PRPF3

PRPF3

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
1X4Q, 3JCR

Identifiers

Aliases

PRPF3, pre-mRNA processing factor 3, HPRP3, HPRP3P, PRP3, Prp3p, RP18, SNRNP90

External IDs

OMIM: 607301 MGI: 1918017 HomoloGene: 3447 GeneCards: PRPF3

Gene location (Human)

Chr.	Chromosome 1 (human)^[1]

Band	1q21.2	Start	150,321,479 bp^[1]
Band	1q21.2	End	150,353,233 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 3 (mouse)^[2]

Band	3\|3 F2.1	Start	95,737,436 bp^[2]
Band	3\|3 F2.1	End	95,763,197 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

sural nerve

right uterine tube

left lobe of thyroid gland

right lobe of thyroid gland

anterior pituitary

cerebellar hemisphere

canal of the cervix

Achilles tendon

body of pancreas

spleen

Top expressed in

primitive streak

yolk sac

otic placode

medullary collecting duct

Paneth cell

thymus

saccule

abdominal wall

morula

renal corpuscle

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	protein binding identical protein binding RNA binding
Cellular component	Cajal body U4/U6 x U5 tri-snRNP complex spliceosomal complex nucleus nucleoplasm cytosol nuclear speck protein-containing complex U2-type precatalytic spliceosome
Biological process	RNA splicing, via transesterification reactions mRNA splicing, via spliceosome mRNA processing spliceosomal tri-snRNP complex assembly RNA splicing
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


9129


70767

Ensembl


ENSG00000117360


ENSMUSG00000015748

UniProt


O43395


Q922U1

RefSeq (mRNA)


NM_004698 NM_001350529


NM_027541 NM_001316751

RefSeq (protein)


NP_004689 NP_001337458


NP_001303680 NP_081817

Location (UCSC)

Chr 1: 150.32 – 150.35 Mb

Chr 3: 95.74 – 95.76 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

U4/U6 small nuclear ribonucleoprotein Prp3 is a protein that in humans is encoded by the PRPF3 gene.^[5]

Function

The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. PRPF3 is one of several proteins that associate with U4 and U6 snRNPs.[supplied by OMIM]^[5]

Interactions

PRPF3 has been shown to interact with DVL3.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000117360 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000015748 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: PRPF3 PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)".
^ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Xu SY, Schwartz M, Rosenberg T, Gal A (Aug 1996). "A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1". Human Molecular Genetics. 5 (8): 1193–7. doi:10.1093/hmg/5.8.1193. PMID 8842740.
Wang A, Forman-Kay J, Luo Y, Luo M, Chow YH, Plumb J, Friesen JD, Tsui LC, Heng HH, Woolford JL, Hu J (Nov 1997). "Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome". Human Molecular Genetics. 6 (12): 2117–26. doi:10.1093/hmg/6.12.2117. PMID 9328476.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Horowitz DS, Kobayashi R, Krainer AR (Dec 1997). "A new cyclophilin and the human homologues of yeast Prp3 and Prp4 form a complex associated with U4/U6 snRNPs". RNA. 3 (12): 1374–87. PMC 1369579. PMID 9404889.
Heng HH, Wang A, Hu J (Mar 1998). "Mapping of the human HPRP3 and HPRP4 genes encoding U4/U6-associated splicing factors to chromosomes 1q21.1 and 9q31-q33". Genomics. 48 (2): 273–5. doi:10.1006/geno.1997.5181. PMID 9521884.
Xu SY, Rosenberg T, Gal A (Apr 1998). "Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q". Human Genetics. 102 (4): 493–4. doi:10.1007/s004390050728. PMID 9600251. S2CID 39815355.
Reidt U, Reuter K, Achsel T, Ingelfinger D, Lührmann R, Ficner R (Mar 2000). "Crystal structure of the human U4/U6 small nuclear ribonucleoprotein particle-specific SnuCyp-20, a nuclear cyclophilin" (PDF). The Journal of Biological Chemistry. 275 (11): 7439–42. doi:10.1074/jbc.275.11.7439. PMID 10713041. S2CID 20261807.
Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS (Jan 2002). "Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa". Human Molecular Genetics. 11 (1): 87–92. doi:10.1093/hmg/11.1.87. PMID 11773002.
Horowitz DS, Lee EJ, Mabon SA, Misteli T (Feb 2002). "A cyclophilin functions in pre-mRNA splicing". The EMBO Journal. 21 (3): 470–80. doi:10.1093/emboj/21.3.470. PMC 125845. PMID 11823439.
Gonzalez-Santos JM, Wang A, Jones J, Ushida C, Liu J, Hu J (Jun 2002). "Central region of the human splicing factor Hprp3p interacts with Hprp4p". The Journal of Biological Chemistry. 277 (26): 23764–72. doi:10.1074/jbc.M111461200. PMID 11971898.
Nottrott S, Urlaub H, Lührmann R (Oct 2002). "Hierarchical, clustered protein interactions with U4/U6 snRNA: a biochemical role for U4/U6 proteins". The EMBO Journal. 21 (20): 5527–38. doi:10.1093/emboj/cdf544. PMC 129076. PMID 12374753.
Ajuh P, Chusainow J, Ryder U, Lamond AI (Dec 2002). "A novel function for human factor C1 (HCF-1), a host protein required for herpes simplex virus infection, in pre-mRNA splicing". The EMBO Journal. 21 (23): 6590–602. doi:10.1093/emboj/cdf652. PMC 136956. PMID 12456665.
Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M (May 2003). "Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa". Investigative Ophthalmology & Visual Science. 44 (5): 2171–7. doi:10.1167/iovs.02-0871. PMID 12714658.
Reidt U, Wahl MC, Fasshauer D, Horowitz DS, Lührmann R, Ficner R (Aug 2003). "Crystal structure of a complex between human spliceosomal cyclophilin H and a U4/U6 snRNP-60K peptide". Journal of Molecular Biology. 331 (1): 45–56. doi:10.1016/S0022-2836(03)00684-3. hdl:11858/00-001M-0000-0012-F238-B. PMID 12875835.
Wada Y, Itabashi T, Sato H, Tamai M (Nov 2004). "Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene". Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht von Graefes Archiv für Klinische und Experimentelle Ophthalmologie. 242 (11): 956–61. doi:10.1007/s00417-004-0923-x. PMID 15085354. S2CID 22773384.
Stanĕk D, Neugebauer KM (Sep 2004). "Detection of snRNP assembly intermediates in Cajal bodies by fluorescence resonance energy transfer". The Journal of Cell Biology. 166 (7): 1015–25. doi:10.1083/jcb.200405160. PMC 2172029. PMID 15452143.
Maita H, Kitaura H, Ariga H, Iguchi-Ariga SM (Jan 2005). "Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex". Experimental Cell Research. 302 (1): 61–8. doi:10.1016/j.yexcr.2004.08.022. PMID 15541726.

External links

GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview

v t e PDB gallery
1x4q: Solution structure of PWI domain in U4/U6 small nuclear ribonucleoprotein Prp3(hPrp3)

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

This page was last edited on 8 April 2022, at 19:54

From Wikipedia, the free encyclopedia

Function

Interactions

References

Further reading

External links