RBCC Red Blood Cell Collection

VPS35_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: VPS35 , MEM3 , TCCCTA00141
Protein names and data: VPS35_HUMAN , Vacuolar protein sorting-associated protein 35; hVPS35 , Maternal-embryonic 3; Vesicle protein sorting 35 Lenght: 796 a.a.
Mass: 91707 Da
fasta formatted sequence
Function: Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors (IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA).
Disease: ( OMIM: 601501 614203 ) Parkinson disease 17 (PARK17) [MIM:614203]: An autosomal dominant, adult-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Membrane; Peripheral membrane protein.
Tissue specificity: Ubiquitous. Highly expressed in heart, brain, placenta, skeletal muscle, spleen, thymus, testis, ovary, small intestine, kidney and colon.

Genetic variants

51 - 51 G -> S. VAR_066653
57 - 57 M -> I. VAR_066654
82 - 82 T -> R. VAR_066655
241 - 241 I -> M (found in a patient with Parkinson disease). VAR_066656
316 - 316 P -> S (found in a patient with Parkinson disease). VAR_066657
524 - 524 R -> W (found in a patient with Parkinson disease). VAR_066658
602 - 602 V -> D (in dbSNP:rs34687100). VAR_054046 34687100
620 - 620 D -> N (in PARK17). VAR_066659
737 - 737 A -> V. VAR_066660
774 - 774 L -> M. VAR_066661

Database cross-references

UniProt: Q96QK1
Ensembl: ENST00000299138
MIM: 601501
MIM: 614203
neXtProt: NX_Q96QK1
Antibodypedia: Q96QK1 (may not find the protein thus also not any antibody)
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