Vps13a
Gene Detail

Symbol Name ID

Vps13a vacuolar protein sorting 13A (yeast) MGI:2444304

Synonyms

4930516E05Rik, 4930543C13Rik, D330038K10Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 19

11.71 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr19:16616763-16780822 bp, - strand From Ensembl annotation of GRCm38   164060 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:22068  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Vps13a

Human homologs

Human Homolog		VPS13A, vacuolar protein sorting 13 homolog A (S. cerevisiae)
NCBI Gene ID		23230
neXtProt AC		NX_Q96RL7
Human Synonyms		CHAC, CHOREIN
Human Chr (Location)		9q21; chr9:79792361-80032399 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human VPS13A

Alleles and phenotypes

All alleles(8) : Targeted(3) Gene trapped(5)
 

Aging mice homozygous for a knock-out allele display motor dysfunction and abnormal social interaction, hematologic anomalies including acanthocytosis, selective atrophy of the striatum with significant apoptosis and gliosis, and reduced homovanillic acid levels in midbrain.

 
Human Diseases Modeled Using Mouse Vps13a (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (7 annotations)

Process	locomotory behavior, nervous system development, ...
Component	dense core granule
Function	molecular_function

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (47)    Tissues (29)    Images (18)
Theiler Stages: 19, 23, 28

Assay Type	Results
RNA in situ	47

cDNA source data(92)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(94) cDNA(94)
Microarray probesets(8)

Other database links

Ensembl Gene Model	ENSMUSG00000046230 (Evidence)
Entrez Gene	271564 (Evidence)
UniGene	211963
DFCI	TC1580817, TC1603652, TC1606130, TC1611244, TC1624604, TC1662241, TC1673813, TC1675599, TC1716205
DoTS	DT.101320825, DT.101358001, DT.101702852, DT.101712061, DT.101715726, DT.110861144, DT.40145133, DT.40151365, DT.524294, DT.55232405, DT.94129921
NIA Mouse Gene Index	U038891
Consensus CDS Project	CCDS37929.1
International Mouse Knockout Project Status	Vps13a

Sequences

Length	Strain/Species
genomic	ENSMUSG00000046230	Ensembl Gene Model | MGI Sequence Detail	164060	C57BL/6J
transcript	ENSMUST00000068156	Ensembl | MGI Sequence Detail	9656	Not Applicable
polypeptide	ENSMUSP00000068716	Ensembl | MGI Sequence Detail	3166	Not Applicable

All sequences(76) RefSeq(2) UniProt(10)

Polymorphisms

SNPs(839 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR015412	Autophagy-related, C-terminal
InterPro	IPR026847	Vacuolar protein sorting-associated protein 13
InterPro	IPR026854	Vacuolar protein sorting-associated protein 13A N-terminal domain
InterPro	IPR009543	Vacuolar protein sorting-associated protein 13 domain
Protein Ontology	PR:000017319	vacuolar protein sorting-associated protein 13A

References

(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:182594 Hayashi T, et al., Subcellular localization and putative role of VPS13A/chorein in dopaminergic neuronal cells. Biochem Biophys Res Commun. 2012 Mar 16;419(3):511-6
All references(33)

Other accession IDs

MGI:1922380, MGI:1926182