Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RP1 Gene

protein-coding   GIFtS: 48
GCID: GC08P055539

Retinitis Pigmentosa 1 (Autosomal Dominant)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Retinitis Pigmentosa 1 (Autosomal Dominant)1 2     DCDC4A2
Retinitis Pigmentosa 1 Protein2 3     Oxygen-Regulated Protein 12
Retinitis Pigmentosa RP1 Protein2 3     O5
ORP12 3     

External Ids:    HGNC: 102631   Entrez Gene: 61012   Ensembl: ENSG000001042377   OMIM: 6039375   UniProtKB: P567153   

Export aliases for RP1 gene to outside databases

Previous GC identifers: GC08P054800 GC08P055467 GC08P055251 GC08P055578 GC08P055691 GC08P050996


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RP1 Gene:
This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin
domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor
microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the
RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting
photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo
retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was
subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause
autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis
pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found,
which overlap the current reference sequence and has several exons upstream and downstream of the current
reference sequence. However, the biological validity and full-length nature of some variants cannot be determined
at this time.(provided by RefSeq, Sep 2010)

GeneCards Summary for RP1 Gene: 
RP1 (retinitis pigmentosa 1 (autosomal dominant)) is a protein-coding gene. Diseases associated with RP1 include retinitis, and retinitis pigmentosa. GO annotations related to this gene include microtubule binding and protein binding. An important paralog of this gene is RP1L1.

UniProtKB/Swiss-Prot: RP1_HUMAN, P56715
Function: Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of
photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of
the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of
outer segment disks along the photoreceptor axoneme (By similarity)

Gene Wiki entry for RP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008183.19  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RP1 gene promoter:
         AML1a   POU2F1   GATA-3   POU2F1a   CUTL1   LCR-F1   GATA-1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q12.1   Ensembl cytogenetic band:  8q12.1   HGNC cytogenetic band: 8q12.1

RP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RP1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P055539:  view genomic region     (about GC identifiers)

Start:
55,528,627 bp from pter      End:
55,543,394 bp from pter
Size:
14,768 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RP1_HUMAN, P56715 (See protein sequence)
Recommended Name: Oxygen-regulated protein 1  
Size: 2156 amino acids; 240661 Da
Subunit: Interacts (via the doublecortin domains) with microtubules. Interacts with RP1L1 (By similarity).
Interacts with MAK (By similarity)
Subcellular location: Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Cell projection, cilium,
photoreceptor outer segment. Note=Specifically localized in the connecting cilia of rod and cone photoreceptors

Explore the universe of human proteins at neXtProt for RP1: NX_P56715

Explore proteomics data for RP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P56715

  • RP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RP1 Protein Expression
    REFSEQ proteins: NP_006260.1  
    ENSEMBL proteins: 
     ENSP00000220676  

    Human Recombinant Protein Products for RP1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for RP1
    GenScript Custom Purified and Recombinant Proteins Services for RP1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RP1 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ISS--
    GO:0001917photoreceptor inner segment IDA11773008
    GO:0005874microtubule IEA--
    GO:0005875microtubule associated complex ISS--
    GO:0005929cilium ----

    RP1 for ontologies           About GeneDecksing



    RP1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for RP1
    GenScript Superior Antibodies for RP1
    Novus Biologicals RP1 Antibodies
    Search for Antibodies for RP1 at Abcam
    Cloud-Clone Corp. Antibodies for RP1 
    Search ThermoFisher Antibodies for RP1
    Search LSBio for Antibodies for RP1 

    Assay Products for RP1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RP1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RP1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RP1 
    Cloud-Clone Corp. CLIAs for RP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR003533 Doublecortin_dom

    Graphical View of Domain Structure for InterPro Entry P56715

    ProtoNet protein and cluster: P56715

    1 Blocks protein domain: IPB003533 Doublecortin

    UniProtKB/Swiss-Prot: RP1_HUMAN, P56715
    Domain: The doublecortin domains, which mediate interaction with microtubules, are required for regulation of
    microtubule polymerization and function in photoreceptor differentiation (By similarity)
    Similarity: Contains 2 doublecortin domains


