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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6100
Gene name Gene Name - the full gene name approved by the HGNC.	RP9 pre-mRNA splicing factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RP9
Synonyms (NCBI Gene) Gene synonyms aliases	PAP-1, PAP1
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p14.3
Summary Summary of gene provided in NCBI Entrez Gene.	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	IBA	21873635
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

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).

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

Show/Hide Causal Diseases (12)

Disease term	Disease name	dbSNP ID	References
Causal
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hyperinsulinism	Hyperinsulinism	rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209 View all (23 more)
Keratoconus	Keratoconus	rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150, rs1553500862, rs756938019
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Retinitis pigmentosa	Retinitis Pigmentosa, RETINITIS PIGMENTOSA 9, Retinitis pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114 View all (1830 more)	12032732
Rod-cone dystrophy	Rod-Cone Dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Retinitis Pigmentosa	retinitis pigmentosa 9			GenCC

Show/Hide Text Mining Associations (1)

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

RP9 (RP9 pre-mRNA splicing factor)