• Gene id: 10594

Gene Summary

• Gene Symbol: PRPF8   Gene   UCSC   Ensembl
• Aliases: HPRP8, PRP8, PRPC8, RP13, SNRNP220
• Gene name: pre-mRNA processing factor 8
• Alternate names: pre-mRNA-processing-splicing factor 8, 220 kDa U5 snRNP-specific protein, PRP8 homolog, PRP8 pre-mRNA processing factor 8 homolog, U5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8p, apoptosis-regulated protein 1, apoptosis-regulated protein 2, ,
• Gene location: 17p13.3 (1684879: 1650628)     Exons: 43     NC_000017.11
• Gene summary(Entrez): Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains s
• OMIM: 607300

Protein Summary

• Protein general information: Q6P2Q9  
  • Name: Pre mRNA processing splicing factor 8 (220 kDa U5 snRNP specific protein) (PRP8 homolog) (Splicing factor Prp8) (p220)
  • Length: 2335  
  • Mass: 273600
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAGVFPYRGPGNPVPGPLAPLPDYMSEEKLQEKARKWQQLQAKRYAEKRKFGFVDAQKEDMPPEHVRKIIRDHGD
  MTNRKFRHDKRVYLGALKYMPHAVLKLLENMPMPWEQIRDVPVLYHITGAISFVNEIPWVIEPVYISQWGSMWIM
  MRREKRDRRHFKRMRFPPFDDEEPPLDYADNILDVEPLEAIQLELDPEEDAPVLDWFYDHQPLRDSRKYVNGSTY
  QRWQFTLPMMSTLYRLANQLLTDLVDDNYFYLFDLKAFFTSKALNMAIPGGPKFEPLVRDINLQDEDWNEFNDIN
  KIIIRQPIRTEYKIAFPYLYNNLPHHVHLTWYHTPNVVFIKTEDPDLPAFYFDPLINPISHRHSVKSQEPLPDDD
  EEFELPEFVEPFLKDTPLYTDNTANGIALLWAPRPFNLRSGRTRRALDIPLVKNWYREHCPAGQPVKVRVSYQKL
  LKYYVLNALKHRPPKAQKKRYLFRSFKATKFFQSTKLDWVEVGLQVCRQGYNMLNLLIHRKNLNYLHLDYNFNLK
  PVKTLTTKERKKSRFGNAFHLCREVLRLTKLVVDSHVQYRLGNVDAFQLADGLQYIFAHVGQLTGMYRYKYKLMR
  QIRMCKDLKHLIYYRFNTGPVGKGPGCGFWAAGWRVWLFFMRGITPLLERWLGNLLARQFEGRHSKGVAKTVTKQ
  RVESHFDLELRAAVMHDILDMMPEGIKQNKARTILQHLSEAWRCWKANIPWKVPGLPTPIENMILRYVKAKADWW
  TNTAHYNRERIRRGATVDKTVCKKNLGRLTRLYLKAEQERQHNYLKDGPYITAEEAVAVYTTTVHWLESRRFSPI
  PFPPLSYKHDTKLLILALERLKEAYSVKSRLNQSQREELGLIEQAYDNPHEALSRIKRHLLTQRAFKEVGIEFMD
  LYSHLVPVYDVEPLEKITDAYLDQYLWYEADKRRLFPPWIKPADTEPPPLLVYKWCQGINNLQDVWETSEGECNV
  MLESRFEKMYEKIDLTLLNRLLRLIVDHNIADYMTAKNNVVINYKDMNHTNSYGIIRGLQFASFIVQYYGLVMDL
  LVLGLHRASEMAGPPQMPNDFLSFQDIATEAAHPIRLFCRYIDRIHIFFRFTADEARDLIQRYLTEHPDPNNENI
  VGYNNKKCWPRDARMRLMKHDVNLGRAVFWDIKNRLPRSVTTVQWENSFVSVYSKDNPNLLFNMCGFECRILPKC
  RTSYEEFTHKDGVWNLQNEVTKERTAQCFLRVDDESMQRFHNRVRQILMASGSTTFTKIVNKWNTALIGLMTYFR
  EAVVNTQELLDLLVKCENKIQTRIKIGLNSKMPSRFPPVVFYTPKELGGLGMLSMGHVLIPQSDLRWSKQTDVGI
  THFRSGMSHEEDQLIPNLYRYIQPWESEFIDSQRVWAEYALKRQEAIAQNRRLTLEDLEDSWDRGIPRINTLFQK
  DRHTLAYDKGWRVRTDFKQYQVLKQNPFWWTHQRHDGKLWNLNNYRTDMIQALGGVEGILEHTLFKGTYFPTWEG
  LFWEKASGFEESMKWKKLTNAQRSGLNQIPNRRFTLWWSPTINRANVYVGFQVQLDLTGIFMHGKIPTLKISLIQ
  IFRAHLWQKIHESIVMDLCQVFDQELDALEIETVQKETIHPRKSYKMNSSCADILLFASYKWNVSRPSLLADSKD
  VMDSTTTQKYWIDIQLRWGDYDSHDIERYARAKFLDYTTDNMSIYPSPTGVLIAIDLAYNLHSAYGNWFPGSKPL
  IQQAMAKIMKANPALYVLRERIRKGLQLYSSEPTEPYLSSQNYGELFSNQIIWFVDDTNVYRVTIHKTFEGNLTT
  KPINGAIFIFNPRTGQLFLKIIHTSVWAGQKRLGQLAKWKTAEEVAALIRSLPVEEQPKQIIVTRKGMLDPLEVH
  LLDFPNIVIKGSELQLPFQACLKVEKFGDLILKATEPQMVLFNLYDDWLKTISSYTAFSRLILILRALHVNNDRA
  KVILKPDKTTITEPHHIWPTLTDEEWIKVEVQLKDLILADYGKKNNVNVASLTQSEIRDIILGMEISAPSQQRQQ
  IAEIEKQTKEQSQLTATQTRTVNKHGDEIITSTTSNYETQTFSSKTEWRVRAISAANLHLRTNHIYVSSDDIKET
  GYTYILPKNVLKKFICISDLRAQIAGYLYGVSPPDNPQVKEIRCIVMVPQWGTHQTVHLPGQLPQHEYLKEMEPL
  GWIHTQPNESPQLSPQDVTTHAKIMADNPSWDGEKTIIITCSFTPGSCTLTAYKLTPSGYEWGRQNTDKGNNPKG
  YLPSHYERVQMLLSDRFLGFFMVPAQSSWNYNFMGVRHDPNMKYELQLANPKEFYHEVHRPSHFLNFALLQEGEV
  YSADREDLYA

• Structural information:
  • Protein Domains: (2103..223-)
    (/note="MPN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01182"-)
  • Interpro: IPR000555  IPR037518  IPR012591  IPR012592  IPR012984   IPR027652  IPR021983  IPR019581  IPR042516  IPR019580  IPR012337  IPR019582  
  • Prosite: PS50249
  • CDD: cd13838
  • PDB: 3E9L 3ENB 3JCR 3LRU 4JK7 4JK8 4JK9 4JKA 4JKB 4JKC 4JKD 4JKE 4JKF 4JKG 4JKH 4KIT 5MQF 5O9Z 5XJC 5YZG 5Z56 5Z57 5Z58 6AH0 6AHD 6FF4 6FF7 6ICZ 6ID0 6ID1 6QDV 6QW6 6QX9 6S8Q 6S9I
  • PDBsum: 3E9L 3ENB 3JCR 3LRU 4JK7 4JK8 4JK9 4JKA 4JKB 4JKC 4JKD 4JKE 4JKF 4JKG 4JKH 4KIT 5MQF 5O9Z 5XJC 5YZG 5Z56 5Z57 5Z58 6AH0 6AHD 6FF4 6FF7 6ICZ 6ID0 6ID1 6QDV 6QW6 6QX9 6S8Q 6S9I
  • DIP: 29614
  • STRING: ENSP00000460348
• Other Databases: GeneCards:  PRPF8  Malacards:  PRPF8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0000244	spliceosomal tri-snRNP complex assembly	IBA	biological process
GO:0005682	U5 snRNP	IBA	cellular component
GO:0030619	U1 snRNA binding	IBA	molecular function
GO:0030620	U2 snRNA binding	IBA	molecular function
GO:0030623	U5 snRNA binding	IBA	molecular function
GO:0017070	U6 snRNA binding	IBA	molecular function
GO:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0097157	pre-mRNA intronic 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:0071006	U2-type catalytic step 1 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0000244	spliceosomal tri-snRNP complex assembly	IDA	biological process
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0071007	U2-type catalytic step 2 spliceosome	IDA	cellular component
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	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:0005681	spliceosomal complex	IEA	cellular component
GO:0017070	U6 snRNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0030623	U5 snRNA binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005682	U5 snRNP	TAS	cellular component
GO:0006397	mRNA processing	TAS	biological process
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: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:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0030532	small nuclear ribonucleoprotein complex	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0046540	U4/U6 x U5 tri-snRNP complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000375	RNA splicing, via transesterification reactions	TAS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0008380	RNA splicing	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	PMID:11468273
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R