PRPF6 - pre-mRNA processing factor 6 Gene

Also Known as TOM; ANT1; Prp6; RP60; ANT-1; hPrp6; U5-102K; C20orf14; SNRNP102

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 24148

About PRPF6

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:63,981,132-64,033,100 (from NCBI)

This gene has 1 transcript (splice variant), 208 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 30.6), ovary (RPKM 27.5) and 25 other tissues.

Summary

The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind Androgen Receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]

PRPF6 Products (1)

mRNA	Protein	Name
NM_012469.4	NP_036601.2	pre-mRNA-processing factor 6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables RNA binding	IDA IDA: Inferred from direct assay	20797886	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16723661	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12620389	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	20118938	GOA
enables ribonucleoprotein complex binding	IDA IDA: Inferred from direct assay	10788320	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within RNA localization	IMP IMP: Inferred from mutant phenotype	20797886	GOA
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	21549338	GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16414017	GOA
involved in spliceosomal tri-snRNP complex assembly	IDA IDA: Inferred from direct assay	20118938	GOA
involved in spliceosomal tri-snRNP complex assembly	IMP IMP: Inferred from mutant phenotype	15257298	GOA

Cellular Component GO Annotation	Evidence	References	Source
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	10788320	GOA
part of U4/U6 x U5 tri-snRNP complex	IPI IPI: Inferred from physical interaction	30975767	GOA
part of U5 snRNP	IDA IDA: Inferred from direct assay	10788320	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	21549338	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16414017	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

PRPF6 Protein Structure

PRP1_N

TPR_8

0
200
400
600
800
941 a.a.

Protein Preferred Names	Protein Names
pre-mRNA-processing factor 6	PRP6 homolog

PRPF6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PRPF6	O94906	SNRNP200	Homo sapiens	O75643	TAP	27173435
Intra	PRPF6	O94906	SNRNP200	Homo sapiens	O75643	Pull Down	16723661
Intra	PRPF6	O94906	PRPF31	Homo sapiens	Q8WWY3	Pull Down	16723661
Intra	PRPF6	O94906	VIRMA	Homo sapiens	Q69YN4	Anti Bait CoIP	35709258
Intra	PRPF6	O94906	EFTUD2	Homo sapiens	Q15029	TAP	27173435
Intra	PRPF6	O94906	CD2BP2	Homo sapiens	O95400	Anti Tag CoIP	22365833
Intra	PRPF6	O94906	CD2BP2	Homo sapiens	O95400	TAP	27173435
Intra	PRPF6	O94906	CD2BP2	Homo sapiens	O95400	Y2H	22365833
Intra	PRPF6	O94906	CD2BP2	Homo sapiens	O95400	Y2H	15840814
Intra	PRPF6	O94906	PRPF8	Homo sapiens	Q6P2Q9	Pull Down	16723661
Intra	PRPF6	O94906	PRPF8	Homo sapiens	Q6P2Q9	TAP	27173435
Intra	PRPF6	O94906	CD2BP2	Homo sapiens	O95400	Pull Down	15840814
Intra	PRPF6	O94906	SART1	Homo sapiens	O43290	Y2H	16723661
Intra	PRPF6	O94906	SART1	Homo sapiens	O43290	Pull Down	16723661
Intra	PRPF6	O94906	PRPF3	Homo sapiens	O43395	Pull Down	16723661
Intra	PRPF6	O94906	TXNL4A	Homo sapiens	P83876	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

PRPF6 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811212	PRPF6 Antibody	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 60	RP60 Retinitis Pigmentosa, Type 60
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
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 Pigmentosa 33	RP33 Retinitis Pigmentosa, Type 33
Retinitis Pigmentosa 13	RP13 Retinitis Pigmentosa-13 Retinitis Pigmentosa, Type 13
Ceroid Lipofuscinosis, Neuronal, 4	Ceroid Lipofuscinosis, Neuronal, Parry Type Cln4b Disease Neuronal Ceroid Lipofuscinosis 4b CLN4B Autosomal Dominant Neuronal Ceroid Lipofuscinosis 4b Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Adult Neuronal Ceroid Lipofuscinosis CLN4 Ceroid Lipofuscinosis, Neuronal, 4 , Autosomal Dominant Neuronal Ceroid Lipofuscinosis 4 Neuronal Ceroid Lipofuscinosis 4 Parry Type Adult Neuronal Ceroid Lipofuscinosis 4b Kuf'S Disease Type B Kuf'S Disease, Autosomal Dominant Cln4 Disease Parry Disease Ceroid Lipofuscinosis, Neuronal 4 Ceroid Lipofuscinosis, Neuronal, 4b , Autosomal Dominant Kufs Disease Autosomal Dominant Neuronal Ceroid Lipofuscinosis Parry Type Ceroid Lipofuscinosis, Neuronal, 4, Parry Type Lipofuscinosis, Ceroid, Neuronal, Type 4, Parry Type
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
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
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
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
Mite Infestation	Mite Infestations Acariasis Infestation By Mites Nos
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 11	RP11 Retinitis Pigmentosa-11 Retinitis Pigmentosa, Type 11
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

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-176848	SKLB-Y13		98.44%	Unkown
HY-RS11215	PRPF6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PRPF6	VGNC	VGNC:33382
Mus musculus	PRPF6	MGD	MGI:1922946
Canis familiaris	PRPF6	VGNC	VGNC:45029
Felis catus	PRPF6	VGNC	VGNC:64378
Rattus norvegicus	PRPF6	RGD	RGD:1307103
Others	PRPF6	NCBI