AVIL
entrez
10677
canonical
uniprot
O75366
canonical
ensembl
ENSG00000135407
resolver
ensp
ENSP00000257861
resolver
ensp
ENSP00000449239
resolver
genesymbol
AVIL
resolver
hgnc
HGNC:14188
resolver
uniprot
B2RAU7
resolver
uniprot
Q2NKM9
resolver
uniprot_entry
AVIL_HUMAN
resolver
uniprot_sec
B2RAU7
resolver
uniprot_sec
Q2NKM9
resolver
amino_acid_sequence
MPLTSAFRAVDNDPGIIVWRIEKMELALVPVSAHGNFYEGDCYVILSTRRVASLLSQDIHFWIGKDSSQDEQSCAAIYTTQLDDYLGGSPVQHREVQYHESDTFRGYFKQGIIYKQGGVASGMKHVETNTYDVKRLLHVKGKRNIRATEVEMSWDSFNRGDVFLLDLGKVIIQWNGPESNSGERLKAMLLAKDIRDRERGGRAKIGVIEGDKEAASPELMKVLQDTLGRRSIIKPTVPDEIIDQKQKSTIMLYHISDSAGQLAVTEVATRPLVQDLLNHDDCYILDQSGTKIYVWKGKGATKAEKQAAMSKALGFIKMKSYPSSTNVETVNDGAESAMFKQLFQKWSVKDQTMGLGKTFSIGKIAKVFQDKFDVTLLHTKPEVAAQERMVDDGNGKVEVWRIENLELVPVEYQWYGFFYGGDCYLVLYTYEVNGKPHHILYIWQGRHASQDELAASAYQAVEVDRQFDGAAVQVRVRMGTEPRHFMAIFKGKLVIFEGGTSRKGNAEPDPPVRLFQIHGNDKSNTKAVEVPAFASSLNSNDVFLLRTQAEHYLWYGKGSSGDERAMAKELASLLCDGSENTVAEGQEPAEFWDLLGGKTPYANDKRLQQEILDVQSRLFECSNKTGQFVVTEITDFTQDDLNPTDVMLLDTWDQVFLWIGAEANATEKESALATAQQYLHTHPSGRDPDTPILIIKQGFEPPIFTGWFLAWDPNIWSAGKTYEQLKEELGDAAAIMRITADMKNATLSLNSNDSEPKYYPIAVLLKNQNQELPEDVNPAKKENYLSEQDFVSVFGITRGQFAALPGWKQLQMKKEKGLF
uniprot
proteins
disease_involvement
DISEASE: Nephrotic syndrome 21 (NPHS21) [MIM:618594]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS21 is an autosomal recessive, rapidly progressive, steroid-resistant form characterized by onset of kidney dysfunction in the first year of life. Some patients may have variable extra-renal manifestations. {ECO:0000269|PubMed:29058690}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Ca(2+)-regulated actin-binding protein which plays an important role in actin bundling (PubMed:29058690). 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. In podocytes, controls lamellipodia formation through the regulation of EGF-induced diacylglycerol generation by PLCE1 and ARP2/3 complex assembly (PubMed:29058690). {ECO:0000269|PubMed:20393563, ECO:0000269|PubMed:29058690}.
uniprot
proteins
mass_dalton
92027
uniprot
proteins
mutagenesis
MUTAGEN 62; /note="W->A: Reduces interaction with F-actin."; /evidence="ECO:0000269|PubMed:15096633
uniprot
proteins
protein_family
Villin/gelsolin family
uniprot
proteins
pubmed
12034507
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15096633
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
20393563
uniprot
proteins
pubmed
29058690
uniprot
proteins
pubmed
9664034
uniprot
proteins
sequence_length
819
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:29058690}. Cell projection, lamellipodium {ECO:0000269|PubMed:29058690}. Cell junction, focal adhesion {ECO:0000269|PubMed:29058690}. Cell projection, neuron projection {ECO:0000250|UniProtKB:Q9WU06}. Cell projection, axon {ECO:0000250|UniProtKB:Q9WU06}. Note=In podocytes, present in the F-actin-enriched cell periphery that generates lamellipodia and focal adhesions. {ECO:0000269|PubMed:29058690}.
uniprot
proteins