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Spart Gene Detail
Summary
  • Symbol
    Spart
  • Name
    spartin
  • Synonyms
    mKIAA0610, Spg20, TAHCCP1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2139806
    NCBI Gene: 229285
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:55019529-55044743 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 26.53 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    749 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2139806
 protein coding gene Chr3:55019500-55044753 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027220
 protein coding gene Chr3:53839516-53864728 (+)
A/J MGP_AJ_G0027180
 protein coding gene Chr3:52173437-52198755 (+)
AKR/J MGP_AKRJ_G0027150
 protein coding gene Chr3:53256236-53281351 (+)
BALB/cJ MGP_BALBcJ_G0027193
 protein coding gene Chr3:52025106-52050317 (+)
C3H/HeJ MGP_C3HHeJ_G0026936
 protein coding gene Chr3:53457172-53482383 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027639
 protein coding gene Chr3:55897057-55922271 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024998
 protein coding gene Chr3:48692165-48717320 (+)
CAST/EiJ MGP_CASTEiJ_G0026388
 protein coding gene Chr3:53601930-53628407 (+)
CBA/J MGP_CBAJ_G0026912
 protein coding gene Chr3:57669259-57694470 (+)
DBA/2J MGP_DBA2J_G0027046
 protein coding gene Chr3:51726473-51751676 (+)
FVB/NJ MGP_FVBNJ_G0027014
 protein coding gene Chr3:50718576-50743735 (+)
LP/J MGP_LPJ_G0027158
 protein coding gene Chr3:54551887-54577101 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027032
 protein coding gene Chr3:61791215-61816324 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027697
 protein coding gene Chr3:53161103-53186317 (+)
PWK/PhJ MGP_PWKPhJ_G0026120
 protein coding gene Chr3:51398367-51423528 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025933
 protein coding gene Chr3:52918118-52943401 (+)
WSB/EiJ MGP_WSBEiJ_G0026462
 protein coding gene Chr3:53288631-53313838 (+)



Homology
more
  • Human Ortholog
    SPART, spartin
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPART, spartin
  • Synonyms
    SPG20, TAHCCP1
  • Links
    NCBI Gene ID: 23111
    neXtProt AC: NX_Q8N0X7
    UniProt: Q8N0X7

  • Chr Location
    13q13.3; chr13:36301638-36370180 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Spart mouse models; 1 with human SPART associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 2 alleles in 2 genetic backgrounds
    18 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 knock-out allele exhibit impaired lipid droplet amintenance, cytokinesis and impaired motor coordination.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    35
  • GO References
    10
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
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
    730
  • Tissues
    3
  • cDNA Data
    114
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036580 Ensembl Gene Model | MGI Sequence Detail 25215 C57BL/6J ±  kb
    transcript ENSMUST00000118118 Ensembl | MGI Sequence Detail 3981 Not Applicable  
    polypeptide ENSMUSP00000113621 Ensembl | MGI Sequence Detail 671 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 114
      cDNA 114

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2140061, MGI:7413984
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 10
      Phenotypes 18
    • Earliest
      J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory