Seroatlas · Human Serome Atlas

PRPF8

Pre-mRNA-processing-splicing factor 8

Also known as: hPrp8, Prp8, PRP8_HUMAN, PRPC8, RP13, SNRNP220

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

Protein identityUniProt · HPA

UniProt accession: Q6P2Q9
Gene: PRPF8
Ensembl: ENSG00000174231
Chromosome: 17
Canonical length: 2335 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear speckles

OverviewNCBI Gene

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

2335 residues, UniProt reviewed canonical sequence.

>Q6P2Q9|PRPF8
     1  MAGVFPYRGP GNPVPGPLAP LPDYMSEEKL QEKARKWQQL QAKRYAEKRK FGFVDAQKED
    61  MPPEHVRKII RDHGDMTNRK FRHDKRVYLG ALKYMPHAVL KLLENMPMPW EQIRDVPVLY
   121  HITGAISFVN EIPWVIEPVY ISQWGSMWIM MRREKRDRRH FKRMRFPPFD DEEPPLDYAD
   181  NILDVEPLEA IQLELDPEED APVLDWFYDH QPLRDSRKYV NGSTYQRWQF TLPMMSTLYR
   241  LANQLLTDLV DDNYFYLFDL KAFFTSKALN MAIPGGPKFE PLVRDINLQD EDWNEFNDIN
   301  KIIIRQPIRT EYKIAFPYLY NNLPHHVHLT WYHTPNVVFI KTEDPDLPAF YFDPLINPIS
   361  HRHSVKSQEP LPDDDEEFEL PEFVEPFLKD TPLYTDNTAN GIALLWAPRP FNLRSGRTRR
   421  ALDIPLVKNW YREHCPAGQP VKVRVSYQKL LKYYVLNALK HRPPKAQKKR YLFRSFKATK
   481  FFQSTKLDWV EVGLQVCRQG YNMLNLLIHR KNLNYLHLDY NFNLKPVKTL TTKERKKSRF
   541  GNAFHLCREV LRLTKLVVDS HVQYRLGNVD AFQLADGLQY IFAHVGQLTG MYRYKYKLMR
   601  QIRMCKDLKH LIYYRFNTGP VGKGPGCGFW AAGWRVWLFF MRGITPLLER WLGNLLARQF
   661  EGRHSKGVAK TVTKQRVESH FDLELRAAVM HDILDMMPEG IKQNKARTIL QHLSEAWRCW
   721  KANIPWKVPG LPTPIENMIL RYVKAKADWW TNTAHYNRER IRRGATVDKT VCKKNLGRLT
   781  RLYLKAEQER QHNYLKDGPY ITAEEAVAVY TTTVHWLESR RFSPIPFPPL SYKHDTKLLI
   841  LALERLKEAY SVKSRLNQSQ REELGLIEQA YDNPHEALSR IKRHLLTQRA FKEVGIEFMD
   901  LYSHLVPVYD VEPLEKITDA YLDQYLWYEA DKRRLFPPWI KPADTEPPPL LVYKWCQGIN
   961  NLQDVWETSE GECNVMLESR FEKMYEKIDL TLLNRLLRLI VDHNIADYMT AKNNVVINYK
  1021  DMNHTNSYGI IRGLQFASFI VQYYGLVMDL LVLGLHRASE MAGPPQMPND FLSFQDIATE
  1081  AAHPIRLFCR YIDRIHIFFR FTADEARDLI QRYLTEHPDP NNENIVGYNN KKCWPRDARM
  1141  RLMKHDVNLG RAVFWDIKNR LPRSVTTVQW ENSFVSVYSK DNPNLLFNMC GFECRILPKC
  1201  RTSYEEFTHK DGVWNLQNEV TKERTAQCFL RVDDESMQRF HNRVRQILMA SGSTTFTKIV
  1261  NKWNTALIGL MTYFREAVVN TQELLDLLVK CENKIQTRIK IGLNSKMPSR FPPVVFYTPK
  1321  ELGGLGMLSM GHVLIPQSDL RWSKQTDVGI THFRSGMSHE EDQLIPNLYR YIQPWESEFI
  1381  DSQRVWAEYA LKRQEAIAQN RRLTLEDLED SWDRGIPRIN TLFQKDRHTL AYDKGWRVRT
  1441  DFKQYQVLKQ NPFWWTHQRH DGKLWNLNNY RTDMIQALGG VEGILEHTLF KGTYFPTWEG
  1501  LFWEKASGFE ESMKWKKLTN AQRSGLNQIP NRRFTLWWSP TINRANVYVG FQVQLDLTGI
  1561  FMHGKIPTLK ISLIQIFRAH LWQKIHESIV MDLCQVFDQE LDALEIETVQ KETIHPRKSY
  1621  KMNSSCADIL LFASYKWNVS RPSLLADSKD VMDSTTTQKY WIDIQLRWGD YDSHDIERYA
  1681  RAKFLDYTTD NMSIYPSPTG VLIAIDLAYN LHSAYGNWFP GSKPLIQQAM AKIMKANPAL
  1741  YVLRERIRKG LQLYSSEPTE PYLSSQNYGE LFSNQIIWFV DDTNVYRVTI HKTFEGNLTT
  1801  KPINGAIFIF NPRTGQLFLK IIHTSVWAGQ KRLGQLAKWK TAEEVAALIR SLPVEEQPKQ
  1861  IIVTRKGMLD PLEVHLLDFP NIVIKGSELQ LPFQACLKVE KFGDLILKAT EPQMVLFNLY
  1921  DDWLKTISSY TAFSRLILIL RALHVNNDRA KVILKPDKTT ITEPHHIWPT LTDEEWIKVE
  1981  VQLKDLILAD YGKKNNVNVA SLTQSEIRDI ILGMEISAPS QQRQQIAEIE KQTKEQSQLT
  2041  ATQTRTVNKH GDEIITSTTS NYETQTFSSK TEWRVRAISA ANLHLRTNHI YVSSDDIKET
  2101  GYTYILPKNV LKKFICISDL RAQIAGYLYG VSPPDNPQVK EIRCIVMVPQ WGTHQTVHLP
  2161  GQLPQHEYLK EMEPLGWIHT QPNESPQLSP QDVTTHAKIM ADNPSWDGEK TIIITCSFTP
  2221  GSCTLTAYKL TPSGYEWGRQ NTDKGNNPKG YLPSHYERVQ MLLSDRFLGF FMVPAQSSWN
  2281  YNFMGVRHDP NMKYELQLAN PKEFYHEVHR PSHFLNFALL QEGEVYSADR EDLYA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRPF8 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): 0.27
Highest tissue expression: 140 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 140 nTPM
ovary: 127 nTPM
pituitary gland: 125 nTPM
adrenal gland: 124 nTPM
cerebellum: 119 nTPM
choroid plexus: 97 nTPM

