UniProtKB - Q8TA86 (RP9_HUMAN)
Protein
Retinitis pigmentosa 9 protein
Gene
RP9
Organism
Homo sapiens (Human)
Status
Functioni
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).By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 104 – 122 | CCHC-typeAdd BLAST | 19 |
GO - Molecular functioni
- metal ion binding Source: UniProtKB-KW
- RNA binding Source: UniProtKB
GO - Biological processi
- cognition Source: UniProtKB
- RNA splicing Source: UniProtKB
Keywordsi
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q8TA86 |
Names & Taxonomyi
Protein namesi | Recommended name: Retinitis pigmentosa 9 proteinAlternative name(s): Pim-1-associated protein Short name: PAP-1 |
Gene namesi | Name:RP9 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10288, RP9 |
MIMi | 607331, gene |
neXtProti | NX_Q8TA86 |
VEuPathDBi | HostDB:ENSG00000164610.8 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Endoplasmic reticulum
- signal recognition particle receptor complex Source: Ensembl
Nucleus
- nucleus Source: UniProtKB-SubCell
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Retinitis pigmentosa 9 (RP9)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017252 | 137 | H → L in RP9. 1 PublicationCorresponds to variant dbSNP:rs104894037EnsemblClinVar. | 1 | |
Natural variantiVAR_017253 | 170 | D → G in RP9. 1 PublicationCorresponds to variant dbSNP:rs104894039EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 6100 |
GeneReviewsi | RP9 |
MalaCardsi | RP9 |
MIMi | 180104, phenotype |
OpenTargetsi | ENSG00000164610 |
Orphaneti | 791, Retinitis pigmentosa |
PharmGKBi | PA34650 |
Miscellaneous databases
Pharosi | Q8TA86, Tbio |
Genetic variation databases
BioMutai | RP9 |
DMDMi | 38372427 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000097428 | 1 – 221 | Retinitis pigmentosa 9 proteinAdd BLAST | 221 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 129 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 212 | Phosphoserine; by PIM1By similarity | 1 | |
Modified residuei | 214 | Phosphoserine; by PIM1By similarity | 1 |
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q8TA86 |
jPOSTi | Q8TA86 |
MassIVEi | Q8TA86 |
MaxQBi | Q8TA86 |
PaxDbi | Q8TA86 |
PeptideAtlasi | Q8TA86 |
PRIDEi | Q8TA86 |
ProteomicsDBi | 73839 |
PTM databases
iPTMneti | Q8TA86 |
PhosphoSitePlusi | Q8TA86 |
Expressioni
Tissue specificityi
Appears to be expressed in a wide range of tissues.
Gene expression databases
Bgeei | ENSG00000164610, Expressed in oocyte and 220 other tissues |
ExpressionAtlasi | Q8TA86, baseline and differential |
Genevisiblei | Q8TA86, HS |
Organism-specific databases
HPAi | ENSG00000164610, Low tissue specificity |
Interactioni
Subunit structurei
Binds to PIM1 (By similarity). Binds to ZNHIT4.
By similarityBinary interactionsi
Hide detailsQ8TA86
Protein-protein interaction databases
BioGRIDi | 112027, 22 interactors |
IntActi | Q8TA86, 17 interactors |
STRINGi | 9606.ENSP00000297157 |
Miscellaneous databases
RNActi | Q8TA86, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 155 | PIM1-bindingBy similarityAdd BLAST | 155 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 174 – 179 | Poly-Ser | 6 | |
Compositional biasi | 182 – 213 | Lys-richAdd BLAST | 32 |
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 104 – 122 | CCHC-typeAdd BLAST | 19 |
Keywords - Domaini
Zinc-fingerPhylogenomic databases
eggNOGi | KOG3794, Eukaryota |
GeneTreei | ENSGT00940000162896 |
InParanoidi | Q8TA86 |
OMAi | PGYIKEH |
OrthoDBi | 1479659at2759 |
PhylomeDBi | Q8TA86 |
TreeFami | TF329160 |
Family and domain databases
InterProi | View protein in InterPro IPR034585, PAP-1 |
