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Protein

Advillin

Gene

AVIL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Ca2+-regulated actin-binding protein. May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-like outgrowth. Plays a role in regenerative sensory axon outgrowth and remodeling processes after peripheral injury in neonates. Involved in the formation of long fine actin-containing filopodia-like structures in fibroblast. Plays a role in ciliogenesis.1 Publication

GO - Molecular functioni

GO - Biological processi

  • actin filament capping Source: UniProtKB-KW
  • cilium morphogenesis Source: UniProtKB
  • cytoskeleton organization Source: InterPro
  • nervous system development Source: ProtInc
  • positive regulation of neuron projection development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Actin capping

Keywords - Ligandi

Actin-binding, Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000135407-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Advillin
Alternative name(s):
p92
Gene namesi
Name:AVIL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:14188. AVIL.

Subcellular locationi

GO - Cellular componenti

  • actin cytoskeleton Source: ProtInc
  • axon Source: UniProtKB-SubCell
  • cell projection Source: UniProtKB
  • cytoplasm Source: UniProtKB-KW
  • neuron projection Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi62W → A: Reduces interaction with F-actin. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000135407.
PharmGKBiPA38380.

Polymorphism and mutation databases

BioMutaiAVIL.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002187361 – 819AdvillinAdd BLAST819

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei85PhosphotyrosineBy similarity1
Modified residuei758PhosphotyrosineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO75366.
PaxDbiO75366.
PeptideAtlasiO75366.
PRIDEiO75366.

PTM databases

iPTMnetiO75366.
PhosphoSitePlusiO75366.

Expressioni

Tissue specificityi

Most highly expressed in the small intestine and colonic lining. Weaker expression also detected in the thymus, prostate, testes and uterus.1 Publication

Gene expression databases

BgeeiENSG00000135407.
CleanExiHS_AVIL.
ExpressionAtlasiO75366. baseline and differential.
GenevisibleiO75366. HS.

Organism-specific databases

HPAiHPA058864.

Interactioni

Subunit structurei

Associates (via C-terminus) with actin. Interacts with SCARF1 (By similarity). Interacts with F-actin.By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115918. 28 interactors.
MINTiMINT-4990440.
STRINGi9606.ENSP00000257861.

Structurei

Secondary structure

1819
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi787 – 794Combined sources8
Helixi798 – 803Combined sources6
Helixi806 – 817Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1UNDNMR-A784-819[»]
ProteinModelPortaliO75366.
SMRiO75366.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75366.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati24 – 73Gelsolin-like 1Add BLAST50
Repeati145 – 185Gelsolin-like 2Add BLAST41
Repeati262 – 306Gelsolin-like 3Add BLAST45
Repeati403 – 454Gelsolin-like 4Add BLAST52
Repeati525 – 565Gelsolin-like 5Add BLAST41
Repeati628 – 669Gelsolin-like 6Add BLAST42
Domaini753 – 819HPPROSITE-ProRule annotationAdd BLAST67

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 731CoreBy similarityAdd BLAST731
Regioni109 – 116Polyphosphoinositide bindingBy similarity8
Regioni135 – 143Polyphosphoinositide bindingBy similarity9
Regioni731 – 819HeadpieceBy similarityAdd BLAST89

Sequence similaritiesi

Belongs to the villin/gelsolin family.Curated
Contains 6 gelsolin-like repeats.Curated
Contains 1 HP (headpiece) domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0443. Eukaryota.
ENOG410XR0A. LUCA.
GeneTreeiENSGT00760000119111.
HOGENOMiHOG000233630.
HOVERGENiHBG004183.
InParanoidiO75366.
KOiK08017.
OMAiCDGSENT.
OrthoDBiEOG091G05SC.
PhylomeDBiO75366.
TreeFamiTF313468.

