• Gene id: 24148

Gene Summary

• Gene Symbol: PRPF6   Gene   UCSC   Ensembl
• Aliases: ANT-1, ANT1, C20orf14, Prp6, RP60, SNRNP102, TOM, U5-102K, hPrp6
• Gene name: pre-mRNA processing factor 6
• Alternate names: pre-mRNA-processing factor 6, PRP6 homolog, PRP6 pre-mRNA processing factor 6 homolog, U5 snRNP-associated 102 kDa protein, U5-102 kDa protein, androgen receptor N-terminal domain transactivating protein-1, p102 U5 small nuclear ribonucleoprotein particle-bindi,
• Gene location: 20q13.33 (63981131: 64033099)     Exons: 21     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between t
• OMIM: 613979

Protein Summary

• Protein general information: O94906  
  • Name: Pre mRNA processing factor 6 (Androgen receptor N terminal domain transactivating protein 1) (ANT 1) (PRP6 homolog) (U5 snRNP associated 102 kDa protein) (U5 102 kDa protein)
  • Length: 941  
  • Mass: 106925
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MNKKKKPFLGMPAPLGYVPGLGRGATGFTTRSDIGPARDANDPVDDRHAPPGKRTVGDQMKKNQAADDDDEDLND
  TNYDEFNGYAGSLFSSGPYEKDDEEADAIYAALDKRMDERRKERREQREKEEIEKYRMERPKIQQQFSDLKRKLA
  EVTEEEWLSIPEVGDARNKRQRNPRYEKLTPVPDSFFAKHLQTGENHTSVDPRQTQFGGLNTPYPGGLNTPYPGG
  MTPGLMTPGTGELDMRKIGQARNTLMDMRLSQVSDSVSGQTVVDPKGYLTDLNSMIPTHGGDINDIKKARLLLKS
  VRETNPHHPPAWIASARLEEVTGKLQVARNLIMKGTEMCPKSEDVWLEAARLQPGDTAKAVVAQAVRHLPQSVRI
  YIRAAELETDIRAKKRVLRKALEHVPNSVRLWKAAVELEEPEDARIMLSRAVECCPTSVELWLALARLETYENAR
  KVLNKARENIPTDRHIWITAAKLEEANGNTQMVEKIIDRAITSLRANGVEINREQWIQDAEECDRAGSVATCQAV
  MRAVIGIGIEEEDRKHTWMEDADSCVAHNALECARAIYAYALQVFPSKKSVWLRAAYFEKNHGTRESLEALLQRA
  VAHCPKAEVLWLMGAKSKWLAGDVPAARSILALAFQANPNSEEIWLAAVKLESENDEYERARRLLAKARSSAPTA
  RVFMKSVKLEWVQDNIRAAQDLCEEALRHYEDFPKLWMMKGQIEEQKEMMEKAREAYNQGLKKCPHSTPLWLLLS
  RLEEKIGQLTRARAILEKSRLKNPKNPGLWLESVRLEYRAGLKNIANTLMAKALQECPNSGILWSEAIFLEARPQ
  RRTKSVDALKKCEHDPHVLLAVAKLFWSQRKITKAREWFHRTVKIDSDLGDAWAFFYKFELQHGTEEQQEEVRKR
  CESAEPRHGELWCAVSKDIANWQKKIGDILRLVAGRIKNTF

• Structural information:
  • Interpro: IPR003107  IPR010491  IPR027108  IPR013026  IPR011990   IPR019734  
  • PDB: 3JCR 5O9Z 6AH0 6AHD 6QW6 6QX9
  • PDBsum: 3JCR 5O9Z 6AH0 6AHD 6QW6 6QX9
  • DIP: 29006
  • STRING: ENSP00000266079
• Other Databases: GeneCards:  PRPF6  Malacards:  PRPF6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000244	spliceosomal tri-snRNP complex assembly	IBA	biological process
GO:0046540	U4/U6 x U5 tri-snRNP complex	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
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:0016607	nuclear speck	IDA	cellular component
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0006396	RNA processing	IEA	biological process
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003723	RNA binding	IDA	molecular function
GO:0050681	androgen receptor binding	IPI	molecular function
GO:0006403	RNA localization	IMP	biological process
GO:0003713	transcription coactivator activity	IGI	molecular function
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: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:0043021	ribonucleoprotein complex binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000244	spliceosomal tri-snRNP complex assembly	IC	biological process
GO:0005682	U5 snRNP	IDA	cellular component
GO:0046540	U4/U6 x U5 tri-snRNP complex	IDA	cellular component
GO:0000244	spliceosomal tri-snRNP complex assembly	IMP	biological process
GO:0005654	nucleoplasm	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:0016020	membrane	HDA	cellular component
GO:0000375	RNA splicing, via transesterification reactions	NAS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0008380	RNA splicing	NAS	biological process
GO:0000245	spliceosomal complex assembly	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq