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Protein

Retinitis pigmentosa 9 protein

Gene

RP9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri104 – 122CCHC-typeAdd BLAST19

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • RNA binding Source: UniProtKB

GO - Biological processi

  • cognition Source: UniProtKB
  • RNA splicing Source: UniProtKB

Keywordsi

LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Retinitis pigmentosa 9 protein
Alternative name(s):
Pim-1-associated protein
Short name:
PAP-1
Gene namesi
Name:RP9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000164610.8.
HGNCiHGNC:10288. RP9.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 9 (RP9)1 Publication
The disease is caused by mutations 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.
See also OMIM:180104
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017252137H → L in RP9. 1 PublicationCorresponds to variant dbSNP:rs104894037Ensembl.1
Natural variantiVAR_017253170D → G in RP9. 1 PublicationCorresponds to variant dbSNP:rs104894039Ensembl.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi6100.
GeneReviewsiRP9.
MalaCardsiRP9.
MIMi180104. phenotype.
OpenTargetsiENSG00000164610.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA34650.

Polymorphism and mutation databases

BioMutaiRP9.
DMDMi38372427.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000974281 – 221Retinitis pigmentosa 9 proteinAdd BLAST221

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki129Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei212Phosphoserine; by PIM1By similarity1
Modified residuei214Phosphoserine; by PIM1By similarity1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ8TA86.
MaxQBiQ8TA86.
PaxDbiQ8TA86.
PeptideAtlasiQ8TA86.
PRIDEiQ8TA86.

PTM databases

iPTMnetiQ8TA86.
PhosphoSitePlusiQ8TA86.

Expressioni

Tissue specificityi

Appears to be expressed in a wide range of tissues.

Gene expression databases

BgeeiENSG00000164610.
CleanExiHS_RP9.
ExpressionAtlasiQ8TA86. baseline and differential.
GenevisibleiQ8TA86. HS.

Organism-specific databases

HPAiHPA031523.
HPA050778.

Interactioni

Subunit structurei

Binds to PIM1 (By similarity). Binds to ZNHIT4.By similarity

Protein-protein interaction databases

BioGridi112027. 8 interactors.
IntActiQ8TA86. 11 interactors.
STRINGi9606.ENSP00000297157.

Structurei

3D structure databases

ProteinModelPortaliQ8TA86.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 155PIM1-bindingBy similarityAdd BLAST155

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi174 – 179Poly-Ser6
Compositional biasi182 – 213Lys-richAdd BLAST32

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri104 – 122CCHC-typeAdd BLAST19

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410ITQW. Eukaryota.
ENOG4111TFK. LUCA.
GeneTreeiENSGT00510000047055.
HOGENOMiHOG000132948.
HOVERGENiHBG047374.
InParanoidiQ8TA86.
KOiK19604.
OMAiNKRHEKE.
OrthoDBiEOG091G0X0Z.
PhylomeDBiQ8TA86.
TreeFamiTF329160.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiView protein in InterPro
IPR032675. L_dom-like.
IPR034585. PAP-1.
PANTHERiPTHR35252. PTHR35252. 1 hit.

Sequencei

Sequence statusi: Complete.

Q8TA86-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:221
Mass (Da):26,107
Last modified:November 14, 2003 - v2
Checksum:i63774BDB40A63E4F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017252137H → L in RP9. 1 PublicationCorresponds to variant dbSNP:rs104894037Ensembl.1
Natural variantiVAR_017253170D → G in RP9. 1 PublicationCorresponds to variant dbSNP:rs104894039Ensembl.1
Natural variantiVAR_017254210K → R1 PublicationCorresponds to variant dbSNP:rs150987618Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AX016710 mRNA. No translation available.
BC025928 mRNA. Translation: AAH25928.2.
CCDSiCCDS5440.1.
RefSeqiNP_976033.1. NM_203288.1.
UniGeneiHs.326805.

Genome annotation databases

EnsembliENST00000297157; ENSP00000297157; ENSG00000164610.
GeneIDi6100.
KEGGihsa:6100.
UCSCiuc003tdm.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRP9_HUMAN
AccessioniPrimary (citable) accession number: Q8TA86
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 14, 2003
Last sequence update: November 14, 2003
Last modified: September 27, 2017
This is version 134 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot