Vacuolar protein sorting-associated protein 13A (VPS13A)
The protein contains 3174 amino acids for an estimated molecular weight of 360276 Da.
Required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids between the ER and mitochondria (PubMed:30741634). Negatively regulates lipid droplet size and motility (PubMed:30741634). Required for efficient lysosomal protein degradation (PubMed:30709847). (updated: June 17, 2020)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
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
Autophagy
Flagellated sperm motility
Golgi to endosome transport
Locomotory behavior
Lysosomal protein catabolic process
Nervous system development
Protein localization
Protein retention in Golgi apparatus
Protein targeting to vacuole
Protein transport
Social behavior
Sperm mitochondrion organization
Cellular Component
Cytosol
Dense core granule
Endoplasmic reticulum membrane
Endosome membrane
Extrinsic component of membrane
Golgi apparatus
Intracellular anatomical structure
Lipid droplet
Lysosomal membrane
Mitochondrial membrane
Mitochondrial outer membrane
Neuronal dense core vesicle lumen
Obsolete cell
Sperm midpiece
Molecular Function
The reference OMIM entry for this protein is 200150
Choreoacanthocytosis; chac
Levine-critchley syndrome
Acanthocytosis with neurologic disorder
Neuroacanthocytosis
Chorea-acanthocytosis
A number sign (#) is used with this entry because choreoacanthocytosis can be caused by homozygous or compound heterozygous mutation in the VPS13A gene (605978), which encodes chorein, on chromosome 9q21.
DESCRIPTION
Choreoacanthocytosis (CHAC) is a rare disorder characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life (Rubio et al., 1997). See also McLeod syndrome (300842) for a phenotypically similar disorder.CLINICAL FEATURES
Critchley et al. (1967, 1968) described an adult form of acanthocytosis associated with neurologic abnormalities and apparently normal serum lipoproteins. The proband had onset in his mid-twenties of generalized weakness and involuntary movements, including grimacing, dystonia, and chorea. Orofacial movements were especially dramatic, and the patient had multiple bite lesions on his lips, tongue, and cheeks. The neurologic manifestations resembled those of the Gilles de la Tourette syndrome (137580) or Huntington disease (143100). Four of the proband's sibs had neurologic manifestations. A niece had acanthocytes and a neurologic disorder suggesting Friedreich ataxia (229300). Estes et al. (1967) and Levine et al. (1968) reported a family in which 19 persons in 4 generations had some degree of neurologic abnormalities, 15 with, and 4 without, acanthocytosis. Acanthocytes averaged from 1 to 20% of the total erythrocyte count, and there was no obvious association between the degree of acanthocytosis and the severity of the neurologic disability. There were no demonstrable quantitative defects of low density (beta) or high density (alpha) lipoproteins. Major neurologic symptoms included muscle weakness and atrophy, leg cramps, disturbances of coordination, hyporeflexia, chorea, and seizures. Inheritance was consistent with autosomal dominance. Levine et al. (1968) concluded that the disorder was neuronal. Critchley et al. (1970) reported a single case from England, a woman who showed self-mutilation of the tongue, lips, and cheeks. Another family was reported by Aminoff (1972). Wasting of girdle and proximal limb muscles, absent tendon reflexes, and disturbance of bladder function were other features. Cederbaum et al. (1971) and Bird et al. (1978) observed a consanguineous family in which 3 adult sibs developed progressive chorea and dementia similar to Huntington disease (143100), but with acanthocytes in the peripheral blood. No malabsorption or abnormalities of serum beta-lipoprotein were found. The proband was a 41-year-old male, and an affected brother and sister had died at ages 32 and 39 years. Postmortem examination showed marked neuronal loss and gliosis of the caudate and putamen. Two children of the proband were healthy. The authors suggested that the same disorder may have been present in the family of Critchley et al. (1967), although the pattern of inheritance in that family appeared to be autosomal dominant. In a patient with acanthocytosis and degeneration of the basal ganglia, Copeland et al. (1982) found an abnormally high level of a protein in the 100,000 MW range on 2-D O'Farrell gel electrophoresis of red cell membranes. This patient was from the family reported by Bird et al. (1978) (Motulsky, 1982). Yamamoto et al. (1982) reported 2 sibs with neuroacanthocytosis with normal serum lipoprotein levels. Features included orolingual tic-like movements associated with vocalization, biting of the lip and tongue, ... More on the omim web site
June 29, 2020: Protein entry updated
Automatic update: Entry updated from uniprot information.
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 200150 was added.