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

Gene ID: 10283, updated on 10-Dec-2019

Summary

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
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
Expression
Ubiquitous expression in testis (RPKM 2.3), brain (RPKM 1.8) and 25 other tissues See more
Orthologs

Genomic context

See CWC27 in Genome Data Viewer
Location:
5q12.3
Exon count:
19
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (64768918..65018763)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (64064755..64314590)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L49 pseudogene 1 Neighboring gene shisa like 2B Neighboring gene SREK1 interacting protein 1 Neighboring gene uncharacterized LOC107986419 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 6 Neighboring gene ribosomal protein L5 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Retinitis pigmentosa with or without skeletal anomalies
MedGen: C1855188 OMIM: 250410 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystem (from REACTOME)
    Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystemCo-transcriptional pre-mRNA splicing is not obligatory. Pre-mRNA splicing begins co-transcriptionally and often continues post-transcriptionally. Human genes contain an average of nine introns per ge...
  • mRNA Splicing, organism-specific biosystem (from REACTOME)
    mRNA Splicing, organism-specific biosystemThe process in which excision of introns from the primary transcript of messenger RNA (mRNA) is followed by ligation of the two exon termini exposed by removal of each intron, is called mRNA splicing...
  • mRNA Splicing - Major Pathway, organism-specific biosystem (from REACTOME)
    mRNA Splicing - Major Pathway, organism-specific biosystemThe splicing of pre-mRNA occurs within a large, very dynamic complex, designated the 'spliceosome'. The 50-60S spliceosomes are estimated to be 40-60 nm in diameter, and have molecular weights in the...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT cyclosporin A binding IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-prolyl cis-trans isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT peptidyl-prolyl cis-trans isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
mRNA splicing, via spliceosome IC
Inferred by Curator
more info
PubMed 
mRNA splicing, via spliceosome TAS
Traceable Author Statement
more info
 
protein folding IEA
Inferred from Electronic Annotation
more info
 
protein peptidyl-prolyl isomerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
U2-type precatalytic spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

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
XP_011541397.2
XP_011541398.1

NCBI Reference Sequences (RefSeq)

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_001297644.1NP_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
    UniProtKB/Swiss-Prot
    Q6UX04
    Conserved Domains (1) summary
    cd01925
    Location:8178
    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_001297645.1NP_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)
    AK225161, BC012117, BI324922, BX647971
    Consensus CDS
    CCDS75252.1
    UniProtKB/Swiss-Prot
    Q6UX04
    UniProtKB/TrEMBL
    D6REK3
    Related
    ENSP00000426802.1, ENST00000508024.1
    Conserved Domains (1) summary
    cd01925
    Location:8178
    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_001318000.1NP_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
    Conserved Domains (1) summary
    cd01925
    Location:8178
    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_001364478.1NP_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
    Conserved Domains (2) summary
    cd01925
    Location:8178
    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:239348
    Pescadillo_N; Pescadillo N-terminus
  5. NM_005869.4NP_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
    Q6UX04
    Related
    ENSP00000370460.2, ENST00000381070.8
    Conserved Domains (2) summary
    cd01925
    Location:8178
    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:277472
    DUF5401; Family of unknown function (DUF5401)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011543095.3XP_011541397.2  spliceosome-associated protein CWC27 homolog isoform X1

  2. XM_011543096.2XP_011541398.1  spliceosome-associated protein CWC27 homolog isoform X3

    Conserved Domains (1) summary
    cd01925
    Location:8178
    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 ...
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