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Q8TA86

- RP9_HUMAN

UniProt

Q8TA86 - RP9_HUMAN

Protein

Retinitis pigmentosa 9 protein

Gene

RP9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 2 (14 Nov 2003)
      Previous versions | rss
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    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)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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 PIM1By similarity
    Modified residuei214 – 2141Phosphoserine; by PIM1By 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.By similarity

    Protein-protein interaction databases

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

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TA86.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

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

    Compositional bias

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

    Sequence similaritiesi

    Contains 1 CCHC-type zinc finger.Curated

    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

    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: October 1, 2014
    This is version 107 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