FBXO28
entrez
23219
canonical
uniprot
Q9NVF7
canonical
ensembl
ENSG00000143756
resolver
ensp
ENSP00000355827
resolver
ensp
ENSP00000416888
resolver
genesymbol
FBXO28
resolver
genesymbol_syn
CENP-30
resolver
genesymbol_syn
KIAA0483
resolver
hgnc
HGNC:29046
resolver
uniprot
E9PEM8
resolver
uniprot
O75070
resolver
uniprot_entry
FBX28_HUMAN
resolver
uniprot_sec
E9PEM8
resolver
uniprot_sec
O75070
resolver
amino_acid_sequence
MAAAAEERMAEEGGGGQGDGGSSLASGSTQRQPPPPAPQHPQPGSQALPAPALAPDQLPQNNTLVALPIVAIENILSFMSYDEISQLRLVCKRMDLVCQRMLNQGFLKVERYHNLCQKQVKAQLPRRESERRNHSLARHADILAAVETRLSLLNMTFMKYVDSNLCCFIPGKVIDEIYRVLRYVNSTRAPQRAHEVLQELRDISSMAMEYFDEKIVPILKRKLPGSDVSGRLMGSPPVPGPSAALTTMQLFSKQNPSRQEVTKLQQQVKTNGAGVTVLRREISELRTKVQEQQKQLQDQDQKLLEQTQIIGEQNARLAELERKLREVMESAVGNSSGSGQNEESPRKRKKATEAIDSLRKSKRLRNRK
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 100 (DEE100) [MIM:619777]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE100 is an autosomal dominant, severe form characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. {ECO:0000269|PubMed:33280099}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex, promoting ubiquitination and proteasomal degradation of specific target proteins including TOP2A, RAB27A or itself (PubMed:27754753, PubMed:31678254). Regulates topoisomerase IIalpha/TOP2A decatenation activity and plays an important role in maintaining genomic stability (PubMed:27754753). Plays a role in lipid metabolism and inflammation through the ubiquitinated degradation of RAB27A (By similarity). Strongly regulates beta-cell survival without having any significant independent effect on insulin secretion (PubMed:29587369). Plays an essential role in spindle morphology and actin-based spindle migration probably through the ARPC2/ARP3 signaling pathway (By similarity). {ECO:0000250|UniProtKB:Q8BIG4, ECO:0000269|PubMed:27754753, ECO:0000269|PubMed:29587369, ECO:0000269|PubMed:31678254}.
uniprot
proteins
mass_dalton
41149
uniprot
proteins
post_translational_modification
PTM: Degraded through self-ubiquitination. {ECO:0000269|PubMed:31678254}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20813266
uniprot
proteins
pubmed
21248752
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27754753
uniprot
proteins
pubmed
29587369
uniprot
proteins
pubmed
31678254
uniprot
proteins
pubmed
33280099
uniprot
proteins
pubmed
9455484
uniprot
proteins
sequence_length
368
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266}. Nucleus {ECO:0000269|PubMed:27754753}. Chromosome {ECO:0000250|UniProtKB:Q8BIG4}. Note=Localizes in the vicinity of mitotic chromosomes during mitosis. {ECO:0000269|PubMed:27754753}.
uniprot
proteins