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Vps13a Gene Detail
Summary
  • Symbol
    Vps13a
  • Name
    vacuolar protein sorting 13A
  • Synonyms
    4930516E05Rik, 4930543C13Rik, D330038K10Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444304
    NCBI Gene: 271564
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:16592730-16758297 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 11.71 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1295 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444304
 protein coding gene Chr19:16592730-16758433 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024960
 protein coding gene Chr19:14373915-14563663 (-)
A/J MGP_AJ_G0024937
 protein coding gene Chr19:13548291-13711472 (-)
AKR/J MGP_AKRJ_G0024907
 protein coding gene Chr19:14091373-14266040 (-)
BALB/cJ MGP_BALBcJ_G0024936
 protein coding gene Chr19:13582532-13748051 (-)
C3H/HeJ MGP_C3HHeJ_G0024694
 protein coding gene Chr19:14038228-14212824 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025378
 protein coding gene Chr19:14932681-15119650 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022797
 protein coding gene Chr19:13971337-14138637 (-)
CAST/EiJ MGP_CASTEiJ_G0024162
 protein coding gene Chr19:13616790-13800381 (-)
CBA/J MGP_CBAJ_G0024672
 protein coding gene Chr19:15400439-15607480 (-)
DBA/2J MGP_DBA2J_G0024804
 protein coding gene Chr19:13581361-13750772 (-)
FVB/NJ MGP_FVBNJ_G0024765
 protein coding gene Chr19:13499713-13675135 (-)
LP/J MGP_LPJ_G0024888
 protein coding gene Chr19:14364171-14544043 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024792
 protein coding gene Chr19:15314016-15556144 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025433
 protein coding gene Chr19:14016833-14190857 (-)
PWK/PhJ MGP_PWKPhJ_G0023911
 protein coding gene Chr19:13102894-13271881 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023716
 protein coding gene Chr19:13304882-13479582 (-)
WSB/EiJ MGP_WSBEiJ_G0024230
 protein coding gene Chr19:14046337-14226292 (-)



Homology
more
  • Human Ortholog
    VPS13A, vacuolar protein sorting 13 homolog A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    VPS13A, vacuolar protein sorting 13 homolog A
  • Synonyms
    BLTP5A, CHAC, CHOREIN
  • Links
    NCBI Gene ID: 23230
    neXtProt AC: NX_Q96RL7
    UniProt: Q96RL7

  • Chr Location
    9q21.2; chr9:77177445-77421537 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Vps13a mouse models; 2 with human VPS13A associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 2 alleles in 3 genetic backgrounds
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mice show motor dysfunction, altered social interaction, hematologic defects including acanthocytosis, striatum atrophy with significant apoptosis and gliosis, lower midbrain homovanillic acid levels, and male sterility with asthenozoospermia and sperm mitochondrial sheath anomalies.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    8
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    753
  • Tissues
    29
  • cDNA Data
    74
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000046230 Ensembl Gene Model | MGI Sequence Detail 165568 C57BL/6J ±  kb
    transcript ENSMUST00000068156 Ensembl | MGI Sequence Detail 10838 Not Applicable  
    polypeptide ENSMUSP00000068716 Ensembl | MGI Sequence Detail 3166 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      13 Sequences
    • Protein Ontology
      PR:000017319 intermembrane lipid transfer protein VPS13A
      (term hierarchy)
    • InterPro Domains
      IPR015412 Atg2/VPS13, C-terminal
      IPR049424 Intermembrane lipid transfer protein VPS13, C-terminal
      IPR026847 Vacuolar protein sorting-associated protein 13
      IPR031645 Vacuolar protein sorting-associated protein 13, DH-like domain
      IPR031646 Vacuolar protein sorting-associated protein 13, extended chorein
      IPR026854 Vacuolar protein sorting-associated protein 13-like, N-terminal domain
      IPR009543 Vacuolar protein sorting-associated protein 13, VPS13 adaptor binding domain
      IPR031642 VPS13, middle RBG modules
    Molecular
    Reagents
    less
    • All nucleic 76
      cDNA 76

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1922380, MGI:1926182
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 8
      Phenotypes 17
    • 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:341242 Garcia-Garcia E, et al., VPS13A knockdown impairs corticostriatal synaptic plasticity and locomotor behavior in a new mouse model of chorea-acanthocytosis. Neurobiol Dis. 2023 Sep 13;187:106292
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory