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Aspscr1 Gene Detail
Summary
  • Symbol
    Aspscr1
  • Name
    ASPSCR1 tether for SLC2A4, UBX domain containing
  • Synonyms
    1190006K01Rik, ASPC, ASPCR1, ASPL, RCC17, TUG
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916188
    NCBI Gene: 68938
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:120563878-120600273 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 84.41 cM, cytoband E2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    594 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916188
 protein coding gene Chr11:120563799-120600273 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019521
 protein coding gene Chr11:125153916-125194365 (+)
A/J MGP_AJ_G0019489
 protein coding gene Chr11:119582907-119619763 (+)
AKR/J MGP_AKRJ_G0019459
 protein coding gene Chr11:123198522-123236996 (+)
BALB/cJ MGP_BALBcJ_G0019464
 protein coding gene Chr11:119942339-119979324 (+)
C3H/HeJ MGP_C3HHeJ_G0019270
 protein coding gene Chr11:123515701-123560828 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019912
 protein coding gene Chr11:128941016-128977388 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017538
 protein coding gene Chr11:116573611-116610127 (+)
CAST/EiJ MGP_CASTEiJ_G0018824
 protein coding gene Chr11:125023662-125066215 (+)
CBA/J MGP_CBAJ_G0019241
 protein coding gene Chr11:133974616-134016163 (+)
DBA/2J MGP_DBA2J_G0019353
 protein coding gene Chr11:118951244-118987527 (+)
FVB/NJ MGP_FVBNJ_G0019345
 protein coding gene Chr11:118665138-118702351 (+)
LP/J MGP_LPJ_G0019425
 protein coding gene Chr11:125456607-125495401 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019378
 protein coding gene Chr11:132814295-132853455 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019952
 protein coding gene Chr11:123868245-123906023 (+)
PWK/PhJ MGP_PWKPhJ_G0018590
 protein coding gene Chr11:120394098-120432625 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018382
 protein coding gene Chr11:123636263-123675708 (+)
WSB/EiJ MGP_WSBEiJ_G0018876
 protein coding gene Chr11:123860980-123903088 (+)



Homology
more
  • Human Ortholog
    ASPSCR1, ASPSCR1 tether for SLC2A4, UBX domain containing
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASPSCR1, ASPSCR1 tether for SLC2A4, UBX domain containing
  • Synonyms
    ASPCR1, ASPL, ASPS, RCC17, TUG, UBXD9, UBXN9
  • Links
    NCBI Gene ID: 79058
    neXtProt AC: NX_Q9BZE9
    UniProt: Q9BZE9

  • Chr Location
    17q25.3; chr17:81976807-82017406 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ASPSCR1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 2 alleles in 2 genetic backgrounds
    12 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.
Muscle-specific knock-out mice show abnormal glucose homeostasis, increased susceptibility to obesity and reduced energy expenditure when fed a high-fat diet, and increased weight gain and fat mass when at thermoneutrality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • GO References
    5
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
membraneless 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
    710
  • Tissues
    4
  • cDNA Data
    92
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 68938 NCBI Gene Model | MGI Sequence Detail 36396 C57BL/6J ±  kb
    transcript NM_001363056 RefSeq | MGI Sequence Detail 2121 C57BL/6  
    polypeptide Q8VBT9 UniProt | EBI | MGI Sequence Detail 550 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 94
      cDNA 93
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2144062
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 1
      Gene Ontology 5
      Phenotypes 12
    • 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: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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory