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

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7429
Gene name Gene Name - the full gene name approved by the HGNC.	Villin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	VIL1
Synonyms (NCBI Gene) Gene synonyms aliases	D2S1471, VIL
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q35
Summary Summary of gene provided in NCBI Entrez Gene.	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(59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IDA	15342783, 17229814, 17606613
GO:0001951	Process	Intestinal D-glucose absorption	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
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA	21873635
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	14594952
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA
GO:0005902	Component	Microvillus	IDA	17182858
GO:0005903	Component	Brush border	ISS
GO:0006915	Process	Apoptotic process	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	17229814
GO:0008154	Process	Actin polymerization or depolymerization	IBA	21873635
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	21873635
GO:0030027	Component	Lamellipodium	IBA	21873635
GO:0030027	Component	Lamellipodium	IDA	16921170, 17229814, 17606613, 18054784
GO:0030041	Process	Actin filament polymerization	IDA	11500485
GO:0030042	Process	Actin filament depolymerization	IDA	11500485
GO:0030175	Component	Filopodium	IDA	15342783
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	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:0043027	Function	Cysteine-type endopeptidase inhibitor activity involved in apoptotic process	ISS
GO:0043154	Process	Negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA
GO:0045010	Process	Actin nucleation	IEA
GO:0051014	Process	Actin filament severing	IBA	21873635
GO:0051014	Process	Actin filament severing	IDA	16921170, 17182858, 19808673
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051015	Function	Actin filament binding	IDA	11500485, 15096633, 19808673
GO:0051016	Process	Barbed-end actin filament capping	IBA	21873635
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:0060327	Process	Cytoplasmic actin-based contraction involved in cell motility	IDA	15342783
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: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	21873635
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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	27989131

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis			GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Associate	19377296, 33024199
Arthritis Rheumatoid	Associate	8863160
Carcinoma Hepatocellular	Associate	22530999
Crohn Disease	Associate	27013401
Intestinal Diseases	Associate	25800782, 28536478
Neoplasms	Associate	19377296
Renal Insufficiency Chronic	Associate	32046176
Uterine Cervical Neoplasms	Associate	19377296

VIL1 (villin 1)