PRPF4 - pre-mRNA processing factor 4 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9128

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	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9570313	GOA

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

Cellular Component GO Annotation	Evidence	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

PRPF4 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82012	PRPF4 Antibody (YA1757)	WB, IHC-P, ICC/IF, IP, FC	Human
HY-P82012A	PRPF4 Antibody (YA1757)(PBS only)	WB, IHC-P, ICC/IF, IP, FC	Human

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

Pre-clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS11211	PRPF4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11214	PRPF4B Human Pre-designed siRNA Set A	Pre-designed Set	/	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