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

Gene ID: 67285, updated on 5-Mar-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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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

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