O94906 (PRP6_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 127.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Pre-mRNA-processing factor 6 Alternative name(s): Androgen receptor N-terminal domain-transactivating protein 1 Short name=ANT-1 PRP6 homolog U5 snRNP-associated 102 kDa protein Short name=U5-102 kDa protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 941 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. Ref.8 |
| Subunit 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. Ref.2 Ref.3 Ref.8 Ref.9 Ref.10 |
| Subcellular location | Nucleus › nucleoplasm. Nucleus speckle. Note: Localized in splicing speckles. Ref.1 Ref.8 Ref.15 |
| Tissue specificity | Widely expressed. Ref.8 |
| Involvement in disease | 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. |
| Sequence similarities | Contains 9 HAT repeats. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ARAF | P10398 | 4 | EBI-536755,EBI-365961 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O94906-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: O94906-2) The sequence of this isoform differs from the canonical sequence as follows: 637-676: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 941 | 941 | Pre-mRNA-processing factor 6 | PRO_0000205759 | |||||
Regions | |||||||||
| Repeat | 384 – 416 | 33 | HAT 1 | ||||||
| Repeat | 418 – 444 | 27 | HAT 2 | ||||||
| Repeat | 445 – 476 | 32 | HAT 3 | ||||||
| Repeat | 554 – 586 | 33 | HAT 4 | ||||||
| Repeat | 588 – 620 | 33 | HAT 5 | ||||||
| Repeat | 622 – 654 | 33 | HAT 6 | ||||||
| Repeat | 689 – 721 | 33 | HAT 7 | ||||||
| Repeat | 723 – 755 | 33 | HAT 8 | ||||||
| Repeat | 855 – 887 | 33 | HAT 9 | ||||||
| Compositional bias | 67 – 72 | 6 | Poly-Asp | ||||||
Amino acid modifications | |||||||||
| Modified residue | 266 | 1 | Phosphothreonine Ref.11 Ref.13 | ||||||
| Modified residue | 275 | 1 | Phosphothreonine Ref.11 Ref.13 | ||||||
| Modified residue | 279 | 1 | Phosphoserine Ref.11 Ref.13 | ||||||
Natural variations | |||||||||
| Alternative sequence | 637 – 676 | 40 | Missing in isoform 2. | VSP_041857 | |||||
| Natural variant | 729 | 1 | R → W in RP60; mislocalized in Cajal bodies; partial loss of localization in splicing speckles. Ref.15 | VAR_065768 | |||||
Experimental info | |||||||||
| Sequence conflict | 20 | 1 | G → W in AAD01798. Ref.3 | ||||||
| Sequence conflict | 223 | 1 | P → R in AAD01798. Ref.3 | ||||||
| Sequence conflict | 284 | 1 | H → R in BAG50938. Ref.4 | ||||||
| Sequence conflict | 421 | 1 | I → T in BAG36962. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A novel mammalian nuclear protein similar to Schizosaccharomyces pombe Prp1p/Zer1p and Saccharomyces cerevisiae Prp6p pre-mRNA splicing factors." Nishikimi A., Mukai J., Kioka N., Yamada M. Biochim. Biophys. Acta 1435:147-152(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 138-147; 300-309; 352-359; 776-784 AND 891-898, SUBCELLULAR LOCATION. Tissue: Cervix carcinoma. |
| [2] | "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." Makarov E.M., Makarova O.V., Achsel T., Luehrmann R. J. Mol. Biol. 298:567-575(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 324-334; 395-408; 755-768; 871-883 AND 917-924, INTERACTION WITH U5 AND U4/U6 SNRNPS. Tissue: Cervix carcinoma. |
| [3] | "Isoform-specific localization of A-RAF in mitochondria." Yuryev A., Ono M., Goff S.A., Macaluso F., Wennogle L.P. Mol. Cell. Biol. 20:4870-4878(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH ARAF1. Tissue: Cervix carcinoma. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Teratocarcinoma and Testis. |
| [5] | "The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. Rogers J.Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Colon. |
| [7] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 402-941. Tissue: Testis. |
