Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6100
Gene name	RP9 pre-mRNA splicing factor
Gene symbol	RP9
Synonyms (NCBI Gene)	PAP-1PAP1
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

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

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miRTarBase ID	miRNA	Experiments
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

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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

MIM	HGNC	e!Ensembl
607331	10288	ENSG00000164610

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).

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Appears to be expressed in a wide range of tissues.

Sequence

MSSRPGREDVGAAGARRPREPPEQELQRRREQKRRRHDAQQLQQLKHLESFYEKPPPGLI
KEDETKPEDCIPDVPGNEHAREFLAHAPTKGLWMPLGKEVKVMQCWRCKRYGHRTGDKEC
PFFIKGNQKLEQFRVAHEDPMYDIIRDNKRHEKDVRIQQLKQLLEDSTSDEDRSSSSSSE
GKEKHKKKKKKEKHKKRKKEKKKKKKRKHKSSKSNEGSDSE

Sequence length

221

Interactions

View interactions

	KEGG
	Spliceosome

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Retinitis pigmentosa 9	Likely pathogenic	rs1010772189	RCV003991368	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal dystrophy	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Dominant	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RP9-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma	Carcinoma	BEFREE	12959682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	8980181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31351364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19799857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19799857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19799857, 27344312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	17158099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10780521, 22496117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29034212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	12032732		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	16799052, 21347327, 23559859, 8808602	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	28216641		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 9	Retinitis Pigmentosa	UNIPROT_DG	12032732		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 9	Retinitis Pigmentosa	BEFREE	15474994, 18334927		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 9	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 9	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 9	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

RP9 (RP9 pre-mRNA splicing factor)