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

Gene ID: 10283, updated on 7-Apr-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 peptidyl-prolyl isomerization. Located in nucleoplasm. Part of U2-type precatalytic spliceosome and catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 2.3), brain (RPKM 1.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
5q12.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (64768918..65018763)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (65589037..65838886)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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. 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
  3. 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
  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 (51) 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
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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)

Genotypes

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 cyclosporin A binding IDA
Inferred from Direct Assay
more info
 PubMed 
NOT enables peptidyl-prolyl cis-trans isomerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in mRNA splicing, via spliceosome IC
Inferred by Curator
more info
 PubMed 
involved_in protein folding IEA
Inferred from Electronic Annotation
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_2023_10

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

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