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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Retinitis pigmentosa 9	Likely pathogenic	rs1010772189	RCV003991368

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Optic atrophy	Uncertain significance	rs146802517	RCV004817070
Retinal dystrophy	Benign; Likely benign; Uncertain significance	rs150987618, rs553265417, rs764812236, rs1788313547, rs558009860, rs2534907693, rs2128031844, rs2534913996, rs1788409332, rs1476601589, rs1487119683, rs1242766014	RCV004815233 RCV004816302 RCV003889272 RCV003891125 RCV003891126 RCV003891127 RCV003891128 RCV003891129 RCV003891131 RCV003891132 RCV003891133 RCV003891134
Retinitis pigmentosa	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs58377403, rs150987618, rs145025032, rs104894039, rs775870239, rs115938195, rs79133824, rs369792814, rs6462460, rs201702563, rs528976601, rs943352965, rs1788315155, rs575755283	RCV001162973 RCV000337887 RCV001162974 RCV001162972 RCV000334479 RCV000279291 RCV000332993 RCV000387435 RCV000373747 RCV001162970 RCV001161434 RCV001162969 RCV001162971 RCV001165053
Retinitis Pigmentosa, Dominant	Benign; Likely benign	rs553265417	RCV000292207
RP9-related disorder	Likely benign	rs576293321, rs1325951550	RCV003963941 RCV003957284

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