PRPF4
U4/U6 small nuclear ribonucleoprotein Prp4
Also known as: HPRP4, HPRP4P, PRP4, PRP4_HUMAN, Prp4p, SNRNP60
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O43172
- Gene
- PRPF4
- Ensembl
- ENSG00000136875
- Chromosome
- 9
- Canonical length
- 522 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nuclear speckles
OverviewNCBI Gene
The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
Canonical amino-acid sequenceUniProt
522 residues, UniProt reviewed canonical sequence.
>O43172|PRPF4
1 MASSRASSTQ ATKTKAPDDL VAPVVKKPHI YYGSLEEKER ERLAKGESGI LGKDGLKAGI
61 EAGNINITSG EVFEIEEHIS ERQAEVLAEF ERRKRARQIN VSTDDSEVKA CLRALGEPIT
121 LFGEGPAERR ERLRNILSVV GTDALKKTKK DDEKSKKSKE EYQQTWYHEG PNSLKVARLW
181 IANYSLPRAM KRLEEARLHK EIPETTRTSQ MQELHKSLRS LNNFCSQIGD DRPISYCHFS
241 PNSKMLATAC WSGLCKLWSV PDCNLLHTLR GHNTNVGAIV FHPKSTVSLD PKDVNLASCA
301 ADGSVKLWSL DSDEPVADIE GHTVRVARVM WHPSGRFLGT TCYDRSWRLW DLEAQEEILH
361 QEGHSMGVYD IAFHQDGSLA GTGGLDAFGR VWDLRTGRCI MFLEGHLKEI YGINFSPNGY
421 HIATGSGDNT CKVWDLRQRR CVYTIPAHQN LVTGVKFEPI HGNFLLTGAY DNTAKIWTHP
481 GWSPLKTLAG HEGKVMGLDI SSDGQLIATC SYDRTFKLWM AELocalizationUniProt · AlphaFold · HPA
Whether an antibody against PRPF4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 24 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 24 nTPM
- epididymis: 18 nTPM
- skeletal muscle: 17 nTPM
- tonsil: 17 nTPM
- thymus: 16 nTPM
- liver: 16 nTPM
Single-cell type
- neutrophils: 46 nCPM
- monocyte progenitors: 46 nCPM
- extravillous trophoblasts: 43 nCPM
- migrating cytotrophoblasts: 42 nCPM
- erythrocyte progenitors: 39 nCPM
- esophageal basal cells: 38 nCPM
Immune cell
- basophil: 27 nTPM
- non-classical monocyte: 25 nTPM
- myeloid DC: 20 nTPM
- intermediate monocyte: 19 nTPM
- NK-cell: 18 nTPM
- naive B-cell: 17 nTPM
Brain region
- cerebellum: 15 nTPM
- cerebral cortex: 13 nTPM
- hypothalamus: 13 nTPM
- white matter: 13 nTPM
- basal ganglia: 13 nTPM
- pons: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PRPF4.
Disease | AllUniProt
Conditions PRPF4 is implicated in, by any mechanism.
- Retinitis pigmentosa 70 (RP70) MIM:615922
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 389 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Retinitis pigmentosa 70
- Retinal dystrophy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.23
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.99
- DepMap mean gene effect
- -1.53
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- mRNA splicing, via spliceosome
- RNA processing
- RNA splicing
- RNA splicing, via transesterification reactions
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PRPF4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PRPF4 as an antibody target. Whether an autoantibody or antibody against PRPF4 could matter depends on whether native PRPF4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PRPF4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PRPF4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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