2. Gene
  3. PRPF6 - pre-mRNA processing factor 6 Gene

PRPF6 - pre-mRNA processing factor 6 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 24148 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

PRP1_N: PRP1 splicing factor, N-terminal (13 - 169)

TPR_8

TPR_8: Tetratricopeptide repeat (710 - 738)

  • 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 Reference
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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11215 PRPF6 Human Pre-designed siRNA Set A Pre-designed Sets / 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