PRPF4 - pre-mRNA processing factor 4 Gene

Homo sapiens

Also known as PRP4; RP70; HPRP4; Prp4p; HPRP4P; SNRNP60

Gene ID: 9128 | Gene type: protein coding

About PRPF4

Cytogenetic location: 9q32 Genomic coordinates (GRCh38): 9:113,275,658-113,292,905 (from NCBI)

This gene has 3 transcripts (splice variants), 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in appendix (RPKM 8.9), kidney (RPKM 8.4) and 25 other tissues.

Summary

The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian Cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]

PRPF4 Products(4)

mRNA	Protein	Name
NM_001244926.2	NP_001231855.1	U4/U6 small nuclear ribonucleoprotein Prp4 isoform 2
NM_001322266.2	NP_001309195.1	U4/U6 small nuclear ribonucleoprotein Prp4 isoform 3
NM_001322267.2	NP_001309196.1	U4/U6 small nuclear ribonucleoprotein Prp4 isoform 3
NM_004697.5	NP_004688.2	U4/U6 small nuclear ribonucleoprotein Prp4 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9570313	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	28781166	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Cajal body	IDA IDA: Inferred from direct assay	15257298	GOA
part of U2-type precatalytic spliceosome	IDA IDA: Inferred from direct assay	28781166	GOA
part of U4/U6 snRNP	IDA IDA: Inferred from direct assay	9570313	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
located in nuclear speck	IDA IDA: Inferred from direct assay	25383878	GOA
located in nucleus	IDA IDA: Inferred from direct assay	28781166	GOA
part of spliceosomal snRNP complex	IDA IDA: Inferred from direct assay	25383878	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

PRPF4 Protein Structure

PRP4

WD40

0
100
200
300
400
522 a.a.

Protein Preferred Names

Protein Names

U4/U6 small nuclear ribonucleoprotein Prp4

PRP4 homolog

PRPF4 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PRPF4	O43172	PPIH	Homo sapiens	O43447	Anti Tag CoIP	19615732
Intra	PRPF4	O43172	PPIH	Homo sapiens	O43447	Anti Tag CoIP	33961781
Intra	PRPF4	O43172	PPIH	Homo sapiens	O43447	Y2H	16723661
Intra	PRPF4	O43172	PPIH	Homo sapiens	O43447	BRET	29997244
Intra	PRPF4	O43172	GPKOW	Homo sapiens	Q92917	Y2H	22365833

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Retinitis Pigmentosa 70

RP70	Retinitis Pigmentosa, Type 70

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

Retinitis Pigmentosa 33

RP33	Retinitis Pigmentosa, Type 33

Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome	Syndromic Diarrhea
Tricho-Hepato-Enteric Syndrome	Sd/The
Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome	THES1
Phenotypic Diarrhea	Thes
Phenotypic Diarrhea Of Infancy	Diarrhea, Syndromic
Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa	Intractable Diarrhea With Phenotypic Anomalies
Syndromatic Diarrhea	Fatal Infantile Diarrhea With Trichorrhexis Nodosa

Trichohepatoenteric Syndrome 2

THES2

Night Blindness, Congenital Stationary, Autosomal Dominant 1

Congenital Stationary Night Blindness Autosomal Dominant 1	CSNBAD1
Rhodopsin-Related Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary, Rhodopsin-Related
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1

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

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

Burn-Mckeown Syndrome

Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome	Oculootofacial Dysplasia
BMKS	Oofd
Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance	Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome
Choanal Atresia Deafness Cardiac Defects Dysmorphism	Oculo-Oto-Facial Dysplasia

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

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

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11211	PRPF4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS11214	PRPF4B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PRPF4	VGNC	VGNC:64374
Bos taurus	PRPF4	VGNC	VGNC:33378
Mus musculus	PRPF4	MGD	MGI:1917302
Macaca mulatta	PRPF4	VGNC	VGNC:76278
Canis familiaris	PRPF4	VGNC	VGNC:45025
Rattus norvegicus	PRPF4	RGD	RGD:1311303
Others	PRPF4	NCBI

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