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    Csmd3 CUB and Sushi multiple domains 3 [ Mus musculus (house mouse) ]

    Gene ID: 239420, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Csmd3provided by MGI
    Official Full Name
    CUB and Sushi multiple domains 3provided by MGI
    Primary source
    MGI:MGI:2386403
    See related
    Ensembl:ENSMUSG00000022311 AllianceGenome:MGI:2386403
    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
    mKIAA1894; 4930500N14Rik
    Summary
    Involved in regulation of dendrite development. Located in plasma membrane. Is expressed in brain; heart ventricle; and lens. Orthologous to human CSMD3 (CUB and Sushi multiple domains 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in CNS E18 (RPKM 1.5), frontal lobe adult (RPKM 1.2) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Csmd3 in Genome Data Viewer
    Location:
    15 B3.3; 15 17.81 cM
    Exon count:
    72
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (47444034..48655954, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (47580638..48792558, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_38607 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene eukaryotic translation initiation factor 4B pseudogene Neighboring gene STARR-seq mESC enhancer starr_38608 Neighboring gene WD repeat domain 12 pseudogene Neighboring gene STARR-seq mESC enhancer starr_38609 Neighboring gene STARR-seq mESC enhancer starr_38610 Neighboring gene predicted gene, 23530 Neighboring gene STARR-seq mESC enhancer starr_38611 Neighboring gene autophagy-related 16-like 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_38612 Neighboring gene STARR-seq mESC enhancer starr_38613 Neighboring gene STARR-seq mESC enhancer starr_38614 Neighboring gene STARR-seq mESC enhancer starr_38616 Neighboring gene predicted gene, 25007 Neighboring gene STARR-seq mESC enhancer starr_38617 Neighboring gene predicted gene, 34336 Neighboring gene Ewing sarcoma breakpoint region 1 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. CSMD3 Deficiency Leads to Motor Impairments and Autism-Like Behaviors via Dysfunction of Cerebellar Purkinje Cells in Mice. Xi K, et al. J Neurosci, 2023 May 24. PMID 37037606, Free PMC Article
    2. A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1. Shimizu A, et al. Biochem Biophys Res Commun, 2003 Sep 12. PMID 12943675
    3. CUB and Sushi multiple domains 3 regulates dendrite development. Mizukami T, et al. Neurosci Res, 2016 Sep. PMID 27033969
    4. Functionally enigmatic genes: a case study of the brain ignorome. Pandey AK, et al. PLoS One, 2014. PMID 24523945, Free PMC Article
    5. Putative complement control protein CSMD3 dysfunction impairs synaptogenesis and induces neurodevelopmental disorders. Song W, et al. Brain Behav Immun, 2022 May. PMID 35245678

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CSMD3 Deficiency Leads to Motor Impairments and Autism-Like Behaviors via Dysfunction of Cerebellar Purkinje Cells in Mice.
      Title: CSMD3 Deficiency Leads to Motor Impairments and Autism-Like Behaviors via Dysfunction of Cerebellar Purkinje Cells in Mice.
    2. CSMD3 acts as a co-receptor of an unidentified membrane protein to regulate dendrite development.
      Title: CUB and Sushi multiple domains 3 regulates dendrite development.
    3. Csmd3 has relatively high and selective expression in the brain but as of 2014 has not been well-studied with respect to CNS function or disease associations. It is part of the core brain ignorome. The expression of Csmd3 is tightly linked with Scn3a in mouse hippocampus.
      Title: Functionally enigmatic genes: a case study of the brain ignorome.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of dendrite development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    CUB and sushi domain-containing protein 3
    Names
    CUB and sushi multiple domains protein 3

    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_001081391.2 → NP_001074860.2  CUB and sushi domain-containing protein 3

      See identical proteins and their annotated locations for NP_001074860.2

      Status: VALIDATED

      Source sequence(s)
      AC099596, AC099600, AC099711, AC101706, AC101771, AC129189, AC130669, AC137905, AC154881, AC157584, AC158907
      Consensus CDS
      CCDS49602.1
      UniProtKB/Swiss-Prot
      Q3USM6, Q80T79, Q8BVJ0, Q9D588
      UniProtKB/TrEMBL
      E9PWJ0
      Related
      ENSMUSP00000098235.4, ENSMUST00000100670.10
      Conserved Domains (5) summary
      cd00033
      Location:2817 → 2871
      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:2632 → 2689
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:3168 → 3407
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:1588 → 1695
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:3233 → 3286
      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_000081.7 Reference GRCm39 C57BL/6J

      Range
      47444034..48655954 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006520910.5 → XP_006520973.1  CUB and sushi domain-containing protein 3 isoform X5

      UniProtKB/TrEMBL
      E9PWJ0
      Conserved Domains (3) summary
      cd00033
      Location:534 → 588
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:3038 → 3277
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:1458 → 1565
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    2. XM_006520909.5 → XP_006520972.1  CUB and sushi domain-containing protein 3 isoform X4

      UniProtKB/TrEMBL
      E9PWJ0
      Related
      ENSMUSP00000124753.2, ENSMUST00000160658.8
      Conserved Domains (3) summary
      cd00033
      Location:560 → 614
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:3064 → 3303
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:1484 → 1591
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    3. XM_011245610.4 → XP_011243912.1  CUB and sushi domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      E9PWJ0
      Conserved Domains (3) summary
      cd00033
      Location:638 → 692
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:3142 → 3381
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:1562 → 1669
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    4. XM_011245611.4 → XP_011243913.1  CUB and sushi domain-containing protein 3 isoform X3

      UniProtKB/TrEMBL
      E9PWJ0
      Conserved Domains (3) summary
      cd00033
      Location:664 → 718
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:3098 → 3337
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:1588 → 1695
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    5. XM_036159395.1 → XP_036015288.1  CUB and sushi domain-containing protein 3 isoform X2

      UniProtKB/TrEMBL
      E9PWJ0
      Conserved Domains (3) summary
      cd00033
      Location:664 → 718
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:3136 → 3375
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:1588 → 1695
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    6. XM_030248540.2 → XP_030104400.1  CUB and sushi domain-containing protein 3 isoform X6

      UniProtKB/TrEMBL
      E9PWJ0
      Conserved Domains (3) summary
      cd00033
      Location:534 → 588
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:2968 → 3207
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:1458 → 1565
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    7. XM_006520912.4 → XP_006520975.1  CUB and sushi domain-containing protein 3 isoform X7

      UniProtKB/TrEMBL
      F6TRD7
      Conserved Domains (3) summary
      cd00033
      Location:133 → 187
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:2637 → 2876
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:1057 → 1164
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    8. XM_030248542.1 → XP_030104402.1  CUB and sushi domain-containing protein 3 isoform X10

      UniProtKB/TrEMBL
      F6TRD7
      Related
      ENSMUSP00000124195.2, ENSMUST00000161653.2
      Conserved Domains (4) summary
      cd00033
      Location:1011 → 1069
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:1784 → 2023
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:274 → 381
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00049
      Location:5 → 34
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    9. XM_030248541.1 → XP_030104401.1  CUB and sushi domain-containing protein 3 isoform X9

      UniProtKB/TrEMBL
      F6TRD7
      Conserved Domains (4) summary
      cd00033
      Location:1081 → 1139
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:1854 → 2093
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:274 → 381
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cl00049
      Location:5 → 34
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    10. XM_011245613.4 → XP_011243915.1  CUB and sushi domain-containing protein 3 isoform X8

      Conserved Domains (3) summary
      cd00033
      Location:664 → 718
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:2627 → 2872
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:1588 → 1695
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    RNA

    1. XR_001781523.3 RNA Sequence

    2. XR_003951374.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80T79.3 GenPept UniProtKB/Swiss-Prot:Q80T79

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