO:1902745	Process	Positive regulation of lamellipodium organization	IEA
GO:1902896	Process	Terminal web assembly	IEA
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IEA
GO:2000392	Process	Regulation of lamellipodium morphogenesis	IBA
GO:2000392	Process	Regulation of lamellipodium morphogenesis	IEA
GO:2000392	Process	Regulation of lamellipodium morphogenesis	ISS
GO:2000394	Process	Positive regulation of lamellipodium morphogenesis	IGI	18054784
GO:2000394	Process	Positive regulation of lamellipodium morphogenesis	IMP	18054784

MIM	HGNC	e!Ensembl
193040	12690	ENSG00000127831

P09327

Protein name

Villin-1

Protein function

Epithelial cell-specific Ca(2+)-regulated actin-modifying protein that modulates the reorganization of microvillar actin filaments. Plays a role in the actin nucleation, actin filament bundle assembly, actin filament capping and severing. Binds

PDB

1UNC , 3FG7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00626	Gelsolin	26 → 108	Gelsolin repeat	Domain
PF00626	Gelsolin	146 → 221	Gelsolin repeat	Domain
PF00626	Gelsolin	266 → 343	Gelsolin repeat	Domain
PF00626	Gelsolin	407 → 489	Gelsolin repeat	Domain
PF00626	Gelsolin	526 → 595	Gelsolin repeat	Domain
PF00626	Gelsolin	630 → 708	Gelsolin repeat	Domain
PF02209	VHP	792 → 827	Villin headpiece domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Specifically expressed in epithelial cells. Major component of microvilli of intestinal epithelial cells and kidney proximal tubule cells. Expressed in canalicular microvilli of hepatocytes (at protein level). {ECO:0000269|PubMed:14550

Sequence

MTKLSAQVKGSLNITTPGLQIWRIEAMQMVPVPSSTFGSFFDGDCYIILAIHKTASSLSY
DIHYWIGQDSSLDEQGAAAIYTTQMDDFLKGRAVQHREVQGNESEAFRGYFKQGLVIRKG
GVASGMKHVETNSYDVQRLLHVKGKRNVVAGEVEMSWKSFNRGDVFLLDLGKLIIQWNGP
ESTRMERLRGMTLAKEIRDQERGGRTYVGVVDGENELASPKLMEVMNHVLGKRRELKAAV
PDTVVEPALKAALKLYHVSDSEGNLVVREVATRPLTQDLLSHEDCYILDQGGLKIYVWKG
KKANEQEKKGAMSHALNFIKAKQYPPSTQVEVQNDGAESAVFQQLFQKWTASNRTSGLGK
THTVGSVAKVEQVKFDATSMHVKPQVAAQQKMVDDGSGEVQVWRIENLELVPVDSKWLGH
FYGGDCYLLLYTYLIGEKQHYLLYVWQGSQASQDEITASAYQAVILDQKYNGEPVQIRVP
MGKEPPHLMSIFKGRMVVYQGGTSRTNNLETGPSTRLFQVQGTGANNTKAFEVPARANFL
NSNDVFVLKTQSCCYLWCGKGCSGDEREMAKMVADTISRTEKQVVVEGQEPANFWMALGG
KAPYANTKRLQEENLVITPRLFECSNKTGRFLATEIPDFNQDDLEEDDVFLLDVWDQVFF
WIGKHANEEEKKAAATTAQEYLKTHPSGRDPETPIIVVKQGHEPPTFTGWFLAWDPFKWS
NTKSYEDLKAELGNSRDWSQITAEVTSPKVDVFNANSNLSSGPLPIFPLEQLVNKPVEEL
PEGVDPSRKEEHLSIEDFTQAFGMTPAAFSALPRWKQQNLKKEKGLF

Sequence length

827

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VIL1-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis	Arthritis	BEFREE	8863160, 9058648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	8863160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24266897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22530999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	27989131		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28244683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29471325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	18305068, 29274870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	27013401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	28244683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10593567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	25800782, 28536478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	10857800, 15641099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28704336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28244683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22530999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19377296, 24266897, 29471325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	8863160, 9002042, 9058648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	22304365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	24266897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19377296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19377296	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

VIL1 (villin 1)