• Gene id: 10946

Gene Summary

• Gene Symbol: SF3A3   Gene   UCSC   Ensembl
• Aliases: PRP9, PRPF9, SAP61, SF3a60
• Gene name: splicing factor 3a subunit 3
• Alternate names: splicing factor 3A subunit 3, SAP 61, pre-mRNA splicing factor SF3a (60kD), spliceosome associated protein 61, splicing factor 3a, subunit 3, 60kD, splicing factor 3a, subunit 3, 60kDa,
• Gene location: 1p34.3 (37990021: 37956974)     Exons: 17     NC_000001.11
• Gene summary(Entrez): This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicin
• OMIM: 612722

Protein Summary

• Protein general information: Q12874  
  • Name: Splicing factor 3A subunit 3 (SF3a60) (Spliceosome associated protein 61) (SAP 61)
  • Length: 501  
  • Mass: 58849
  • Tissue specificity: Ubiquitous.
• Sequence:

  METILEQQRRYHEEKERLMDVMAKEMLTKKSTLRDQINSDHRTRAMQDRYMEVSGNLRDLYDDKDGLRKEELNAI
  SGPNEFAEFYNRLKQIKEFHRKHPNEICVPMSVEFEELLKARENPSEEAQNLVEFTDEEGYGRYLDLHDCYLKYI
  NLKASEKLDYITYLSIFDQLFDIPKERKNAEYKRYLEMLLEYLQDYTDRVKPLQDQNELFGKIQAEFEKKWENGT
  FPGWPKETSSALTHAGAHLDLSAFSSWEELASLGLDRLKSALLALGLKCGGTLEERAQRLFSTKGKSLESLDTSL
  FAKNPKSKGTKRDTERNKDIAFLEAQIYEYVEILGEQRHLTHENVQRKQARTGEEREEEEEEQISESESEDEENE
  IIYNPKNLPLGWDGKPIPYWLYKLHGLNINYNCEICGNYTYRGPKAFQRHFAEWRHAHGMRCLGIPNTAHFANVT
  QIEDAVSLWAKLKLQKASERWQPDTEEEYEDSSGNVVNKKTYEDLKRQGLL

• Structural information:
  • Interpro: IPR024598  IPR000690  IPR031776  IPR031774  IPR021966  
  • Prosite: PS50171
  • PDB: 2DT7 5Z56 5Z57 5Z58 6AH0 6AHD 6FF7 6QX9
  • PDBsum: 2DT7 5Z56 5Z57 5Z58 6AH0 6AHD 6FF7 6QX9
  • DIP: 882
  • STRING: ENSP00000362110
• Other Databases: GeneCards:  SF3A3  Malacards:  SF3A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006397	mRNA processing	IMP	biological process
GO:0005681	spliceosomal complex	IDA	cellular component
GO:0000389	mRNA 3'-splice site recognition	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0005681	spliceosomal complex	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
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:0005686	U2 snRNP	IDA	cellular component
GO:1903241	U2-type prespliceosome assembly	IDA	biological process
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0016607	nuclear speck	IDA	cellular component
GO:0000375	RNA splicing, via transesterification reactions	TAS	biological process
GO:0003723	RNA binding	HDA	molecular function
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
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq