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Q9Y484 Proteins with WD Repeats

Uniprot ID: Q9Y484	Protein name : WD repeat domain phosphoinositide-interacting protein 4	Gene : WDR45 WDRX1 WDRXI4 WIPI4 JM5
Protein Families : WD repeat SVP1 family	Squence Length : 360

Sequence	>Q9Y484 361 MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISVLIWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDTRDNPKGLCDLCPSLEKQLLVFPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDTQSKEKLVELRRGTDPATLYCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARVGKVGPMIGQYVDSQWSLASFTVPAESACICAFGRNTSKNVNSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF
Repeat regions	REPEAT 1 34 WD 1 REPEAT 40 84 WD 2 REPEAT 92 128 WD 3 REPEAT 133 174 WD 4 REPEAT 183 222 WD 5 REPEAT 227 266 WD 6 REPEAT 284 329 WD 7
Sequence region of repeats	1- 34 QQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEP 40- 84 HLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISVLIWDDAR 92- 128 KLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPD 133- 174 LFEFDTRDNPKGLCDLCPSLEKQLLVFPGHKCGSLQLVDLAS 183- 222 PFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDTQS 227- 266 VELRRGTDPATLYCINFSHDSSFLCASSDKGTVHIFALKD 284- 329 MIGQYVDSQWSLASFTVPAESACICAFGRNTSKNVNSVIAICVDGT
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"
Disease	"DISEASE: 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 Note=The disease is caused by mutations affecting the gene represented in this entry"