    RP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RP1_HUMAN, P56715
    Function: Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of
    photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of
    the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of
    outer segment disks along the photoreceptor axoneme (By similarity)

         Genatlas biochemistry entry for RP1:
    retina specific gene,mutated in RP1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008017microtubule binding ISS--
         
    RP1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Rp1):
     cardiovascular system  nervous system  vision/eye 

    RP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RP1: Rp1tm1Eap Rp1tm1Jnz

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RP1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RP1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RP1
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate RP1:
    hsa-miR-3185 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidRP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RP1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RP1
    Sirion Biotech Customized adenovirus for overexpression of RP1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for RP1 (see all 5)
    OriGene ORF clones in mouse, rat for RP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RP1 (NM_001618)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RP1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RP1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RP1
    Search LifeMap BioReagents cell lines for RP1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RP1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for RP1 (P567153 ENSP000002206764) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APCP250543, ENSP000002574304I2D: score=1 STRING: ENSP00000257430
    POLR2GENSP000003017884STRING: ENSP00000301788
    SF3B4ENSP000002716284STRING: ENSP00000271628
    SLC29A1ENSP000003607734STRING: ENSP00000360773
    SP3ENSP000003103014STRING: ENSP00000310301
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light TAS10391211
    GO:0035082axoneme assembly ISS--
    GO:0035556intracellular signal transduction IEA--
    GO:0035845photoreceptor cell outer segment organization ISS--

    RP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RP1

    Search CenterWatch for drugs/clinical trials and news about RP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RP1 gene: 
    NM_006269.1  

    Unigene Cluster for RP1:

    Retinitis pigmentosa 1 (autosomal dominant)
    Hs.732820  [show with all ESTs]
    Unigene Representative Sequence: NM_006269
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000220676(uc003xsd.1 uc011ldy.1)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RP1
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate RP1:
    hsa-miR-3185 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidRP1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RP1
    Clone
    Products:
         
    OriGene clones in human, mouse for RP1 (see all 5)
    OriGene ORF clones in mouse, rat for RP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RP1 (NM_001618)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RP1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RP1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for RP1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RP1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RP1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RP1

    Additional mRNA sequence: 

    AF141021.1 AF143222.1 AF146592.1 AK302348.1 DQ980612.1 DQ980613.1 DQ980614.1 DQ980615.1 

    3 DOTS entries:

    DT.40279069  DT.120639557  DT.99935639 

    24/33 AceView cDNA sequences (see all 33):

    BX115012 BM661861 BU729244 AL712847 AF143222 BM703017 BX279907 AF141021 
    BM665526 BU730175 BQ639345 AF146592 NM_006269 BM711615 AK098176 AL712987 
    BM693046 AL712952 BM452976 BX953536 BX490961 AL713028 BU628383 BM689793 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RP1 expression in normal human tissues (normalized intensities)      RP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RP1 Expression
    About this image


    RP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Rod Cells Outer Nuclear Layer
             Retina
             retina   
     
     Lung (Respiratory System)
             trachea   
     
     Epithelium (Respiratory System)
             bronchial epithelial cells   

    See RP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RP1

    SOURCE GeneReport for Unigene cluster: Hs.732820

    UniProtKB/Swiss-Prot: RP1_HUMAN, P56715
    Tissue specificity: Expressed in retina. Not expressed in heart, brain, placenta, lung, liver, skeletal muscle,
    kidney, spleen and pancreas

        SABiosciences Custom PCR Arrays for RP1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for RP1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RP1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RP1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RP1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RP1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rp11 , 5 retinitis pigmentosa 1 (human)1, 5 75.32(n)1
    62.61(a)1
      1 (1.65 cM)5
    198881  NM_011283.21  NP_035413.11 
     43435075 
    chicken
    (Gallus gallus)
    Aves LOC4211231 oxygen-regulated protein 1-like 54.65(n)
    39.33(a)
      421123  XM_419205.3  XP_419205.3 
    zebrafish
    (Danio rerio)
    Actinopterygii rp16
    RP1 (2 of 2)6
    retinitis pigmentosa 1 (autosomal dominant)
    16(a)
    16(a)
    many → 1
    many → 1
    2(30441997-30448963)
    Zv9_NA625(17617-31182)
    worm
    (Caenorhabditis elegans)
    Secernentea F27C1.136
    Protein F27C1.13
    28(a)
    1 → many
    I(5443878-5446855)


