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Guidelines

MIRAGE

vacuolar protein sorting 13 homolog A

Summary

Gene Symbol

VPS13A

Organism

Homo sapiens (human)

External Links

NCBI Gene

23230

PubChem

23230

Alliance of Genome Resources

HGNC:1908

Annotation

Keyword

Alternative splicing
Cytoplasmic vesicle
Disease variant
Endoplasmic reticulum
Endosome
Epilepsy
Golgi apparatus
Lipid droplet
Lipid transport
Lysosome
Mitochondrion outer membrane
Neurodegeneration
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
TPR repeat

Proteins

Displaying 1 entry
UniProt	Protein Name
Q96RL7	Chorea-acanthocytosis protein Chorein Vacuolar protein sorting-associated protein 13A

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 26 in total

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GO Term	Evidence Code	PMID
protein targeting to vacuole	IBA
lipid transport	IEA
Golgi to endosome transport	NAS	11381253
autophagy	IMP	25996471
autophagy	IBA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

catabolic process [inference]

cellular catabolic process [inference]

autophagy

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular metabolic process [inference]

cellular catabolic process [inference]

autophagy

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

primary metabolic process [inference]

protein metabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

macromolecule biosynthetic process [inference]

gene expression

protein metabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular process [inference]

microtubule-based process [inference]

microtubule-based movement [inference]

cilium movement [inference]

cilium movement involved in cell motility [inference]

flagellated sperm motility

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein tyrosine kinase signaling pathway [inference]

brain-derived neurotrophic factor receptor signaling pathway

vesicle-mediated transport [inference]

Golgi vesicle transport [inference]

post-Golgi vesicle-mediated transport [inference]

Golgi to endosome transport

cellular metabolic process [inference]

cellular catabolic process [inference]

autophagy

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular developmental process [inference]

cell differentiation [inference]

leukocyte differentiation [inference]

myeloid leukocyte differentiation [inference]

macrophage differentiation [inference]

microglia differentiation

glial cell differentiation [inference]

microglia differentiation

myeloid cell differentiation [inference]

myeloid leukocyte differentiation [inference]

macrophage differentiation [inference]

microglia differentiation

erythrocyte differentiation

cell motility [inference]

cilium or flagellum-dependent cell motility [inference]

cilium-dependent cell motility [inference]

flagellated sperm motility

sperm motility [inference]

flagellated sperm motility

cellular localization [inference]

intracellular transport [inference]

cytosolic transport [inference]

Golgi to endosome transport

cellular macromolecule localization [inference]

protein localization

protein localization to organelle [inference]

establishment of protein localization to organelle [inference]

establishment of protein localization to vacuole [inference]

protein targeting to vacuole

protein localization to vacuole [inference]

establishment of protein localization to vacuole [inference]

protein targeting to vacuole

establishment of protein localization [inference]

protein targeting [inference]

protein targeting to vacuole

protein transport [inference]

protein secretion

establishment of protein localization to extracellular region [inference]

protein secretion

establishment of protein localization to organelle [inference]

establishment of protein localization to vacuole [inference]

protein targeting to vacuole

protein localization to extracellular region [inference]

establishment of protein localization to extracellular region [inference]

protein secretion

maintenance of location in cell [inference]

maintenance of protein location in cell [inference]

protein retention in Golgi apparatus

cellular response to stimulus [inference]

cellular response to stress [inference]

cellular response to chemical stress [inference]

cellular response to osmotic stress

cellular response to chemical stimulus [inference]

cellular response to chemical stress [inference]

cellular response to osmotic stress

cellular response to environmental stimulus [inference]

cellular response to abiotic stimulus [inference]

cellular response to osmotic stress

process utilizing autophagic mechanism [inference]

autophagy

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

mitochondrion organization [inference]

sperm mitochondrion organization

cell projection organization [inference]

cell projection morphogenesis [inference]

plasma membrane bounded cell projection morphogenesis [inference]

