PRPF8 - pre-mRNA processing factor 8 Gene

Also Known as PRP8; RP13; HPRP8; PRPC8; SNRNP220

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10594

About PRPF8

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,650,629-1,684,867 (from NCBI)

This gene has 22 transcripts (splice variants), 1 gene allele, 214 orthologues and is associated with 5 phenotypes. Ubiquitous expression in ovary (RPKM 48.3), testis (RPKM 47.0) and 25 other tissues.

Summary

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]

PRPF8 Products (1)

mRNA	Protein	Name
NM_006445.4	NP_006436.3	pre-mRNA-processing-splicing factor 8

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables K63-linked polyubiquitin modification-dependent protein binding	IDA IDA: Inferred from direct assay	20595234	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9774689	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	28781166	GOA
involved in spliceosomal tri-snRNP complex assembly	IDA IDA: Inferred from direct assay	20595234	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of U2-type catalytic step 1 spliceosome	IDA IDA: Inferred from direct assay	29301961	GOA
part of U2-type catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	28076346	GOA
part of U2-type precatalytic spliceosome	IDA IDA: Inferred from direct assay	28781166	GOA
part of U4/U6 x U5 tri-snRNP complex	IDA IDA: Inferred from direct assay	23793891	GOA
part of U4/U6 x U5 tri-snRNP complex	IPI IPI: Inferred from physical interaction	30975767	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22720776	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRPF8 Protein Structure

PRO8NT

PROCN

RRM_4

U5_2-snRNA_bdg

U6-snRNA_bdg

PRP8_domainIV

JAB

PROCT

0
400
800
1200
1600
2000
2335 a.a.

Protein Preferred Names	Protein Names
pre-mRNA-processing-splicing factor 8	220 kDa U5 snRNP-specific protein

PRPF8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PRPF8	Q6P2Q9	SNRNP200	Homo sapiens	O75643	Cosedimentation	9774689
Intra	PRPF8	Q6P2Q9	SNRNP200	Homo sapiens	O75643	Anti Tag CoIP	35271311
Intra	PRPF8	Q6P2Q9	H2BC21	Homo sapiens	Q16778	Crosslink	30021884
Intra	PRPF8	Q6P2Q9	SF3A2	Homo sapiens	Q15428	Affinity Chrom	17332742
Intra	PRPF8	Q6P2Q9	ECD	Homo sapiens	O95905	Anti Tag CoIP	35271311
Intra	PRPF8	Q6P2Q9	EFTUD2	Homo sapiens	Q15029	Far-WB	9774689
Intra	PRPF8	Q6P2Q9	EFTUD2	Homo sapiens	Q15029	Cosedimentation	9774689
Intra	PRPF8	Q6P2Q9	EFTUD2	Homo sapiens	Q15029	Anti Tag CoIP	35271311
Intra	PRPF8	Q6P2Q9	ZNF830	Homo sapiens	Q96NB3	Anti Tag CoIP	22365833
Intra	PRPF8	Q6P2Q9	PRPF19	Homo sapiens	Q9UMS4	Anti Tag CoIP	22365833
Intra	PRPF8	Q6P2Q9	PRPF19	Homo sapiens	Q9UMS4	Y2H	22365833
Intra	PRPF8	Q6P2Q9	PRPF6	Homo sapiens	O94906	Y2H	16723661
Intra	PRPF8	Q6P2Q9	PRPF6	Homo sapiens	O94906	Anti Tag CoIP	35271311
Intra	PRPF8	Q6P2Q9	SNRNP40	Homo sapiens	Q96DI7	Cosedimentation	9774689
Intra	PRPF8	Q6P2Q9	SNRNP40	Homo sapiens	Q96DI7	Anti Tag CoIP	35271311
Intra	PRPF8	Q6P2Q9	SART1	Homo sapiens	O43290	Anti Tag CoIP	35271311
Intra	PRPF8	Q6P2Q9	GPKOW	Homo sapiens	Q92917	Anti Tag CoIP	22365833
Intra	PRPF8	Q6P2Q9	GPKOW	Homo sapiens	Q92917	Y2H	22365833
Intra	PRPF8	Q6P2Q9	SLU7	Homo sapiens	O95391	Y2H	22365833
Intra	PRPF8	Q6P2Q9	WDR83	Homo sapiens	Q9BRX9	Y2H	22365833

Cross: Cross-species interaction Intra: Intraspecies interaction

PRPF8 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82014	PRPF8 Antibody (YA1759)	WB, IHC-P	Human

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 13	RP13 Retinitis Pigmentosa-13 Retinitis Pigmentosa, Type 13
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis
Retinitis Pigmentosa 33	RP33 Retinitis Pigmentosa, Type 33
Retinitis Pigmentosa 66	RP66 Retinitis Pigmentosa, Type 66
Retinitis Pigmentosa 31	RP31 Retinitis Pigmentosa-31 Retinitis Pigmentosa, Type 31
Mandibulofacial Dysostosis, Guion-Almeida Type	Mandibulofacial Dysostosis With Microcephaly Mandibulofacial Dysostosis-Microcephaly Syndrome MFDGA MFDM Mfdm Syndrome Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome Dysostosis, Mandibulofacial, Guion-Almeida Type
Retinitis Pigmentosa 9	RP9 Retinitis Pigmentosa-9 Retinitis Pigmentosa, Type 9
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Taybi-Linder Syndrome Brachymelic Primordial Dwarfism Cephaloskeletal Dysplasia Low-Birth-Weight Dwarfism With Skeletal Dysplasia Microcephalic Osteodysplastic Primordial Dwarfism Type I Osteodysplastic Primordial Dwarfism Type I Primordial Microcephalic Dwarfism, Crachami Type Osteodysplastic Primordial Dwarfism, Type 1 MOPD1 Mopd I Mopd Osteodysplastic Primordial Dwarfism, Type I Tals Microcephalic Osteodysplastic Primordial Dwarfism Type 1 Mopd 1 Microcephalic Osteodysplastic Primordial Dwarfism Types 1 And 3 Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii Mopd Types I And Iii Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type Primordial Microcephalic Dwarfism Crachami Type Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1
Retinitis Pigmentosa 17	RP17 Retinitis Pigmentosa-17 Retinitis Pigmentosa, Type 17
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Eye Degenerative Disease
Choroidal Dystrophy, Central Areolar, 1	Choroidal Sclerosis Choroidal Dystrophy Choroidal Dystrophy, Central Areolar Cacd Central Areolar Choroidal Dystrophy CACD1 Choroidal Dystrophy, Central Areolar 1 Choroidal Dystrophy Central Areolar Central Areolar Choroidal Sclerosis Choroidal Degenerations Areolar Atrophy Of The Macula Partial Central Choroid Dystrophy Degenerative Choroidopathy Chorioretinal Degeneration Hereditary Chorioretinal Degeneration Hereditary Degeneration Of Choroid Hereditary Choroidal Dystrophies Generalised Choroidal Dystrophy Hereditary Choroidopathy
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Retinitis Pigmentosa 11	RP11 Retinitis Pigmentosa-11 Retinitis Pigmentosa, Type 11
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11216	PRPF8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21700	Prpf8 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28218	Prpf8 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PRPF8	MGD	MGI:2179381
Macaca mulatta	PRPF8	VGNC	VGNC:76275
Felis catus	PRPF8	VGNC	VGNC:64379
Canis familiaris	PRPF8	VGNC	VGNC:45030
Bos taurus	PRPF8	VGNC	VGNC:33383
Rattus norvegicus	PRPF8	RGD	RGD:1305467
Others	PRPF8	NCBI