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Q8TA86

- RP9_HUMAN

UniProt

Q8TA86 - RP9_HUMAN

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Protein

Retinitis pigmentosa 9 protein

Gene
RP9
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri104 – 12219CCHC-typeAdd
BLAST

GO - Molecular functioni

  1. poly(A) RNA binding Source: UniProtKB
  2. protein binding Source: UniProtKB
  3. zinc ion binding Source: InterPro

GO - Biological processi

  1. cognition Source: UniProt
  2. RNA splicing Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Metal-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
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:10288. RP9.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
  2. signal recognition particle receptor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371H → L in RP9. 1 Publication
VAR_017252
Natural varianti170 – 1701D → G in RP9. 1 Publication
VAR_017253

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi180104. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA34650.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 221221Retinitis pigmentosa 9 proteinPRO_0000097428Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei212 – 2121Phosphoserine; by PIM1 By similarity
Modified residuei214 – 2141Phosphoserine; by PIM1 By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8TA86.
PaxDbiQ8TA86.
PRIDEiQ8TA86.

PTM databases

PhosphoSiteiQ8TA86.

Expressioni

Tissue specificityi

Appears to be expressed in a wide range of tissues.

Gene expression databases

ArrayExpressiQ8TA86.
BgeeiQ8TA86.
CleanExiHS_RP9.
GenevestigatoriQ8TA86.

Organism-specific databases

HPAiHPA031523.

Interactioni

Subunit structurei

Binds to PIM1 By similarity. Binds to ZNHIT4.1 Publication

Protein-protein interaction databases

BioGridi112027. 4 interactions.
IntActiQ8TA86. 1 interaction.
STRINGi9606.ENSP00000297157.

Structurei

3D structure databases

ProteinModelPortaliQ8TA86.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 155155PIM1-binding By similarityAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi174 – 1796Poly-Ser
Compositional biasi182 – 21332Lys-richAdd
BLAST

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri104 – 12219CCHC-typeAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiNOG283926.
HOGENOMiHOG000132948.
HOVERGENiHBG047374.
InParanoidiQ8TA86.
OrthoDBiEOG72C52F.
PhylomeDBiQ8TA86.
TreeFamiTF329160.

Family and domain databases

InterProiIPR001878. Znf_CCHC.
[Graphical view]
SMARTiSM00343. ZnF_C2HC. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8TA86-1 [UniParc]FASTAAdd to Basket

« Hide

MSSRPGREDV GAAGARRPRE PPEQELQRRR EQKRRRHDAQ QLQQLKHLES    50
FYEKPPPGLI KEDETKPEDC IPDVPGNEHA REFLAHAPTK GLWMPLGKEV 100
KVMQCWRCKR YGHRTGDKEC PFFIKGNQKL EQFRVAHEDP MYDIIRDNKR 150
HEKDVRIQQL KQLLEDSTSD EDRSSSSSSE GKEKHKKKKK KEKHKKRKKE 200
KKKKKKRKHK SSKSNEGSDS E 221
Length:221
Mass (Da):26,107
Last modified:November 14, 2003 - v2
Checksum:i63774BDB40A63E4F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371H → L in RP9. 1 Publication
VAR_017252
Natural varianti170 – 1701D → G in RP9. 1 Publication
VAR_017253
Natural varianti210 – 2101K → R.1 Publication
Corresponds to variant rs150987618 [ dbSNP | Ensembl ].
VAR_017254

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human.

Polymorphism databases

DMDMi38372427.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AX016710 mRNA. No translation available.
BC025928 mRNA. Translation: AAH25928.2 .
CCDSi CCDS5440.1.
RefSeqi NP_976033.1. NM_203288.1.
UniGenei Hs.326805.

3D structure databases

ProteinModelPortali Q8TA86.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112027. 4 interactions.
IntActi Q8TA86. 1 interaction.
STRINGi 9606.ENSP00000297157.

PTM databases

PhosphoSitei Q8TA86.

Polymorphism databases

DMDMi 38372427.

Proteomic databases

MaxQBi Q8TA86.
PaxDbi Q8TA86.
PRIDEi Q8TA86.

Protocols and materials databases

DNASUi 6100.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000297157 ; ENSP00000297157 ; ENSG00000164610 .
GeneIDi 6100.
KEGGi hsa:6100.
UCSCi uc003tdm.3. human.

Organism-specific databases

CTDi 6100.
GeneCardsi GC07M033100.
GeneReviewsi RP9.
HGNCi HGNC:10288. RP9.
HPAi HPA031523.
MIMi 180104. phenotype.
607331. gene.
neXtProti NX_Q8TA86.
Orphaneti 791. Retinitis pigmentosa.
PharmGKBi PA34650.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG283926.
HOGENOMi HOG000132948.
HOVERGENi HBG047374.
InParanoidi Q8TA86.
OrthoDBi EOG72C52F.
PhylomeDBi Q8TA86.
TreeFami TF329160.

Miscellaneous databases

GeneWikii RP9.
GenomeRNAii 6100.
NextBioi 23729.
PROi Q8TA86.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8TA86.
Bgeei Q8TA86.
CleanExi HS_RP9.
Genevestigatori Q8TA86.

Family and domain databases

InterProi IPR001878. Znf_CCHC.
[Graphical view ]
SMARTi SM00343. ZnF_C2HC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Muscle.
  3. "A novel nucleolar protein, PAPA-1, induces growth arrest as a result of cell cycle arrest at the G1 phase."
    Kuroda T.S., Maita H., Tabata T., Taira T., Kitaura H., Ariga H., Iguchi-Ariga S.M.M.
    Gene 340:83-98(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ZNHIT4.
  4. "Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa."
    Keen T.J., Hims M.M., McKie A.B., Moore A.T., Doran R.M., Mackey D.A., Mansfield D.C., Mueller R.F., Bhattacharya S.S., Bird A.C., Markham A.F., Inglehearn C.F.
    Eur. J. Hum. Genet. 10:245-249(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP9 LEU-137 AND GLY-170, VARIANT ARG-210.

Entry informationi

Entry nameiRP9_HUMAN
AccessioniPrimary (citable) accession number: Q8TA86
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 14, 2003
Last sequence update: November 14, 2003
Last modified: July 9, 2014
This is version 106 of the entry and version 2 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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