ANAPC7
entrez
51434
canonical
uniprot
Q9UJX3
canonical
ensembl
ENSG00000196510
resolver
ensp
ENSP00000394394
resolver
ensp
ENSP00000402314
resolver
ensp
ENSP00000631613
resolver
genesymbol
ANAPC7
resolver
genesymbol_syn
APC7
resolver
hgnc
HGNC:17380
resolver
uniprot
Q4KMX6
resolver
uniprot
Q96AC4
resolver
uniprot
Q96GF4
resolver
uniprot
Q9BU24
resolver
uniprot
Q9NT16
resolver
uniprot_entry
APC7_HUMAN
resolver
uniprot_entry
Q4KMX6_HUMAN
resolver
uniprot_sec
Q96AC4
resolver
uniprot_sec
Q96GF4
resolver
uniprot_sec
Q9BU24
resolver
uniprot_sec
Q9NT16
resolver
amino_acid_sequence
MNVIDHVRDMAAAGLHSNVRLLSSLLLTMSNNNPELFSPPQKYQLLVYHADSLFHDKEYRNAVSKYTMALQQKKALSKTSKVRPSTGNSASTPQSQCLPSEIEVKYKMAECYTMLKQDKDAIAILDGIPSRQRTPKINMMLANLYKKAGQERPSVTSYKEVLRQCPLALDAILGLLSLSVKGAEVASMTMNVIQTVPNLDWLSVWIKAYAFVHTGDNSRAISTICSLEKKSLLRDNVDLLGSLADLYFRAGDNKNSVLKFEQAQMLDPYLIKGMDVYGYLLAREGRLEDVENLGCRLFNISDQHAEPWVVSGCHSFYSKRYSRALYLGAKAIQLNSNSVQALLLKGAALRNMGRVQEAIIHFREAIRLAPCRLDCYEGLIECYLASNSIREAMVMANNVYKTLGANAQTLTLLATVCLEDPVTQEKAKTLLDKALTQRPDYIKAVVKKAELLSREQKYEDGIALLRNALANQSDCVLHRILGDFLVAVNEYQEAMDQYSIALSLDPNDQKSLEGMQKMEKEESPTDATQEEDVDDMEGSGEEGDLEGSDSEAAQWADQEQWFGMQ
uniprot
proteins
disease_involvement
DISEASE: Ferguson-Bonni neurodevelopmental syndrome (FERBON) [MIM:619699]: An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay. Additional features may include dysmorphic facies, mild skeletal abnormalities, and hearing loss. {ECO:0000269|PubMed:34942119}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through the cell cycle (PubMed:18485873, PubMed:27120157, PubMed:27509861). APC/C acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (PubMed:18485873). APC/C catalyzes assembly of branched 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on target proteins (PubMed:29033132). APC/C is activated by CDC20 in the metaphase/anaphase transition of cell cycle, targeting the degradation of cyclin B and securin (PubMed:27120157, PubMed:27509861). APC/C is regulated by the mitotic checkpoint complex (MCC), which inhibits APC/C and delays chromosome segregation (PubMed:27509861). Has an enzyme-substrate adapter activity mediating the processive ubiquitination of specific substrates (PubMed:34942119). Involved in brain development through the specific ubiquitination and clearance of MKI67 from constitutive heterochromatin after neuronal progenitors exit mitosis (PubMed:34942119). {ECO:0000269|PubMed:18485873, ECO:0000269|PubMed:27120157, ECO:0000269|PubMed:27509861, ECO:0000269|PubMed:29033132, ECO:0000269|PubMed:34942119}.
uniprot
proteins
mass_dalton
63133
uniprot
proteins
mutagenesis
MUTAGEN 22; /note="L->R: Loss of homodimerization; when associated with K-26."; /evidence="ECO:0000269|PubMed:19091741"; MUTAGEN 26; /note="L->K: Loss of homodimerization; when associated with R-22."; /evidence="ECO:0000269|PubMed:19091741
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:29033132}.
uniprot
proteins
protein_family
APC7 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16364912
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18445686
uniprot
proteins
pubmed
18485873
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19091741
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25043029
uniprot
proteins
pubmed
26083744
uniprot
proteins
pubmed
27120157
uniprot
proteins
pubmed
27509861
uniprot
proteins
pubmed
29033132
uniprot
proteins
pubmed
34942119
uniprot
proteins
pubmed
9469815
uniprot
proteins
sequence_length
565
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:18445686}. Nucleus {ECO:0000269|PubMed:18445686}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:18445686}. Note=Localizes to spindle during metaphase and to cytoplasmic microtubules during interphase. {ECO:0000269|PubMed:18445686}.
uniprot
proteins