UniProt functional annotation for Q96QK1

UniProt code: Q96QK1.

Organism: Homo sapiens (Human).
Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
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). {ECO:0000269|PubMed:15247922, ECO:0000269|PubMed:23395371}.
Subunit: Component of the retromer complex composed of VPS26 (VPS26A or VPS26B), VPS29, VPS35, SNX1 and SNX2. Interacts directly with VPS26A and VPS26B. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35 and SFN. Interacts with GOLPH3. Interacts with MAGEL2; leading to recruitment of the TRIM27:MAGEL2 E3 ubiquitin ligase complex retromer-containing endosomes. Interacts with LRRK2. {ECO:0000269|PubMed:11102511, ECO:0000269|PubMed:15282546, ECO:0000269|PubMed:17891154, ECO:0000269|PubMed:19553991, ECO:0000269|PubMed:23395371, ECO:0000269|PubMed:23452853}.
Subcellular 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.
Disease: 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. {ECO:0000269|PubMed:21763482, ECO:0000269|PubMed:21763483, ECO:0000269|PubMed:22517097}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity: Belongs to the VPS35 family. {ECO:0000305}.
Sequence caution: Sequence=AAG01989.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91137.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14626.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.