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Aliases for PRPF6 Gene

Aliases for PRPF6 Gene

  • Pre-MRNA Processing Factor 6 2 3
  • C20orf14 3 4 6
  • Androgen Receptor N-Terminal Domain-Transactivating Protein 1 3 4
  • U5 SnRNP-Associated 102 KDa Protein 3 4
  • U5-102 KDa Protein 3 4
  • PRP6 Homolog 3 4
  • ANT-1 3 4
  • ANT1 3 6
  • Prp6 3 6
  • TOM 3 6
  • 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
  • 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
  • RP60 3

External Ids for PRPF6 Gene

Previous Symbols for PRPF6 Gene

  • C20orf14

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 Gene Expression and Spliceosome. GO annotations related to this gene include RNA binding and androgen receptor binding.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPF6 Gene

Genomics for PRPF6 Gene

Genomic Location for PRPF6 Gene

Start:
63,981,064 bp from pter
End:
64,033,100 bp from pter
Size:
52,037 bases
Orientation:
Plus strand

Genomic View for PRPF6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRPF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPF6 Gene

Regulatory Elements 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, NHP2L1, 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.

    Alternative splice isoforms for PRPF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRPF6 Gene

Proteomics data for PRPF6 Gene at MOPED

Post-translational modifications for PRPF6 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys178, Lys618, and Lys775

Other Protein References for PRPF6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for PRPF6 Gene

Domains for PRPF6 Gene

Suggested Antigen Peptide Sequences for PRPF6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94906

UniProtKB/Swiss-Prot:

PRP6_HUMAN
Similarity:
  • Contains 9 HAT repeats.:
    • O94906
genes like me logo Genes that share domains with PRPF6: view

No data available for Gene Families 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:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with PRPF6: view
genes like me logo Genes that share phenotypes with PRPF6: view

miRNA for PRPF6 Gene

miRTarBase miRNAs that target PRPF6

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for PRPF6 Gene 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:0005622 intracellular --
GO:0005634 nucleus IDA 16414017
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex NAS 10788320
GO:0005682 U5 snRNP IDA 10788320
genes like me logo Genes that share ontologies with PRPF6: view

Pathways 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 --
genes like me logo Genes that share ontologies with PRPF6: view

Compounds for PRPF6 Gene

(3) Novoseek inferred chemical compound relationships for PRPF6 Gene

Compound -log(P) Hits PubMed IDs
iron 33.7 2
testosterone 29.3 2
estrogen 13.3 2
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:

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 for PRPF6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRPF6 Gene

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.
genes like me logo Genes that share expressions with PRPF6: view

No data available for 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 35
  • 99.57 (n)
  • 100 (a)
PRPF6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRPF6 35
  • 89.66 (n)
  • 97.34 (a)
PRPF6 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRPF6 35
  • 91.64 (n)
  • 97.66 (a)
PRPF6 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prpf6 35
  • 88.63 (n)
  • 98.3 (a)
Prpf6 16
Prpf6 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRPF6 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPF6 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prpf6 35
  • 88.59 (n)
  • 98.19 (a)
chicken
(Gallus gallus)
Aves PRPF6 35
  • 82.39 (n)
  • 97.24 (a)
PRPF6 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRPF6 36
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3510 35
tropical clawed frog
(Silurana tropicalis)
Amphibia prpf6 35
  • 80.92 (n)
  • 95.43 (a)
Str.1900 35
zebrafish
(Danio rerio)
Actinopterygii prpf6 35
  • 79.34 (n)
  • 92.72 (a)
prpf6 36
  • 85 (a)
OneToMany
PRPF6 (1 of 2) 36
  • 80 (a)
OneToMany
wufa05f07 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005640 35
  • 67.47 (n)
  • 73.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6841 35
  • 66.41 (n)
  • 73.71 (a)
CG6841 36
  • 72 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea prp-6 35
  • 55.76 (n)
  • 57.53 (a)
prp-6 36
  • 54 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP6 36
  • 28 (a)
OneToOne
PRP6 38
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2770 35
  • 57.99 (n)
  • 56.59 (a)
rice
(Oryza sativa)
Liliopsida Os.21457 35
Os10g0498600 35
  • 57.34 (n)
  • 55.96 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04606 35
  • 53.89 (n)
  • 48.22 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp1 35
  • 51.01 (n)
  • 48.77 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2072 36
  • 56 (a)
OneToOne
Species with no ortholog for PRPF6:
  • 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 MAF
rs709013 -- 64,025,577(+) GGTTG(C/G)GTGTG intron-variant
rs816911 -- 64,012,487(+) TACAC(C/T)TACGA intron-variant
rs816912 -- 64,011,923(+) TCTCA(C/T)GGCTT intron-variant
rs816913 -- 64,013,056(+) ACCTC(C/T)TGGGT intron-variant
rs816914 -- 64,013,084(+) GTCAG(C/T)CACCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv913190 CNV Loss 21882294
nsv428381 CNV Gain+Loss 18775914
nsv509784 CNV Insertion 20534489
nsv913269 CNV Loss 21882294
nsv469773 CNV Gain 16826518
nsv913270 CNV Loss 21882294
dgv4653n71 CNV Loss 21882294
dgv4654n71 CNV Loss 21882294
dgv4656n71 CNV Loss 21882294
nsv913285 CNV Gain 21882294
nsv913287 CNV Loss 21882294
nsv913288 CNV Gain 21882294
nsv9830 CNV Gain 18304495
dgv4657n71 CNV Loss 21882294
nsv509785 CNV Insertion 20534489
dgv1346e1 CNV Complex 17122850
dgv1347e1 CNV Complex 17122850
nsv9831 CNV Gain+Loss 18304495
esv24865 CNV Loss 19812545
nsv820696 CNV Deletion 20802225
esv1033490 CNV Deletion 17803354
esv989902 CNV Deletion 20482838
dgv4658n71 CNV Loss 21882294
dgv4659n71 CNV Loss 21882294
nsv913304 CNV Loss 21882294
esv2378872 CNV Deletion 18987734
nsv913305 CNV Loss 21882294
nsv470564 CNV Gain 18288195
esv2677716 CNV Deletion 23128226

Relevant External Links for PRPF6 Gene

HapMap Linkage Disequilibrium report
PRPF6
Human Gene Mutation Database (HGMD)
PRPF6

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

Disorders for PRPF6 Gene

(1) OMIM Diseases for PRPF6 Gene (613979)

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.

(1) University of Copenhagen DISEASES for PRPF6 Gene

Relevant External Links for PRPF6

Human Genome Epidemiology (HuGE) Navigator
PRPF6
genes like me logo Genes that share disorders with PRPF6: view

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 23
  2. 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
  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
  4. Isoform-specific localization of A-RAF in mitochondria. (PMID: 10848612) Yuryev A. … Wennogle L.P. (Mol. Cell. Biol. 2000) 3 4 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for PRPF6 Gene

  • Addgene plasmids for PRPF6

Sources for PRPF6 Gene

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