Family and domain databases

Gene3Di1.10.950.10. 1 hit.
3.40.20.10. 6 hits.
InterProiIPR029006. ADF-H/Gelsolin-like_dom.
IPR030014. Advillin.
IPR007123. Gelsolin-like_dom.
IPR007122. Villin/Gelsolin.
IPR003128. Villin_headpiece.
[Graphical view]
PANTHERiPTHR11977. PTHR11977. 1 hit.
PTHR11977:SF33. PTHR11977:SF33. 1 hit.
PfamiPF00626. Gelsolin. 6 hits.
PF02209. VHP. 1 hit.
[Graphical view]
PRINTSiPR00597. GELSOLIN.
SMARTiSM00262. GEL. 6 hits.
SM00153. VHP. 1 hit.
[Graphical view]
SUPFAMiSSF47050. SSF47050. 1 hit.
SSF82754. SSF82754. 2 hits.
PROSITEiPS51089. HP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75366-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPLTSAFRAV DNDPGIIVWR IEKMELALVP VSAHGNFYEG DCYVILSTRR
60 70 80 90 100
VASLLSQDIH FWIGKDSSQD EQSCAAIYTT QLDDYLGGSP VQHREVQYHE
110 120 130 140 150
SDTFRGYFKQ GIIYKQGGVA SGMKHVETNT YDVKRLLHVK GKRNIRATEV
160 170 180 190 200
EMSWDSFNRG DVFLLDLGKV IIQWNGPESN SGERLKAMLL AKDIRDRERG
210 220 230 240 250
GRAKIGVIEG DKEAASPELM KVLQDTLGRR SIIKPTVPDE IIDQKQKSTI
260 270 280 290 300
MLYHISDSAG QLAVTEVATR PLVQDLLNHD DCYILDQSGT KIYVWKGKGA
310 320 330 340 350
TKAEKQAAMS KALGFIKMKS YPSSTNVETV NDGAESAMFK QLFQKWSVKD
360 370 380 390 400
QTMGLGKTFS IGKIAKVFQD KFDVTLLHTK PEVAAQERMV DDGNGKVEVW
410 420 430 440 450
RIENLELVPV EYQWYGFFYG GDCYLVLYTY EVNGKPHHIL YIWQGRHASQ
460 470 480 490 500
DELAASAYQA VEVDRQFDGA AVQVRVRMGT EPRHFMAIFK GKLVIFEGGT
510 520 530 540 550
SRKGNAEPDP PVRLFQIHGN DKSNTKAVEV PAFASSLNSN DVFLLRTQAE
560 570 580 590 600
HYLWYGKGSS GDERAMAKEL ASLLCDGSEN TVAEGQEPAE FWDLLGGKTP
610 620 630 640 650
YANDKRLQQE ILDVQSRLFE CSNKTGQFVV TEITDFTQDD LNPTDVMLLD
660 670 680 690 700
TWDQVFLWIG AEANATEKES ALATAQQYLH THPSGRDPDT PILIIKQGFE
710 720 730 740 750
PPIFTGWFLA WDPNIWSAGK TYEQLKEELG DAAAIMRITA DMKNATLSLN
760 770 780 790 800
SNDSEPKYYP IAVLLKNQNQ ELPEDVNPAK KENYLSEQDF VSVFGITRGQ
810
FAALPGWKQL QMKKEKGLF
Length:819
Mass (Da):92,027
Last modified:November 30, 2010 - v3
Checksum:iF5EF3A94BA61E647
GO
Isoform 2 (identifier: O75366-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MPLTSAFRAVDNDPGIIVWRI → MSSTGHPGSYKIWG

Show »
Length:812
Mass (Da):91,163
Checksum:iCAACCD7994F2D989
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti445G → D in AAC25051 (PubMed:9664034).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054974204K → E.4 PublicationsCorresponds to variant rs2172521dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0369611 – 21MPLTS…IVWRI → MSSTGHPGSYKIWG in isoform 2. 1 PublicationAdd BLAST21

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF041449 mRNA. Translation: AAC25051.1.
AK314362 mRNA. Translation: BAG36994.1.
AC025165 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW97080.1.
BC111730 mRNA. Translation: AAI11731.1.
CCDSiCCDS8959.1. [O75366-1]
RefSeqiNP_006567.3. NM_006576.3. [O75366-1]
XP_016874199.1. XM_017018710.1. [O75366-1]
UniGeneiHs.584854.

