RP9 - RP9 pre-mRNA splicing factor Gene

Homo sapiens

Also known as PAP1; PAP-1

Gene ID: 6100 | Gene type: protein coding

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

Protein Preferred Names

Protein Names

retinitis pigmentosa 9 protein

Pim-1 kinase associated protein

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12141	RP9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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