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Protein

Pre-mRNA-processing factor 6

Gene

PRPF6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • androgen receptor binding Source: MGI
  • ribonucleoprotein complex binding Source: BHF-UCL
  • RNA binding Source: MGI
  • transcription coactivator activity Source: MGI

GO - Biological processi

  • mRNA splicing, via spliceosome Source: UniProtKB
  • positive regulation of transcription by RNA polymerase II Source: MGI
  • RNA localization Source: MGI
  • RNA splicing Source: UniProtKB
  • RNA splicing, via transesterification reactions Source: UniProtKB
  • spliceosomal complex assembly Source: UniProtKB
  • spliceosomal tri-snRNP complex assembly Source: BHF-UCL

Keywordsi

Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway
SignaLinkiO94906

Names & Taxonomyi

Protein namesi
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 namesi
Name:PRPF6
Synonyms:C20orf14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101161.7
HGNCiHGNC:15860 PRPF6
MIMi613979 gene
neXtProtiNX_O94906

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 60 (RP60)1 Publication
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.
Disease descriptionA 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.
See also OMIM:613983
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065768729R → W in RP60; mislocalized in Cajal bodies; partial loss of localization in splicing speckles. 1 PublicationCorresponds to variant dbSNP:rs387907100EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi24148
GeneReviewsiPRPF6
MalaCardsiPRPF6
MIMi613983 phenotype
OpenTargetsiENSG00000101161
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA25682

Polymorphism and mutation databases

BioMutaiPRPF6

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002057591 – 941Pre-mRNA-processing factor 6Add BLAST941

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei143PhosphoserineCombined sources1
Modified residuei180PhosphothreonineCombined sources1
Modified residuei266PhosphothreonineCombined sources1
Modified residuei275PhosphothreonineCombined sources1
Modified residuei279PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO94906
MaxQBiO94906
PaxDbiO94906
PeptideAtlasiO94906
PRIDEiO94906

PTM databases

iPTMnetiO94906
PhosphoSitePlusiO94906
SwissPalmiO94906

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000101161
CleanExiHS_PRPF6
GenevisibleiO94906 HS

Organism-specific databases

HPAiHPA047106

Interactioni

Subunit structurei

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.5 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • androgen receptor binding Source: MGI

Protein-protein interaction databases

BioGridi117298, 120 interactors
CORUMiO94906
DIPiDIP-29006N
IntActiO94906, 47 interactors
MINTiO94906
STRINGi9606.ENSP00000266079

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JCRelectron microscopy7.00G1-941[»]
5O9Zelectron microscopy4.50G1-941[»]
ProteinModelPortaliO94906
SMRiO94906
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati384 – 416HAT 1Add BLAST33
Repeati418 – 444HAT 2Add BLAST27
Repeati445 – 476HAT 3Add BLAST32
Repeati554 – 586HAT 4Add BLAST33
Repeati588 – 620HAT 5Add BLAST33
Repeati622 – 654HAT 6Add BLAST33
Repeati689 – 721HAT 7Add BLAST33
Repeati723 – 755HAT 8Add BLAST33
Repeati855 – 887HAT 9Add BLAST33

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi67 – 72Poly-Asp6

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0495 Eukaryota
ENOG410XRKD LUCA
GeneTreeiENSGT00550000075016
HOVERGENiHBG023330
InParanoidiO94906
KOiK12855
OMAiMKSARLE
OrthoDBiEOG091G01F5
PhylomeDBiO94906
TreeFamiTF105743

