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Aliases for RP9 Gene

Aliases for RP9 Gene

  • Retinitis Pigmentosa 9 (Autosomal Dominant) 2 3
  • Pim-1 Kinase Associated Protein 2 3
  • Pim-1-Associated Protein 3 4
  • PAP-1 3 4
  • PAP1 3 6
  • Retinitis Pigmentosa 9 Protein 3

External Ids for RP9 Gene

Summaries for RP9 Gene

Entrez Gene Summary for RP9 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-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]

GeneCards Summary for RP9 Gene

RP9 (Retinitis Pigmentosa 9 (Autosomal Dominant)) is a Protein Coding gene. Diseases associated with RP9 include retinitis pigmentosa 9 and rp9-related retinitis pigmentosa. GO annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot for RP9 Gene

  • 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).

Gene Wiki entry for RP9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RP9 Gene

Genomics for RP9 Gene

Genomic Location for RP9 Gene

Start:
33,094,797 bp from pter
End:
33,109,401 bp from pter
Size:
14,605 bases
Orientation:
Minus strand

Genomic View for RP9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RP9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RP9 Gene

Regulatory Elements for RP9 Gene

Proteins for RP9 Gene

  • Protein details for RP9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TA86-RP9_HUMAN
    Recommended name:
    Retinitis pigmentosa 9 protein
    Protein Accession:
    Q8TA86
    Secondary Accessions:

    Protein attributes for RP9 Gene

    Size:
    221 amino acids
    Molecular mass:
    26107 Da
    Quaternary structure:
    • Binds to PIM1 (By similarity). Binds to ZNHIT4.

neXtProt entry for RP9 Gene

Proteomics data for RP9 Gene at MOPED

Post-translational modifications for RP9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RP9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RP9 Gene

Domains for RP9 Gene

Protein Domains for RP9 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

RP9_HUMAN
Similarity:
  • Contains 1 CCHC-type zinc finger.:
    • Q8TA86
genes like me logo Genes that share domains with RP9: view

No data available for Gene Families for RP9 Gene

Function for RP9 Gene

Molecular function for RP9 Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for RP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0005515 protein binding IPI 15652350
GO:0008270 zinc ion binding IEA --
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with RP9: view

Phenotypes for RP9 Gene

genes like me logo Genes that share phenotypes with RP9: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for RP9 Gene

Localization for RP9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RP9 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RP9 Gene COMPARTMENTS Subcellular localization image for RP9 gene
Compartment Confidence
nucleus 3
endoplasmic reticulum 2
cytosol 1

Gene Ontology (GO) - Cellular Components for RP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005785 signal recognition particle receptor complex IEA --
genes like me logo Genes that share ontologies with RP9: view

Pathways for RP9 Gene

SuperPathways for RP9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008380 RNA splicing TAS 15652350
GO:0050890 cognition IMP 23227193
genes like me logo Genes that share ontologies with RP9: view

No data available for Pathways by source for RP9 Gene

Compounds for RP9 Gene

(1) Novoseek inferred chemical compound relationships for RP9 Gene

Compound -log(P) Hits PubMed IDs
serine 39.9 1
genes like me logo Genes that share compounds with RP9: view

Transcripts for RP9 Gene

mRNA/cDNA for RP9 Gene

Unigene Clusters for RP9 Gene

Retinitis pigmentosa 9 (autosomal dominant):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RP9 Gene

No ASD Table

Relevant External Links for RP9 Gene

GeneLoc Exon Structure for
RP9
ECgene alternative splicing isoforms for
RP9

Expression for RP9 Gene

mRNA expression in normal human tissues for RP9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RP9 Gene

SOURCE GeneReport for Unigene cluster for RP9 Gene Hs.326805

mRNA Expression by UniProt/SwissProt for RP9 Gene

Q8TA86-RP9_HUMAN
Tissue specificity: Appears to be expressed in a wide range of tissues
genes like me logo Genes that share expressions with RP9: view

