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Aliases for PRPF6 Gene

Aliases for PRPF6 Gene

  • Pre-MRNA Processing Factor 6 2 3 5
  • U5 SnRNP-Associated 102 KDa Protein 3 4
  • U5-102 KDa Protein 3 4
  • PRP6 Homolog 3 4
  • C20orf14 3 4
  • ANT-1 3 4
  • P102 U5 Small Nuclear Ribonucleoprotein Particle-Binding Protein 3
  • Androgen Receptor N-Terminal Domain Transactivating Protein-1 3
  • Putative Mitochondrial Outer Membrane Protein Import Receptor 3
  • Androgen Receptor N-Terminal Domain-Transactivating Protein 1 4
  • PRP6 Pre-MRNA Processing Factor 6 Homolog (S. Cerevisiae) 2
  • PRP6 Pre-MRNA Processing Factor 6 Homolog (Yeast) 2
  • PRP6 Pre-MRNA Processing Factor 6 Homolog 3
  • Chromosome 20 Open Reading Frame 14 2
  • Pre-MRNA-Processing Factor 6 3
  • SNRNP102 3
  • U5-102K 3
  • HPrp6 3
  • ANT1 3
  • Prp6 3
  • RP60 3
  • TOM 3

External Ids for PRPF6 Gene

Previous HGNC Symbols for PRPF6 Gene

  • C20orf14

Previous GeneCards Identifiers for PRPF6 Gene

  • GC20P062083
  • GC20P062612
  • GC20P059347

Summaries for PRPF6 Gene

Entrez Gene Summary for PRPF6 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]

GeneCards Summary for PRPF6 Gene

PRPF6 (Pre-MRNA Processing Factor 6) is a Protein Coding gene. Diseases associated with PRPF6 include Retinitis Pigmentosa 60 and Prpf6-Related Retinitis Pigmentosa. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and transcription coactivator activity.

UniProtKB/Swiss-Prot for PRPF6 Gene

  • Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation.

Gene Wiki entry for PRPF6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPF6 Gene

Genomics for PRPF6 Gene

Regulatory Elements for PRPF6 Gene

Enhancers for PRPF6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G064052 2 FANTOM5 Ensembl ENCODE dbSUPER 15.9 +74.6 74567 5.7 HDGF FOXA2 PKNOX1 MLX ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 SOX18 RGS19 TCEA2 PRPF6 OPRL1 SAMD10 ZNF512B ENSG00000237371 C20orf204 UCKL1
GH20G063953 1.4 ENCODE dbSUPER 19.6 -24.6 -24562 5.5 MLX CREB3L1 AGO1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 RTEL1 UCKL1 TNFRSF6B PRPF6 MIR647 STMN3 HAR1A ZBTB46 ZNF512B PIR62018
GH20G063977 1.7 FANTOM5 ENCODE dbSUPER 15.3 -1.3 -1265 4.8 MLX CREB3L1 AGO1 ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF143 SP3 C20orf204 PRPF6 SAMD10 ZNF512B
GH20G063893 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.2 -84.4 -84378 5.4 HDGF FOXA2 PKNOX1 ARNT MLX AGO1 WRNIP1 SIN3A ARID4B DMAP1 UCKL1 MIR647 GMEB2 PRPF6 RGS19 RTEL1 OPRL1 ZBTB46 C20orf181 SRMS
GH20G063971 1.6 Ensembl ENCODE dbSUPER 14.5 -7.5 -7467 3.8 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2 MIR647 C20orf204 PRPF6 UCKL1 SAMD10 ZNF512B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRPF6 on UCSC Golden Path with GeneCards custom track

Promoters for PRPF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000139998 331 801 HDGF PKNOX1 MLX CREB3L1 ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1
ENSR00000299353 -1669 1201 HDGF MLX ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2 ZBTB7B SLC30A9

Genomic Location for PRPF6 Gene

Chromosome:
20
Start:
63,981,069 bp from pter
End:
64,033,100 bp from pter
Size:
52,032 bases
Orientation:
Plus strand

Genomic View for PRPF6 Gene

Genes around PRPF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPF6 Gene

Proteins for PRPF6 Gene

  • Protein details for PRPF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94906-PRP6_HUMAN
    Recommended name:
    Pre-mRNA-processing factor 6
    Protein Accession:
    O94906
    Secondary Accessions:
    • B2RAR5
    • B3KMC6
    • O95109
    • Q5VXS5
    • Q9H3Z1
    • Q9H4T9
    • Q9H4U8
    • Q9NTE6

    Protein attributes for PRPF6 Gene

    Size:
    941 amino acids
    Molecular mass:
    106925 Da
    Quaternary structure:
    • Associates with the U5 snRNP particle. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, LSm proteins LSm2-8 and Sm proteins. Interacts with ARAF1. Identified in the spliceosome C complex. Interacts with AR and NR3C1, but not ESR1, independently of the presence of hormones.

    Three dimensional structures from OCA and Proteopedia for PRPF6 Gene

    Alternative splice isoforms for PRPF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRPF6 Gene

Post-translational modifications for PRPF6 Gene

  • Ubiquitination at isoforms=2618 and isoforms=2775
  • Modification sites at PhosphoSitePlus

Other Protein References for PRPF6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRPF6 Gene

Domains & Families for PRPF6 Gene

Suggested Antigen Peptide Sequences for PRPF6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PRPF6: view

No data available for Gene Families and UniProtKB/Swiss-Prot for PRPF6 Gene

Function for PRPF6 Gene

Molecular function for PRPF6 Gene

UniProtKB/Swiss-Prot Function:
Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation.

Gene Ontology (GO) - Molecular Function for PRPF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IGI 16414017
GO:0003723 RNA binding IDA 20797886
GO:0005515 protein binding IPI 12620389
GO:0043021 ribonucleoprotein complex binding IDA 10788320
GO:0050681 androgen receptor binding IPI 16414017
genes like me logo Genes that share ontologies with PRPF6: view
genes like me logo Genes that share phenotypes with PRPF6: view

Human Phenotype Ontology for PRPF6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRPF6 Gene

MGI Knock Outs for PRPF6:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PRPF6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRPF6 Gene

Localization for PRPF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRPF6 Gene

Nucleus, nucleoplasm. Nucleus speckle. Note=Localized in splicing speckles.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRPF6 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PRPF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16414017
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex NAS 10788320
GO:0005682 U5 snRNP IDA 10788320
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PRPF6: view

Pathways & Interactions for PRPF6 Gene

genes like me logo Genes that share pathways with PRPF6: view

Pathways by source for PRPF6 Gene

1 KEGG pathway for PRPF6 Gene

Gene Ontology (GO) - Biological Process for PRPF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000244 spliceosomal tri-snRNP complex assembly IMP 15257298
GO:0000245 spliceosomal complex assembly NAS 10788320
GO:0000375 RNA splicing, via transesterification reactions NAS 10788320
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006396 RNA processing IEA --
genes like me logo Genes that share ontologies with PRPF6: view

No data available for SIGNOR curated interactions for PRPF6 Gene

Drugs & Compounds for PRPF6 Gene

(3) Drugs for PRPF6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PRPF6: view

Transcripts for PRPF6 Gene

mRNA/cDNA for PRPF6 Gene

Unigene Clusters for PRPF6 Gene

PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PRPF6

Alternative Splicing Database (ASD) splice patterns (SP) for PRPF6 Gene

No ASD Table

Relevant External Links for PRPF6 Gene

GeneLoc Exon Structure for
PRPF6
ECgene alternative splicing isoforms for
PRPF6

Expression for PRPF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRPF6 Gene

Protein differential expression in normal tissues from HIPED for PRPF6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PRPF6 Gene



Protein tissue co-expression partners for PRPF6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRPF6 Gene:

PRPF6

SOURCE GeneReport for Unigene cluster for PRPF6 Gene:

Hs.31334

mRNA Expression by UniProt/SwissProt for PRPF6 Gene:

O94906-PRP6_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for PRPF6 Gene

  • Intestine(4.5)
  • Liver(4.3)
  • Nervous system(4)
  • Pancreas(3.9)
  • Lung(3.2)
  • Skin(3)
  • Eye(2.7)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRPF6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with PRPF6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PRPF6 Gene

Orthologs for PRPF6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PRPF6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRPF6 34 35
  • 99.57 (n)
oppossum
(Monodelphis domestica)
Mammalia PRPF6 35
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPF6 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRPF6 34 35
  • 91.64 (n)
cow
(Bos Taurus)
Mammalia PRPF6 34 35
  • 89.66 (n)
mouse
(Mus musculus)
Mammalia Prpf6 34 16 35
  • 88.63 (n)
rat
(Rattus norvegicus)
Mammalia Prpf6 34
  • 88.59 (n)
chicken
(Gallus gallus)
Aves PRPF6 34 35
  • 82.39 (n)
lizard
(Anolis carolinensis)
Reptilia PRPF6 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prpf6 34
  • 80.92 (n)
Str.1900 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3510 34
zebrafish
(Danio rerio)
Actinopterygii PRPF6 (1 of 2) 35
  • 80 (a)
OneToMany
prpf6 34 35
  • 79.34 (n)
wufa05f07 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005640 34
  • 67.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6841 34 35
  • 66.41 (n)
worm
(Caenorhabditis elegans)
Secernentea prp-6 34 35
  • 55.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP6 35 37
  • 28 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2770 34
  • 57.99 (n)
rice
(Oryza sativa)
Liliopsida Os10g0498600 34
  • 57.34 (n)
Os.21457 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2072 35
  • 56 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04606 34
  • 53.89 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp1 34
  • 51.01 (n)
Species where no ortholog for PRPF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRPF6 Gene

