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AVIL advillin [ Homo sapiens (human) ]

Gene ID: 10677, updated on 3-Oct-2019

Summary

Official Symbol
AVILprovided by HGNC
Official Full Name
advillinprovided by HGNC
Primary source
HGNC:HGNC:14188
See related
Ensembl:ENSG00000135407 MIM:613397
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p92; DOC6; ADVIL; NPHS21
Summary
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]
Expression
Ubiquitous expression in adrenal (RPKM 3.9), appendix (RPKM 2.2) and 25 other tissues See more
Orthologs

Genomic context

See AVIL in Genome Data Viewer
Location:
12q14.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57797376..57818704, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58190415..58210193, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene methyltransferase like 1 Neighboring gene EEF1A lysine methyltransferase 3 Neighboring gene Ts translation elongation factor, mitochondrial Neighboring gene RNA, U6 small nuclear 1083, pseudogene Neighboring gene CTD small phosphatase 2 Neighboring gene microRNA 26a-2 Neighboring gene uncharacterized LOC105369783

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12386, MGC133244, DKFZp779O1812

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin filament capping IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
axon IEA
Inferred from Electronic Annotation
more info
 
cell projection ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 

NCBI Reference Sequences (RefSeq)

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)

  1. NM_006576.3NP_006567.3  advillin

    See identical proteins and their annotated locations for NP_006567.3

    Status: REVIEWED

    Source sequence(s)
    AC025165, AF041449, AK314362, BX647344
    Consensus CDS
    CCDS8959.1
    UniProtKB/Swiss-Prot
    O75366
    Related
    ENSP00000257861.3, ENST00000257861.7
    Conserved Domains (7) summary
    smart00153
    Location:784819
    VHP; Villin headpiece domain
    cd11288
    Location:510600
    gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
    cd11289
    Location:133223
    gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
    cd11290
    Location:7118
    gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
    cd11291
    Location:615712
    gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
    cd11292
    Location:247345
    gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
    cd11293
    Location:389489
    gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    57797376..57818704 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018710.2XP_016874199.1  advillin isoform X1

    UniProtKB/Swiss-Prot
    O75366
    Conserved Domains (7) summary
    smart00153
    Location:784819
    VHP; Villin headpiece domain
    cd11288
    Location:510600
    gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
    cd11289
    Location:133223
    gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
    cd11290
    Location:7118
    gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
    cd11291
    Location:615712
    gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
    cd11292
    Location:247345
    gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
    cd11293
    Location:389489
    gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
  2. XM_017018713.2XP_016874202.1  advillin isoform X2

    Conserved Domains (7) summary
    smart00153
    Location:761796
    VHP; Villin headpiece domain
    cd11288
    Location:487577
    gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
    cd11289
    Location:110200
    gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
    cd11290
    Location:195
    gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
    cd11291
    Location:592689
    gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
    cd11292
    Location:224322
    gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
    cd11293
    Location:366466
    gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
  3. XM_017018712.2XP_016874201.1  advillin isoform X2

    Conserved Domains (7) summary
    smart00153
    Location:761796
    VHP; Villin headpiece domain
    cd11288
    Location:487577
    gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
    cd11289
    Location:110200
    gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
    cd11290
    Location:195
    gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
    cd11291
    Location:592689
    gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
    cd11292
    Location:224322
    gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
    cd11293
    Location:366466
    gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
  4. XM_017018711.2XP_016874200.1  advillin isoform X2

    Conserved Domains (7) summary
    smart00153
    Location:761796
    VHP; Villin headpiece domain
    cd11288
    Location:487577
    gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
    cd11289
    Location:110200
    gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
    cd11290
    Location:195
    gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
    cd11291
    Location:592689
    gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
    cd11292
    Location:224322
    gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
    cd11293
    Location:366466
    gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
  5. XM_024448800.1XP_024304568.1  advillin isoform X2

    Conserved Domains (7) summary
    smart00153
    Location:761796
    VHP; Villin headpiece domain
    cd11288
    Location:487577
    gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
    cd11289
    Location:110200
    gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
    cd11290
    Location:195
    gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
    cd11291
    Location:592689
    gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
    cd11292
    Location:224322
    gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
    cd11293
    Location:366466
    gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
  6. XM_017018715.2XP_016874204.1  advillin isoform X4

  7. XM_017018714.2XP_016874203.1  advillin isoform X3

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