• Gene id: 51362

Gene Summary

• Gene Symbol: CDC40   Gene   UCSC   Ensembl
• Aliases: EHB3, PRP17, PRPF17
• Gene name: cell division cycle 40
• Alternate names: pre-mRNA-processing factor 17, EH-binding protein 3, PRP17 homolog, cell division cycle 40 homolog, hPRP17, pre-mRNA splicing factor 17,
• Gene location: 6q21 (110180426: 110232231)     Exons: 15     NC_000006.12
• Gene summary(Entrez): Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which fu
• OMIM: 605585

Protein Summary

• Protein general information: O60508  
  • Name: Pre mRNA processing factor 17 (Cell division cycle 40 homolog) (EH binding protein 3) (Ehb3) (PRP17 homolog) (hPRP17)
  • Length: 579  
  • Mass: 65521
• Sequence:

  MSAAIAALAASYGSGSGSESDSDSESSRCPLPAADSLMHLTKSPSSKPSLAVAVDSAPEVAVKEDLETGVHLDPA
  VKEVQYNPTYETMFAPEFGPENPFRTQQMAAPRNMLSGYAEPAHINDFMFEQQRRTFATYGYALDPSLDNHQVSA
  KYIGSVEEAEKNQGLTVFETGQKKTEKRKKFKENDASNIDGFLGPWAKYVDEKDVAKPSEEEQKELDEITAKRQK
  KGKQEEEKPGEEKTILHVKEMYDYQGRSYLHIPQDVGVNLRSTMPPEKCYLPKKQIHVWSGHTKGVSAVRLFPLS
  GHLLLSCSMDCKIKLWEVYGERRCLRTFIGHSKAVRDICFNTAGTQFLSAAYDRYLKLWDTETGQCISRFTNRKV
  PYCVKFNPDEDKQNLFVAGMSDKKIVQWDIRSGEIVQEYDRHLGAVNTIVFVDENRRFVSTSDDKSLRVWEWDIP
  VDFKYIAEPSMHSMPAVTLSPNGKWLACQSMDNQILIFGAQNRFRLNKKKIFKGHMVAGYACQVDFSPDMSYVIS
  GDGNGKLNIWDWKTTKLYSRFKAHDKVCIGAVWHPHETSKVITCGWDGLIKLWD

• Structural information:
  • Interpro: IPR032847  IPR015943  IPR001680  IPR019775  IPR017986   IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • PDB: 5MQF 5XJC 5YZG 5Z56 5Z57 6FF4 6FF7 6ICZ 6ID0 6ID1 6QDV
  • PDBsum: 5MQF 5XJC 5YZG 5Z56 5Z57 6FF4 6FF7 6ICZ 6ID0 6ID1 6QDV
  • STRING: ENSP00000357928
• Other Databases: GeneCards:  CDC40  Malacards:  CDC40

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0071007	U2-type catalytic step 2 spliceosome	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0071013	catalytic step 2 spliceosome	IEA	cellular component
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0031124	mRNA 3'-end processing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R