RP9 (RP9 pre-mRNA splicing factor)

Gene

• Entrez ID: 6100
• Gene name: RP9 pre-mRNA splicing factor
• Gene symbol: RP9
• Synonyms (NCBI Gene): PAP-1, PAP1
• Chromosome: 7
• Chromosome location: 7p14.3
• 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-i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894039	T>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2093809	hsa-miR-1321	CLIP-seq
MIRT2093810	hsa-miR-150	CLIP-seq
MIRT2093811	hsa-miR-214	CLIP-seq
MIRT2093812	hsa-miR-2964a-5p	CLIP-seq
MIRT2093813	hsa-miR-3607-5p	CLIP-seq
MIRT2093814	hsa-miR-3616-3p	CLIP-seq
MIRT2093815	hsa-miR-3619-5p	CLIP-seq
MIRT2093816	hsa-miR-3649	CLIP-seq
MIRT2093817	hsa-miR-3919	CLIP-seq
MIRT2093818	hsa-miR-4270	CLIP-seq
MIRT2093819	hsa-miR-4318	CLIP-seq
MIRT2093820	hsa-miR-4441	CLIP-seq
MIRT2093821	hsa-miR-4501	CLIP-seq
MIRT2093822	hsa-miR-4530	CLIP-seq
MIRT2093823	hsa-miR-4713-5p	CLIP-seq
MIRT2093824	hsa-miR-4739	CLIP-seq
MIRT2093825	hsa-miR-4756-3p	CLIP-seq
MIRT2093826	hsa-miR-4756-5p	CLIP-seq
MIRT2093827	hsa-miR-4796-5p	CLIP-seq
MIRT2093828	hsa-miR-492	CLIP-seq
MIRT2093829	hsa-miR-532-3p	CLIP-seq
MIRT2093830	hsa-miR-634	CLIP-seq
MIRT2093831	hsa-miR-761	CLIP-seq
MIRT2318253	hsa-miR-1253	CLIP-seq
MIRT2318254	hsa-miR-1343	CLIP-seq
MIRT2318255	hsa-miR-1976	CLIP-seq
MIRT2318256	hsa-miR-29a	CLIP-seq
MIRT2318257	hsa-miR-29b	CLIP-seq
MIRT2318258	hsa-miR-29c	CLIP-seq
MIRT2318259	hsa-miR-3202	CLIP-seq
MIRT2093817	hsa-miR-3919	CLIP-seq
MIRT2318260	hsa-miR-4293	CLIP-seq
MIRT2318261	hsa-miR-4420	CLIP-seq
MIRT2318262	hsa-miR-4428	CLIP-seq
MIRT2318263	hsa-miR-4432	CLIP-seq
MIRT2318264	hsa-miR-4469	CLIP-seq
MIRT2318265	hsa-miR-4533	CLIP-seq
MIRT2318266	hsa-miR-508-5p	CLIP-seq
MIRT2318267	hsa-miR-615-5p	CLIP-seq
MIRT2318268	hsa-miR-619	CLIP-seq
MIRT2318269	hsa-miR-642a	CLIP-seq
MIRT2318270	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	15652350, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005785	Component	Signal recognition particle receptor complex	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	TAS	15652350
GO:0046872	Function	Metal ion binding	IEA
GO:0050890	Process	Cognition	IMP	23227193

Other IDs

• MIM: 607331
• HGNC: 10288
• e!Ensembl: ENSG00000164610

Protein

• UniProt ID: Q8TA86
• Protein name: Retinitis pigmentosa 9 protein (Pim-1-associated protein) (PAP-1)
• Protein function: Is thought to be a target protein for the PIM1 kinase. May play some roles in B-cell proliferation in association with PIM1 (By similarity).
• Tissue specificity: TISSUE SPECIFICITY: Appears to be expressed in a wide range of tissues.
• Sequence:

  MSSRPGREDVGAAGARRPREPPEQELQRRREQKRRRHDAQQLQQLKHLESFYEKPPPGLI
  KEDETKPEDCIPDVPGNEHAREFLAHAPTKGLWMPLGKEVKVMQCWRCKRYGHRTGDKEC
  PFFIKGNQKLEQFRVAHEDPMYDIIRDNKRHEKDVRIQQLKQLLEDSTSDEDRSSSSSSE
  GKEKHKKKKKKEKHKKRKKEKKKKKKRKHKSSKSNEGSDSE

• Sequence length: 221

Pathways

KEGG:

Spliceosome

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Associated diseases

Unknown
Disease merge term	Disease name	Evidence	References	Source
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar
Retinitis Pigmentosa	retinitis pigmentosa 9, retinitis pigmentosa, Retinitis Pigmentosa, Dominant	N/A	N/A	ClinVar, GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Retinitis Pigmentosa	Associate	16799052, 21347327, 23559859, 8808602