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    CWC27 CWC27 spliceosome associated cyclophilin [ Homo sapiens (human) ]

    Gene ID: 10283, updated on 27-Dec-2024

    Summary

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    Official Symbol
    CWC27provided by HGNC
    Official Full Name
    CWC27 spliceosome associated cyclophilinprovided by HGNC
    Primary source
    HGNC:HGNC:10664
    See related
    Ensembl:ENSG00000153015 MIM:617170; AllianceGenome:HGNC:10664
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RPSKA; NY-CO-10; SDCCAG10; SDCCAG-10
    Summary
    Predicted to enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Located in nucleoplasm. Part of U2-type precatalytic spliceosome and catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 2.3), brain (RPKM 1.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CWC27 in Genome Data Viewer
    Location:
    5q12.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (64768918..65018763)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (65589037..65838886)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (64064745..64314590)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:63986301-63986801 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:64001261-64002034 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:64002035-64002806 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64010595-64011198 Neighboring gene shisa like 2B Neighboring gene uncharacterized LOC124900985 Neighboring gene SREK1 interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16053 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:64063900-64065099 Neighboring gene MPRA-validated peak5266 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64236167-64236709 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64235623-64236166 Neighboring gene MPRA-validated peak5267 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:64327460-64328659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64331341-64331857 Neighboring gene Sharpr-MPRA regulatory region 13369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22601 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22603 Neighboring gene uncharacterized LOC107986419 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:64398316-64398816 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:64398817-64399317 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 6 Neighboring gene ribosomal protein L5 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature. Yassin SH, et al. Am J Med Genet A, 2023 May. PMID 36718996
    2. Structure and evolution of the spliceosomal peptidyl-prolyl cis-trans isomerase Cwc27. Ulrich A, et al. Acta Crystallogr D Biol Crystallogr, 2014 Dec 1. PMID 25478830
    3. Genome-Wide Association Study of Bladder Cancer in a Chinese Cohort Reveals a New Susceptibility Locus at 5q12.3. Wang M, et al. Cancer Res, 2016 Jun 1. PMID 27206850
    4. Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes. Busetto V, et al. Nucleic Acids Res, 2020 Jun 4. PMID 32329775, Free PMC Article
    5. 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

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature.
      Title: Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature.
    2. Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes.
      Title: Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes.
    3. CWC27 overexpression is associated with Bladder Cancer.
      Title: Genome-Wide Association Study of Bladder Cancer in a Chinese Cohort Reveals a New Susceptibility Locus at 5q12.3.
    4. By whole-exome sequencing, recessive protein-truncating mutations in CWC27 were found in seven unrelated families that show a range of clinical phenotypes, including retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurologic defects.
      Title: Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
    5. The crystal structure of a relatively protease-resistant N-terminal fragment of human Cwc27 containing the cyclophilin-type peptidyl-prolyl cis-trans isomerase domain was determined at 2.0 A resolution.
      Title: Structure and evolution of the spliceosomal peptidyl-prolyl cis-trans isomerase Cwc27.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
    MedGen: C1855188 OMIM: 250410 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables peptidyl-prolyl cis-trans isomerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of U2-type precatalytic spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    spliceosome-associated protein CWC27 homolog
    Names
    CWC27 spliceosome associated protein homolog
    PPIase CWC27
    PPIase SDCCAG10
    antigen NY-CO-10
    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_001284573.1
    NP_001284574.1
    NP_001304929.1
    NP_001351407.1
    NP_005860.2

    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_001297644.1 → NP_001284573.1  spliceosome-associated protein CWC27 homolog isoform 2

      See identical proteins and their annotated locations for NP_001284573.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which causes frameshift, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC012117, BG193598, BX647971
      Consensus CDS
      CCDS93720.1
      UniProtKB/TrEMBL
      A0A8I5KP46, A0A8I5KQK1
      Related
      ENSP00000509657.1, ENST00000691921.1
      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_001297645.2 → NP_001284574.1  spliceosome-associated protein CWC27 homolog isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several 3' exons and has an alternate 3' terminal exon, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus compared to variant 1.
      Source sequence(s)
      AC109465, AK225161, BC012117, BI324922, BX647971
      Consensus CDS
      CCDS75252.1
      UniProtKB/TrEMBL
      A0A8I5KT14, D6REK3
      Related
      ENSP00000426802.1, ENST00000508024.2
      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 ...

    3. NM_001318000.2 → NP_001304929.1  spliceosome-associated protein CWC27 homolog isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks several 3' exons and has an alternate 3' terminal exon, compared to variant 1. The resulting isoform (4) is shorter and has a distinct C-terminus compared to variant 1.
      Source sequence(s)
      AC109465, BX647971
      Consensus CDS
      CCDS93718.1
      UniProtKB/TrEMBL
      A0A8I5KRF5, A0A8I5KT14
      Related
      ENSP00000508985.1, ENST00000685023.1
      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 ...

    4. NM_001364478.1 → NP_001351407.1  spliceosome-associated protein CWC27 homolog isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (5) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC008898, AC109465
      Consensus CDS
      CCDS93719.1
      UniProtKB/TrEMBL
      A0A8I5KP46, A0A8I5KUW8
      Related
      ENSP00000510726.1, ENST00000692763.1
      Conserved Domains (2) 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 ...
      cl26951
      Location:239 → 348
      Pescadillo_N; Pescadillo N-terminus

    5. NM_005869.4 → NP_005860.2  spliceosome-associated protein CWC27 homolog isoform 1

      See identical proteins and their annotated locations for NP_005860.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK225105, BC012117, BG193598, BX647971
      Consensus CDS
      CCDS3982.2
      UniProtKB/Swiss-Prot
      O60529, O60530, Q6UX04, Q96EM3
      UniProtKB/TrEMBL
      A0A8I5KST0
      Related
      ENSP00000370460.2, ENST00000381070.8
      Conserved Domains (3) 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 ...
      pfam17380
      Location:302 → 472
      DUF5401; Family of unknown function (DUF5401)
      cd22288
      Location:376 → 428
      CWC27_CTD; C-terminal domain of spliceosome-associated protein CWC27 and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      64768918..65018763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      65589037..65838886
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UX04.1 GenPept UniProtKB/Swiss-Prot:Q6UX04

    Gene LinkOut

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

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