Orthologs for RP9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RP9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RP9 36
  • 99.25 (n)
  • 99.55 (a)
RP9 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RP9 36
  • 91.31 (n)
  • 93.94 (a)
RP9 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RP9 36
  • 92.57 (n)
  • 95.15 (a)
RP9 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rp9 36
  • 88.39 (n)
  • 95.48 (a)
Rp9 16
Rp9 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 88 (a)
OneToMany
-- 37
  • 92 (a)
OneToMany
-- 37
  • 84 (a)
OneToMany
-- 37
  • 88 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RP9 37
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rp9 36
  • 88.14 (n)
  • 93.96 (a)
chicken
(Gallus gallus)
Aves RP9 37
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RP9 37
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rp9 37
  • 64 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 55 (a)
OneToOne
Species with no ortholog for RP9:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RP9 Gene

ENSEMBL:
Gene Tree for RP9 (if available)
TreeFam:
Gene Tree for RP9 (if available)

Paralogs for RP9 Gene

Pseudogenes.org Pseudogenes for RP9 Gene

genes like me logo Genes that share paralogs with RP9: view

No data available for Paralogs for RP9 Gene

Variants for RP9 Gene

Sequence variations from dbSNP and Humsavar for RP9 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs3202896 -- 33,097,346(-) AAACG(C/G)TATGG reference, synonymous-codon
rs3750120 -- 33,109,099(+) GGGCC(C/G)AGCCC intron-variant
rs3750121 -- 33,109,100(+) GGCCC(A/G)GCCCC intron-variant
rs3833682 -- 33,109,442(+) gcggc(-/GGCGGCGGCGGC)AGCCA upstream-variant-2KB
rs3847007 -- 33,107,605(+) TCCCC(G/T)GCCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RP9 Gene

Variant ID Type Subtype PubMed ID
dgv1127e201 CNV Deletion 23290073
nsv436907 CNV Insertion 17901297
nsv830942 CNV Gain 17160897
nsv508450 CNV Loss 20534489
dgv808n27 CNV Gain 19166990
nsv520406 CNV Gain 19592680

Relevant External Links for RP9 Gene

HapMap Linkage Disequilibrium report
RP9
Human Gene Mutation Database (HGMD)
RP9

Disorders for RP9 Gene

(1) OMIM Diseases for RP9 Gene (607331)

UniProtKB/Swiss-Prot

RP9_HUMAN
  • Retinitis pigmentosa 9 (RP9) [MIM:180104]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:12032732}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for RP9 Gene

(1) Novoseek inferred disease relationships for RP9 Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 61.7 3

Relevant External Links for RP9

Genetic Association Database (GAD)
RP9
Human Genome Epidemiology (HuGE) Navigator
RP9
genes like me logo Genes that share disorders with RP9: view

Publications for RP9 Gene

  1. A novel nucleolar protein, PAPA-1, induces growth arrest as a result of cell cycle arrest at the G1 phase. (PMID: 15556297) Kuroda T.S. … Iguchi-Ariga S.M.M. (Gene 2004) 3 4 23
  2. CIR, a corepressor of CBF1, binds to PAP-1 and effects alternative splicing. (PMID: 15652350) Maita H. … Iguchi-Ariga S.M. (Exp. Cell Res. 2005) 3 23
  3. PAP-1, a novel target protein of phosphorylation by pim-1 kinase. (PMID: 10931201) Maita H. … Iguchi-Ariga S.M. (Eur. J. Biochem. 2000) 3 23
  4. PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. (PMID: 15474994) Maita H. … Iguchi-Ariga S.M. (Exp. Cell Res. 2004) 3 23
  5. A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. (PMID: 8513323) Inglehearn C.F. … Bird A.C. (Nat. Genet. 1993) 2 3

Products for RP9 Gene

Sources for RP9 Gene

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