Avil advillin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Avilprovided by MGI
Official Full Name: advillinprovided by MGI
Primary source: MGI:MGI:1333798
See related: Ensembl:ENSMUSG00000025432 AllianceGenome:MGI:1333798
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DOC6; Advil
Summary: Predicted to enable Arp2/3 complex binding activity; actin filament binding activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in positive regulation of neuron projection development. Predicted to be located in several cellular components, including actin filament; focal adhesion; and lamellipodium. Predicted to be active in actin cytoskeleton and cytoplasm. Is expressed in several structures, including eye; forelimb; nervous system; skin; and tongue papillae. Human ortholog(s) of this gene implicated in nephrotic syndrome type 21. Orthologous to human AVIL (advillin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in stomach adult (RPKM 6.0), small intestine adult (RPKM 1.4) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 D3; 10 74.48 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (126835933..126856857)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (127000065..127020994)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Oxytocin receptor disruption in Avil-expressing cells results in blunted sociability and increased inter-male aggression.
Title: Oxytocin receptor disruption in Avil-expressing cells results in blunted sociability and increased inter-male aggression.
Advillin is a tuft cell marker in the mouse alimentary tract.
Title: Advillin is a tuft cell marker in the mouse alimentary tract.
Mouse intestinal tuft cells express advillin but not villin.
Title: Mouse intestinal tuft cells express advillin but not villin.
Advillin is expressed in all adult neural crest-derived neurons
Title: Advillin Is Expressed in All Adult Neural Crest-Derived Neurons.
study highlights a role for advillin in growth cone formation, axon regeneration, and neuropathic pain associated with IB4(+) DRG neurons in adulthood.
Title: Involvement of advillin in somatosensory neuron subtype-specific axon regeneration and neuropathic pain.
This study found that the regenerative axon growth of Advillin-null sensory neurons is significantly shortened and that deletion of Advillin reduces the plasticity of whisker-related barrelettes patterns in the hindbrain.
Title: Analyzing somatosensory axon projections with the sensory neuron-specific Advillin gene.
interaction of SREC-I and advillin are involved in the development of dorsal root ganglion neurons by inducing the described morphological changes.
Title: Type F scavenger receptor SREC-I interacts with advillin, a member of the gelsolin/villin family, and induces neurite-like outgrowth.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126584 (e-PCR)
- UniSTS:167036

Avil (e-PCR), detects polymorphism
- UniSTS:531325

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables Arp2/3 complex binding	ISO Inferred from Sequence Orthology more info
enables Arp2/3 complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables actin binding	ISO Inferred from Sequence Orthology more info
enables actin binding	ISS Inferred from Sequence or Structural Similarity more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-4,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament capping	IEA Inferred from Electronic Annotation more info
involved_in actin filament organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within actin filament organization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in actin filament organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin filament severing	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin polymerization or depolymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in barbed-end actin filament capping	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lamellipodium assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lamellipodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in regulation of diacylglycerol biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of diacylglycerol biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in actin filament	ISO Inferred from Sequence Orthology more info
located_in actin filament	ISS Inferred from Sequence or Structural Similarity more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in cell projection	ISO Inferred from Sequence Orthology more info
located_in cell projection	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
located_in focal adhesion	ISS Inferred from Sequence or Structural Similarity more info
located_in lamellipodium	ISO Inferred from Sequence Orthology more info
located_in lamellipodium	ISS Inferred from Sequence or Structural Similarity more info
located_in neuron projection	ISO Inferred from Sequence Orthology more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: advillin

Names: actin-binding protein DOC6; p92

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001402490.1 → NP_001389419.1 advillin

Status: VALIDATED

Source sequence(s)

AC134329

UniProtKB/Swiss-Prot

O70466, O88398, Q3U1K5
NM_009635.4 → NP_033765.2 advillin

See identical proteins and their annotated locations for NP_033765.2

Status: VALIDATED

Source sequence(s)

AC134329

Consensus CDS

CCDS24221.1

UniProtKB/Swiss-Prot

O70466, O88398, Q3U1K5

UniProtKB/TrEMBL

Q0VEI6, Q3TBC5

Related

ENSMUSP00000026500.6, ENSMUST00000026500.12

Conserved Domains (7) summary

cd11288
Location:510 → 599

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11289
Location:133 → 223

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:7 → 118

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:617 → 712

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:247 → 345

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd11293
Location:389 → 489

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins

pfam02209
Location:785 → 819

VHP; Villin headpiece domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

126835933..126856857

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036155518.1 → XP_036011411.1 advillin isoform X2

UniProtKB/TrEMBL

Q0VEI6, Q3TBC5

Conserved Domains (7) summary

cd11288
Location:540 → 629

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11289
Location:133 → 253

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:7 → 118

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:647 → 742

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:277 → 375

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd11293
Location:419 → 519

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins

pfam02209
Location:814 → 848

VHP; Villin headpiece domain
XM_036155517.1 → XP_036011410.1 advillin isoform X3

UniProtKB/TrEMBL

Q0VEI6, Q3TBC5

Conserved Domains (7) summary

cd11288
Location:539 → 628

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11289
Location:162 → 252

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:36 → 147

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:646 → 741

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:276 → 374

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd11293
Location:418 → 518

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins

pfam02209
Location:813 → 847

VHP; Villin headpiece domain
XM_036155516.1 → XP_036011409.1 advillin isoform X2

UniProtKB/TrEMBL

Q0VEI6, Q3TBC5

Conserved Domains (7) summary

cd11288
Location:540 → 629

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11289
Location:133 → 253

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:7 → 118

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:647 → 742

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:277 → 375

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd11293
Location:419 → 519

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins

pfam02209
Location:814 → 848

VHP; Villin headpiece domain
XM_006513098.3 → XP_006513161.1 advillin isoform X1

See identical proteins and their annotated locations for XP_006513161.1

UniProtKB/TrEMBL

Q0VEI6, Q3TBC5

Conserved Domains (7) summary

smart00153
Location:843 → 878

VHP; Villin headpiece domain

cd11288
Location:569 → 658

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11289
Location:162 → 282

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:36 → 147

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:676 → 771

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:306 → 404

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd11293
Location:448 → 548

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
XM_006513100.3 → XP_006513163.1 advillin isoform X2

See identical proteins and their annotated locations for XP_006513163.1

UniProtKB/TrEMBL

Q0VEI6, Q3TBC5

Conserved Domains (7) summary

cd11288
Location:540 → 629

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11289
Location:133 → 253

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:7 → 118

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:647 → 742

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:277 → 375

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd11293
Location:419 → 519

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins

pfam02209
Location:814 → 848

VHP; Villin headpiece domain
XM_006513101.4 → XP_006513164.1 advillin isoform X2

See identical proteins and their annotated locations for XP_006513164.1

UniProtKB/TrEMBL

Q0VEI6, Q3TBC5

Conserved Domains (7) summary

cd11288
Location:540 → 629

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11289
Location:133 → 253

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:7 → 118

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:647 → 742

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:277 → 375

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd11293
Location:419 → 519

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins

pfam02209
Location:814 → 848

VHP; Villin headpiece domain