RBCC Red Blood Cell Collection

WIPI4_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: WDR45 , WDRX1, WDRXI4, WIPI4 , JM5
Protein names and data: WIPI4_HUMAN , WD repeat domain phosphoinositide-interacting protein 4; WIPI-4 , WD repeat-containing protein 45 Lenght: 360 a.a.
Mass: 39868 Da
fasta formatted sequence
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: ( OMIM: 300526 300894 ) 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.
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.

Database cross-references

UniProt: Q9Y484
Ensembl: ENST00000322995
Ensembl: ENST00000356463
Ensembl: ENST00000376368
Ensembl: ENST00000376372
MIM: 300526
MIM: 300894
neXtProt: NX_Q9Y484
Antibodypedia: Q9Y484 (may not find the protein thus also not any antibody)
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