InnateDB Protein
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IDBP-65375.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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WDR45
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Protein Name
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WD repeat domain 45
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Synonyms
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NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000365551
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InnateDB Gene
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IDBG-65371 (WDR45)
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Protein Structure
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Function |
Plays an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. {ECO:0000269PubMed:23435086}.
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Subcellular Localization |
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Disease Associations |
Neurodegeneration with brain iron accumulation 5 (NBIA5) [MIM:300894]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. {ECO:0000269PubMed:23435086}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitously expressed, with high expression in skeletal muscle and heart. Weakly expressed in liver and placenta. Expression is down-regulated in pancreatic and in kidney tumors. {ECO:0000269PubMed:15602573}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
12
[view]
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Protein-Protein |
12
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001680
WD40 repeat
IPR017986
WD40-repeat-containing domain
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PFAM |
PF00400
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PRINTS |
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PIRSF |
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SMART |
SM00320
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y484
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PhosphoSite |
PhosphoSite-Q9Y484
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TrEMBL |
C9J7Q8
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UniProt Splice Variant |
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Entrez Gene |
11152
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UniGene |
Hs.632807
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RefSeq |
NP_001025067
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HUGO |
HGNC:28912
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OMIM |
300526
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CCDS |
CCDS35250
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HPRD |
06597
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IMGT |
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EMBL |
AF196779
AJ005897
AY691428
BC000464
BC003037
BC009027
BC069206
CH471224
CR456725
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GenPept |
AAH00464
AAH03037
AAH09027
AAH69206
AAV80764
CAA06754
CAG33006
EAW50695
EAW50697
EAW50699
EAW50700
EAW50701
EAW50702
EAW50703
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