• Gene id: 6621

Gene Summary

• Gene Symbol: SNAPC4   Gene   UCSC   Ensembl
• Aliases: PTFalpha, SNAP190
• Gene name: small nuclear RNA activating complex polypeptide 4
• Alternate names: snRNA-activating protein complex subunit 4, PSE-binding factor subunit alpha, PTF subunit alpha, SNAPc 190 kDa subunit, SNAPc subunit 4, proximal sequence element-binding transcription factor subunit alpha, snRNA-activating protein complex 190 kDa subunit,
• Gene location: 9q34.3 (136400219: 136375568)     Exons: 14     NC_000009.12
• Gene summary(Entrez): This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promote
• OMIM: 602777

Protein Summary

• Protein general information: Q5SXM2  
  • Name: snRNA activating protein complex subunit 4 (SNAPc subunit 4) (Proximal sequence element binding transcription factor subunit alpha) (PSE binding factor subunit alpha) (PTF subunit alpha) (snRNA activating protein complex 190 kDa subunit) (SNAPc 190 kDa su
  • Length: 1469  
  • Mass: 159433
• Sequence:

  MDVDAEREKITQEIKELERILDPGSSGSHVEISESSLESDSEADSLPSEDLDPADPPISEEERWGEASNDEDDPK
  DKTLPEDPETCLQLNMVYQEVIQEKLAEANLLLAQNREQQEELMRDLAGSKGTKVKDGKSLPPSTYMGHFMKPYF
  KDKVTGVGPPANEDTREKAAQGIKAFEELLVTKWKNWEKALLRKSVVSDRLQRLLQPKLLKLEYLHQKQSKVSSE
  LERQALEKQGREAEKEIQDINQLPEEALLGNRLDSHDWEKISNINFEGSRSAEEIRKFWQNSEHPSINKQEWSRE
  EEERLQAIAAAHGHLEWQKIAEELGTSRSAFQCLQKFQQHNKALKRKEWTEEEDRMLTQLVQEMRVGSHIPYRRI
  VYYMEGRDSMQLIYRWTKSLDPGLKKGYWAPEEDAKLLQAVAKYGEQDWFKIREEVPGRSDAQCRDRYLRRLHFS
  LKKGRWNLKEEEQLIELIEKYGVGHWAKIASELPHRSGSQCLSKWKIMMGKKQGLRRRRRRARHSVRWSSTSSSG
  SSSGSSGGSSSSSSSSSEEDEPEQAQAGEGDRALLSPQYMVPDMDLWVPARQSTSQPWRGGAGAWLGGPAASLSP
  PKGSSASQGGSKEASTTAAAPGEETSPVQVPARAHGPVPRSAQASHSADTRPAGAEKQALEGGRRLLTVPVETVL
  RVLRANTAARSCTQKEQLRQPPLPTSSPGVSSGDSVARSHVQWLRHRATQSGQRRWRHALHRRLLNRRLLLAVTP
  WVGDVVVPCTQASQRPAVVQTQADGLREQLQQARLASTPVFTLFTQLFHIDTAGCLEVVRERKALPPRLPQAGAR
  DPPVHLLQASSSAQSTPGHLFPNVPAQEASKSASHKGSRRLASSRVERTLPQASLLASTGPRPKPKTVSELLQEK
  RLQEARAREATRGPVVLPSQLLVSSSVILQPPLPHTPHGRPAPGPTVLNVPLSGPGAPAAAKPGTSGSWQEAGTS
  AKDKRLSTMQALPLAPVFSEAEGTAPAASQAPALGPGQISVSCPESGLGQSQAPAASRKQGLPEAPPFLPAAPSP
  TPLPVQPLSLTHIGGPHVATSVPLPVTWVLTAQGLLPVPVPAVVSLPRPAGTPGPAGLLATLLPPLTETRAAQGP
  RAPALSSSWQPPANMNREPEPSCRTDTPAPPTHALSQSPAEADGSVAFVPGEAQVAREIPEPRTSSHADPPEAEP
  PWSGRLPAFGGVIPATEPRGTPGSPSGTQEPRGPLGLEKLPLRQPGPEKGALDLEKPPLPQPGPEKGALDLGLLS
  QEGEAATQQWLGGQRGVRVPLLGSRLPYQPPALCSLRALSGLLLHKKALEHKATSLVVGGEAERPAGALQASLGL
  VRGQLQDNPAYLLLRARFLAAFTLPALLATLAPQGVRTTLSVPSRVGSESEDEDLLSELELADRDGQPGCTTATC
  PIQGAPDSGKCSASSCLDTSNDPDDLDVLRTRHARHTRKRRRLV

• Structural information:
  • Protein Domains: (250..28-)
    (/note="Myb-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00133-)
    (289..34-)
    1 (/note="HTH-myb-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00625-)
    (344..39-)
    (/note="Myb-like-2)
    (/evidence="ECO:0000255|PROSITE-Pro-)
  • Interpro: IPR009057  IPR017877  IPR017930  IPR001005  
  • Prosite: PS51294 PS50090
  • CDD: cd00167
  • STRING: ENSP00000298532
• Other Databases: GeneCards:  SNAPC4  Malacards:  SNAPC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	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:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IC	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0042795	snRNA transcription by RNA polymerase II	IDA	biological process
GO:0019185	snRNA-activating protein complex	IDA	cellular component
GO:0042796	snRNA transcription by RNA polymerase III	IDA	biological process
GO:0019185	snRNA-activating protein complex	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
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