• Gene id: 6619

Gene Summary

• Gene Symbol: SNAPC3   Gene   UCSC   Ensembl
• Aliases: PTFbeta, SNAP50
• Gene name: small nuclear RNA activating complex polypeptide 3
• Alternate names: snRNA-activating protein complex subunit 3, PSE-binding factor subunit beta, PTF subunit beta, SNAPc 50 kDa subunit, SNAPc subunit 3, proximal sequence element-binding transcription factor subunit beta, small nuclear RNA activating complex, polypeptide 3, 50kD, ,
• Gene location: 9p22.3 (15422783: 15466748)     Exons: 11     NC_000009.12
• OMIM: 602348

Protein Summary

• Protein general information: Q92966  
  • Name: snRNA activating protein complex subunit 3 (SNAPc subunit 3) (Proximal sequence element binding transcription factor subunit beta) (PSE binding factor subunit beta) (PTF subunit beta) (Small nuclear RNA activating complex polypeptide 3) (snRNA activating
  • Length: 411  
  • Mass: 46753
• Sequence:

  MAEGSRGGPTCSGVGGRQDPVSGSGGCNFPEYELPELNTRAFHVGAFGELWRGRLRGAGDLSLREPPASALPGSQ
  AADSDREDAAVARDLDCSLEAAAELRAVCGLDKLKCLEDGEDPEVIPENTDLVTLGVRKRFLEHREETITIDRAC
  RQETFVYEMESHAIGKKPENSADMIEEGELILSVNILYPVIFHKHKEHKPYQTMLVLGSQKLTQLRDSIRCVSDL
  QIGGEFSNTPDQAPEHISKDLYKSAFFYFEGTFYNDKRYPECRDLSRTIIEWSESHDRGYGKFQTARMEDFTFND
  LCIKLGFPYLYCHQGDCEHVIVITDIRLVHHDDCLDRTLYPLLIKKHWLWTRKCFVCKMYTARWVTNNDSFAPED
  PCFFCDVCFRMLHYDSEGNKLGEFLAYPYVDPGTFN

• Structural information:
  • Interpro: IPR022042  
  • STRING: ENSP00000370200
• Other Databases: GeneCards:  SNAPC3  Malacards:  SNAPC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	contributes to
GO:0001006	RNA polymerase III type 3 promoter sequence-specific DNA binding	IBA	molecular function
GO:0001046	core promoter sequence-specific DNA binding	IBA	contributes to
GO:0019185	snRNA-activating protein complex	IBA	cellular component
GO:0042795	snRNA transcription by RNA polymerase II	IBA	biological process
GO:0042796	snRNA transcription by RNA polymerase III	IBA	biological process
GO:0003681	bent DNA binding	IBA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0006383	transcription by RNA polymerase III	TAS	biological process
GO:0009301	snRNA transcription	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:0042795	snRNA transcription by RNA polymerase II	TAS	biological process
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:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray