Seroatlas · Human Serome Atlas

PRPF31

U4/U6 small nuclear ribonucleoprotein Prp31

Also known as: hPrp31, NY-BR-99, PRP31, PRP31_HUMAN, RP11, SNRNP61

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

Protein identityUniProt · HPA

UniProt accession
Q8WWY3
Gene
PRPF31
Ensembl
ENSG00000105618
Chromosome
19
Canonical length
499 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]

Canonical amino-acid sequenceUniProt

499 residues, UniProt reviewed canonical sequence.

>Q8WWY3|PRPF31
     1  MSLADELLAD LEEAAEEEEG GSYGEEEEEP AIEDVQEETQ LDLSGDSVKT IAKLWDSKMF
    61  AEIMMKIEEY ISKQAKASEV MGPVEAAPEY RVIVDANNLT VEIENELNII HKFIRDKYSK
   121  RFPELESLVP NALDYIRTVK ELGNSLDKCK NNENLQQILT NATIMVVSVT ASTTQGQQLS
   181  EEELERLEEA CDMALELNAS KHRIYEYVES RMSFIAPNLS IIIGASTAAK IMGVAGGLTN
   241  LSKMPACNIM LLGAQRKTLS GFSSTSVLPH TGYIYHSDIV QSLPPDLRRK AARLVAAKCT
   301  LAARVDSFHE STEGKVGYEL KDEIERKFDK WQEPPPVKQV KPLPAPLDGQ RKKRGGRRYR
   361  KMKERLGLTE IRKQANRMSF GEIEEDAYQE DLGFSLGHLG KSGSGRVRQT QVNEATKARI
   421  SKTLQRTLQK QSVVYGGKST IRDRSSGTAS SVAFTPLQGL EIVNPQAAEK KVAEANQKYF
   481  SSMAEFLKVK GEKSGLMST

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRPF31 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)
0.42
Highest tissue expression
48 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 48 nTPM
  • liver: 45 nTPM
  • cerebellum: 44 nTPM
  • blood vessel: 44 nTPM
  • colon: 43 nTPM
  • skin: 41 nTPM

Single-cell type

  • tuft cells: 35 nCPM
  • early primary spermatocytes: 30 nCPM
  • astrocytes: 23 nCPM
  • bergmann glia: 22 nCPM
  • papillary tip epithelial cells: 18 nCPM
  • oligodendrocytes: 18 nCPM

Immune cell

  • T-reg: 61 nTPM
  • NK-cell: 55 nTPM
  • intermediate monocyte: 53 nTPM
  • myeloid DC: 53 nTPM
  • MAIT T-cell: 52 nTPM
  • memory CD8 T-cell: 51 nTPM

Brain region

  • white matter: 27 nTPM
  • thalamus: 26 nTPM
  • basal ganglia: 26 nTPM
  • medulla oblongata: 26 nTPM
  • choroid plexus: 25 nTPM
  • cerebral cortex: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRPF31.

Disease | AllUniProt

Conditions PRPF31 is implicated in, by any mechanism.

Disease | GeneticClinVar

268 pathogenic / likely-pathogenic of 805 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.3
gnomAD pLI
0.98
gnomAD missense Z
3.05
DepMap mean gene effect
-1.97
DepMap dependency class
pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 PRPF31 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 PRPF31 as an antibody target. Whether an autoantibody or antibody against PRPF31 could matter depends on whether native PRPF31 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PRPF31 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 PRPF31 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PRPF31. 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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