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR003107 HAT
IPR010491 PRP1_N
IPR027108 Prp6/Prp1/STA1
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PANTHERiPTHR11246:SF1 PTHR11246:SF1, 1 hit
PfamiView protein in Pfam
PF06424 PRP1_N, 1 hit
PF13181 TPR_8, 1 hit
SMARTiView protein in SMART
SM00386 HAT, 13 hits
SM00028 TPR, 3 hits
SUPFAMiSSF48452 SSF48452, 4 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O94906-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MNKKKKPFLG MPAPLGYVPG LGRGATGFTT RSDIGPARDA NDPVDDRHAP
60 70 80 90 100
PGKRTVGDQM KKNQAADDDD EDLNDTNYDE FNGYAGSLFS SGPYEKDDEE
110 120 130 140 150
ADAIYAALDK RMDERRKERR EQREKEEIEK YRMERPKIQQ QFSDLKRKLA
160 170 180 190 200
EVTEEEWLSI PEVGDARNKR QRNPRYEKLT PVPDSFFAKH LQTGENHTSV
210 220 230 240 250
DPRQTQFGGL NTPYPGGLNT PYPGGMTPGL MTPGTGELDM RKIGQARNTL
260 270 280 290 300
MDMRLSQVSD SVSGQTVVDP KGYLTDLNSM IPTHGGDIND IKKARLLLKS
310 320 330 340 350
VRETNPHHPP AWIASARLEE VTGKLQVARN LIMKGTEMCP KSEDVWLEAA
360 370 380 390 400
RLQPGDTAKA VVAQAVRHLP QSVRIYIRAA ELETDIRAKK RVLRKALEHV
410 420 430 440 450
PNSVRLWKAA VELEEPEDAR IMLSRAVECC PTSVELWLAL ARLETYENAR
460 470 480 490 500
KVLNKARENI PTDRHIWITA AKLEEANGNT QMVEKIIDRA ITSLRANGVE
510 520 530 540 550
INREQWIQDA EECDRAGSVA TCQAVMRAVI GIGIEEEDRK HTWMEDADSC
560 570 580 590 600
VAHNALECAR AIYAYALQVF PSKKSVWLRA AYFEKNHGTR ESLEALLQRA
610 620 630 640 650
VAHCPKAEVL WLMGAKSKWL AGDVPAARSI LALAFQANPN SEEIWLAAVK
660 670 680 690 700
LESENDEYER ARRLLAKARS SAPTARVFMK SVKLEWVQDN IRAAQDLCEE
710 720 730 740 750
ALRHYEDFPK LWMMKGQIEE QKEMMEKARE AYNQGLKKCP HSTPLWLLLS
760 770 780 790 800
RLEEKIGQLT RARAILEKSR LKNPKNPGLW LESVRLEYRA GLKNIANTLM
810 820 830 840 850
AKALQECPNS GILWSEAIFL EARPQRRTKS VDALKKCEHD PHVLLAVAKL
860 870 880 890 900
FWSQRKITKA REWFHRTVKI DSDLGDAWAF FYKFELQHGT EEQQEEVRKR
910 920 930 940
CESAEPRHGE LWCAVSKDIA NWQKKIGDIL RLVAGRIKNT F
Length:941
Mass (Da):106,925
Last modified:May 1, 1999 - v1
Checksum:i91C2F1ADCA439BE9
GO
Isoform 2 (identifier: O94906-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     637-676: Missing.

Note: No experimental confirmation available.
Show »
Length:901
Mass (Da):102,429
Checksum:i23ADD30A75374402
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti20G → W in AAD01798 (PubMed:10848612).Curated1
Sequence conflicti223P → R in AAD01798 (PubMed:10848612).Curated1
Sequence conflicti284H → R in BAG50938 (PubMed:14702039).Curated1
Sequence conflicti421I → T in BAG36962 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069766477N → S Very rare variant found in a family with neuronal ceroid lipofuscinosis carrying a causative mutation in DNAJC5; uncertain role as a disease phenotype modifier. 1 Publication1
Natural variantiVAR_065768729R → W in RP60; mislocalized in Cajal bodies; partial loss of localization in splicing speckles. 1 PublicationCorresponds to variant dbSNP:rs387907100EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_041857637 – 676Missing in isoform 2. 1 PublicationAdd BLAST40

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
AL118506 Genomic DNA No translation available.
AL355803 Genomic DNA No translation available.
AL356790 Genomic DNA No translation available.
BC001666 mRNA Translation: AAH01666.1
AL137320 mRNA Translation: CAB70695.1
CCDSiCCDS13550.1 [O94906-1]
PIRiT46386
RefSeqiNP_036601.2, NM_012469.3 [O94906-1]
UniGeneiHs.31334

Genome annotation databases

EnsembliENST00000266079; ENSP00000266079; ENSG00000101161 [O94906-1]
GeneIDi24148
KEGGihsa:24148
UCSCiuc002yho.4 human [O94906-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPRP6_HUMAN
AccessioniPrimary (citable) accession number: O94906
Secondary accession number(s): B2RAR5
, B3KMC6, O95109, Q5VXS5, Q9H3Z1, Q9H4T9, Q9H4U8, Q9NTE6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: May 1, 1999
Last modified: May 23, 2018
This is version 182 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

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