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Aliases for RP9 Gene

Aliases for RP9 Gene

  • Retinitis Pigmentosa 9 (Autosomal Dominant) 2 3 5
  • Pim-1 Kinase Associated Protein 2 3
  • Pim-1-Associated Protein 3 4
  • PAP-1 3 4
  • PAP1 3

External Ids for RP9 Gene

Previous GeneCards Identifiers for RP9 Gene

  • GC07U990086
  • GC07M032877
  • GC07M032907
  • GC07M033100
  • GC07M033013

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. Among its related pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include nucleic acid binding and poly(A) RNA 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

Regulatory Elements for RP9 Gene

Enhancers for RP9 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RP9 on UCSC Golden Path with GeneCards custom track

Promoters for RP9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RP9 on UCSC Golden Path with GeneCards custom track

Genomic Location for RP9 Gene

Chromosome:
7
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

Genes around RP9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RP9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RP9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

    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 & Families for RP9 Gene

Protein Domains for RP9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RP9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TA86

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for RP9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets 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 5
cytosol 3
endoplasmic reticulum 2

No data available for Gene Ontology (GO) - Cellular Components for RP9 Gene

Pathways & Interactions for RP9 Gene

SuperPathways for RP9 Gene

Superpath Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with RP9: view

Pathways by source for RP9 Gene

1 KEGG pathway for RP9 Gene

Gene Ontology (GO) - Biological Process for RP9 Gene

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

No data available for SIGNOR curated interactions for RP9 Gene

Drugs & Compounds for RP9 Gene

(1) Drugs for RP9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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

Protein differential expression in normal tissues from HIPED for RP9 Gene

This gene is overexpressed in Fetal testis (19.4), CD4 Tcells (14.8), Fetal Liver (13.2), CD8 Tcells (11.5), and Fetal heart (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with RP9: view

Protein tissue co-expression partners for RP9 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for RP9 Gene

Orthologs for RP9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RP9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RP9 35
  • 91.31 (n)
  • 93.94 (a)
RP9 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RP9 35
  • 92.57 (n)
  • 95.15 (a)
RP9 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rp9 35
  • 88.39 (n)
  • 95.48 (a)
Rp9 16
Rp9 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RP9 35
  • 99.25 (n)
  • 99.55 (a)
RP9 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rp9 35
  • 88.14 (n)
  • 93.96 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RP9 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves RP9 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RP9 36
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rp9 36
  • 64 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
VAR_017252 Retinitis pigmentosa 9 (RP9)
VAR_017253 Retinitis pigmentosa 9 (RP9)
rs150987618 - 33,095,271(+) AAGAT(C/T)TGTGC reference, missense
rs6947994 -- 33,098,348(+) cactg(C/T)actcc intron-variant
rs6948361 -- 33,098,687(+) CAAAT(A/G)ATCaa 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

Variation tolerance for RP9 Gene

Residual Variation Intolerance Score: 56.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.61; 82.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RP9 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RP9 Gene

Disorders for RP9 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RP9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 9
  • retinitis pigmentosa-9
rp9-related retinitis pigmentosa
  • retinitis pigmentosa 9
retinitis pigmentosa
  • retinitis pigmentosa 1
retinitis
- elite association - COSMIC cancer census association via MalaCards
Search RP9 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for RP9

Genetic Association Database (GAD)
RP9
Human Genome Epidemiology (HuGE) Navigator
RP9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RP9
genes like me logo Genes that share disorders with RP9: view

No data available for Genatlas for RP9 Gene

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 67
  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, 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
  4. 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
  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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