Single-cell type

renal collecting duct intercalated cells: 66 nCPM
early primary spermatocytes: 64 nCPM
microglia: 61 nCPM
erythrocyte progenitors: 60 nCPM
podocytes: 60 nCPM
loop of henle epithelial cells: 57 nCPM

Immune cell

plasmacytoid DC: 26 nTPM
MAIT T-cell: 22 nTPM
T-reg: 21 nTPM
non-classical monocyte: 20 nTPM
memory CD8 T-cell: 19 nTPM
naive CD8 T-cell: 18 nTPM

Brain region

choroid plexus: 110 nTPM
cerebellum: 98 nTPM
pons: 87 nTPM
white matter: 86 nTPM
cerebral cortex: 84 nTPM
basal ganglia: 82 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRPF8.

Disease | AllUniProt

Conditions PRPF8 is implicated in, by any mechanism.

Retinitis pigmentosa 13 (RP13) MIM:600059

Disease | GeneticClinVar

78 pathogenic / likely-pathogenic of 1,710 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): 0.18
gnomAD pLI: 1
gnomAD missense Z: 8.28
DepMap mean gene effect: -2
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

JAB1/MPN/MOV34 metalloenzyme domain
Ribonuclease H-like superfamily
MPN domain
JAB1/Mov34/MPN/PAD-1 ubiquitin protease
PRO8NT domain
PROCN domain
PROCT domain
Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding
Pre-mRNA-processing-splicing factor 8, U5-snRNA-binding
RNA recognition motif, spliceosomal PrP8
PRP8 domain IV core
Pre-mRNA-processing-splicing factor 8
Pre-mRNA-processing-splicing factor 8, U5-snRNA-binding domain superfamily
Prp8 RNase domain IV, palm region
Prp8 RNase domain IV, fingers region
PRO8NT (NUC069), PrP8 N-terminal domain
PROCN (NUC071) domain
PROCT (NUC072) domain
U6-snRNA interacting domain of PrP8
U5-snRNA binding site 2 of PrP8
RNA recognition motif of the spliceosomal PrP8
PRP8 domain IV core

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PRPF8 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 PRPF8 as an antibody target. Whether an autoantibody or antibody against PRPF8 could matter depends on whether native PRPF8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PRPF8 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 PRPF8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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