Vacuolar protein sorting-associated protein 13D (VPS13D)
The protein contains 4388 amino acids for an estimated molecular weight of 491916 Da.
Functions in promoting mitochondrial clearance by mitochondrial autophagy (mitophagy), also possibly by positively regulating mitochondrial fission (PubMed:29307555, PubMed:29604224). Mitophagy plays an important role in regulating cell health and mitochondrial size and homeostasis. (updated: May 8, 2019)
Protein identification was indicated in the following studies:
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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No binding partner found
Biological Process
Mitochondrion organization
Positive regulation of mitophagy
Protein retention in Golgi apparatus
Protein targeting to vacuole
Molecular Function
The reference OMIM entry for this protein is 607317
Spinocerebellar ataxia, autosomal recessive 4; scar4
Spinocerebellar ataxia with saccadic intrusions; scasi
Spinocerebellar ataxia 24, formerly; sca24, formerly
CLINICAL FEATURES
Swartz et al. (2002) reported a family of Slovenian descent in which 5 of 14 sibs presented with progressive ataxia beginning in the third decade with gait unsteadiness and difficulty reading. All patients eventually showed gait, trunk, and limb ataxia, as well as pyramidal tract signs with increased reflexes and extensor plantar responses. Also present were myoclonic jerks, fasciculations, impaired joint position sense, cerebellar dysarthria, and mild pes cavus. There was also striking disturbance of eye movements, with horizontal macrosaccadic oscillations of a high velocity that were induced with each gaze shift. The pattern of inheritance appeared to be autosomal recessive. On follow-up of the same family, Swartz et al. (2003) reported that all sensory modalities, including vibration, joint position, thermal, and pain, were impaired over the feet and calves of affected individuals. Limb ataxia and dysarthria were progressive, with all affected members requiring walking aids by age 49 to 56 years. Nerve conduction studies showed mild to moderate axonal sensorineural peripheral neuropathy in all 5 affected individuals. MRI showed mild cerebellar atrophy with involvement of the dorsal vermis. Affected individuals showed overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades; other eye movements were normal. Swartz et al. (2003) postulated that slowed conduction in axons could explain both the sensorimotor neuropathy and the saccadic disorder, which would be caused by delayed feedback control due to slowed conduction in cerebellar parallel fibers.MAPPING
By genomewide linkage analysis of a Slovenian family with spinocerebellar ataxia with saccadic intrusions, Burmeister et al. (2002) identified a candidate locus on chromosome 1p36 (maximum lod score of 3.03). The 30-cM (13-Mb) nonrecombinant region was flanked by markers D1S468 and D1S507. ... More on the omim web site
July 1, 2020: Protein entry updated
Automatic update: OMIM entry 607317 was added.
May 11, 2019: Protein entry updated
Automatic update: Entry updated from uniprot information.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).