• Gene id: 23451

Gene Summary

• Gene Symbol: SF3B1   Gene   UCSC   Ensembl
• Aliases: Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155
• Gene name: splicing factor 3b subunit 1
• Alternate names: splicing factor 3B subunit 1, pre-mRNA processing 10, pre-mRNA splicing factor SF3b, 155 kDa subunit, spliceosome-associated protein 155, splicing factor 3b, subunit 1, 155kDa,
• Gene location: 2q33.1 (197435092: 197389783)     Exons: 27     NC_000002.12
• Gene summary(Entrez): This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-m
• OMIM: 605590

Protein Summary

• Protein general information: O75533  
  • Name: Splicing factor 3B subunit 1 (Pre mRNA splicing factor SF3b 155 kDa subunit) (SF3b155) (Spliceosome associated protein 155) (SAP 155)
  • Length: 1304  
  • Mass: 145830
• Sequence:

  MAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAATELEDDDDDYSSSTS
  LLGQKKPGYHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYKKHRRTMIISPERLDPFADGGKTPDPKMNAR
  TYMDVMREQHLTKEEREIRQQLAEKAKAGELKVVNGAAASQPPSKRKRRWDQTADQTPGATPKKLSSWDQAETPG
  HTPSLRWDETPGRAKGSETPGATPGSKIWDPTPSHTPAGAATPGRGDTPGHATPGHGGATSSARKNRWDETPKTE
  RDTPGHGSGWAETPRTDRGGDSIGETPTPGASKRKSRWDETPASQMGGSTPVLTPGKTPIGTPAMNMATPTPGHI
  MSMTPEQLQAWRWEREIDERNRPLSDEELDAMFPEGYKVLPPPAGYVPIRTPARKLTATPTPLGGMTGFHMQTED
  RTMKSVNDQPSGNLPFLKPDDIQYFDKLLVDVDESTLSPEEQKERKIMKLLLKIKNGTPPMRKAALRQITDKARE
  FGAGPLFNQILPLLMSPTLEDQERHLLVKVIDRILYKLDDLVRPYVHKILVVIEPLLIDEDYYARVEGREIISNL
  AKAAGLATMISTMRPDIDNMDEYVRNTTARAFAVVASALGIPSLLPFLKAVCKSKKSWQARHTGIKIVQQIAILM
  GCAILPHLRSLVEIIEHGLVDEQQKVRTISALAIAALAEAATPYGIESFDSVLKPLWKGIRQHRGKGLAAFLKAI
  GYLIPLMDAEYANYYTREVMLILIREFQSPDEEMKKIVLKVVKQCCGTDGVEANYIKTEILPPFFKHFWQHRMAL
  DRRNYRQLVDTTVELANKVGAAEIISRIVDDLKDEAEQYRKMVMETIEKIMGNLGAADIDHKLEEQLIDGILYAF
  QEQTTEDSVMLNGFGTVVNALGKRVKPYLPQICGTVLWRLNNKSAKVRQQAADLISRTAVVMKTCQEEKLMGHLG
  VVLYEYLGEEYPEVLGSILGALKAIVNVIGMHKMTPPIKDLLPRLTPILKNRHEKVQENCIDLVGRIADRGAEYV
  SAREWMRICFELLELLKAHKKAIRRATVNTFGYIAKAIGPHDVLATLLNNLKVQERQNRVCTTVAIAIVAETCSP
  FTVLPALMNEYRVPELNVQNGVLKSLSFLFEYIGEMGKDYIYAVTPLLEDALMDRDLVHRQTASAVVQHMSLGVY
  GFGCEDSLNHLLNYVWPNVFETSPHVIQAVMGALEGLRVAIGPCRMLQYCLQGLFHPARKVRDVYWKIYNSIYIG
  SQDALIAHYPRIYNDDKNTYIRYELDYIL

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR015016  IPR038737  
  • PDB: 2F9D 2F9J 2FHO 2PEH 3LQV 4OZ1 5IFE 5O9Z 5Z56 5Z57 5Z58 5ZYA 6AH0 6EN4 6FF4 6FF7 6N3E 6QX9
  • PDBsum: 2F9D 2F9J 2FHO 2PEH 3LQV 4OZ1 5IFE 5O9Z 5Z56 5Z57 5Z58 5ZYA 6AH0 6EN4 6FF4 6FF7 6N3E 6QX9
  • DIP: 29411
  • STRING: ENSP00000335321
• Other Databases: GeneCards:  SF3B1  Malacards:  SF3B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000245	spliceosomal complex assembly	IBA	biological process
GO:0005686	U2 snRNP	IBA	cellular component
GO:0071004	U2-type prespliceosome	IBA	cellular component
GO:0003729	mRNA binding	IBA	molecular function
GO:0005689	U12-type spliceosomal complex	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0005689	U12-type spliceosomal complex	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003729	mRNA binding	IEA	molecular function
GO:0000245	spliceosomal complex assembly	IEA	biological process
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0034693	U11/U12 snRNP	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0005686	U2 snRNP	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
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:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0045815	positive regulation of gene expression, epigenetic	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005681	spliceosomal complex	NAS	cellular component
GO:0000398	mRNA splicing, via spliceosome	NAS	biological process
GO:0000375	RNA splicing, via transesterification reactions	NAS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:1990935	splicing factor binding	IDA	molecular function
GO:0008380	RNA splicing	IC	biological process
GO:0003723	RNA binding	IDA	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	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Chronic myelomonocytic leukemia	KEGG:H02411
Myelodysplastic syndrome	KEGG:H01481
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Chronic myelomonocytic leukemia	KEGG:H02411
Myelodysplastic syndrome	KEGG:H01481
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			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