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O43395

- PRPF3_HUMAN

UniProt

O43395 - PRPF3_HUMAN

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Protein

U4/U6 small nuclear ribonucleoprotein Prp3

Gene
PRPF3, HPRP3, PRP3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Participates in pre-mRNA splicing. Part of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome.

GO - Molecular functioni

  1. identical protein binding Source: IntAct
  2. poly(A) RNA binding Source: UniProtKB
  3. protein binding Source: IntAct

GO - Biological processi

  1. mRNA processing Source: ProtInc
  2. mRNA splicing, via spliceosome Source: UniProtKB
  3. RNA splicing Source: ProtInc
  4. RNA splicing, via transesterification reactions Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

mRNA processing, mRNA splicing

Names & Taxonomyi

Protein namesi
Recommended name:
U4/U6 small nuclear ribonucleoprotein Prp3
Alternative name(s):
Pre-mRNA-splicing factor 3
Short name:
hPrp3
U4/U6 snRNP 90 kDa protein
Gene namesi
Name:PRPF3
Synonyms:HPRP3, PRP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:17348. PRPF3.

Subcellular locationi

Nucleus speckle
Note: Colocalizes with spliceosomal snRNPs.

GO - Cellular componenti

  1. Cajal body Source: BHF-UCL
  2. cytoplasm Source: HPA
  3. nuclear speck Source: UniProtKB-SubCell
  4. nucleus Source: HPA
  5. spliceosomal complex Source: UniProtKB
  6. U4/U6 x U5 tri-snRNP complex Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 18 (RP18) [MIM:601414]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti493 – 4931P → S in RP18. 1 Publication
VAR_046735
Natural varianti494 – 4941T → M in RP18; reduces phosphorylation; impairs binding to PRPF4; impairs self-association; affects interaction with the U4/U5/U6 tri-snRNP complex; does not affect global pre-mRNA splicing. 3 Publications
VAR_016877

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi601414. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA134892509.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 683683U4/U6 small nuclear ribonucleoprotein Prp3PRO_0000097044Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei164 – 1641Phosphoserine2 Publications
Modified residuei167 – 1671Phosphothreonine2 Publications
Modified residuei619 – 6191Phosphoserine5 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO43395.
PaxDbiO43395.
PRIDEiO43395.

PTM databases

PhosphoSiteiO43395.

Miscellaneous databases

PMAP-CutDBO43395.

Expressioni

Tissue specificityi

Highly expressed in retina, liver, kidney and blood. Detected at lower levels in heart and brain.1 Publication

Gene expression databases

ArrayExpressiO43395.
BgeeiO43395.
CleanExiHS_PRPF3.
GenevestigatoriO43395.

Organism-specific databases

HPAiHPA027226.

Interactioni

Subunit structurei

Interacts directly with PRPF4. Part of a heteromeric complex containing PPIH, PRPF3 and PRPF4 that is stable in the absence of RNA. 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 USP39.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-744322,EBI-744322
DVL3Q929972EBI-744322,EBI-739789
MFAP1P550812EBI-744322,EBI-1048159
NKAPQ8N5F72EBI-744322,EBI-721539
SF3B2Q134352EBI-744322,EBI-749111
SLU7O953912EBI-744322,EBI-750559
SMNDC1O759402EBI-744322,EBI-1052641
U2AF2P263682EBI-744322,EBI-742339

Protein-protein interaction databases

BioGridi114577. 73 interactions.
DIPiDIP-34508N.
IntActiO43395. 29 interactions.
MINTiMINT-1445186.
STRINGi9606.ENSP00000315379.

Structurei

Secondary structure

1
683
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi5 – 2319
Helixi28 – 3912
Helixi44 – 518
Turni52 – 554
Helixi56 – 583
Helixi60 – 7314

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1X4QNMR-A1-79[»]
ProteinModelPortaliO43395.
SMRiO43395. Positions 1-73.

Miscellaneous databases

EvolutionaryTraceiO43395.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 8787PWIAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi579 – 5846Poly-Val

Sequence similaritiesi

Contains 1 PWI domain.

Phylogenomic databases

eggNOGiNOG268901.
HOGENOMiHOG000205412.
HOVERGENiHBG053699.
InParanoidiO43395.
KOiK12843.
OMAiPWVERTV.
PhylomeDBiO43395.
TreeFamiTF313082.

Family and domain databases

Gene3Di1.20.1390.10. 1 hit.
InterProiIPR010541. DUF1115.
IPR013881. Pre-mRNA_splic_Prp3.
IPR027104. Prp3.
IPR002483. PWI_dom.
[Graphical view]
PANTHERiPTHR14212. PTHR14212. 1 hit.
PfamiPF06544. DUF1115. 1 hit.
PF08572. PRP3. 1 hit.
PF01480. PWI. 1 hit.
[Graphical view]
SMARTiSM00311. PWI. 1 hit.
[Graphical view]
SUPFAMiSSF101233. SSF101233. 1 hit.
PROSITEiPS51025. PWI. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O43395-1 [UniParc]FASTAAdd to Basket

« Hide

MALSKRELDE LKPWIEKTVK RVLGFSEPTV VTAALNCVGK GMDKKKAADH    50
LKPFLDDSTL RFVDKLFEAV EEGRSSRHSK SSSDRSRKRE LKEVFGDDSE 100
ISKESSGVKK RRIPRFEEVE EEPEVIPGPP SESPGMLTKL QIKQMMEAAT 150
RQIEERKKQL SFISPPTPQP KTPSSSQPER LPIGNTIQPS QAATFMNDAI 200
EKARKAAELQ ARIQAQLALK PGLIGNANMV GLANLHAMGI APPKVELKDQ 250
TKPTPLILDE QGRTVDATGK EIELTHRMPT LKANIRAVKR EQFKQQLKEK 300
PSEDMESNTF FDPRVSIAPS QRQRRTFKFH DKGKFEKIAQ RLRTKAQLEK 350
LQAEISQAAR KTGIHTSTRL ALIAPKKELK EGDIPEIEWW DSYIIPNGFD 400
LTEENPKRED YFGITNLVEH PAQLNPPVDN DTPVTLGVYL TKKEQKKLRR 450
QTRREAQKEL QEKVRLGLMP PPEPKVRISN LMRVLGTEAV QDPTKVEAHV 500
RAQMAKRQKA HEEANAARKL TAEQRKVKKI KKLKEDISQG VHISVYRVRN 550
LSNPAKKFKI EANAGQLYLT GVVVLHKDVN VVVVEGGPKA QKKFKRLMLH 600
RIKWDEQTSN TKGDDDEESD EEAVKKTNKC VLVWEGTAKD RSFGEMKFKQ 650
CPTENMAREH FKKHGAEHYW DLALSESVLE STD 683
Length:683
Mass (Da):77,529
Last modified:September 26, 2003 - v2
Checksum:i4AA6AA4C99110284
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121K → N.
Corresponds to variant rs12736964 [ dbSNP | Ensembl ].
VAR_051286
Natural varianti493 – 4931P → S in RP18. 1 Publication
VAR_046735
Natural varianti494 – 4941T → M in RP18; reduces phosphorylation; impairs binding to PRPF4; impairs self-association; affects interaction with the U4/U5/U6 tri-snRNP complex; does not affect global pre-mRNA splicing. 3 Publications
VAR_016877

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti142 – 1421I → T in AAC09069. 1 Publication
Sequence conflicti273 – 2742EL → SV in AAC09069. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF001947 mRNA. Translation: AAC09069.1.
AF016370 mRNA. Translation: AAC51926.1.
AL611942 Genomic DNA. Translation: CAH70312.1.
CH471121 Genomic DNA. Translation: EAW53556.1.
BC000184 mRNA. Translation: AAH00184.1.
BC001954 mRNA. Translation: AAH01954.1.
CCDSiCCDS951.1.
PIRiT50839.
T50840.
RefSeqiNP_004689.1. NM_004698.2.
UniGeneiHs.11776.

Genome annotation databases

EnsembliENST00000324862; ENSP00000315379; ENSG00000117360.
ENST00000578639; ENSP00000463536; ENSG00000265228.
GeneIDi9129.
KEGGihsa:9129.
UCSCiuc001eum.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF001947 mRNA. Translation: AAC09069.1 .
AF016370 mRNA. Translation: AAC51926.1 .
AL611942 Genomic DNA. Translation: CAH70312.1 .
CH471121 Genomic DNA. Translation: EAW53556.1 .
BC000184 mRNA. Translation: AAH00184.1 .
BC001954 mRNA. Translation: AAH01954.1 .
CCDSi CCDS951.1.
PIRi T50839.
T50840.
RefSeqi NP_004689.1. NM_004698.2.
UniGenei Hs.11776.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1X4Q NMR - A 1-79 [» ]
ProteinModelPortali O43395.
SMRi O43395. Positions 1-73.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114577. 73 interactions.
DIPi DIP-34508N.
IntActi O43395. 29 interactions.
MINTi MINT-1445186.
STRINGi 9606.ENSP00000315379.

