PRPF8 - pre-mRNA processing factor 8 Gene

Homo sapiens

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

Gene ID: 10594 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11216	PRPF8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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