• Gene id: 10283

Gene Summary

• Gene Symbol: CWC27   Gene   UCSC   Ensembl
• Aliases: NY-CO-10, RPSKA, SDCCAG-10, SDCCAG10
• Gene name: CWC27 spliceosome associated cyclophilin
• Alternate names: spliceosome-associated protein CWC27 homolog, 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 peptid,
• Gene location: 5q12.3 (64768917: 65018762)     Exons: 19     NC_000005.10
• OMIM: 617170

Protein Summary

• Protein general information: Q6UX04  
  • Name: Spliceosome associated protein CWC27 homolog (Antigen NY CO 10) (Probable inactive peptidyl prolyl cis trans isomerase CWC27 homolog) (PPIase CWC27) (Serologically defined colon cancer antigen 10)
  • Length: 472  
  • Mass: 53847
• Sequence:

  MSNIYIQEPPTNGKVLLKTTAGDIDIELWSKEAPKACRNFIQLCLEAYYDNTIFHRVVPGFIVQGGDPTGTGSGG
  ESIYGAPFKDEFHSRLRFNRRGLVAMANAGSHDNGSQFFFTLGRADELNNKHTIFGKVTGDTVYNMLRLSEVDID
  DDERPHNPHKIKSCEVLFNPFDDIIPREIKRLKKEKPEEEVKKLKPKGTKNFSLLSFGEEAEEEEEEVNRVSQSM
  KGKSKSSHDLLKDDPHLSSVPVVESEKGDAPDLVDDGEDESAEHDEYIDGDEKNLMRERIAKKLKKDTSANVKSA
  GEGEVEKKSVSRSEELRKEARQLKRELLAAKQKKVENAAKQAEKRSEEEEAPPDGAVAEYRREKQKYEALRKQQS
  KKGTSREDQTLALLNQFKSKLTQAIAETPENDIPETEVEDDEGWMSHVLQFEDKSRKVKDASMQDSDTFEIYDPR
  NPVNKRRREESKKLMREKKERR

• Structural information:
  • Protein Domains: (11..16-)
    (/note="PPIase-cyclophilin-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00156"-)
  • Interpro: IPR029000  IPR020892  IPR002130  
  • Prosite: PS00170 PS50072
  • PDB: 2HQ6 4R3E 5Z56 5Z58 6FF4 6FF7
  • PDBsum: 2HQ6 4R3E 5Z56 5Z58 6FF4 6FF7
  • STRING: ENSP00000370460
• Other Databases: GeneCards:  CWC27  Malacards:  CWC27

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000413	protein peptidyl-prolyl isomerization	IBA	biological process
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0016018	cyclosporin A binding	IDA	NOT|molecular function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IDA	NOT|molecular function
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process
GO:0006457	protein folding	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Retinitis pigmentosa with skeletal anomalies	KEGG:H02422
Retinitis pigmentosa with skeletal anomalies	KEGG:H02422
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray