DCAF8
entrez
50717
canonical
uniprot
Q5TAQ9
canonical
ensembl
ENSG00000132716
resolver
ensp
ENSP00000357053
resolver
genesymbol
DCAF8
resolver
genesymbol_syn
H326
resolver
genesymbol_syn
WDR42A
resolver
hgnc
HGNC:24891
resolver
uniprot
B7Z8C9
resolver
uniprot
D3DVE6
resolver
uniprot
Q12839
resolver
uniprot
Q4QQI6
resolver
uniprot
Q53F14
resolver
uniprot
Q66K50
resolver
uniprot
Q68CS7
resolver
uniprot
Q96E00
resolver
uniprot_entry
B7Z8C9_HUMAN
resolver
uniprot_entry
DCAF8_HUMAN
resolver
uniprot_sec
D3DVE6
resolver
uniprot_sec
Q12839
resolver
uniprot_sec
Q4QQI6
resolver
uniprot_sec
Q53F14
resolver
uniprot_sec
Q66K50
resolver
uniprot_sec
Q68CS7
resolver
uniprot_sec
Q96E00
resolver
amino_acid_sequence
MSSKGSSTDGRTDLANGSLSSSPEEMSGAEEGRETSSGIEVEASDLSLSLTGDDGGPNRTSTESRGTDTESSGEDKDSDSMEDTGHYSINDENRVHDRSEEEEEEEEEEEEEQPRRRVQRKRANRDQDSSDDERALEDWVSSETSALPRPRWQALPALRERELGSSARFVYEACGARVFVQRFRLQHGLEGHTGCVNTLHFNQRGTWLASGSDDLKVVVWDWVRRQPVLDFESGHKSNVFQAKFLPNSGDSTLAMCARDGQVRVAELSATQCCKNTKRVAQHKGASHKLALEPDSPCTFLSAGEDAVVFTIDLRQDRPASKLVVTKEKEKKVGLYTIYVNPANTHQFAVGGRDQFVRIYDQRKIDENENNGVLKKFCPHHLVNSESKANITCLVYSHDGTELLASYNDEDIYLFNSSHSDGAQYVKRYKGHRNNATVKGVNFYGPKSEFVVSGSDCGHIFLWEKSSCQIIQFMEGDKGGVVNCLEPHPHLPVLATSGLDHDVKIWAPTAEASTELTGLKDVIKKNKRERDEDSLHQTDLFDSHMLWFLMHHLRQRRHHRRWREPGVGATDADSDESPSSSDTSDEEEGPDRVQCMPS
uniprot
proteins
disease_involvement
DISEASE: Giant axonal neuropathy 2, autosomal dominant (GAN2) [MIM:610100]: An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation. {ECO:0000269|PubMed:24500646}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:16949367, ECO:0000269|PubMed:16964240}.
uniprot
proteins
mass_dalton
66852
uniprot
proteins
mutagenesis
MUTAGEN 39..50; /note="IEVEASDLSLSL->AEVEASDASASA: Abrogates cytoplasmic localization."; /evidence="ECO:0000269|PubMed:22500989"; MUTAGEN 115..122; /note="RRRVQRKR->AAAVQAKA: Abrogates nuclear localization."; /evidence="ECO:0000269|PubMed:22500989"; MUTAGEN 314; /note="R->A: Reduces association with DDB1."; /evidence="ECO:0000269|PubMed:16949367"; MUTAGEN 362; /note="R->A: Reduces association with DDB1."; /evidence="ECO:0000269|PubMed:16949367
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
protein_family
WD repeat DCAF8 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16949367
uniprot
proteins
pubmed
16964240
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
22500989
uniprot
proteins
pubmed
23455924
uniprot
proteins
pubmed
24500646
uniprot
proteins
sequence_length
597
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22500989}. Cytoplasm {ECO:0000269|PubMed:22500989}. Note=It shuttles between the nucleus and the cytoplasm. Nuclear import is mediated by KPNA1 and KPNB1 under the regulation of nuclear GTPase RAN. Nuclear export to the cytoplasm is XPO1 dependent. {ECO:0000269|PubMed:22500989}.
uniprot
proteins