Retinitis pigmentosa 9 protein

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• metal ion binding Source: UniProtKB-KW
• RNA binding Source: UniProtKBInferred from high throughput direct assayⁱ
  • "The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts."
    Baltz A.G., Munschauer M., Schwanhausser B., Vasile A., Murakawa Y., Schueler M., Youngs N., Penfold-Brown D., Drew K., Milek M., Wyler E., Bonneau R., Selbach M., Dieterich C., Landthaler M.
    Mol. Cell 46:674-690(2012) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• cognition Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals."
    Swaminathan S., Huentelman M.J., Corneveaux J.J., Myers A.J., Faber K.M., Foroud T., Mayeux R., Shen L., Kim S., Turk M., Hardy J., Reiman E.M., Saykin A.J., Weiner M., Aisen P., Weiner M., Aisen P., Petersen R.

    , Jack C.R. Jr., Jagust W., Trojanowki J.Q., Toga A.W., Beckett L., Green R.C., Saykin A.J., Morris J., Liu E., Green R.C., Montine T., Petersen R., Aisen P., Gamst A., Thomas R.G., Donohue M., Walter S., Gessert D., Sather T., Beckett L., Harvey D., Gamst A., Donohue M., Kornak J., Jack C.R. Jr., Dale A., Bernstein M., Felmlee J., Fox N., Thompson P., Schuff N., Alexander G., DeCarli C., Jagust W., Bandy D., Koeppe R.A., Foster N., Reiman E.M., Chen K., Mathis C., Morris J., Cairns N.J., Taylor-Reinwald L., Trojanowki J.Q., Shaw L., Lee V.M., Korecka M., Toga A.W., Crawford K., Neu S., Saykin A.J., Foroud T.M., Potkin S., Shen L., Kachaturian Z., Frank R., Snyder P.J., Molchan S., Kaye J., Quinn J., Lind B., Dolen S., Schneider L.S., Pawluczyk S., Spann B.M., Brewer J., Vanderswag H., Heidebrink J.L., Lord J.L., Petersen R., Johnson K., Doody R.S., Villanueva-Meyer J., Chowdhury M., Stern Y., Honig L.S., Bell K.L., Morris J.C., Ances B., Carroll M., Leon S., Mintun M.A., Schneider S., Marson D., Griffith R., Clark D., Grossman H., Mitsis E., Romirowsky A., deToledo-Morrell L., Shah R.C., Duara R., Varon D., Roberts P., Albert M., Onyike C., Kielb S., Rusinek H., de Leon M.J., Glodzik L., De Santi S., Doraiswamy P., Petrella J.R., Coleman R., Arnold S.E., Karlawish J.H., Wolk D., Smith C.D., Jicha G., Hardy P., Lopez O.L., Oakley M., Simpson D.M., Porsteinsson A.P., Goldstein B.S., Martin K., Makino K.M., Ismail M., Brand C., Mulnard R.A., Thai G., Mc-Adams-Ortiz C., Womack K., Mathews D., Quiceno M., Diaz-Arrastia R., King R., Weiner M., Martin-Cook K., DeVous M., Levey A.I., Lah J.J., Cellar J.S., Burns J.M., Anderson H.S., Swerdlow R.H., Apostolova L., Lu P.H., Bartzokis G., Silverman D.H., Graff-Radford N.R., Parfitt F., Johnson H., Farlow M.R., Hake A.M., Matthews B.R., Herring S., van Dyck C.H., Carson R.E., MacAvoy M.G., Chertkow H., Bergman H., Hosein C., Black S., Stefanovic B., Caldwell C., Hsiung G.Y., Feldman H., Mudge B., Assaly M., Kertesz A., Rogers J., Trost D., Bernick C., Munic D., Kerwin D., Mesulam M.M., Lipowski K., Wu C.K., Johnson N., Sadowsky C., Martinez W., Villena T., Turner R.S., Johnson K., Reynolds B., Sperling R.A., Johnson K.A., Marshall G., Frey M., Yesavage J., Taylor J.L., Lane B., Rosen A., Tinklenberg J., Sabbagh M., Belden C., Jacobson S., Kowall N., Killiany R., Budson A.E., Norbash A., Johnson P.L., Obisesan T.O., Wolday S., Bwayo S.K., Lerner A., Hudson L., Ogrocki P., Fletcher E., Carmichael O., Olichney J., DeCarli C., Kittur S., Borrie M., Lee T.Y., Bartha R., Johnson S., Asthana S., Carlsson C.M., Potkin S.G., Preda A., Nguyen D., Tariot P., Fleisher A., Reeder S., Bates V., Capote H., Rainka M., Scharre D.W., Kataki M., Zimmerman E.A., Celmins D., Brown A.D., Pearlson G.D., Blank K., Anderson K., Saykin A.J., Santulli R.B., Schwartz E.S., Sink K.M., Williamson J.D., Garg P., Watkins F., Ott B.R., Querfurth H., Tremont G., Salloway S., Malloy P., Correia S., Rosen H.J., Miller B.L., Mintzer J., Spicer K., Rachinsky I., Rogers J., Kertesz A., Drost D., Mayeux R., Foroud T., Lee J.H., Wijsman E.M., Green R., Kowall N., Farrer L., Schmechel D.E., Blacker D., Growdon J., Hyman B.T., Tanzi R.E., Boeve B., Graff-Radford N., Pericak-Vance M., Silverman J.M., Beeri M.S., Sano M., Johnson N., Mesulam M., Weintraub S., Bigio E., Kaye J., Kramer P., Bennett D.A., Harrell L.E., Bartzokis G., Geffen D., Markesbery W., Smith C., Trojanowski J.Q., Van Deerlin V., DeKosky S.T., Sweet R., Chui I., Varpetian A., Diaz-Arrastia R., Rosenberg R., Bird T., Raskind M., Schellenberg G.D., Goate A., Morris J., Morrison-Bogorad M., Miller M.
    PLoS ONE 7:e50640-e50640(2012) [PubMed] [Europe PMC] [Abstract]
• RNA splicing Source: UniProtKB <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ
  • "CIR, a corepressor of CBF1, binds to PAP-1 and effects alternative splicing."
    Maita H., Kitaura H., Ariga H., Iguchi-Ariga S.M.M.
    Exp. Cell Res. 303:375-387(2005) [PubMed] [Europe PMC] [Abstract]

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Keywords - Diseaseⁱ

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Amino acid modifications

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Region

Compositional bias

Zinc finger

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

        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                                

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityⁱ

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

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