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Vps13d Gene Detail
Summary
  • Symbol
    Vps13d
  • Name
    vacuolar protein sorting 13D
  • Feature Type
    protein coding gene
  • IDs
    MGI:2448530
    NCBI Gene: 230895
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:144699192-144921575 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 78.17 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1865 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2448530
 protein coding gene Chr4:144597619-144921598 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029101
 protein coding gene Chr4:148339173-148576419 (-)
A/J MGP_AJ_G0029068
 protein coding gene Chr4:142085211-142310399 (-)
AKR/J MGP_AKRJ_G0029016
 protein coding gene Chr4:146032015-146258652 (-)
BALB/cJ MGP_BALBcJ_G0029083
 protein coding gene Chr4:142724854-142949701 (-)
C3H/HeJ MGP_C3HHeJ_G0028802
 protein coding gene Chr4:146493844-146721517 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029528
 protein coding gene Chr4:153327642-153557641 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026780
 protein coding gene Chr4:134809088-135032571 (-)
CAST/EiJ MGP_CASTEiJ_G0028218
 protein coding gene Chr4:144546969-144784069 (-)
CBA/J MGP_CBAJ_G0028766
 protein coding gene Chr4:158186294-158421100 (-)
DBA/2J MGP_DBA2J_G0028914
 protein coding gene Chr4:142238741-142469936 (-)
FVB/NJ MGP_FVBNJ_G0028876
 protein coding gene Chr4:141377604-141600782 (-)
LP/J MGP_LPJ_G0029005
 protein coding gene Chr4:148394034-148623980 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028906
 protein coding gene Chr4:161702040-161934238 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029565
 protein coding gene Chr4:146527197-146760669 (-)
PWK/PhJ MGP_PWKPhJ_G0027938
 protein coding gene Chr4:138716868-138945215 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027772
 protein coding gene Chr4:141762983-141998578 (-)
WSB/EiJ MGP_WSBEiJ_G0028297
 protein coding gene Chr4:146771533-147011772 (-)



Homology
more
  • Human Ortholog
    VPS13D, vacuolar protein sorting 13 homolog D
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    VPS13D, vacuolar protein sorting 13 homolog D
  • Synonyms
    BLTP5D, SCA24, SCAR4, SCASI
  • Links
    NCBI Gene ID: 55187
    neXtProt AC: NX_Q5THJ4
    UniProt: Q5THJ4

  • Chr Location
    1p36.22-p36.21; chr1:12230030-12512047 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human VPS13D associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    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.
Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    5
  • GO References
    2
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
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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
    726
  • Tissues
    9
  • cDNA Data
    13
  • Literature Summary
    1
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000020220 Ensembl Gene Model | MGI Sequence Detail 222384 C57BL/6J ±  kb
transcript ENSMUST00000036579 Ensembl | MGI Sequence Detail 15849 Not Applicable  
polypeptide ENSMUSP00000043240 Ensembl | MGI Sequence Detail 4390 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    6 Sequences
  • InterPro Domains
    IPR049424 Intermembrane lipid transfer protein VPS13, C-terminal
    IPR041969 Intermembrane lipid transfer protein VPS13D, UBA domain
    IPR009060 UBA-like superfamily
    IPR015940 Ubiquitin-associated domain
    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 14
    cDNA 14

    Microarray probesets 7
Other
Accession IDs
less
MGI:2140701
References
more
  • Summaries
    All 38
    Developmental Gene Expression 1
    Gene Ontology 2
    Phenotypes 17
  • Earliest
    J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
  • Latest
    J:228563 Koscielny G, et al., The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9
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)
Citing These Resources
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