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Aliases for VPS13A Gene

Aliases for VPS13A Gene

  • Vacuolar Protein Sorting 13 Homolog A (S. Cerevisiae) 2 3
  • CHAC 3 4 6
  • Chorea-Acanthocytosis Protein 3 4
  • CHOREIN 3 4
  • Vacuolar Protein Sorting-Associated Protein 13A 3
  • Vacuolar Protein Sorting 13A (Yeast) 2
  • Vacuolar Protein Sorting 13A 3
  • Chorea Acanthocytosis 2
  • KIAA0986 4
  • Chorein 2

External Ids for VPS13A Gene

Previous Symbols for VPS13A Gene

  • CHAC

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 (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with VPS13A include choreoacanthocytosis. 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

Genomic Location for VPS13A Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VPS13A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS13A Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys2228, Lys2923, Lys2988, and Lys3000

No data available for DME Specific Peptides for VPS13A Gene

Domains 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
Family:
  • Belongs to the VPS13 family.:
    • Q96RL7
Similarity:
  • Contains 10 TPR repeats.:
    • Q96RL7
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

Gene Ontology (GO) - Molecular Function for VPS13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17474147
genes like me logo Genes that share ontologies with VPS13A: view
genes like me logo Genes that share phenotypes with VPS13A: view

Animal Models for VPS13A Gene

MGI Knock Outs for VPS13A:

miRNA for VPS13A Gene

miRTarBase miRNAs that target VPS13A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
cytosol 2
mitochondrion 2
plasma membrane 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for VPS13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 11381254
GO:0019898 extrinsic component of membrane IBA --
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 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:0006895 Golgi to endosome transport NAS 11381253
GO:0007399 nervous system development IEA --
GO:0007626 locomotory behavior IEA --
GO:0008104 protein localization NAS 11381254
genes like me logo Genes that share ontologies with VPS13A: view

No data available for Pathways by source for VPS13A Gene

Compounds for VPS13A Gene

(1) Novoseek inferred chemical compound relationships for VPS13A Gene

Compound -log(P) Hits PubMed IDs
creatinine 33.4 1
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

Integrated Proteomics: protein expression 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 expressions with VPS13A: view

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
chimpanzee
(Pan troglodytes)
Mammalia VPS13A 35
  • 99.76 (n)
  • 99.65 (a)
VPS13A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
VPS13A 35
  • 88.08 (n)
  • 84.03 (a)
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
oppossum
(Monodelphis domestica)
Mammalia VPS13A 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VPS13A 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vps13a 35
  • 85.52 (n)
  • 84.46 (a)
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)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS13 35
  • 43.8 (n)
  • 28.46 (a)
VPS13 36
  • 21 (a)
OneToMany
VPS13 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00705g 35
  • 42.36 (n)
  • 26.61 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05837 35
  • 42.08 (n)
  • 28.17 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6732 35
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

Selected 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 MAF
rs3177 -- 77,417,192(-) CTAAA(C/T)AGGAT utr-variant-3-prime
rs9186 -- 77,417,030(+) CAGCT(C/T)ATCAC utr-variant-3-prime
rs869241 -- 77,320,643(+) AGGAT(A/T)TGAAA intron-variant
rs869309 -- 77,222,634(-) acaca(C/T)agaca intron-variant
rs955306 -- 77,282,456(+) ACTGG(C/T)GAAGA intron-variant

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

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

(1) OMIM Diseases for VPS13A Gene (605978)

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.

(1) MalaCards Diseases for VPS13A Gene

Search for VPS13A Gene in MalaCards »

(2) University of Copenhagen DISEASES for VPS13A Gene

(4) Novoseek inferred disease relationships for VPS13A Gene

Disease -log(P) Hits PubMed IDs
chacs 99 28
chorea-acanthocytosis 98.5 10
huntington disease 66.8 3
neurodegenerative diseases 56.8 3

Relevant External Links for VPS13A

GeneTests
VPS13A
GeneReviews
VPS13A
Genetic Association Database (GAD)
VPS13A
Human Genome Epidemiology (HuGE) Navigator
VPS13A
genes like me logo Genes that share disorders with VPS13A: view

Publications for VPS13A Gene

  1. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. (PMID: 11381254) Ueno S. … Sano A. (Nat. Genet. 2001) 3 4 23
  2. Analysis of the human VPS13 gene family. (PMID: 15498460) Velayos-Baeza A. … Monaco A.P. (Genomics 2004) 3 4 23
  3. A conserved sorting-associated protein is mutant in chorea- acanthocytosis. (PMID: 11381253) Rampoldi L. … Monaco A.P. (Nat. Genet. 2001) 2 3 4
  4. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. (PMID: 9382101) Rubio J.P. … Monaco A.P. (Am. J. Hum. Genet. 1997) 2 3
  5. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 3 4

Products for VPS13A Gene

Sources for VPS13A Gene

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