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AVIL Gene

protein-coding   GIFtS: 51

GC12M056477
advillin
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ADVIL 1, 2
DKFZp779O1812 2
DOC6 1, 2
FLJ12386 1, 2
MGC133244 2
advillin 2
p92 1, 2, 3
External Ids
HGNC: 141881
Entrez Gene: 106772
UniProtKB: O753663
Ensembl: ENSG000001354077
Search outside databases for aliases for AVIL gene

Previous GC identifers: GC12M057793 GC12M058334 GC12M057907

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for AVIL:
The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory
proteins. This protein has structural similarity to villin. It binds actin and may play a role in
the development of neuronal cells that form ganglia. [provided by RefSeq]

UniProtKB/Swiss-Prot: AVIL_HUMAN, O75366
Function: Ca(2+)-regulated actin-binding protein

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the AVIL gene  

Entrez Gene cytogenetic band: 12q14.1   Ensembl cytogenetic band:  12q14.1   HGNC cytogenetic band: 12q13.11

AVIL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M056477:     (about GC identifiers)

Start:
56,477,704 bp from pter
End:
56,496,119 bp from pter
Size:
18,416 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000012.10  NT_029419.11  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: AVIL_HUMAN, O75366 (See protein sequence)
Recommended Name: Advillin  
Size: 819 amino acids; 92028 Da
Subcellular location: Cytoplasm, cytoskeleton
PDB structures from and Proteopedia :
1UND (3D)    
Secondary accessions: B2RAU7 Q2NKM9
Alternative splicing: 2 isoforms:  O75366-1   O75366-2   

REFSEQ proteins: NP_006567.2  

ENSEMBL proteins: 
ENSP00000257861 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (Advillin)
Human Recombinant Proteins from Abnova (AVIL)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm IEA--
GO:0015629 actin cytoskeleton TAS9664034
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Antibodies for AVIL: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Antibodies from Abcam (Advillin), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for AVIL

Assays for AVIL: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

4 InterPro domains/families:
 IPR015627 Villin
 IPR007122 Gelsolin
 IPR003128 Villin_headpiece
 IPR007123 Gelsoln


   GeneDecks  AVIL for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry O75366

ProtoNet protein and cluster: O75366

3 Blocks protein families:
IPB003128 Villin headpiece
IPB007122 Gelsolin family signature
IPB007123 Gelsolin region


UniProtKB/Swiss-Prot: AVIL_HUMAN, O75366
Similarity: Belongs to the villin/gelsolin family
Similarity: Contains 6 gelsolin-like repeats
Similarity: Contains 1 HP (headpiece) domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AVIL)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006576

              Applied Biosystems Silencer® siRNAs for AVIL

              Sigma-Aldrich siRNA for AVIL  
                     Sigma-Aldrich shRNA for AVIL  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_006576
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_006576
                                 untagged cDNA clone in CMV expression vector: NM_006576 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_006576

UniProtKB/Swiss-Prot: AVIL_HUMAN, O75366
Function: Ca(2+)-regulated actin-binding protein

3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Avil):

lethality-prenatal/perinatallife span-post-weaning/agingnervous system

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003779 actin binding IEA--
GO:0005509 calcium ion binding IEA--
GO:0005515 protein binding IEA--
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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section



5 Interacting proteins for AVIL (ENSP000002578613) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
CSF2ENSP000002968713STRING (score=.877)
CSF3ENSP000002254743STRING (score=.847)
PTGS2ENSP000003564383STRING (score=.846)
CRKENSP000003005743STRING (score=.725)
--ENSP000003684953STRING (score=.845)
About this table

4 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006950 response to stress IEA--
GO:0007010 cytoskeleton organization IEA--
GO:0007399 nervous system development TAS9664034
GO:0051016 barbed-end actin filament capping IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for AVIL

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AVIL)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006576

              Sigma-Aldrich siRNA for AVIL  
                     Sigma-Aldrich shRNA for AVIL  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_006576  

REFSEQ mRNAs for AVIL gene: 

NM_006576.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_006576  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_006576
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_006576
                                 untagged cDNA clone in CMV expression vector: NM_006576 

Additional cDNA sequence: 

AF041449.1 AF318328.1 AK022448.1 AK314362.1 BC111730.1 BX647344.1 

14 DOTS entries:

DT.112342  DT.455328  DT.97868569  DT.121200921  DT.101961055  DT.40250470  DT.421093  DT.211446 
DT.437665  DT.100045490  DT.40256148  DT.40120459  DT.70100979  DT.91737169 

24/66 AceView cDNA sequences (see all 66 ):

BX647344 AI458701 BM713863 BE139483 AI215450 AI288722 F04173 BQ893208 
BM510486 F02365 CA848547 AA410634 AI458294 NM_006576 AI050859 AA427733 
AA534371 AA434298 AW410212 AU122557 AW081692 AK022448 BU617924 AA034150 

highest scoring ESTs for AVIL:

