InnateDB Protein
|
IDBP-74900.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
DCAF17
|
Protein Name
|
DDB1 and CUL4 associated factor 17
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000364404
|
InnateDB Gene
|
IDBG-74898 (DCAF17)
|
Protein Structure
|
|
Function |
May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. {ECO:0000269PubMed:16949367}.
|
Subcellular Localization |
Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Nucleus, nucleolus {ECO:0000269PubMed:19026396}. Note=According to PubMed:19026396, it is a nucleolar protein, while sequence analysis programs clearly predict 2 transmembrane regions.
|
Disease Associations |
Woodhouse-Sakati syndrome (WoSaS) [MIM:241080]: Rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. {ECO:0000269PubMed:19026396}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Ubiquitously expressed. {ECO:0000269PubMed:19026396}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
|
Protein-Protein |
8
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
|
PFAM |
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q5H9S7
|
PhosphoSite |
PhosphoSite-Q5H9S7
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
80067
|
UniGene |
Hs.659439
|
RefSeq |
NP_079276
|
HUGO |
HGNC:25784
|
OMIM |
612515
|
CCDS |
CCDS2243
|
HPRD |
08579
|
IMGT |
|
EMBL |
AC007969
AK023158
BC120957
BC140843
CH471058
CR933646
|
GenPept |
AAI20958
AAI40844
AAY14729
BAB14436
CAI45947
EAX11213
|
|
|