PANTHERi | PTHR35252, PTHR35252, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q8TA86-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MSSRPGREDV GAAGARRPRE PPEQELQRRR EQKRRRHDAQ QLQQLKHLES
60 70 80 90 100
FYEKPPPGLI KEDETKPEDC IPDVPGNEHA REFLAHAPTK GLWMPLGKEV
110 120 130 140 150
KVMQCWRCKR YGHRTGDKEC PFFIKGNQKL EQFRVAHEDP MYDIIRDNKR
160 170 180 190 200
HEKDVRIQQL KQLLEDSTSD EDRSSSSSSE GKEKHKKKKK KEKHKKRKKE
210 220
KKKKKKRKHK SSKSNEGSDS E
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketC9J6V2 | C9J6V2_HUMAN | Retinitis pigmentosa 9 protein | RP9 | 166 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017252 | 137 | H → L in RP9. 1 PublicationCorresponds to variant dbSNP:rs104894037EnsemblClinVar. | 1 | |
Natural variantiVAR_017253 | 170 | D → G in RP9. 1 PublicationCorresponds to variant dbSNP:rs104894039EnsemblClinVar. | 1 | |
Natural variantiVAR_017254 | 210 | K → R1 PublicationCorresponds to variant dbSNP:rs150987618EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AX016710 mRNA No translation available. BC025928 mRNA Translation: AAH25928.2 |
CCDSi | CCDS5440.1 |
RefSeqi | NP_976033.1, NM_203288.1 |
Genome annotation databases
Ensembli | ENST00000297157; ENSP00000297157; ENSG00000164610 |
GeneIDi | 6100 |
KEGGi | hsa:6100 |
UCSCi | uc003tdm.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AX016710 mRNA No translation available. BC025928 mRNA Translation: AAH25928.2 |
CCDSi | CCDS5440.1 |
RefSeqi | NP_976033.1, NM_203288.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 112027, 22 interactors |
IntActi | Q8TA86, 17 interactors |
STRINGi | 9606.ENSP00000297157 |
PTM databases
iPTMneti | Q8TA86 |
PhosphoSitePlusi | Q8TA86 |
Genetic variation databases
BioMutai | RP9 |
DMDMi | 38372427 |
Proteomic databases
EPDi | Q8TA86 |
jPOSTi | Q8TA86 |
MassIVEi | Q8TA86 |
MaxQBi | Q8TA86 |
PaxDbi | Q8TA86 |
PeptideAtlasi | Q8TA86 |
PRIDEi | Q8TA86 |
ProteomicsDBi | 73839 |
Protocols and materials databases
Antibodypediai | 26407, 49 antibodies |
DNASUi | 6100 |
Genome annotation databases
Ensembli | ENST00000297157; ENSP00000297157; ENSG00000164610 |
GeneIDi | 6100 |
KEGGi | hsa:6100 |
UCSCi | uc003tdm.4, human |
Organism-specific databases
CTDi | 6100 |
DisGeNETi | 6100 |
GeneCardsi | RP9 |
GeneReviewsi | RP9 |
HGNCi | HGNC:10288, RP9 |
HPAi | ENSG00000164610, Low tissue specificity |
MalaCardsi | RP9 |
MIMi | 180104, phenotype 607331, gene |
neXtProti | NX_Q8TA86 |
OpenTargetsi | ENSG00000164610 |
Orphaneti | 791, Retinitis pigmentosa |
PharmGKBi | PA34650 |
VEuPathDBi | HostDB:ENSG00000164610.8 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3794, Eukaryota |
GeneTreei | ENSGT00940000162896 |
InParanoidi | Q8TA86 |
OMAi | PGYIKEH |
OrthoDBi | 1479659at2759 |
PhylomeDBi | Q8TA86 |
TreeFami | TF329160 |
Enzyme and pathway databases
PathwayCommonsi | Q8TA86 |
Miscellaneous databases
BioGRID-ORCSi | 6100, 8 hits in 879 CRISPR screens |
ChiTaRSi | RP9, human |
GeneWikii | RP9 |
GenomeRNAii | 6100 |
Pharosi | Q8TA86, Tbio |
PROi | PR:Q8TA86 |
RNActi | Q8TA86, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000164610, Expressed in oocyte and 220 other tissues |
ExpressionAtlasi | Q8TA86, baseline and differential |
Genevisiblei | Q8TA86, HS |
Family and domain databases
InterProi | View protein in InterPro IPR034585, PAP-1 |
PANTHERi | PTHR35252, PTHR35252, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RP9_HUMAN | |
Accessioni | Q8TA86Primary (citable) accession number: Q8TA86 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 14, 2003 |
Last sequence update: | November 14, 2003 | |
Last modified: | February 10, 2021 | |
This is version 153 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot