UniProtKB - O43172 (PRP4_HUMAN)
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Protein
U4/U6 small nuclear ribonucleoprotein Prp4
Gene
PRPF4
Organism
Homo sapiens (Human)
Status
Functioni
Participates in pre-mRNA splicing. Part of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome.1 Publication
GO - Molecular functioni
- U4 snRNA binding Source: GO_Central
- U6 snRNA binding Source: GO_Central
GO - Biological processi
- mRNA splicing, via spliceosome Source: GO_Central
- RNA processing Source: ProtInc
- RNA splicing Source: ProtInc
- RNA splicing, via transesterification reactions Source: UniProtKB
Keywordsi
Biological process | mRNA processing, mRNA splicing |
Enzyme and pathway databases
Reactomei | R-HSA-72163. mRNA Splicing - Major Pathway. |
SignaLinki | O43172. |
Names & Taxonomyi
Protein namesi | Recommended name: U4/U6 small nuclear ribonucleoprotein Prp4Alternative name(s): PRP4 homolog Short name: hPrp4 U4/U6 snRNP 60 kDa protein WD splicing factor Prp4 |
Gene namesi | Name:PRPF4 Synonyms:PRP4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000136875.12. |
HGNCi | HGNC:17349. PRPF4. |
MIMi | 607795. gene. |
neXtProti | NX_O43172. |
Pathology & Biotechi
Involvement in diseasei
Retinitis pigmentosa 70 (RP70)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:615922Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074029 | 192 | R → H in RP70; does not affect nuclear speck localization; disrupts interaction with PRPF3; does not affect interaction with PPIH; does not integrated in spliceosomal snRNP complex. 1 PublicationCorresponds to variant dbSNP:rs41296057Ensembl. | 1 | |
Natural variantiVAR_071872 | 315 | P → L in RP70. 1 PublicationCorresponds to variant dbSNP:rs587777599Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 192 | R → E: Decreases PRPF3 binding. 1 Publication | 1 | |
Mutagenesisi | 192 | R → K: Decreases PRPF3 binding. 1 Publication | 1 | |
Mutagenesisi | 192 | R → W: Decreases PRPF3 binding. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 9128. |
MalaCardsi | PRPF4. |
MIMi | 615922. phenotype. |
OpenTargetsi | ENSG00000136875. |
Orphaneti | 791. Retinitis pigmentosa. |
PharmGKBi | PA38448. |
Chemistry databases
ChEMBLi | CHEMBL1163119. |
Polymorphism and mutation databases
BioMutai | PRPF4. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000051149 | 1 – 522 | U4/U6 small nuclear ribonucleoprotein Prp4Add BLAST | 522 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 27 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | O43172. |
MaxQBi | O43172. |
PaxDbi | O43172. |
PeptideAtlasi | O43172. |
PRIDEi | O43172. |
PTM databases
iPTMneti | O43172. |
PhosphoSitePlusi | O43172. |
Expressioni
Gene expression databases
Bgeei | ENSG00000136875. |
CleanExi | HS_PRPF4. |
ExpressionAtlasi | O43172. baseline and differential. |
Genevisiblei | O43172. HS. |
Organism-specific databases
HPAi | HPA021794. HPA022248. |
Interactioni
Subunit structurei
Interacts directly with PRPF18, PPIH and PRPF3. Part of a heteromeric complex containing PPIH, PRPF3 and PRPF4 that is stable in the absence of RNA. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, WDR57, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39.6 Publications
Binary interactionsi
Protein-protein interaction databases
BioGridi | 114576. 145 interactors. |
CORUMi | O43172. |
IntActi | O43172. 89 interactors. |
MINTi | O43172. |
STRINGi | 9606.ENSP00000363313. |
Chemistry databases
BindingDBi | O43172. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Helixi | 108 – 114 | Combined sources | 7 | |
Beta strandi | 119 – 121 | Combined sources | 3 | |
Helixi | 126 – 136 | Combined sources | 11 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1MZW | X-ray | 2.00 | B | 107-137 | [»] | |
3JCR | electron microscopy | 7.00 | L | 1-522 | [»] | |
5O9Z | electron microscopy | 4.50 | F | 1-522 | [»] | |
ProteinModelPortali | O43172. | |||||
SMRi | O43172. | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Miscellaneous databases
EvolutionaryTracei | O43172. |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 229 – 268 | WD 1Add BLAST | 40 | |
Repeati | 271 – 318 | WD 2Add BLAST | 48 | |
Repeati | 321 – 360 | WD 3Add BLAST | 40 | |
Repeati | 363 – 402 | WD 4Add BLAST | 40 | |
Repeati | 405 – 444 | WD 5Add BLAST | 40 | |
Repeati | 447 – 487 | WD 6Add BLAST | 41 | |
Repeati | 490 – 521 | WD 7Add BLAST | 32 |
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG0272. Eukaryota. ENOG410XNP8. LUCA. |
GeneTreei | ENSGT00900000140925. |
