ACTN4
entrez
81
canonical
uniprot
O43707
canonical
ensembl
ENSG00000130402
resolver
ensembl
ENSG00000282844
resolver
ensp
ENSP00000252699
resolver
ensp
ENSP00000398393
resolver
ensp
ENSP00000411187
resolver
ensp
ENSP00000541383
resolver
ensp
ENSP00000541385
resolver
ensp
ENSP00000594428
resolver
enst
ENST00000424234
resolver
enst
ENST00000440400
resolver
genesymbol
ACTN4
resolver
hgnc
HGNC:166
resolver
uniprot
A0A0S2Z3G9
resolver
uniprot
A4K467
resolver
uniprot
D6PXK4
resolver
uniprot
F5GXS2
resolver
uniprot
H7C144
resolver
uniprot
O76048
resolver
uniprot_entry
A0A0S2Z3G9_HUMAN
resolver
uniprot_entry
ACTN4_HUMAN
resolver
uniprot_entry
F5GXS2_HUMAN
resolver
uniprot_entry
H7C144_HUMAN
resolver
uniprot_sec
A4K467
resolver
uniprot_sec
D6PXK4
resolver
uniprot_sec
O76048
resolver
amino_acid_sequence
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEVISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLKHRDYETATLSDIKALIRKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSHNVNTRCQKICDQWDALGSLTHSRREALEKTEKQLEAIDQLHLEYAKRAAPFNNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAESNHIKLSGSNPYTTVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANVVGPWIQTKMEEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKDHGGALGPEEFKACLISLGYDVENDRQGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETTDTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKSFSTALYGESDL
uniprot
proteins
disease_involvement
DISEASE: Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269|PubMed:10700177, ECO:0000269|PubMed:18164029, ECO:0000269|PubMed:18436095, ECO:0000269|PubMed:22351778, ECO:0000269|PubMed:22732337, ECO:0000269|PubMed:23014460, ECO:0000269|PubMed:23890478}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778). Association with IGSF8 regulates the immune synapse formation and is required for efficient T-cell activation (PubMed:22689882). {ECO:0000250|UniProtKB:P57780, ECO:0000269|PubMed:15772161, ECO:0000269|PubMed:22351778, ECO:0000269|PubMed:22689882, ECO:0000305|PubMed:9508771}.
uniprot
proteins
mass_dalton
104854
uniprot
proteins
mutagenesis
MUTAGEN 87..88; /note="LL->AA: Reduced interaction with RARA. Loss of the transcriptional coac tivator activity toward RARA."; /evidence="ECO:0000269|PubMed:22351778
uniprot
proteins
protein_family
Alpha-actinin family
uniprot
proteins
pubmed
10656685
uniprot
proteins
pubmed
10700177
uniprot
proteins
pubmed
12042308
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772161
uniprot
proteins
pubmed
15988023
uniprot
proteins
pubmed
16344560
uniprot
proteins
pubmed
17289661
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18164029
uniprot
proteins
pubmed
18436095
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22351778
uniprot
proteins
pubmed
22567897
uniprot
proteins
pubmed
22689882
uniprot
proteins
pubmed
22732337
uniprot
proteins
pubmed
23014460
uniprot
proteins
pubmed
23890478
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
33228246
uniprot
proteins
pubmed
9508771
uniprot
proteins
sequence_length
911
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22351778, ECO:0000269|PubMed:9508771}. Cytoplasm {ECO:0000269|PubMed:22351778, ECO:0000269|PubMed:9508771}. Cell junction {ECO:0000250|UniProtKB:P57780}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:9508771}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:P57780}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Expressed in the perinuclear rim and manchette structure in early elongating spermatids during spermiogenesis (By similarity). Nuclear translocation can be induced by the PI3 kinase inhibitor wortmannin or by cytochalasin D. Exclusively localized in the nucleus in a limited number of cell lines (breast cancer cell line MCF-7, oral floor cancer IMC-2, and bladder cancer KU-7). {ECO:0000250|UniProtKB:P57780, ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:9508771}.
uniprot
proteins