• Gene id: 1477

Gene Summary

• Gene Symbol: CSTF1   Gene   UCSC   Ensembl
• Aliases: CstF-50, CstFp50
• Gene name: cleavage stimulation factor subunit 1
• Alternate names: cleavage stimulation factor subunit 1, CF-1 50 kDa subunit, CSTF 50 kDa subunit, cleavage stimulation factor 50 kDa subunit, cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD, cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa,
• Gene location: 20q13.2-q13.31 (114056736: 114088421)     Exons: 11     NC_000003.12
• Gene summary(Entrez): This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like
• OMIM: 600369

SNPs

rs13181

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45351661T>A
NC_000019.10   g.45351661T>G
NC_000019.9   g.45854919T>A
NC_000019.9   g.45854919T>G
NG_007067.2   g.23927A>T
NG_007067.2   g.23927A>C
NM_000400.4   c.2251A>T
NM_000400.4   c.2251A>C
NM_000400.3   c.2251A>T
NM_000400.3   c.2251A>C
XM_0115266  

Protein Summary

• Protein general information: Q05048  
  • Name: Cleavage stimulation factor subunit 1 (CF 1 50 kDa subunit) (Cleavage stimulation factor 50 kDa subunit) (CSTF 50 kDa subunit) (CstF 50)
  • Length: 431  
  • Mass: 48358
• Sequence:

  MYRTKVGLKDRQQLYKLIISQLLYDGYISIANGLINEIKPQSVCAPSEQLLHLIKLGMENDDTAVQYAIGRSDTV
  APGTGIDLEFDADVQTMSPEASEYETCYVTSHKGPCRVATYSRDGQLIATGSADASIKILDTERMLAKSAMPIEV
  MMNETAQQNMENHPVIRTLYDHVDEVTCLAFHPTEQILASGSRDYTLKLFDYSKPSAKRAFKYIQEAEMLRSISF
  HPSGDFILVGTQHPTLRLYDINTFQCFVSCNPQDQHTDAICSVNYNSSANMYVTGSKDGCIKLWDGVSNRCITTF
  EKAHDGAEVCSAIFSKNSKYILSSGKDSVAKLWEISTGRTLVRYTGAGLSGRQVHRTQAVFNHTEDYVLLPDERT
  ISLCCWDSRTAERRNLLSLGHNNIVRCIVHSPTNPGFMTCSDDFRARFWYRRSTTD

• Structural information:
  • Interpro: IPR032028  IPR038184  IPR015943  IPR001680  IPR019775   IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • PDB: 6B3X
  • PDBsum: 6B3X
  • STRING: ENSP00000217109
• Other Databases: GeneCards:  CSTF1  Malacards:  CSTF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005848	mRNA cleavage stimulating factor complex	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0006369	termination of RNA polymerase II transcription	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:0031124	mRNA 3'-end processing	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:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03015	mRNA surveillance pathway

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)
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