• Gene id: 51639

Gene Summary

• Gene Symbol: SF3B6   Gene   UCSC   Ensembl
• Aliases: CGI-110, HSPC175, Ht006, P14, SAP14, SAP14a, SF3B14, SF3B14a
• Gene name: splicing factor 3b subunit 6
• Alternate names: splicing factor 3B subunit 6, SF3b 14 kDa subunit, pre-mRNA branch site protein p14, spliceosome-associated protein, 14 kDa subunit, spliceosome-associated protein, 14-kDa, splicing factor 3B, 14 kDa subunit, splicing factor 3b, subunit 6, 14kDa,
• Gene location: 2p23.3 (24076325: 24067585)     Exons: 4     NC_000002.12
• Gene summary(Entrez): This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subu
• OMIM: 607835

Protein Summary

• Protein general information: Q9Y3B4  
  • Name: Splicing factor 3B subunit 6 (Pre mRNA branch site protein p14) (SF3b 14 kDa subunit) (SF3B14a) (Spliceosome associated protein, 14 kDa) (Splicing factor 3b, subunit 6, 14kDa)
  • Length: 125  
  • Mass: 14585
• Sequence:

  MAMQAAKRANIRLPPEVNRILYIRNLPYKITAEEMYDIFGKYGPIRQIRVGNTPETRGTAYVVYEDIFDAKNACD
  HLSGFNVCNRYLVVLYYNANRAFQKMDTKKKEEQLKLLKEKYGINTDPPK

• Structural information:
  • Protein Domains: (19..9-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012677  IPR035979  IPR000504  IPR034150  
  • Prosite: PS50102
  • CDD: cd12241
  • PDB: 2F9D 2F9J 2FHO 3LQV 5Z56 5Z57 5Z58 6AH0 6FF4 6FF7
  • PDBsum: 2F9D 2F9J 2FHO 3LQV 5Z56 5Z57 5Z58 6AH0 6FF4 6FF7
  • DIP: 44132
  • STRING: ENSP00000233468
• Other Databases: GeneCards:  SF3B6  Malacards:  SF3B6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005689	U12-type spliceosomal complex	IDA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0000398	mRNA splicing, via spliceosome	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:0005515	protein binding	IPI	molecular function
GO:0001825	blastocyst formation	IEA	biological process
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003729	mRNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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