| [8] | "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." Zhao Y., Goto K., Saitoh M., Yanase T., Nomura M., Okabe T., Takayanagi R., Nawata H. J. Biol. Chem. 277:30031-30039(2002) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH AR AND NR3C1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [9] | "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis." Jurica M.S., Licklider L.J., Gygi S.P., Grigorieff N., Moore M.J. RNA 8:426-439(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE SPLICEOSOMAL C COMPLEX. |
| [10] | "The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP." Liu S., Rauhut R., Vornlocher H.-P., Luehrmann R. RNA 12:1418-1430(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT. |
| [11] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-266; THR-275 AND SER-279, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [12] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell. |
| [13] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-266; THR-275 AND SER-279, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [14] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [15] | "A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa." Tanackovic G., Ransijn A., Ayuso C., Harper S., Berson E.L., Rivolta C. Am. J. Hum. Genet. 88:643-649(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT RP60 TRP-729, SUBCELLULAR LOCATION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB019219 mRNA. Translation: BAA37140.1. AF221842 mRNA. Translation: AAF66128.1. AF026031 mRNA. Translation: AAD01798.1. AK001554 mRNA. Translation: BAG50938.1. AK314310 mRNA. Translation: BAG36962.1. AL356790, AL118506, AL355803 Genomic DNA. Translation: CAH71582.1. AL118506, AL355803, AL356790 Genomic DNA. Translation: CAI21906.1. AL355803, AL118506, AL356790 Genomic DNA. Translation: CAC16610.2. BC001666 mRNA. Translation: AAH01666.1. AL137320 mRNA. Translation: CAB70695.1. |
| IPI | IPI00305068. |
| PIR | T46386. |
| RefSeq | NP_036601.2. NM_012469.3. |
| UniGene | Hs.31334. |
3D structure databases | |
| ProteinModelPortal | O94906. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-29006N. |
| IntAct | O94906. 11 interactions. |
| MINT | MINT-260551. |
| STRING | 9606.ENSP00000266079. |
PTM databases | |
| PhosphoSite | O94906. |
Proteomic databases | |
| PaxDb | O94906. |
| PeptideAtlas | O94906. |
| PRIDE | O94906. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000266079; ENSP00000266079; ENSG00000101161. ENST00000535781; ENSP00000446216; ENSG00000101161. |
| GeneID | 24148. |
| KEGG | hsa:24148. |
| UCSC | uc002yho.3. human. |
Organism-specific databases | |
| CTD | 24148. |
| GeneCards | GC20P062612. |
| HGNC | HGNC:15860. PRPF6. |
| HPA | HPA047106. |
| MIM | 613979. gene. 613983. phenotype. |
| neXtProt | NX_O94906. |
| Orphanet | 791. Retinitis pigmentosa. |
| PharmGKB | PA25682. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0457. |
| HOVERGEN | HBG023330. |
| InParanoid | O94906. |
| KO | K12855. |
| OMA | IWLRAAY. |
| OrthoDB | EOG4FTVZW. |
| PhylomeDB | O94906. |
Enzyme and pathway databases | |
| Reactome | REACT_1675. mRNA Processing. REACT_71. Gene Expression. |
Gene expression databases | |
| Bgee | O94906. |
| CleanEx | HS_PRPF6. |
| Genevestigator | O94906. |
| GermOnline | ENSG00000101161. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.25.40.10. 4 hits. |
| InterPro | IPR003107. HAT. IPR010491. PRP1_N. IPR027108. Prp6/Prp1. IPR013026. TPR-contain_dom. IPR011990. TPR-like_helical. IPR019734. TPR_repeat. [Graphical view] |
| PANTHER | PTHR11246:SF1. PTHR11246:SF1. 1 hit. |
| Pfam | PF06424. PRP1_N. 1 hit. PF13181. TPR_8. 1 hit. [Graphical view] |
| SMART | SM00386. HAT. 13 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | PRPF6. human. |
| GenomeRNAi | 24148. |
| NextBio | 46847. |
| SOURCE | Search... |
Entry information
| Entry name | PRP6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O94906 Secondary accession number(s): B2RAR5 Q9NTE6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 20 Human chromosome 20: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
