Seroatlas · Human Serome Atlas

PRPF3

U4/U6 small nuclear ribonucleoprotein Prp3

Also known as: hPrp3, Prp3, PRPF3_HUMAN, RP18, SNRNP90

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O43395
Gene
PRPF3
Ensembl
ENSG00000117360
Chromosome
1
Canonical length
683 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

683 residues, UniProt reviewed canonical sequence.

>O43395|PRPF3
     1  MALSKRELDE LKPWIEKTVK RVLGFSEPTV VTAALNCVGK GMDKKKAADH LKPFLDDSTL
    61  RFVDKLFEAV EEGRSSRHSK SSSDRSRKRE LKEVFGDDSE ISKESSGVKK RRIPRFEEVE
   121  EEPEVIPGPP SESPGMLTKL QIKQMMEAAT RQIEERKKQL SFISPPTPQP KTPSSSQPER
   181  LPIGNTIQPS QAATFMNDAI EKARKAAELQ ARIQAQLALK PGLIGNANMV GLANLHAMGI
   241  APPKVELKDQ TKPTPLILDE QGRTVDATGK EIELTHRMPT LKANIRAVKR EQFKQQLKEK
   301  PSEDMESNTF FDPRVSIAPS QRQRRTFKFH DKGKFEKIAQ RLRTKAQLEK LQAEISQAAR
   361  KTGIHTSTRL ALIAPKKELK EGDIPEIEWW DSYIIPNGFD LTEENPKRED YFGITNLVEH
   421  PAQLNPPVDN DTPVTLGVYL TKKEQKKLRR QTRREAQKEL QEKVRLGLMP PPEPKVRISN
   481  LMRVLGTEAV QDPTKVEAHV RAQMAKRQKA HEEANAARKL TAEQRKVKKI KKLKEDISQG
   541  VHISVYRVRN LSNPAKKFKI EANAGQLYLT GVVVLHKDVN VVVVEGGPKA QKKFKRLMLH
   601  RIKWDEQTSN TKGDDDEESD EEAVKKTNKC VLVWEGTAKD RSFGEMKFKQ CPTENMAREH
   661  FKKHGAEHYW DLALSESVLE STD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRPF3 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)
0.5
Highest tissue expression
42 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 42 nTPM
  • retina: 40 nTPM
  • ovary: 34 nTPM
  • spleen: 34 nTPM
  • thyroid gland: 32 nTPM
  • liver: 30 nTPM

Single-cell type

  • neutrophil progenitors: 94 nCPM
  • rod photoreceptor cells: 89 nCPM
  • monocyte progenitors: 74 nCPM
  • adrenal cortex cells: 65 nCPM
  • medullary thymic epithelial cells: 62 nCPM
  • early primary spermatocytes: 62 nCPM

Immune cell

  • non-classical monocyte: 22 nTPM
  • gdT-cell: 15 nTPM
  • MAIT T-cell: 15 nTPM
  • eosinophil: 13 nTPM
  • memory B-cell: 13 nTPM
  • intermediate monocyte: 12 nTPM

Brain region

  • cerebellum: 33 nTPM
  • choroid plexus: 33 nTPM
  • hypothalamus: 30 nTPM
  • white matter: 29 nTPM
  • cerebral cortex: 28 nTPM
  • basal ganglia: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRPF3.

Disease | AllUniProt

Conditions PRPF3 is implicated in, by any mechanism.

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 447 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on PRPF3 was assayed in.

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)
0.07
gnomAD pLI
1
gnomAD missense Z
3.85
DepMap mean gene effect
-0.86
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PRPF3 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 PRPF3 as an antibody target. Whether an autoantibody or antibody against PRPF3 could matter depends on whether native PRPF3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PRPF3 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 PRPF3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PRPF3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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