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Aliases for VPS13A Gene

Aliases for VPS13A Gene

  • Vacuolar Protein Sorting 13 Homolog A 2 3
  • Vacuolar Protein Sorting 13 Homolog A (S. Cerevisiae) 2 5
  • Chorea-Acanthocytosis Protein 3 4
  • CHOREIN 3 4
  • CHAC 3 4
  • Vacuolar Protein Sorting 13A (Yeast) 2
  • Vacuolar Protein Sorting 13A 3
  • Chorea Acanthocytosis 2
  • KIAA0986 4
  • Chorein 2

External Ids for VPS13A Gene

Previous HGNC Symbols for VPS13A Gene

  • CHAC

Previous GeneCards Identifiers for VPS13A Gene

  • GC09P075249
  • GC09P077021
  • GC09P078982
  • GC09P079793
  • GC09P049623

Summaries for VPS13A Gene

Entrez Gene Summary for VPS13A Gene

  • The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for VPS13A Gene

VPS13A (Vacuolar Protein Sorting 13 Homolog A) is a Protein Coding gene. Diseases associated with VPS13A include choreoacanthocytosis and curly hair-acral keratoderma-caries syndrome. An important paralog of this gene is VPS13B.

UniProtKB/Swiss-Prot for VPS13A Gene

  • May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane.

Gene Wiki entry for VPS13A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VPS13A Gene

Genomics for VPS13A Gene

Regulatory Elements for VPS13A Gene

Promoters for VPS13A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around VPS13A on UCSC Golden Path with GeneCards custom track

Genomic Location for VPS13A Gene

Chromosome:
9
Start:
77,177,353 bp from pter
End:
77,421,541 bp from pter
Size:
244,189 bases
Orientation:
Plus strand

Genomic View for VPS13A Gene

Genes around VPS13A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS13A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS13A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS13A Gene

Proteins for VPS13A Gene

  • Protein details for VPS13A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RL7-VP13A_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 13A
    Protein Accession:
    Q96RL7
    Secondary Accessions:
    • Q5JSX9
    • Q5JSY0
    • Q5VYR5
    • Q702P4
    • Q709D0
    • Q86YF8
    • Q96S61
    • Q9H995
    • Q9Y2J1

    Protein attributes for VPS13A Gene

    Size:
    3174 amino acids
    Molecular mass:
    360276 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH20576.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for VPS13A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VPS13A Gene

Proteomics data for VPS13A Gene at MOPED

Post-translational modifications for VPS13A Gene

  • Ubiquitination at Lys 2228, Lys 2923, Lys 2988, and Lys 3000
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for VPS13A Gene

Domains & Families for VPS13A Gene

Protein Domains for VPS13A Gene

Suggested Antigen Peptide Sequences for VPS13A Gene

Graphical View of Domain Structure for InterPro Entry

Q96RL7

UniProtKB/Swiss-Prot:

VP13A_HUMAN :
  • Belongs to the VPS13 family.
  • Contains 10 TPR repeats.
Family:
  • Belongs to the VPS13 family.
Similarity:
  • Contains 10 TPR repeats.
genes like me logo Genes that share domains with VPS13A: view

No data available for Gene Families for VPS13A Gene

Function for VPS13A Gene

Molecular function for VPS13A Gene

UniProtKB/Swiss-Prot Function:
May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane.
genes like me logo Genes that share phenotypes with VPS13A: view

Human Phenotype Ontology for VPS13A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for VPS13A Gene

MGI Knock Outs for VPS13A:

Animal Model Products

  • Taconic Biosciences Mouse Models for VPS13A

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for VPS13A Gene

Localization for VPS13A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VPS13A Gene COMPARTMENTS Subcellular localization image for VPS13A gene
Compartment Confidence
mitochondrion 3
cytosol 2
plasma membrane 2
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for VPS13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol NAS 11381253
GO:0031045 dense core granule IEA --
genes like me logo Genes that share ontologies with VPS13A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for VPS13A Gene

Pathways & Interactions for VPS13A Gene

SuperPathways for VPS13A Gene

No Data Available

Gene Ontology (GO) - Biological Process for VPS13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006623 protein targeting to vacuole IBA --
GO:0007399 nervous system development IEA --
GO:0008104 protein localization NAS 11381254
GO:0035176 social behavior IEA --
genes like me logo Genes that share ontologies with VPS13A: view

No data available for Pathways by source and SIGNOR curated interactions for VPS13A Gene

Drugs & Compounds for VPS13A Gene

(1) Additional Compounds for VPS13A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with VPS13A: view

Transcripts for VPS13A Gene

Unigene Clusters for VPS13A Gene

Vacuolar protein sorting 13 homolog A (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for VPS13A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a ·
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

ExUns: 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -

Relevant External Links for VPS13A Gene

GeneLoc Exon Structure for
VPS13A
ECgene alternative splicing isoforms for
VPS13A

Expression for VPS13A Gene

mRNA expression in normal human tissues for VPS13A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VPS13A Gene

This gene is overexpressed in Ovary (28.5), Peripheral blood mononuclear cells (9.3), Blymphocyte (6.8), and Heart (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for VPS13A Gene



SOURCE GeneReport for Unigene cluster for VPS13A Gene Hs.459790

mRNA Expression by UniProt/SwissProt for VPS13A Gene

Q96RL7-VP13A_HUMAN
Tissue specificity: Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.
genes like me logo Genes that share expression patterns with VPS13A: view

Protein tissue co-expression partners for VPS13A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for VPS13A Gene

Orthologs for VPS13A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for VPS13A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia VPS13A 35
  • 88.08 (n)
  • 84.03 (a)
-- 36
  • 85 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
dog
(Canis familiaris)
Mammalia VPS13A 35
  • 90.5 (n)
  • 88.8 (a)
VPS13A 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vps13a 35
  • 85.19 (n)
  • 84.52 (a)
Vps13a 16
Vps13a 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VPS13A 35
  • 99.76 (n)
  • 99.65 (a)
VPS13A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vps13a 35
  • 85.52 (n)
  • 84.46 (a)
oppossum
(Monodelphis domestica)
Mammalia VPS13A 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VPS13A 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves VPS13A 35
  • 70.81 (n)
  • 66.99 (a)
VPS13A 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VPS13A 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vps13a 35
  • 66.94 (n)
  • 63.12 (a)
zebrafish
(Danio rerio)
Actinopterygii chac 35
vps13a 35
  • 58.25 (n)
  • 58.22 (a)
vps13a 36
  • 56 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005082 35
  • 45.17 (n)
  • 34.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta Vps13 35
  • 46.09 (n)
  • 33.9 (a)
Vps13 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T08G11.1 35
  • 46.85 (n)
  • 32.62 (a)
T08G11.1 36
  • 29 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL064C 35
  • 43.04 (n)
  • 27.82 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00705g 35
  • 42.36 (n)
  • 26.61 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS13 35
  • 43.8 (n)
  • 28.46 (a)
VPS13 36
  • 21 (a)
OneToMany
VPS13 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6732 35
bread mold
(Neurospora crassa)
Ascomycetes NCU05837 35
  • 42.08 (n)
  • 28.17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToMany
Species with no ortholog for VPS13A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VPS13A Gene

ENSEMBL:
Gene Tree for VPS13A (if available)
TreeFam:
Gene Tree for VPS13A (if available)

Paralogs for VPS13A Gene

Paralogs for VPS13A Gene

(1) SIMAP similar genes for VPS13A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with VPS13A: view

Variants for VPS13A Gene

Sequence variations from dbSNP and Humsavar for VPS13A Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_012803 Choreoacanthocytosis (CHAC)
VAR_036324 A colorectal cancer sample
VAR_038420 Choreoacanthocytosis (CHAC)
VAR_038421 Choreoacanthocytosis (CHAC)
VAR_058114 -

Structural Variations from Database of Genomic Variants (DGV) for VPS13A Gene

Variant ID Type Subtype PubMed ID
nsv893484 CNV Loss 21882294
nsv521364 CNV Loss 19592680
esv2672384 CNV Deletion 23128226
esv2613215 CNV Deletion 19546169
esv7342 OTHER Inversion 19470904

Variation tolerance for VPS13A Gene

Residual Variation Intolerance Score: 0.614% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.41; 71.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VPS13A Gene

HapMap Linkage Disequilibrium report
VPS13A
Human Gene Mutation Database (HGMD)
VPS13A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VPS13A Gene

Disorders for VPS13A Gene

MalaCards: The human disease database

(7) MalaCards diseases for VPS13A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
choreoacanthocytosis
  • neuroacanthocytosis
curly hair-acral keratoderma-caries syndrome
  • chacs
choreatic disease
  • chorea
periodic limb movement disorder
  • nocturnal myoclonus
megaesophagus
  • esophageal achalasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VP13A_HUMAN
  • Choreoacanthocytosis (CHAC) [MIM:200150]: An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation. {ECO:0000269 PubMed:11381253, ECO:0000269 PubMed:12404112}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for VPS13A

Genetic Association Database (GAD)
VPS13A
Human Genome Epidemiology (HuGE) Navigator
VPS13A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VPS13A
genes like me logo Genes that share disorders with VPS13A: view

No data available for Genatlas for VPS13A Gene

Publications for VPS13A Gene

  1. A conserved sorting-associated protein is mutant in chorea- acanthocytosis. (PMID: 11381253) Rampoldi L. … Monaco A.P. (Nat. Genet. 2001) 2 3 4 67
  2. Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree. (PMID: 17673232) Ichiba M. … Sano A. (J. Neurol. Sci. 2007) 3 23
  3. Choreoacanthocytosis in a Mexican family. (PMID: 17998451) Ruiz-Sandoval J.L. … PAcrez-GarcA-a G. (Arch. Neurol. 2007) 3 23
  4. Analysis of the human VPS13 gene family. (PMID: 15498460) Velayos-Baeza A. … Monaco A.P. (Genomics 2004) 3 23
  5. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. (PMID: 11381254) Ueno S. … Sano A. (Nat. Genet. 2001) 3 23

Products for VPS13A Gene

Sources for VPS13A Gene

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