• Gene id: 6100

Gene Summary

• Gene Symbol: RP9   Gene   UCSC   Ensembl
• Aliases: PAP-1, PAP1
• Gene name: RP9 pre-mRNA splicing factor
• Alternate names: retinitis pigmentosa 9 protein, Pim-1 kinase associated protein, pim-1-associated protein, retinitis pigmentosa 9 (autosomal dominant),
• Gene location: 7p14.3 (33109403: 33094796)     Exons: 7     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 607331

SNPs

rs2976084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.75456899G>A
NC_000003.12   g.75456899G>T
NC_000003.11   g.75506050G>A
NC_000003.11   g.75506050G>T
NG_025593.1   g.34405C>T
NG_025593.1   g.34405C>A
NR_151706.1   n.721G>A
NR_151706.1   n.721G>T|SEQ=[G/A/T]|GENE=LINC02018

Protein Summary

• Protein general information: Q8TA86  
  • Name: Retinitis pigmentosa 9 protein (Pim 1 associated protein) (PAP 1)
  • Length: 221  
  • Mass: 26107
  • Tissue specificity: Appears to be expressed in a wide range of tissues.
• Sequence:

  MSSRPGREDVGAAGARRPREPPEQELQRRREQKRRRHDAQQLQQLKHLESFYEKPPPGLIKEDETKPEDCIPDVP
  GNEHAREFLAHAPTKGLWMPLGKEVKVMQCWRCKRYGHRTGDKECPFFIKGNQKLEQFRVAHEDPMYDIIRDNKR
  HEKDVRIQQLKQLLEDSTSDEDRSSSSSSEGKEKHKKKKKKEKHKKRKKEKKKKKKRKHKSSKSNEGSDSE

• Structural information:
  • Interpro: IPR034585  
  • STRING: ENSP00000297157
• Other Databases: GeneCards:  RP9  Malacards:  RP9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008380	RNA splicing	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005785	signal recognition particle receptor complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0050890	cognition	IMP	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0008380	RNA splicing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)