ENSEMBL:
Gene Tree for PRPF6 (if available)
TreeFam:
Gene Tree for PRPF6 (if available)

Paralogs for PRPF6 Gene

No data available for Paralogs for PRPF6 Gene

Variants for PRPF6 Gene

Sequence variations from dbSNP and Humsavar for PRPF6 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs387907100 Pathogenic, Retinitis pigmentosa 60 (RP60) [MIM:613983] 64,027,138(+) AGGCG(C/T)GGGAA reference, missense
rs527236096 Likely pathogenic 63,995,027(+) TTCCT(C/G)ACAGT reference, missense
rs111366685 Likely benign 64,011,428(+) ATGGT(A/G)GAGAA intron-variant, reference, synonymous-codon
rs113298469 Likely benign 64,028,467(+) GGGCC(C/T)GTCTC intron-variant
rs114227570 Likely benign 63,981,167(+) GACGT(C/T)GAAGC upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PRPF6 Gene

Variant ID Type Subtype PubMed ID
esv1033490 CNV deletion 17803354
esv2378872 CNV deletion 18987734
esv24865 CNV loss 19812545
esv2677716 CNV deletion 23128226
esv2758807 CNV gain+loss 17122850
esv989902 CNV deletion 20482838
nsv1073088 CNV deletion 25765185
nsv1147933 CNV deletion 26484159
nsv1160691 CNV deletion 26073780
nsv428381 CNV gain+loss 18775914
nsv469773 CNV gain 16826518
nsv470564 CNV gain 18288195
nsv509784 CNV insertion 20534489
nsv509785 CNV insertion 20534489
nsv586703 CNV loss 21841781
nsv820696 CNV deletion 20802225
nsv953310 CNV deletion 24416366
nsv9830 CNV gain 18304495
nsv9831 CNV gain+loss 18304495

Variation tolerance for PRPF6 Gene

Residual Variation Intolerance Score: 1.28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRPF6 Gene

Human Gene Mutation Database (HGMD)
PRPF6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRPF6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRPF6 Gene

Disorders for PRPF6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PRPF6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 60
  • rp60
prpf6-related retinitis pigmentosa
  • retinitis pigmentosa 60
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search PRPF6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRP6_HUMAN
  • Retinitis pigmentosa 60 (RP60) [MIM:613983]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:21549338}. Note=The disease may be caused by mutations affecting the gene represented in this entry. Cells from RP60 patients show intron retention for pre-mRNA bearing specific splicing signals.

Relevant External Links for PRPF6

Human Genome Epidemiology (HuGE) Navigator
PRPF6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRPF6
genes like me logo Genes that share disorders with PRPF6: view

No data available for Genatlas for PRPF6 Gene

Publications for PRPF6 Gene

  1. Activation function-1 domain of androgen receptor contributes to the interaction between subnuclear splicing factor compartment and nuclear receptor compartment. Identification of the p102 U5 small nuclear ribonucleoprotein particle-binding protein as a coactivator for the receptor. (PMID: 12039962) Zhao Y. … Nawata H. (J. Biol. Chem. 2002) 3 4 22 64
  2. Isoform-specific localization of A-RAF in mitochondria. (PMID: 10848612) Yuryev A. … Wennogle L.P. (Mol. Cell. Biol. 2000) 3 4 22 64
  3. The human homologue of the yeast splicing factor Prp6p contains multiple TPR elements and is stably associated with the U5 snRNP via protein-protein interactions. (PMID: 10788320) Makarov E.M. … Luehrmann R. (J. Mol. Biol. 2000) 2 3 4 64
  4. A novel mammalian nuclear protein similar to Schizosaccharomyces pombe Prp1p/Zer1p and Saccharomyces cerevisiae Prp6p pre-mRNA splicing factors. (PMID: 10561546) Nishikimi A. … Yamada M. (Biochim. Biophys. Acta 1999) 2 3 4 64
  5. A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. (PMID: 21549338) Tanackovic G. … Rivolta C. (Am. J. Hum. Genet. 2011) 3 4 64

Products for PRPF6 Gene

  • Addgene plasmids for PRPF6

Sources for PRPF6 Gene

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