AF041449 AA098885 AI928739 BF309064 BG433816 BI114542 NM_006576 AA034149 AA075612 AA173779 

Unigene Cluster for AVIL:

Advillin
Hs.584854  [show with all ESTs]
Unigene Representative Sequence: BX647344


GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for AVIL

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^
SP1:                                                              -                                         -                             -           -         
SP2:                                                                                                        -                       -     -     -               
SP3:        -                                                                                                                                                   
SP4:                                                                                                                                                            
SP5:                                                                                                                                                  -         

ExUns: 20a · 20b · 20c
SP1:                  
SP2:                  
SP3:                  
SP4:                  
SP5:                  

About this scheme

ECgene alternative splicing isoforms for AVIL

1 Ensembl transcript including schematic representation:
ENST00000257861  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

AVIL expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for AVIL

1 / 2 / 3

7 probe-sets matching AVIL gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

41582_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF041449 1.00 0.90 0.95 1

205539_at2, 3 U133-A 1 1.00 1.00 -- -- NM_006576 0.60 1.00 0.82 1

210507_s_at2, 3 U133-A 1 1.00 1.00 -- -- BC004134 0.20 0.25 0.23 2

233333_x_at2, 3 U133-B 19 1.00 0.84 -- -- AK022448 0.60 0.75 0.68 1

205539_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

210507_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

233333_x_at2 U133Plus2 19 1.00 0.84 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TTCTCCATTT

SOURCE GeneReport for Unigene cluster: Hs.584854

Expression variation in blood from EXPOLDB for AVIL

UniProtKB/Swiss-Prot: AVIL_HUMAN, O75366
Tissue specificity: Most highly expressed in the small intestine and colonic lining. Weaker
expression also detected in the thymus, prostate, testes and uterus

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for AVIL gene from 5/9 species (see all 9 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
AVIL1   -- advillin 88.47(n)
90.57(a)
474420  XM_531652.2  XP_531652.2 
chimpanzee
(Pan troglodytes)
AVIL1   -- advillin 99.39(n)
99.02(a)
452029  XM_509177.2  XP_509177.2 
cow
(Bos taurus)
AVIL1   -- advillin 89.87(n)
90.69(a)
520771  XM_599021.3  XP_599021.3 
mouse
(Mus musculus)
Avil1, 5 105
advillin1, 5 86.69(n)1
89.74(a)1
115671  NM_009635.21  NP_033765.11 
 AF0414485  AF0594865  (see all 14)
chicken
(Gallus gallus)
VILL1   -- villin-like 62.72(n)
59.03(a)
420415  XM_418521.2  XP_418521.2 
About this table        Species with no ortholog for AVIL

ENSEMBL Gene Tree for AVIL
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for AVIL gene
VIL12  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/67 NCBI SNPs in AVIL are shown (see all 67 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 36)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 12 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs111723481,2
C,F,H56497916(+) TCTCTC/TCTTCT 1 -- ng31 trp38Minor allele frequency- T:0.03EU EA WA 838
rs21725211,2
A,C,H56490550(-) GTGCTG/AAAATA 1 K/E mis14Minor allele frequency- A:0.00EU EA WA 418
rs37362851,2
F,H56496996(-) TAAGTG/ATCTGA 1 -- ng315Minor allele frequency- A:0.02EA EU WA 1900
rs37414261,2
H56496029(-) GAGAAT/CAGAGG 1 T/I mis1 ese34Minor allele frequency- C:0.00EU EA WA 420
rs123697221,2
H56497002(+) ACTTAG/AACGTC 1 -- ng314Minor allele frequency- A:0.00EU EA WA 412
rs125823111,2
A,C,F,H56489531(+) agtccA/Gtgtac 1 -- int18Minor allele frequency- G:0.24EU EA WA 838
rs23070971,2
A,C,F,H56482068(+) AAAAGT/CAAAAG 1 -- int15Minor allele frequency- C:0.15EA EU WA 1908
rs22773261,2
C,F,H,O56488686(-) ATCATG/TTGGCT 1 -- int113Minor allele frequency- N:0.00EA NA EU WA 2538
rs107838471,2
A,C,F,H56482714(+) CTTCAG/AGATGT 1 -- int111Minor allele frequency- A:0.47EU EA WA NA 914
rs13893021,2
A,C,F,H56491771(-) CCACTG/AACTGA 1 -- int17Minor allele frequency- A:0.06EA NA WA 446
About this table

HapMap Linkage Disequilibrium images for AVIL (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

  --

(Possibly Related Articles in Doctor's Guide)
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  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/15 PubMed articles for AVIL gene (see all 15 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 10677 HGNC: 14188 AceView: AVIL Ensembl:ENSG00000135407 euGenes: HUgn10677
ECgene: AVIL H-InvDB: AVIL
(According to HUGE)
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  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for AVIL:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for AVIL-related products

 Millipore Custom Antibody & Bulk Services
 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for AVIL Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for AVIL Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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(Advillin)
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 Search Tocris compounds for AVIL




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 Search Novus for antibodies for AVIL

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