Human Gene AVIL (ENST00000257861.7) Description and Page Index
  Description: Homo sapiens advillin (AVIL), mRNA. (from RefSeq NM_006576)
RefSeq Summary (NM_006576): 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, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AF041449.1, SRR1803612.152633.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000257861.7
Gencode Gene: ENSG00000135407.10
Transcript (Including UTRs)
   Position: hg38 chr12:57,797,882-57,816,471 Size: 18,590 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg38 chr12:57,797,882-57,816,040 Size: 18,159 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:57,797,882-57,816,471)mRNA (may differ from genome)Protein (819 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: AVIL_HUMAN
DESCRIPTION: RecName: Full=Advillin; AltName: Full=p92;
FUNCTION: Ca(2+)-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.
SUBUNIT: Associates (via C-terminus) with actin. Interacts with SCARF1 (By similarity). Interacts with F-actin.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell projection (By similarity). Cell projection, axon (By similarity).
TISSUE SPECIFICITY: Most highly expressed in the small intestine and colonic lining. Weaker expression also detected in the thymus, prostate, testes and uterus.
SIMILARITY: Belongs to the villin/gelsolin family.
SIMILARITY: Contains 6 gelsolin-like repeats.
SIMILARITY: Contains 1 HP (headpiece) domain.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.12 RPKM in Brain - Cerebellum
Total median expression: 89.41 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -118.80431-0.276 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007122 - Gelsolin
IPR007123 - Gelsolin_dom
IPR015627 - Villin
IPR003128 - Villin_headpiece

Pfam Domains:
PF00626 - Gelsolin repeat
PF02209 - Villin headpiece domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1UND
- NMR


ModBase Predicted Comparative 3D Structure on O75366
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0051015 actin filament binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0007399 nervous system development
GO:0010976 positive regulation of neuron projection development
GO:0051693 actin filament capping
GO:0060271 cilium assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0015629 actin cytoskeleton
GO:0030424 axon
GO:0042995 cell projection
GO:0043005 neuron projection


-  Descriptions from all associated GenBank mRNAs
  BX647344 - Homo sapiens mRNA; cDNA DKFZp779O1812 (from clone DKFZp779O1812).
AF041449 - Homo sapiens advillin mRNA, complete cds.
BC111730 - Homo sapiens advillin, mRNA (cDNA clone MGC:133244 IMAGE:40035028), complete cds.
AK314362 - Homo sapiens cDNA, FLJ95130, Homo sapiens advillin (AVIL), mRNA.
KJ902143 - Synthetic construct Homo sapiens clone ccsbBroadEn_11537 AVIL gene, encodes complete protein.
AK022448 - Homo sapiens cDNA FLJ12386 fis, clone MAMMA1002622.
BC004134 - Homo sapiens mRNA similar to advillin (cDNA clone IMAGE:2961396).
BC004197 - Homo sapiens mRNA similar to advillin (cDNA clone IMAGE:2961396).
KJ905130 - Synthetic construct Homo sapiens clone ccsbBroadEn_14524 hypothetical protein, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: AVIL_HUMAN, B2RAU7, NM_006576, O75366, Q2NKM9, uc001sqj.1, uc001sqj.2, uc001sqj.3, uc001sqj.4
UCSC ID: uc001sqj.4
RefSeq Accession: NM_006576
Protein: O75366 (aka AVIL_HUMAN)
CCDS: CCDS8959.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.