PTM databases

PhosphoSitei O43395.

Proteomic databases

MaxQBi O43395.
PaxDbi O43395.
PRIDEi O43395.

Protocols and materials databases

DNASUi 9129.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000324862 ; ENSP00000315379 ; ENSG00000117360 .
ENST00000578639 ; ENSP00000463536 ; ENSG00000265228 .
GeneIDi 9129.
KEGGi hsa:9129.
UCSCi uc001eum.4. human.

Organism-specific databases

CTDi 9129.
GeneCardsi GC01P150293.
GeneReviewsi PRPF3.
HGNCi HGNC:17348. PRPF3.
HPAi HPA027226.
MIMi 601414. phenotype.
607301. gene.
neXtProti NX_O43395.
Orphaneti 791. Retinitis pigmentosa.
PharmGKBi PA134892509.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG268901.
HOGENOMi HOG000205412.
HOVERGENi HBG053699.
InParanoidi O43395.
KOi K12843.
OMAi PWVERTV.
PhylomeDBi O43395.
TreeFami TF313082.

Miscellaneous databases

EvolutionaryTracei O43395.
GeneWikii PRPF3.
GenomeRNAii 9129.
NextBioi 34221.
PMAP-CutDB O43395.
PROi O43395.
SOURCEi Search...

Gene expression databases

ArrayExpressi O43395.
Bgeei O43395.
CleanExi HS_PRPF3.
Genevestigatori O43395.

Family and domain databases

Gene3Di 1.20.1390.10. 1 hit.
InterProi IPR010541. DUF1115.
IPR013881. Pre-mRNA_splic_Prp3.
IPR027104. Prp3.
IPR002483. PWI_dom.
[Graphical view ]
PANTHERi PTHR14212. PTHR14212. 1 hit.
Pfami PF06544. DUF1115. 1 hit.
PF08572. PRP3. 1 hit.
PF01480. PWI. 1 hit.
[Graphical view ]
SMARTi SM00311. PWI. 1 hit.
[Graphical view ]
SUPFAMi SSF101233. SSF101233. 1 hit.
PROSITEi PS51025. PWI. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome."
    Wang A., Forman-Kay J., Luo Y., Luo M., Chow Y.-H., Plumb J., Friesen J.D., Tsui L.-C., Heng H.H.Q., Woolford J.L. Jr., Hu J.
    Hum. Mol. Genet. 6:2117-2126(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH PRPF4 AND U4/U5/U6 SNRNPS.
  2. "A new cyclophilin and the human homologues of yeast Prp3 and Prp4 form a complex associated with U4/U6 snRNPs."
    Horowitz D.S., Kobayashi R., Krainer A.R.
    RNA 3:1374-1387(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 93-101; 253-267; 351-361; 409-428 AND 560-576, INTERACTION WITH PPIH; PRPF4 AND U4/U6 SNRNPS.
    Tissue: Neuroepithelium.
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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].
    Tissue: Eye and Skin.
  6. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-619, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "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.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-164 AND THR-167, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography."
    Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.
    Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-619, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  10. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-619, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  12. "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 SER-164; THR-167 AND SER-619, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-619, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. "Solution structure of PWI domain in U4/U6 small nuclear ribonucleoprotein PRP3(HPRP3)."
    RIKEN structural genomics initiative (RSGI)
    Submitted (NOV-2005) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 1-79.
  16. "Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa."
    Chakarova C.F., Hims M.M., Bolz H., Abu-Safieh L., Patel R.J., Papaioannou M.G., Inglehearn C.F., Keen T.J., Willis C., Moore A.T., Rosenberg T., Webster A.R., Bird A.C., Gal A., Hunt D., Vithana E.N., Bhattacharya S.S.
    Hum. Mol. Genet. 11:87-92(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP18 SER-493 AND MET-494, TISSUE SPECIFICITY.
  17. "Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa."
    Martinez-Gimeno M., Gamundi M.J., Hernan I., Maseras M., Milla E., Ayuso C., Garcia-Sandoval B., Beneyto M., Vilela C., Baiget M., Antinolo G., Carballo M.
    Invest. Ophthalmol. Vis. Sci. 44:2171-2177(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP18 MET-494.
  18. "Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex."
    Gonzalez-Santos J.M., Cao H., Duan R.C., Hu J.
    Hum. Mol. Genet. 17:225-239(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT RP18 MET-494.

Entry informationi

Entry nameiPRPF3_HUMAN
AccessioniPrimary (citable) accession number: O43395
Secondary accession number(s): O43446, Q5VT54
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: September 26, 2003
Last modified: September 3, 2014
This is version 137 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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