Seroatlas · Human Serome Atlas

RP9

Retinitis pigmentosa 9 protein

Also known as: PAP-1, RP9_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8TA86
Gene: RP9
Ensembl: ENSG00000164610
Chromosome: 7
Canonical length: 221 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

221 residues, UniProt reviewed canonical sequence.

>Q8TA86|RP9
     1  MSSRPGREDV GAAGARRPRE PPEQELQRRR EQKRRRHDAQ QLQQLKHLES FYEKPPPGLI
    61  KEDETKPEDC IPDVPGNEHA REFLAHAPTK GLWMPLGKEV KVMQCWRCKR YGHRTGDKEC
   121  PFFIKGNQKL EQFRVAHEDP MYDIIRDNKR HEKDVRIQQL KQLLEDSTSD EDRSSSSSSE
   181  GKEKHKKKKK KEKHKKRKKE KKKKKKRKHK SSKSNEGSDS E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RP9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.53
Highest tissue expression: 34 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 34 nTPM
tongue: 32 nTPM
heart muscle: 27 nTPM
choroid plexus: 24 nTPM
pancreas: 18 nTPM
cerebellum: 18 nTPM

Single-cell type

differentiating spermatogonia: 68 nCPM
oocytes: 60 nCPM
gastric progenitor cells: 50 nCPM
early primary spermatocytes: 45 nCPM
undifferentiated spermatogonia: 40 nCPM
b-cells: 37 nCPM

Immune cell

naive B-cell: 79 nTPM
memory B-cell: 61 nTPM
plasmacytoid DC: 28 nTPM
basophil: 23 nTPM
eosinophil: 22 nTPM
naive CD4 T-cell: 19 nTPM

Brain region

cerebellum: 12 nTPM
white matter: 10 nTPM
thalamus: 9.7 nTPM
medulla oblongata: 9.3 nTPM
pons: 9.3 nTPM
cerebral cortex: 9.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RP9.

Disease | AllUniProt

Conditions RP9 is implicated in, by any mechanism.

Retinitis pigmentosa 9 (RP9) MIM:180104

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 176 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Retinitis pigmentosa 9

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.8
gnomAD pLI: 0.02
gnomAD missense Z: 0.69
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Retinitis pigmentosa 9 protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RP9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

INO80B
CIRSR
PIM1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RP9 as an antibody target. Whether an autoantibody or antibody against RP9 could matter depends on whether native RP9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RP9 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RP9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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