neuron projection morphogenesis [inference]

neuron projection arborization

export from cell [inference]

secretion by cell [inference]

protein secretion

reproductive process [inference]

sperm motility [inference]

flagellated sperm motility

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

neuromuscular process [inference]

neuromuscular process controlling balance

behavior [inference]

locomotory behavior [inference]

adult locomotory behavior

adult behavior [inference]

adult locomotory behavior

multicellular organism growth

developmental process [inference]

anatomical structure morphogenesis [inference]

cellular anatomical entity morphogenesis [inference]

cell projection morphogenesis [inference]

plasma membrane bounded cell projection morphogenesis [inference]

neuron projection morphogenesis [inference]

neuron projection arborization

cellular developmental process [inference]

cell differentiation [inference]

leukocyte differentiation [inference]

myeloid leukocyte differentiation [inference]

macrophage differentiation [inference]

microglia differentiation

glial cell differentiation [inference]

microglia differentiation

myeloid cell differentiation [inference]

myeloid leukocyte differentiation [inference]

macrophage differentiation [inference]

microglia differentiation

erythrocyte differentiation

growth [inference]

developmental growth [inference]

multicellular organism growth

response to stimulus [inference]

response to stress [inference]

defense response [inference]

inflammatory response [inference]

neuroinflammatory response

response to osmotic stress [inference]

cellular response to osmotic stress

cellular response to stress [inference]

cellular response to chemical stress [inference]

cellular response to osmotic stress

response to external stimulus [inference]

response to environmental enrichment

response to abiotic stimulus [inference]

response to osmotic stress [inference]

cellular response to osmotic stress

cellular response to abiotic stimulus [inference]

cellular response to osmotic stress

response to chemical [inference]

cellular response to chemical stimulus [inference]

cellular response to chemical stress [inference]

cellular response to osmotic stress

cellular response to stimulus [inference]

cellular response to stress [inference]

cellular response to chemical stress [inference]

cellular response to osmotic stress

cellular response to chemical stimulus [inference]

cellular response to chemical stress [inference]

cellular response to osmotic stress

cellular response to environmental stimulus [inference]

cellular response to abiotic stimulus [inference]

cellular response to osmotic stress

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization

protein localization to organelle [inference]

establishment of protein localization to organelle [inference]

establishment of protein localization to vacuole [inference]

protein targeting to vacuole

protein localization to vacuole [inference]

establishment of protein localization to vacuole [inference]

protein targeting to vacuole

establishment of protein localization [inference]

protein targeting [inference]

protein targeting to vacuole

protein transport [inference]

protein secretion

establishment of protein localization to extracellular region [inference]

protein secretion

establishment of protein localization to organelle [inference]

establishment of protein localization to vacuole [inference]

protein targeting to vacuole

protein localization to extracellular region [inference]

establishment of protein localization to extracellular region [inference]

protein secretion

establishment of localization [inference]

transport [inference]

vesicle-mediated transport [inference]

Golgi vesicle transport [inference]

post-Golgi vesicle-mediated transport [inference]

Golgi to endosome transport

secretion [inference]

secretion by cell [inference]

protein secretion

intracellular transport [inference]

cytosolic transport [inference]

Golgi to endosome transport

organic substance transport [inference]

lipid transport

protein transport [inference]

protein secretion

nitrogen compound transport [inference]

protein transport [inference]

protein secretion

export from cell [inference]

secretion by cell [inference]

protein secretion

establishment of protein localization [inference]

protein targeting [inference]

protein targeting to vacuole

protein transport [inference]

protein secretion

establishment of protein localization to extracellular region [inference]

protein secretion

establishment of protein localization to organelle [inference]

establishment of protein localization to vacuole [inference]

protein targeting to vacuole

establishment of localization in cell [inference]

intracellular transport [inference]

cytosolic transport [inference]

