• Gene id: 6617

Gene Summary

• Gene Symbol: SNAPC1   Gene   UCSC   Ensembl
• Aliases: PTFgamma, SNAP43
• Gene name: small nuclear RNA activating complex polypeptide 1
• Alternate names: snRNA-activating protein complex subunit 1, PSE-binding factor subunit gamma, PTF subunit gamma, SNAPc 43 kDa subunit, SNAPc subunit 1, proximal sequence element-binding transcription factor subunit gamma, small nuclear RNA activating complex, polypeptide 1, 43,
• Gene location: 14q23.2 (61762419: 61796427)     Exons: 10     NC_000014.9
• OMIM: 600591

Protein Summary

• Protein general information: Q16533  
  • Name: snRNA activating protein complex subunit 1 (SNAPc subunit 1) (Proximal sequence element binding transcription factor subunit gamma) (PSE binding factor subunit gamma) (PTF subunit gamma) (Small nuclear RNA activating complex polypeptide 1) (snRNA activati
  • Length: 368  
  • Mass: 42994
• Sequence:

  MGTPPGLQTDCEALLSRFQETDSVRFEDFTELWRNMKFGTIFCGRMRNLEKNMFTKEALALAWRYFLPPYTFQIR
  VGALYLLYGLYNTQLCQPKQKIRVALKDWDEVLKFQQDLVNAQHFDAAYIFRKLRLDRAFHFTAMPKLLSYRMKK
  KIHRAEVTEEFKDPSDRVMKLITSDVLEEMLNVHDHYQNMKHVISVDKSKPDKALSLIKDDFFDNIKNIVLEHQQ
  WHKDRKNPSLKSKTNDGEEKMEGNSQETERCERAESLAKIKSKAFSVVIQASKSRRHRQVKLDSSDSDSASGQGQ
  VKATRKKEKKERLKPAGRKMSLRNKGNVQNIHKEDKPLSLSMPVITEEEENESLSGTEFTASKKRRKH

• Structural information:
  • Interpro: IPR019188  
  • DIP: 504
  • STRING: ENSP00000216294
• Other Databases: GeneCards:  SNAPC1  Malacards:  SNAPC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0042796	snRNA transcription by RNA polymerase III	IBA	biological process
GO:0042795	snRNA transcription by RNA polymerase II	IBA	biological process
GO:0019185	snRNA-activating protein complex	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
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:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component

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			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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881