HOGENOMi | HOG000157615. |
HOVERGENi | HBG030892. |
InParanoidi | O43172. |
KOi | K12662. |
OMAi | DSSWRLW. |
OrthoDBi | EOG091G0HXT. |
PhylomeDBi | O43172. |
TreeFami | TF314922. |
Family and domain databases
Gene3Di | 1.10.720.150. 1 hit. 2.130.10.10. 2 hits. |
InterProi | View protein in InterPro IPR020472. G-protein_beta_WD-40_rep. IPR027106. Prp4. IPR014906. PRP4-like. IPR036285. PRP4-like_sf. IPR015943. WD40/YVTN_repeat-like_dom_sf. IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. IPR036322. WD40_repeat_dom_sf. |
PANTHERi | PTHR19846. PTHR19846. 1 hit. |
Pfami | View protein in Pfam PF08799. PRP4. 1 hit. PF00400. WD40. 6 hits. |
PRINTSi | PR00320. GPROTEINBRPT. |
SMARTi | View protein in SMART SM00500. SFM. 1 hit. SM00320. WD40. 7 hits. |
SUPFAMi | SSF158230. SSF158230. 1 hit. SSF50978. SSF50978. 1 hit. |
PROSITEi | View protein in PROSITE PS00678. WD_REPEATS_1. 2 hits. PS50082. WD_REPEATS_2. 6 hits. PS50294. WD_REPEATS_REGION. 1 hit. |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: O43172-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MASSRASSTQ ATKTKAPDDL VAPVVKKPHI YYGSLEEKER ERLAKGESGI
60 70 80 90 100
LGKDGLKAGI EAGNINITSG EVFEIEEHIS ERQAEVLAEF ERRKRARQIN
110 120 130 140 150
VSTDDSEVKA CLRALGEPIT LFGEGPAERR ERLRNILSVV GTDALKKTKK
160 170 180 190 200
DDEKSKKSKE EYQQTWYHEG PNSLKVARLW IANYSLPRAM KRLEEARLHK
210 220 230 240 250
EIPETTRTSQ MQELHKSLRS LNNFCSQIGD DRPISYCHFS PNSKMLATAC
260 270 280 290 300
WSGLCKLWSV PDCNLLHTLR GHNTNVGAIV FHPKSTVSLD PKDVNLASCA
310 320 330 340 350
ADGSVKLWSL DSDEPVADIE GHTVRVARVM WHPSGRFLGT TCYDRSWRLW
360 370 380 390 400
DLEAQEEILH QEGHSMGVYD IAFHQDGSLA GTGGLDAFGR VWDLRTGRCI
410 420 430 440 450
MFLEGHLKEI YGINFSPNGY HIATGSGDNT CKVWDLRQRR CVYTIPAHQN
460 470 480 490 500
LVTGVKFEPI HGNFLLTGAY DNTAKIWTHP GWSPLKTLAG HEGKVMGLDI
510 520
SSDGQLIATC SYDRTFKLWM AE
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 78 – 103 | HISER…INVST → ISASDRQKYWLSLREGSEPG RSMFPP in AAC02261 (PubMed:9328476).CuratedAdd BLAST | 26 | |
Sequence conflicti | 78 | H → R in AAC51925 (PubMed:9404889).Curated | 1 | |
Sequence conflicti | 86 | V → L in AAB87640 (PubMed:9257651).Curated | 1 | |
Sequence conflicti | 134 | R → K in AAB87640 (PubMed:9257651).Curated | 1 | |
Sequence conflicti | 141 | G → D in AAB87640 (PubMed:9257651).Curated | 1 | |
Sequence conflicti | 176 | Missing in AAC02261 (PubMed:9328476).Curated | 1 | |
Sequence conflicti | 275 – 282 | NVGAIVFH → KKEQLHSI in AAC02261 (PubMed:9328476).Curated | 8 | |
Sequence conflicti | 405 | G → D in AAB87640 (PubMed:9257651).Curated | 1 | |
Sequence conflicti | 447 | A → P in AAB87640 (PubMed:9257651).Curated | 1 | |
Sequence conflicti | 510 | C → Y in AAB87640 (PubMed:9257651).Curated | 1 | |
Sequence conflicti | 521 | A → L in AAB87640 (PubMed:9257651).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074029 | 192 | R → H in RP70; does not affect nuclear speck localization; disrupts interaction with PRPF3; does not affect interaction with PPIH; does not integrated in spliceosomal snRNP complex. 1 PublicationCorresponds to variant dbSNP:rs41296057Ensembl. | 1 | |
Natural variantiVAR_071872 | 315 | P → L in RP70. 1 PublicationCorresponds to variant dbSNP:rs587777599Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_006785 | 10 | Missing in isoform 2. 2 Publications | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF001687 Genomic DNA. Translation: AAB87640.1. AF016369 mRNA. Translation: AAC51925.1. U82756 mRNA. Translation: AAC02261.1. AL449305 Genomic DNA. No translation available. CH471090 Genomic DNA. Translation: EAW87362.1. BC001588 mRNA. Translation: AAH01588.1. BC007424 mRNA. Translation: AAH07424.1. |
CCDSi | CCDS59142.1. [O43172-2] CCDS6791.1. [O43172-1] |
RefSeqi | NP_001231855.1. NM_001244926.1. [O43172-2] NP_004688.2. NM_004697.4. [O43172-1] |
UniGenei | Hs.744014. |
Genome annotation databases
Ensembli | ENST00000374198; ENSP00000363313; ENSG00000136875. [O43172-1] ENST00000374199; ENSP00000363315; ENSG00000136875. [O43172-2] |
GeneIDi | 9128. |
KEGGi | hsa:9128. |
UCSCi | uc004bgx.4. human. [O43172-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Entry informationi
Entry namei | PRP4_HUMAN | |
Accessioni | O43172Primary (citable) accession number: O43172 Secondary accession number(s): O43445 Q96IK4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 2, 2002 |
Last sequence update: | May 2, 2002 | |
Last modified: | March 28, 2018 | |
This is version 181 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |