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    Cwc27 CWC27 spliceosome-associated protein [ Mus musculus (house mouse) ]

    Gene ID: 67285, updated on 9-May-2024

    Summary

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    Official Symbol
    Cwc27provided by MGI
    Official Full Name
    CWC27 spliceosome-associated proteinprovided by MGI
    Primary source
    MGI:MGI:1914535
    See related
    Ensembl:ENSMUSG00000021715 AllianceGenome:MGI:1914535
    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
    NY-CO-10; Sdccag10; 3110009E13Rik
    Summary
    Predicted to enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein peptidyl-prolyl isomerization. Located in nucleus. Is expressed in alimentary system; brain; genitourinary system; and trachea. Used to study retinitis pigmentosa. Orthologous to human CWC27 (CWC27 spliceosome associated cyclophilin). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E11.5 (RPKM 1.3), CNS E14 (RPKM 0.7) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cwc27 in Genome Data Viewer
    Location:
    13 D1; 13 56.64 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (104767648..104953649, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (104631140..104817110, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E4090 Neighboring gene STARR-positive B cell enhancer ABC_E9887 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:105076891-105077195 Neighboring gene centromere protein K Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 6 Neighboring gene STARR-seq mESC enhancer starr_35536 Neighboring gene STARR-seq mESC enhancer starr_35537 Neighboring gene predicted gene 8680 Neighboring gene STARR-seq mESC enhancer starr_35538 Neighboring gene STARR-seq mESC enhancer starr_35540 Neighboring gene predicted gene, 53810 Neighboring gene STARR-positive B cell enhancer mm9_chr13:105580054-105580355 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:105607138-105607403 Neighboring gene STARR-seq mESC enhancer starr_35542 Neighboring gene splicing regulatory glutamine/lysine-rich protein 1interacting protein 1 Neighboring gene shisa like 2B

    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. Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo. Bertrand RE, et al. Hum Mol Genet, 2022 Apr 22. PMID 34726245, Free PMC Article
    2. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Xu M, et al. Am J Hum Genet, 2017 Apr 6. PMID 28285769, Free PMC Article
    3. Defective folate metabolism causes germline epigenetic instability and distinguishes Hira as a phenotype inheritance biomarker. Blake GET, et al. Nat Commun, 2021 Jun 17. PMID 34140513, Free PMC Article
    4. Large-scale identification of mammalian proteins localized to nuclear sub-compartments. Sutherland HG, et al. Hum Mol Genet, 2001 Sep 1. PMID 11555636
    5. Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Collin GB, et al. Cells, 2020 Apr 10. PMID 32290105, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo.
      Title: Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo.
    2. Cwc27 mutant mice have significant embryonic lethality and severe phenotypes in the complete knockout mice while mice with a partial loss-of-function allele mimic the isolated retinal degeneration phenotype.
      Title: Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables peptidyl-prolyl cis-trans isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein folding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein peptidyl-prolyl isomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of U2-type precatalytic spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    spliceosome-associated protein CWC27 homolog
    Names
    CWC27 spliceosome-associated protein homolog
    PPIase CWC27
    PPIase SDCCAG10
    peptidyl-prolyl cis-trans isomerase CWC27 homolog
    peptidyl-prolyl cis-trans isomerase SDCCAG10
    probable inactive peptidyl-prolyl cis-trans isomerase CWC27 homolog
    serologically defined colon cancer antigen 10
    NP_001347023.1
    NP_080348.1
    XP_017171062.1
    XP_017171063.1

    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_001360094.1 → NP_001347023.1  spliceosome-associated protein CWC27 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC132905, AC137691
      Conserved Domains (1) summary
      cd01925
      Location:8 → 178
      cyclophilin_CeCYP16-like; cyclophilin_CeCYP16-like: cyclophilin-type peptidylprolyl cis- trans isomerase) (PPIase) domain similar to Caenorhabditis elegans cyclophilin 16. C. elegans CeCYP-16, compared to the archetypal cyclophilin Human cyclophilin A has, a reduced ...

    2. NM_026072.1 → NP_080348.1  spliceosome-associated protein CWC27 homolog isoform 1

      See identical proteins and their annotated locations for NP_080348.1

      Status: VALIDATED

      Source sequence(s)
      AK166770
      Consensus CDS
      CCDS26752.1
      UniProtKB/Swiss-Prot
      Q3TKY6, Q8BG42, Q8R158, Q9CXT1
      Related
      ENSMUSP00000022228.7, ENSMUST00000022228.13
      Conserved Domains (1) summary
      cd01925
      Location:8 → 178
      cyclophilin_CeCYP16-like; cyclophilin_CeCYP16-like: cyclophilin-type peptidylprolyl cis- trans isomerase) (PPIase) domain similar to Caenorhabditis elegans cyclophilin 16. C. elegans CeCYP-16, compared to the archetypal cyclophilin Human cyclophilin A has, a reduced ...

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      104767648..104953649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017315573.3 → XP_017171062.1  spliceosome-associated protein CWC27 homolog isoform X1

      Conserved Domains (1) summary
      cd01925
      Location:8 → 178
      cyclophilin_CeCYP16-like; cyclophilin-type peptidylprolyl cis- trans isomerase) (PPIase) domain similar to Caenorhabditis elegans cyclophilin 16. C. elegans CeCYP-16, compared to the archetypal cyclophilin Human cyclophilin A has, a reduced peptidylprolyl cis- trans isomerase ...

    2. XM_017315574.3 → XP_017171063.1  spliceosome-associated protein CWC27 homolog isoform X2

      Conserved Domains (1) summary
      cd01925
      Location:8 → 178
      cyclophilin_CeCYP16-like; cyclophilin-type peptidylprolyl cis- trans isomerase) (PPIase) domain similar to Caenorhabditis elegans cyclophilin 16. C. elegans CeCYP-16, compared to the archetypal cyclophilin Human cyclophilin A has, a reduced peptidylprolyl cis- trans isomerase ...

    RNA

    1. XR_004938061.1 RNA Sequence

    2. XR_001780799.3 RNA Sequence

    3. XR_004938056.1 RNA Sequence

    4. XR_004938058.1 RNA Sequence

    5. XR_004938059.1 RNA Sequence

    6. XR_001780798.3 RNA Sequence

    7. XR_003950469.2 RNA Sequence

    8. XR_001780800.3 RNA Sequence

    9. XR_004938060.1 RNA Sequence

    10. XR_004938057.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3TKY6.1 GenPept UniProtKB/Swiss-Prot:Q3TKY6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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