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

Gene ID: 239420, updated on 5-Mar-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, Apr 2022]
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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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. CUB and Sushi multiple domains 3 regulates dendrite development. Mizukami T, et al. Neurosci Res, 2016 Sep. PMID 27033969
  3. 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
  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 (20) 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 membrane IEA
Inferred from Electronic Annotation
more info
  
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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