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Csmd1 Gene Detail
Summary
  • Symbol
    Csmd1
  • Name
    CUB and Sushi multiple domains 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2137383
    NCBI Gene: 94109
  • Alliance
    gene page
  • Transcription Start Sites
    31 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:15942537-17585602 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 8.38 cM, cytoband A2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    51938 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2137383
 protein coding gene Chr8:15942537-17586908 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033402
 protein coding gene Chr8:13270563-14951995 (-)
A/J MGP_AJ_G0033383
 protein coding gene Chr8:12860018-14470202 (-)
AKR/J MGP_AKRJ_G0033313
 protein coding gene Chr8:13182907-14863639 (-)
BALB/cJ MGP_BALBcJ_G0033383
 protein coding gene Chr8:12932465-14561481 (-)
C3H/HeJ MGP_C3HHeJ_G0033096
 protein coding gene Chr8:13408290-15073461 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033895
 protein coding gene Chr8:13746744-15462188 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030861
 protein coding gene Chr8:12228762-13825715 (-)
CAST/EiJ MGP_CASTEiJ_G0032418
 protein coding gene Chr8:13201943-14916891 (-)
CBA/J MGP_CBAJ_G0033069
 protein coding gene Chr8:14310920-16113205 (-)
DBA/2J MGP_DBA2J_G0033223
 protein coding gene Chr8:12778730-14396078 (-)
FVB/NJ MGP_FVBNJ_G0033171
 protein coding gene Chr8:12823928-14446062 (-)
LP/J MGP_LPJ_G0033316
 protein coding gene Chr8:13267508-14963124 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033208
 protein coding gene Chr8:14519742-16300250 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033912
 protein coding gene Chr8:13242568-14884616 (-)
PWK/PhJ MGP_PWKPhJ_G0032131
 protein coding gene Chr8:12820068-14437996 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031972
 protein coding gene Chr8:13156090-14820621 (-)
WSB/EiJ MGP_WSBEiJ_G0032534
 protein coding gene Chr8:13312266-14989773 (-)



Homology
more
  • Human Ortholog
    CSMD1, CUB and Sushi multiple domains 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CSMD1, CUB and Sushi multiple domains 1
  • Synonyms
    PPP1R24
  • Links
    NCBI Gene ID: 64478
    neXtProt AC: NX_Q96PZ7
    UniProt: Q96PZ7

  • Chr Location
    8p23.2; chr8:2935353-4994972 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Csmd1 mouse models

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
    13 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.
Mice exhibit normal pre-pulse inhibition, social interaction, sucrose preference and d-amphetamine sensitivity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    5
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
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
    712
  • Tissues
    6
  • cDNA Data
    9
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000060924 Ensembl Gene Model | MGI Sequence Detail 1643066 C57BL/6J ±  kb
    transcript ENSMUST00000082104 Ensembl | MGI Sequence Detail 14182 Not Applicable  
    polypeptide ENSMUSP00000080751 Ensembl | MGI Sequence Detail 3564 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000005939 CUB and sushi domain-containing protein 1
      (term hierarchy)
    • InterPro Domains
      IPR000859 CUB domain
      IPR051277 SEZ6/CSMD/C4BPB Neuronal & Immune Regulators
      IPR035914 Spermadhesin, CUB domain superfamily
      IPR000436 Sushi/SCR/CCP domain
      IPR035976 Sushi/SCR/CCP superfamily
    • GlyGen
      Q923L3 41 sites, 17 N-linked glycans (16 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 13

      Microarray probesets 4
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 5
      Phenotypes 17
    • Earliest
      J:70242 Sun PC, et al., Transcript map of the 8p23 putative tumor suppressor region. Genomics. 2001 Jul;75(1-3):17-25
    • 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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory