KEGG   Homo sapiens (human): 9128
Entry
9128              CDS       T01001                                 
Symbol
PRPF4, HPRP4, HPRP4P, PRP4, Prp4p, RP70, SNRNP60
Name
(RefSeq) pre-mRNA splicing tri-snRNP complex factor PRPF4
  KO
K12662  U4/U6 small nuclear ribonucleoprotein PRP4
Organism
hsa  Homo sapiens (human)
Pathway
hsa03040  Spliceosome
Disease
H00527  Retinitis pigmentosa
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09121 Transcription
   03040 Spliceosome
    9128 (PRPF4)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    9128 (PRPF4)
Spliceosome [BR:hsa03041]
 Complex B
  U4/U6.U5 tri-snRNP components
   U4/U6 snRNP specific factors
    9128 (PRPF4)
SSDB
Motif
Pfam: WD40_Prp19 WD40 WD40_CDC20-Fz WD40_WDHD1_1st Beta-prop_EML_2 Beta-prop_CAF1B_HIR1 EIF3I WDR55 Beta-prop_WDR90_POC16_2nd Beta-prop_TEP1_2nd Beta-prop_WDR75_1st WD40_MABP1-WDR62_2nd ANAPC4_WD40 PRP4 WDR90_beta-prop_4th Beta-prop_EML WD40_MABP1-WDR62_1st NBCH_WD40 Beta-prop_TEP1_C Beta-prop_EIPR1 Beta-prop_DCAF4 Beta-prop_SCAP Beta-prop_IFT122_1st Beta-prop_Vps41 WD_LRWD1 Beta-prop_IFT140_1st WD40_like Beta-prop_WDR19_1st Beta-prop_WDR35_TULP_N Beta-prop_WDR11_1st
Other DBs
NCBI-GeneID: 9128
NCBI-ProteinID: NP_004688
OMIM: 607795
HGNC: 17349
Ensembl: ENSG00000136875
UniProt: O43172
Structure
Position
9:113275658..113292905
AA seq 522 aa
MASSRASSTQATKTKAPDDLVAPVVKKPHIYYGSLEEKERERLAKGESGILGKDGLKAGI
EAGNINITSGEVFEIEEHISERQAEVLAEFERRKRARQINVSTDDSEVKACLRALGEPIT
LFGEGPAERRERLRNILSVVGTDALKKTKKDDEKSKKSKEEYQQTWYHEGPNSLKVARLW
IANYSLPRAMKRLEEARLHKEIPETTRTSQMQELHKSLRSLNNFCSQIGDDRPISYCHFS
PNSKMLATACWSGLCKLWSVPDCNLLHTLRGHNTNVGAIVFHPKSTVSLDPKDVNLASCA
ADGSVKLWSLDSDEPVADIEGHTVRVARVMWHPSGRFLGTTCYDRSWRLWDLEAQEEILH
QEGHSMGVYDIAFHQDGSLAGTGGLDAFGRVWDLRTGRCIMFLEGHLKEIYGINFSPNGY
HIATGSGDNTCKVWDLRQRRCVYTIPAHQNLVTGVKFEPIHGNFLLTGAYDNTAKIWTHP
GWSPLKTLAGHEGKVMGLDISSDGQLIATCSYDRTFKLWMAE
NT seq 1569 nt   +upstreamnt  +downstreamnt
atggcttcctcgcgagcctcttccacgcaggcaaccaaaactaaagcacccgacgactta
gttgctccggtcgtgaagaaaccacacatctattatggaagtttggaagagaaggagagg
gagcgtctggccaaaggagagtctgggattttggggaaagacggacttaaagcagggatc
gaagctggaaatattaatataacctctggagaagtgtttgaaattgaagagcatatcagc
gagcgacaggcagaagtattggctgagtttgagagaaggaagcgagcccggcagatcaat
gtttccacagatgactcagaggtcaaagcttgccttagagccttgggggaacccatcaca
ctttttggagagggtcctgctgaaagaagagaaaggttaagaaatatcctctcagttgtc
ggtactgatgccttgaaaaagaccaaaaaggatgatgagaagtctaaaaagtccaaagaa
gagtatcagcaaacctggtatcatgaaggaccaaatagcttgaaggtggcaagactatgg
attgctaattattcgttgcccagggcaatgaaacgcttggaagaggcccgactccataag
gagattcctgagacaacaaggacctcccagatgcaagagctgcacaagtctctccggtct
ttgaataatttttgcagtcagattggggatgatcggcctatctcctactgtcactttagt
cccaattccaagatgctggccacagcttgttggagtgggctttgcaagctctggtctgtt
cctgattgcaacctccttcacactcttcgagggcataacacaaatgtaggagcaattgta
ttccatcccaaatccactgtctccttggacccaaaagatgtcaacctggcctcttgtgcg
gctgatggctctgtgaagctttggagtctcgacagtgatgaaccagtggcagatattgaa
ggccatacagtgcgtgtggcgcgggtaatgtggcatccttcaggacgtttcctgggcacc
acctgctatgaccgttcatggcgcttatgggatttggaggctcaagaggagatcctgcat
caggaaggccatagcatgggtgtgtatgacattgccttccatcaagatggctctttggct
ggcactgggggactggatgcatttggtcgagtttgggacctacgcacaggacgttgtatc
atgttcttagaaggccacctgaaagaaatctatggaataaatttctcccccaatggctat
cacattgcaaccggcagtggtgacaacacctgcaaagtgtgggacctccgacagcggcgt
tgcgtctacaccatccctgctcatcagaacttagtgactggtgtcaagtttgagcctatc
catgggaacttcttgcttactggtgcctatgataacacagccaagatctggacgcaccca
ggctggtccccgctgaagactctggctggccacgaaggcaaagtgatgggcctagatatt
tcttccgatgggcagctcatagccacttgctcatatgacaggaccttcaagctgtggatg
gctgaatag

  All links  
Disease (2)   
   OMIM (2)   
Gene (19)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (30)   
   RefSeq(nuc) (6)   
   GenBank (12)   
   EMBL (12)   
3D Structure (25)   
   PDB (25)   
Protein domain (30)   
   Pfam (30)   
All databases (112)   

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