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RP9 RP9, pre-mRNA splicing factor [ Homo sapiens (human) ]

Gene ID: 6100, updated on 5-Aug-2018

Summary

Official Symbol
RP9provided by HGNC
Official Full Name
RP9, pre-mRNA splicing factorprovided by HGNC
Primary source
HGNC:HGNC:10288
See related
Ensembl:ENSG00000164610 MIM:607331; Vega:OTTHUMG00000152988
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAP1; PAP-1
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-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]
Expression
Ubiquitous expression in testis (RPKM 5.1), adrenal (RPKM 4.6) and 25 other tissues See more
Orthologs

Genomic context

See RP9 in Genome Data Viewer
Location:
7p14.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (33094797..33109390, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (33134409..33149002, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene 5'-nucleotidase, cytosolic IIIA Neighboring gene ribosomal protein S29 pseudogene 14 Neighboring gene RNA, 7SL, cytoplasmic 505, pseudogene Neighboring gene Bardet-Biedl syndrome 9 Neighboring gene RNA, 5S ribosomal pseudogene 229 Neighboring gene RAB3A interacting protein like 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Spliceosome, organism-specific biosystem (from KEGG)
    Spliceosome, organism-specific biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
  • Spliceosome, conserved biosystem (from KEGG)
    Spliceosome, conserved biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA splicing TAS
Traceable Author Statement
more info
PubMed 
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
signal recognition particle receptor complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
retinitis pigmentosa 9 protein
Names
Pim-1 kinase associated protein
pim-1-associated protein
retinitis pigmentosa 9 (autosomal dominant)

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012968.1 RefSeqGene

    Range
    5001..19594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_203288.1NP_976033.1  retinitis pigmentosa 9 protein

    See identical proteins and their annotated locations for NP_976033.1

    Status: REVIEWED

    Source sequence(s)
    BC025928
    Consensus CDS
    CCDS5440.1
    UniProtKB/Swiss-Prot
    Q8TA86
    UniProtKB/TrEMBL
    A0A090N8Z0
    Related
    ENSP00000297157.3, OTTHUMP00000202859, ENST00000297157.7, OTTHUMT00000328914

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    33094797..33109390 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515468.3XP_011513770.1  retinitis pigmentosa 9 protein isoform X1

    See identical proteins and their annotated locations for XP_011513770.1

    Related
    ENSP00000411577.1, OTTHUMP00000202860, ENST00000448915.1
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