RP9 - RP9 pre-mRNA splicing factor Gene

Also Known as PAP1; PAP-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6100

About RP9

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:33,094,797-33,109,404 (from NCBI)

This gene has 7 transcripts (splice variants), 67 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 5.1), adrenal (RPKM 4.6) and 25 other tissues.

Summary

The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]

RP9 Products (1)

mRNA	Protein	Name
NM_203288.2	NP_976033.1	retinitis pigmentosa 9 protein

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15652350	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cognition	IMP IMP: Inferred from mutant phenotype	23227193	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

Protein Preferred Names	Protein Names
retinitis pigmentosa 9 protein	Pim-1 kinase associated protein

RP9 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RP9	Q8TA86	MMTAG2	Homo sapiens	Q9BU76	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 9	RP9 Retinitis Pigmentosa-9 Retinitis Pigmentosa, Type 9
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
Retinitis Pigmentosa 12	RP12 Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium Rp With Or Without Pprpe Retinitis Pigmentosa-12
Retinitis Pigmentosa 10	RP10 Retinitis Pigmentosa-10 Retinitis Pigmentosa, Type 10
Retinitis Pigmentosa 37	RP37 Retinitis Pigmentosa-37 Retinitis Pigmentosa, Type 37
Retinitis Pigmentosa 7	Leber Congenital Amaurosis 18 RP7 Retinitis Pigmentosa 7, Digenic Form Retinitis Pigmentosa 7 And Digenic Form Retinitis Pigmentosa 7, Digenic LCA18 Retinitis Pigmentosa 7 Digenic
Retinitis Pigmentosa 19	RP19 Retinitis Pigmentosa-19 Retinitis Pigmentosa, Type 19
Retinitis Pigmentosa 33	RP33 Retinitis Pigmentosa, Type 33
Retinitis Pigmentosa 18	RP18 Retinitis Pigmentosa-18 Retinitis Pigmentosa, Type 18
Retinitis Pigmentosa 17	RP17 Retinitis Pigmentosa-17 Retinitis Pigmentosa, Type 17
Retinitis Pigmentosa 31	RP31 Retinitis Pigmentosa-31 Retinitis Pigmentosa, Type 31
Bardet-Biedl Syndrome 9	BBS9 Bardet-Biedl Syndrome, Type 9
Cone-Rod Dystrophy 20	CORD20 Dystrophy, Cone-Rod, Type 20
Retinitis Pigmentosa 28	RP28 Retinitis Pigmentosa, Type 28
Retinitis Pigmentosa 27	RP27 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type Retinal Degeneration Autosomal Recessive Clumped Pigment Type RDCP Clumped Pigmentary Retinal Degeneration Retinitis Pigmentosa, Type 27
Retinitis Pigmentosa 6	RP6 Retinitis Pigmentosa, X-Linked Recessive, 6 Retinitis Pigmentosa-6, X-Linked Recessive
Retinitis Pigmentosa 3	RP3 Retinitis Pigmentosa 15 Rp15 Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women Cone-Rod Degeneration, X-Linked Retinitis Pigmentosa Type 15 X-Linked Cone-Rod Degeneration X-Linked Retinitis Pigmentosa 3 Xlrp3 Xlrp-3 Retinitis Pigmentosa-3 Retinitis Pigmentosa, Type 3
Retinitis Pigmentosa 24	RP24 Retinitis Pigmentosa-24
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
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
Vitreoretinochoroidopathy	Autosomal Dominant Vitreoretinochoroidopathy Advirc Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2 Vitreoretinochoroidopathy Dominant VRCP Vitreoretinochoroidopathy, Autosomal Dominant Vrcp Autosomal Dominant Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract
Inhalation Anthrax	Pulmonary Anthrax Respiratory Anthrax Inhalational Anthrax Wool-Sorters' Disease Woolsorters' Disease Inhalation Anthrax Disease Respiratory Anthrax Disease
Hereditary Retinal Dystrophy	Hereditary Retinal Dystrophies
Retinitis Pigmentosa 11	RP11 Retinitis Pigmentosa-11 Retinitis Pigmentosa, Type 11
Eye Degenerative Disease
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N2397	9''-Methyl salvianolate B		99.54%	Unkown
HY-RS12141	RP9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RP9	VGNC	VGNC:84753
Mus musculus	RP9	MGD	MGI:2157166
Bos taurus	RP9	VGNC	VGNC:34093
Rattus norvegicus	RP9	RGD	RGD:1559759
Canis familiaris	RP9	VGNC	VGNC:45701
Others	RP9	NCBI