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Protein

Advillin

Gene

AVIL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 assembly Source: UniProtKB
  • cytoskeleton organization Source: InterPro
  • nervous system development Source: ProtInc
  • positive regulation of neuron projection development Source: UniProtKB

Keywordsi

Molecular functionActin capping, Actin-binding
LigandCalcium

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

EuPathDBiHostDB:ENSG00000135407.10
HGNCiHGNC:14188 AVIL
MIMi613397 gene
neXtProtiNX_O75366

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

DisGeNETi10677
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
ProteomicsDBi49932
49933 [O75366-2]

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, 33 interactors
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

Keywords - Domaini

Repeat

Phylogenomic databases

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

Family and domain databases

Gene3Di1.10.950.10, 1 hit
3.40.20.10, 6 hits
InterProiView protein in InterPro
IPR029006 ADF-H/Gelsolin-like_dom_sf
IPR007123 Gelsolin-like_dom
IPR036180 Gelsolin-like_dom_sf
IPR007122 Villin/Gelsolin
IPR003128 Villin_headpiece
IPR036886 Villin_headpiece_dom_sf
PANTHERiPTHR11977 PTHR11977, 1 hit
PfamiView protein in Pfam
PF00626 Gelsolin, 6 hits
PF02209 VHP, 1 hit
PRINTSiPR00597 GELSOLIN
SMARTiView protein in SMART
SM00262 GEL, 6 hits
SM00153 VHP, 1 hit
SUPFAMiSSF47050 SSF47050, 1 hit
SSF82754 SSF82754, 2 hits
PROSITEiView protein in PROSITE
PS51089 HP, 1 hit

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 → E4 PublicationsCorresponds to variant dbSNP:rs2172521Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiAVIL_HUMAN
AccessioniPrimary (citable) accession number: O75366
Secondary accession number(s): B2RAU7, Q2NKM9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: November 30, 2010
Last modified: June 20, 2018
This is version 152 of the entry and version 3 of the sequence. See 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

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