Golgi to endosome transport

maintenance of location [inference]

maintenance of protein location [inference]

maintenance of protein location in cell [inference]

protein retention in Golgi apparatus

maintenance of location in cell [inference]

maintenance of protein location in cell [inference]

protein retention in Golgi apparatus

cellular localization [inference]

intracellular transport [inference]

cytosolic transport [inference]

Golgi to endosome transport

cellular macromolecule localization [inference]

protein localization

protein localization to organelle [inference]

establishment of protein localization to organelle [inference]

establishment of protein localization to vacuole [inference]

protein targeting to vacuole

protein localization to vacuole [inference]

establishment of protein localization to vacuole [inference]

protein targeting to vacuole

establishment of protein localization [inference]

protein targeting [inference]

protein targeting to vacuole

protein transport [inference]

protein secretion

establishment of protein localization to extracellular region [inference]

protein secretion

establishment of protein localization to organelle [inference]

establishment of protein localization to vacuole [inference]

protein targeting to vacuole

protein localization to extracellular region [inference]

establishment of protein localization to extracellular region [inference]

protein secretion

biological process involved in intraspecies interaction between organisms [inference]

social behavior

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

negative regulation of signaling [inference]

negative regulation of synaptic transmission [inference]

long-term synaptic depression

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

regulation of synaptic plasticity [inference]

long-term synaptic depression

negative regulation of synaptic transmission [inference]

long-term synaptic depression

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of synaptic transmission [inference]

long-term synaptic depression

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of synaptic transmission [inference]

long-term synaptic depression

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein tyrosine kinase signaling pathway [inference]

brain-derived neurotrophic factor receptor signaling pathway

regulation of cell communication [inference]

negative regulation of cell communication [inference]

negative regulation of synaptic transmission [inference]

long-term synaptic depression

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

regulation of synaptic plasticity [inference]

long-term synaptic depression

negative regulation of synaptic transmission [inference]

long-term synaptic depression

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of synaptic transmission [inference]

long-term synaptic depression

regulation of biological quality [inference]

regulation of synaptic plasticity [inference]

long-term synaptic depression

Displaying entries **1 - 5** of 15 in total

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GO Term	Evidence Code	PMID
mitochondrion	IDA
mitochondrion	HTP	34800366
mitochondrial outer membrane	IDA	30741634
lysosomal membrane	IDA	30709847
endoplasmic reticulum membrane	IDA	30093493 30709847 30741634 32845802

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

membrane [inference]

outer membrane [inference]

organelle outer membrane [inference]

mitochondrial outer membrane

organelle membrane [inference]

endoplasmic reticulum membrane

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

endosome membrane

mitochondrial membrane

mitochondrial outer membrane

bounding membrane of organelle [inference]

vacuolar membrane [inference]

lytic vacuole membrane [inference]

lysosomal membrane

endosome membrane

organelle outer membrane [inference]

mitochondrial outer membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

vesicle lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

dense core granule lumen [inference]

neuronal dense core vesicle lumen

intracellular organelle lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

dense core granule lumen [inference]

neuronal dense core vesicle lumen

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

lipid droplet

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

lipid droplet

organelle membrane contact site [inference]

mitochondria-associated endoplasmic reticulum membrane

cell body [inference]

neuronal cell body

sperm midpiece

Displaying 1 entry
GO Term	Evidence Code	PMID
protein binding	IPI	17474147 30709847 30741634

GO Hierarchy

molecular function

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Vacuolar protein

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
mitochondrion organization
protein retention in Golgi apparatus
protein targeting to vacuole

Displaying **all 4** entries
InterPro
Intermembrane lipid transfer protein VPS13, C-terminal
VPS13, middle RBG modules
Vacuolar protein sorting-associated protein 13, DH-like domain
Vacuolar protein sorting-associated protein 13

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0050766	choreaacanthocytosis	Alliance of Genome Resources
DOID:12859	choreatic disease	Alliance of Genome Resources

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025