• Gene id: 10291

Gene Summary

• Gene Symbol: SF3A1   Gene   UCSC   Ensembl
• Aliases: PRP21, PRPF21, SAP114, SF3A120
• Gene name: splicing factor 3a subunit 1
• Alternate names: splicing factor 3A subunit 1, SAP 114, pre-mRNA processing 21, pre-mRNA splicing factor SF3a (120 kDa subunit), spliceosome-associated protein 114, splicing factor 3 subunit 1, splicing factor 3a, subunit 1, 120kD, splicing factor 3a, subunit 1, 120kDa,
• Gene location: 22q12.2 (30356893: 30331987)     Exons: 16     NC_000022.11
• Gene summary(Entrez): This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in splice
• OMIM: 605595

Protein Summary

• Protein general information: Q15459  
  • Name: Splicing factor 3A subunit 1 (SF3a120) (Spliceosome associated protein 114) (SAP 114)
  • Length: 793  
  • Mass: 88886
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MPAGPVQAVPPPPPVPTEPKQPTEEEASSKEDSAPSKPVVGIIYPPPEVRNIVDKTASFVARNGPEFEARIRQNE
  INNPKFNFLNPNDPYHAYYRHKVSEFKEGKAQEPSAAIPKVMQQQQQTTQQQLPQKVQAQVIQETIVPKEPPPEF
  EFIADPPSISAFDLDVVKLTAQFVARNGRQFLTQLMQKEQRNYQFDFLRPQHSLFNYFTKLVEQYTKILIPPKGL
  FSKLKKEAENPREVLDQVCYRVEWAKFQERERKKEEEEKEKERVAYAQIDWHDFVVVETVDFQPNEQGNFPPPTT
  PEELGARILIQERYEKFGESEEVEMEVESDEEDDKQEKAEEPPSQLDQDTQVQDMDEGSDDEEEGQKVPPPPETP
  MPPPLPPTPDQVIVRKDYDPKASKPLPPAPAPDEYLVSPITGEKIPASKMQEHMRIGLLDPRWLEQRDRSIREKQ
  SDDEVYAPGLDIESSLKQLAERRTDIFGVEETAIGKKIGEEEIQKPEEKVTWDGHSGSMARTQQAAQANITLQEQ
  IEAIHKAKGLVPEDDTKEKIGPSKPNEIPQQPPPPSSATNIPSSAPPITSVPRPPTMPPPVRTTVVSAVPVMPRP
  PMASVVRLPPGSVIAPMPPIIHAPRINVVPMPPSAPPIMAPRPPPMIVPTAFVPAPPVAPVPAPAPMPPVHPPPP
  MEDEPTSKKLKTEDSLMPEEEFLRRNKGPVSIKVQVPNMQDKTEWKLNGQVLVFTLPLTDQVSVIKVKIHEATGM
  PAGKQKLQYEGIFIKDSNSLAYYNMANGAVIHLALKERGGRKK

• Structural information:
  • Protein Domains: (707..79-)
    (/note="Ubiquitin-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00214"-)
  • Interpro: IPR022030  IPR000061  IPR035967  IPR000626  IPR029071  
  • Prosite: PS50128 PS50053
  • PDB: 1ZKH 2DT6 2DT7 5Z56 5Z57 5Z58 6AH0 6AHD 6FF7 6QX9
  • PDBsum: 1ZKH 2DT6 2DT7 5Z56 5Z57 5Z58 6AH0 6AHD 6FF7 6QX9
  • DIP: 29164
  • STRING: ENSP00000215793
• Other Databases: GeneCards:  SF3A1  Malacards:  SF3A1

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:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0071004	U2-type prespliceosome	IBA	cellular component
GO:0005686	U2 snRNP	IBA	cellular component
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:1903241	U2-type prespliceosome assembly	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0071004	U2-type prespliceosome	IDA	cellular component
GO:0005686	U2 snRNP	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:0006396	RNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	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: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:0016607	nuclear speck	IDA	cellular component
GO:0005686	U2 snRNP	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0005684	U2-type spliceosomal complex	IDA	cellular component
GO:0003723	RNA binding	IDA	molecular function
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
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