Seroatlas · Human Serome Atlas

PRPF6

Pre-mRNA-processing factor 6

Also known as: ANT-1, bB152O15.1, C20orf14, hPrp6, Prp6, PRP6_HUMAN, RP60, SNRNP102, TOM, U5-102K

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

Protein identityUniProt · HPA

UniProt accession: O94906
Gene: PRPF6
Ensembl: ENSG00000101161
Chromosome: 20
Canonical length: 941 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear speckles,Vesicles,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

941 residues, UniProt reviewed canonical sequence.

>O94906|PRPF6
     1  MNKKKKPFLG MPAPLGYVPG LGRGATGFTT RSDIGPARDA NDPVDDRHAP PGKRTVGDQM
    61  KKNQAADDDD EDLNDTNYDE FNGYAGSLFS SGPYEKDDEE ADAIYAALDK RMDERRKERR
   121  EQREKEEIEK YRMERPKIQQ QFSDLKRKLA EVTEEEWLSI PEVGDARNKR QRNPRYEKLT
   181  PVPDSFFAKH LQTGENHTSV DPRQTQFGGL NTPYPGGLNT PYPGGMTPGL MTPGTGELDM
   241  RKIGQARNTL MDMRLSQVSD SVSGQTVVDP KGYLTDLNSM IPTHGGDIND IKKARLLLKS
   301  VRETNPHHPP AWIASARLEE VTGKLQVARN LIMKGTEMCP KSEDVWLEAA RLQPGDTAKA
   361  VVAQAVRHLP QSVRIYIRAA ELETDIRAKK RVLRKALEHV PNSVRLWKAA VELEEPEDAR
   421  IMLSRAVECC PTSVELWLAL ARLETYENAR KVLNKARENI PTDRHIWITA AKLEEANGNT
   481  QMVEKIIDRA ITSLRANGVE INREQWIQDA EECDRAGSVA TCQAVMRAVI GIGIEEEDRK
   541  HTWMEDADSC VAHNALECAR AIYAYALQVF PSKKSVWLRA AYFEKNHGTR ESLEALLQRA
   601  VAHCPKAEVL WLMGAKSKWL AGDVPAARSI LALAFQANPN SEEIWLAAVK LESENDEYER
   661  ARRLLAKARS SAPTARVFMK SVKLEWVQDN IRAAQDLCEE ALRHYEDFPK LWMMKGQIEE
   721  QKEMMEKARE AYNQGLKKCP HSTPLWLLLS RLEEKIGQLT RARAILEKSR LKNPKNPGLW
   781  LESVRLEYRA GLKNIANTLM AKALQECPNS GILWSEAIFL EARPQRRTKS VDALKKCEHD
   841  PHVLLAVAKL FWSQRKITKA REWFHRTVKI DSDLGDAWAF FYKFELQHGT EEQQEEVRKR
   901  CESAEPRHGE LWCAVSKDIA NWQKKIGDIL RLVAGRIKNT F

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRPF6 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): 0.36
Highest tissue expression: 74 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 74 nTPM
skeletal muscle: 61 nTPM
skin: 56 nTPM
choroid plexus: 51 nTPM
blood vessel: 50 nTPM
fallopian tube: 46 nTPM

Single-cell type

early primary spermatocytes: 135 nCPM
rod photoreceptor cells: 129 nCPM
syncytiotrophoblasts: 127 nCPM
oocytes: 120 nCPM
innate lymphoid cells: 119 nCPM
undifferentiated spermatogonia: 116 nCPM

Immune cell

NK-cell: 131 nTPM
naive CD4 T-cell: 96 nTPM
MAIT T-cell: 93 nTPM
total PBMC: 92 nTPM
basophil: 91 nTPM
memory CD4 T-cell: 83 nTPM

Brain region

white matter: 74 nTPM
cerebellum: 73 nTPM
medulla oblongata: 59 nTPM
pons: 57 nTPM
basal ganglia: 57 nTPM
midbrain: 55 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRPF6.

Disease | AllUniProt

Conditions PRPF6 is implicated in, by any mechanism.

Retinitis pigmentosa 60 (RP60) MIM:613983

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 743 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): 0.44
gnomAD pLI: 0
gnomAD missense Z: 4.85
DepMap mean gene effect: -1.35
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% 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

HAT (Half-A-TPR) repeat
Tetratricopeptide-like helical domain superfamily
Tetratricopeptide repeat
Pre-mRNA-splicing factor Syf1-like
Tetratricopeptide repeat
Tetratricopeptide repeat
PRP1 splicing factor, N-terminal
PRP1 splicing factor, N-terminal

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PRPF6 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 PRPF6 as an antibody target. Whether an autoantibody or antibody against PRPF6 could matter depends on whether native PRPF6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PRPF6 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 PRPF6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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