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Csmd1 CUB and Sushi multiple domains 1 [ Mus musculus (house mouse) ]

Gene ID: 94109, updated on 7-Apr-2024

Summary

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Official Symbol
Csmd1provided by MGI
Official Full Name
CUB and Sushi multiple domains 1provided by MGI
Primary source
MGI:MGI:2137383
See related
Ensembl:ENSMUSG00000060924 AllianceGenome:MGI:2137383
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
mKIAA1890; B930082H09
Summary
Acts upstream of or within several processes, including learning or memory; mammary gland branching involved in pregnancy; and reproductive structure development. Predicted to be located in membrane. Predicted to be integral component of membrane. Is expressed in brain; cerebral cortex; dorsal root ganglion; main olfactory bulb; and spinal cord. Used to study schizophrenia. Orthologous to human CSMD1 (CUB and Sushi multiple domains 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in cortex adult (RPKM 2.0), frontal lobe adult (RPKM 1.5) and 10 other tissues See more
Orthologs
human all
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Genomic context

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Location:
8 A1.1- A1.3; 8 8.38 cM
Exon count:
71
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (15942538..17586908, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (15892538..17535385, complement)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_20808 Neighboring gene STARR-seq mESC enhancer starr_20809 Neighboring gene STARR-seq mESC enhancer starr_20810 Neighboring gene predicted gene, 46033 Neighboring gene STARR-seq mESC enhancer starr_20813 Neighboring gene STARR-seq mESC enhancer starr_20814 Neighboring gene chromobox 1 pseudogene Neighboring gene predicted gene, 46073 Neighboring gene microRNA 3106 Neighboring gene predicted gene, 53402 Neighboring gene STARR-seq mESC enhancer starr_20815 Neighboring gene predicted gene 16347 Neighboring gene predicted gene, 18319 Neighboring gene predicted gene, 25278 Neighboring gene STARR-seq mESC enhancer starr_20817 Neighboring gene STARR-seq mESC enhancer starr_20818 Neighboring gene STARR-seq mESC enhancer starr_20819 Neighboring gene predicted gene, 39136 Neighboring gene STARR-seq mESC enhancer starr_20820 Neighboring gene STARR-seq mESC enhancer starr_20821 Neighboring gene STARR-seq mESC enhancer starr_20822 Neighboring gene predicted gene, 39137 Neighboring gene STARR-seq mESC enhancer starr_20825 Neighboring gene STARR-seq mESC enhancer starr_20828 Neighboring gene STARR-seq mESC enhancer starr_20829 Neighboring gene heat shock protein 1 (chaperonin) pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Altered CSMD1 Expression Alters Cocaine-Conditioned Place Preference: Mutual Support for a Complex Locus from Human and Mouse Models. Drgonova J, et al. PLoS One, 2015. PMID 26171607, Free PMC Article
  2. Assessment of behaviors modeling aspects of schizophrenia in Csmd1 mutant mice. Distler MG, et al. PLoS One, 2012. PMID 23284669, Free PMC Article
  3. Neuropsychological deficits in mice depleted of the schizophrenia susceptibility gene CSMD1. Steen VM, et al. PLoS One, 2013. PMID 24244513, Free PMC Article
  4. Transcript map of the 8p23 putative tumor suppressor region. Sun PC, et al. Genomics, 2001 Jul. PMID 11472063
  5. Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility. Lee AS, et al. Nat Commun, 2019 Oct 11. PMID 31604923, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Tumor suppressor role of the complement inhibitor CSMD1 and its role in TNF-induced neuroinflammation in gliomas.
    Title: Tumor suppressor role of the complement inhibitor CSMD1 and its role in TNF-induced neuroinflammation in gliomas.
  2. effect of deleting CSMD1 on mouse behavior
    Title: Assessment of behaviors modeling aspects of schizophrenia in Csmd1 mutant mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (5) 

General gene information

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Markers

Homology

Clone Names

  • KIAA1890

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within conditioned place preference IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within female gonad development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within glucose homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within male gonad development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within mammary gland branching involved in pregnancy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within memory IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within oviduct epithelium development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within startle response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
CUB and sushi domain-containing protein 1
Names
CUB and sushi multiple domains protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_053171.2 → NP_444401.2  CUB and sushi domain-containing protein 1 precursor

    See identical proteins and their annotated locations for NP_444401.2

    Status: VALIDATED

    Source sequence(s)
    AC101229, AC154107, AK081081, AK134585, AK220429, AY017475
    Consensus CDS
    CCDS40244.1
    UniProtKB/Swiss-Prot
    E9QK23, Q8BUV1, Q8BYQ3, Q923L3
    Related
    ENSMUSP00000080751.7, ENSMUST00000082104.7
    Conserved Domains (5) summary
    cd00033
    Location:2680 → 2734
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:2087 → 2142
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:2619 → 2855
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:758 → 865
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:2978 → 3032
    Sushi; Sushi repeat (SCR repeat)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    15942538..17586908 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006508931.5 → XP_006508994.2  CUB and sushi domain-containing protein 1 isoform X2

    Conserved Domains (4) summary
    cd00033
    Location:563 → 617
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:2123 → 2178
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:2655 → 2891
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:794 → 901
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

  2. XM_036154398.1 → XP_036010291.1  CUB and sushi domain-containing protein 1 isoform X1

    Conserved Domains (4) summary
    cd00033
    Location:563 → 617
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:2123 → 2178
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:2655 → 2891
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:794 → 901
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

  3. XM_030243874.1 → XP_030099734.1  CUB and sushi domain-containing protein 1 isoform X4

    Conserved Domains (6) summary
    cd00033
    Location:1681 → 1734
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:909 → 964
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:1441 → 1677
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:273 → 378
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:1080 → 1137
    Sushi; Sushi repeat (SCR repeat)
    cl00049
    Location:4 → 33
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

  4. XM_036154399.1 → XP_036010292.1  CUB and sushi domain-containing protein 1 isoform X3

    Conserved Domains (4) summary
    cd00033
    Location:563 → 617
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:2123 → 2178
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:2488 → 2653
    PHA02927; secreted complement-binding protein; Provisional
    cd00041
    Location:794 → 901
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q923L3.2 GenPept UniProtKB/Swiss-Prot:Q923L3

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