FLII
entrez
2314
canonical
uniprot
Q13045
canonical
ensembl
ENSG00000177731
resolver
ensembl
ENSG00000284571
resolver
ensp
ENSP00000324573
resolver
ensp
ENSP00000438536
resolver
ensp
ENSP00000463534
resolver
ensp
ENSP00000525863
resolver
ensp
ENSP00000630163
resolver
ensp
ENSP00000630169
resolver
genesymbol
FLII
resolver
genesymbol_syn
FLIL
resolver
hgnc
HGNC:3750
resolver
uniprot
B4DIL0
resolver
uniprot
F5H407
resolver
uniprot
J3QLG3
resolver
uniprot_entry
FLII_HUMAN
resolver
uniprot_sec
B4DIL0
resolver
uniprot_sec
F5H407
resolver
uniprot_sec
J3QLG3
resolver
amino_acid_sequence
MEATGVLPFVRGVDLSGNDFKGGYFPENVKAMTSLRWLKLNRTGLCYLPEELAALQKLEHLSVSHNNLTTLHGELSSLPSLRAIVARANSLKNSGVPDDIFKLDDLSVLDLSHNQLTECPRELENAKNMLVLNLSHNSIDTIPNQLFINLTDLLYLDLSENRLESLPPQMRRLVHLQTLVLNGNPLLHAQLRQLPAMTALQTLHLRSTQRTQSNLPTSLEGLSNLADVDLSCNDLTRVPECLYTLPSLRRLNLSSNQITELSLCIDQWVHVETLNLSRNQLTSLPSAICKLSKLKKLYLNSNKLDFDGLPSGIGKLTNLEEFMAANNNLELVPESLCRCPKLRKLVLNKNHLVTLPEAIHFLTEIEVLDVRENPNLVMPPKPADRAAEWYNIDFSLQNQLRLAGASPATVAAAAAAGSGPKDPMARKMRLRRRKDSAQDDQAKQVLKGMSDVAQEKNKKQEESADARAPSGKVRRWDQGLEKPRLDYSEFFTEDVGQLPGLTIWQIENFVPVLVEEAFHGKFYEADCYIVLKTFLDDSGSLNWEIYYWIGGEATLDKKACSAIHAVNLRNYLGAECRTVREEMGDESEEFLQVFDNDISYIEGGTASGFYTVEDTHYVTRMYRVYGKKNIKLEPVPLKGTSLDPRFVFLLDRGLDIYVWRGAQATLSSTTKARLFAEKINKNERKGKAEITLLVQGQELPEFWEALGGEPSEIKKHVPEDFWPPQPKLYKVGLGLGYLELPQINYKLSVEHKQRPKVELMPRMRLLQSLLDTRCVYILDCWSDVFIWLGRKSPRLVRAAALKLGQELCGMLHRPRHATVSRSLEGTEAQVFKAKFKNWDDVLTVDYTRNAEAVLQSPGLSGKVKRDAEKKDQMKADLTALFLPRQPPMSLAEAEQLMEEWNEDLDGMEGFVLEGKKFARLPEEEFGHFYTQDCYVFLCRYWVPVEYEEEEKKEDKEEKAEGKEGEEATAEAEEKQPEEDFQCIVYFWQGREASNMGWLTFTFSLQKKFESLFPGKLEVVRMTQQQENPKFLSHFKRKFIIHRGKRKAVQGAQQPSLYQIRTNGSALCTRCIQINTDSSLLNSEFCFILKVPFESEDNQGIVYAWVGRASDPDEAKLAEDILNTMFDTSYSKQVINEGEEPENFFWVGIGAQKPYDDDAEYMKHTRLFRCSNEKGYFAVTEKCSDFCQDDLADDDIMLLDNGQEVYMWVGTQTSQVEIKLSLKACQVYIQHMRSKEHERPRRLRLVRKGNEQHAFTRCFHAWSAFCKALA
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, dilated, 2J (CMD2J) [MIM:620635]: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2J is an autosomal recessive form characterized by onset of heart failure within the first year of life. {ECO:0000269|PubMed:32870709, ECO:0000269|PubMed:37561591}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Is a regulator of actin polymerization, required for proper myofibril organization and regulation of the length of sarcomeric thin filaments (By similarity). It also plays a role in the assembly of cardiomyocyte cell adhesion complexes (By similarity). Regulates cytoskeletal rearrangements involved in cytokinesis and cell migration, by inhibiting Rac1-dependent paxillin phosphorylation (By similarity). May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and acts in cooperation with NCOA2 and CARM1 (PubMed:14966289). Involved in estrogen hormone signaling. {ECO:0000250|UniProtKB:Q9JJ28, ECO:0000269|PubMed:14966289}.
uniprot
proteins
mass_dalton
144751
uniprot
proteins
mutagenesis
MUTAGEN 586; /note="E->K: No change in ESR1 binding but reduced binding to ACTL6A and reduced coactivator function."; /evidence="ECO:0000269|PubMed:14966289"; MUTAGEN 603; /note="G->S: No change in binding to ACTL6A or in coactivator function."; /evidence="ECO:0000269|PubMed:14966289
uniprot
proteins
pubmed
10366446
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14966289
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19265123
uniprot
proteins
pubmed
19293151
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
32870709
uniprot
proteins
pubmed
37126682
uniprot
proteins
pubmed
37561591
uniprot
proteins
pubmed
8248259
uniprot
proteins
pubmed
9177775
uniprot
proteins
pubmed
9525888
uniprot
proteins
pubmed
9671805
uniprot
proteins
sequence_length
1269
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9JJ28}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9JJ28}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q9JJ28}. Cell projection, podosome {ECO:0000250|UniProtKB:Q9JJ28}. Cell junction, focal adhesion {ECO:0000250|UniProtKB:Q9JJ28}. Note=Colocalizes to actin-rich structures in blastocysts and, together with HRAS, RHOA and CDC42, in migrating fibroblasts. Localizes to centrosomes (By similarity). Localized to the core of macrophage podosomes (By similarity). {ECO:0000250|UniProtKB:Q9JJ28}.
uniprot
proteins