Genome annotation databases

EnsembliENST00000257861; ENSP00000257861; ENSG00000135407. [O75366-1]
GeneIDi10677.
KEGGihsa:10677.
UCSCiuc001sqj.4. human. [O75366-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF041449 mRNA. Translation: AAC25051.1.
AK314362 mRNA. Translation: BAG36994.1.
AC025165 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW97080.1.
BC111730 mRNA. Translation: AAI11731.1.
CCDSiCCDS8959.1. [O75366-1]
RefSeqiNP_006567.3. NM_006576.3. [O75366-1]
XP_016874199.1. XM_017018710.1. [O75366-1]
UniGeneiHs.584854.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1UNDNMR-A784-819[»]
ProteinModelPortaliO75366.
SMRiO75366.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115918. 28 interactors.
MINTiMINT-4990440.
STRINGi9606.ENSP00000257861.

PTM databases

iPTMnetiO75366.
PhosphoSitePlusiO75366.

Polymorphism and mutation databases

BioMutaiAVIL.

Proteomic databases

MaxQBiO75366.
PaxDbiO75366.
PeptideAtlasiO75366.
PRIDEiO75366.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000257861; ENSP00000257861; ENSG00000135407. [O75366-1]
GeneIDi10677.
KEGGihsa:10677.
UCSCiuc001sqj.4. human. [O75366-1]

Organism-specific databases

CTDi10677.
GeneCardsiAVIL.
H-InvDBHIX0023233.
HGNCiHGNC:14188. AVIL.
HPAiHPA058864.
MIMi613397. gene.
neXtProtiNX_O75366.
OpenTargetsiENSG00000135407.
PharmGKBiPA38380.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0443. Eukaryota.
ENOG410XR0A. LUCA.
GeneTreeiENSGT00760000119111.
HOGENOMiHOG000233630.
HOVERGENiHBG004183.
InParanoidiO75366.
KOiK08017.
OMAiCDGSENT.
OrthoDBiEOG091G05SC.
PhylomeDBiO75366.
TreeFamiTF313468.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000135407-MONOMER.

Miscellaneous databases

ChiTaRSiAVIL. human.
EvolutionaryTraceiO75366.
GenomeRNAii10677.
PROiO75366.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135407.
CleanExiHS_AVIL.
ExpressionAtlasiO75366. baseline and differential.
GenevisibleiO75366. HS.

Family and domain databases

Gene3Di1.10.950.10. 1 hit.
3.40.20.10. 6 hits.
InterProiIPR029006. ADF-H/Gelsolin-like_dom.
IPR030014. Advillin.
IPR007123. Gelsolin-like_dom.
IPR007122. Villin/Gelsolin.
IPR003128. Villin_headpiece.
[Graphical view]
PANTHERiPTHR11977. PTHR11977. 1 hit.
PTHR11977:SF33. PTHR11977:SF33. 1 hit.
PfamiPF00626. Gelsolin. 6 hits.
PF02209. VHP. 1 hit.
[Graphical view]
PRINTSiPR00597. GELSOLIN.
SMARTiSM00262. GEL. 6 hits.
SM00153. VHP. 1 hit.
[Graphical view]
SUPFAMiSSF47050. SSF47050. 1 hit.
SSF82754. SSF82754. 2 hits.
PROSITEiPS51089. HP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAVIL_HUMAN
AccessioniPrimary (citable) accession number: O75366
Secondary accession number(s): B2RAU7, Q2NKM9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: November 30, 2010
Last modified: November 2, 2016
This is version 139 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.