    ENSEMBL Gene Tree for RP1 (if available)
    TreeFam Gene Tree for RP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RP1 gene
    RP1L12  

    RP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: RP1_HUMAN, P56715
    Polymorphism: Tyr-985 is associated with susceptibility to hypertriglyceridemia [MIM:145750] in the homozygous
    state


    10/575 SNPs in RP1 are shown (see all 575)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0644684
    Retinitis pigmentosa 1 (RP1)4--see VAR_0644682 A T mis40--------
    VAR_0644744
    Retinitis pigmentosa 1 (RP1)4--see VAR_0644742 L P mis40--------
    VAR_0641824
    Retinitis pigmentosa 1 (RP1)4--see VAR_0641822 D E mis40--------
    VAR_0644734
    Retinitis pigmentosa 1 (RP1)4--see VAR_0644732 R L mis40--------
    VAR_0644714
    Retinitis pigmentosa 1 (RP1)4--see VAR_0644712 D G mis40--------
    VAR_0669514
    Retinitis pigmentosa 1 (RP1)4--see VAR_0669512 K N mis40--------
    VAR_0644674
    Retinitis pigmentosa 1 (RP1)4--see VAR_0644672 K N mis40--------
    rs1807294241,2,4
    CRetinitis pigmentosa 1 (RP1)4 --55631923(+) TCTTCC/G/TGAGCA 3 P R L mis10--------
    rs777751261,2,4
    C,FRetinitis pigmentosa 1 (RP1)4 pathogenic155635438(+) AAGAAC/TAGAAA 2 T I mis13Minor allele frequency- T:0.01NA EU 5979
    rs1865948581,2,4
    CRetinitis pigmentosa 1 (RP1)4 --55638428(+) TTCAGA/GAAGAT 2 K E mis10--------

    HapMap Linkage Disequilibrium report for RP1 (55528627 - 55543394 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv6196CNV Loss18451855


    Human Gene Mutation Database (HGMD): RP1

    Locus Specific Mutation Databases (LSDB): RP1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RP1
    DNA2.0 Custom Variant and Variant Library Synthesis for RP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603937   
    OMIM disorders: 180100  145750  
    UniProtKB/Swiss-Prot: RP1_HUMAN, P56715
  • Retinitis pigmentosa 1 (RP1) [MIM:180100]: 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

  • 11 diseases for RP1:    About MalaCards
    retinitis    retinitis pigmentosa    hereditary nephrotic syndromes    rp1-related retinitis pigmentosa
    intracranial aneurysm    hypertriglyceridemia    retinal degeneration    nephrotic syndrome
    retinal disease    rhyns syndrome    blindness


    RP1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for RP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 1 97.3 5 15933747 (1), 12634863 (1), 12764676 (1), 12724644 (1)
    retinitis pigmentosa 87.7 24 15933747 (2), 12882812 (2), 15183808 (2), 16568030 (2) (see all 13)
    retinal degeneration 74.2 1 12724644 (1)
    retinitis 68.7 3 12634863 (1), 17896309 (1), 11527933 (1)
    blindness 50 2 16835924 (1), 12692530 (1)
    retinopathy 48.1 5 12634863 (1), 10484783 (1), 10845615 (1)

    Genatlas disease: RP1
    retinitis pigmentosa 1,autosomal dominant

    Genetic Association Database (GAD): RP1
    Human Genome Epidemiology (HuGE) Navigator: RP1 (27 documents)

    Export disorders for RP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RP1 gene, integrated from 9 sources (see all 57):
    (articles sorted by number of sources associating them with RP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene. (PubMed id 12764676)1, 2, 4, 9 Fujita Y....Saito Y. (2003)
    2. Differential pattern of RP1 mutations in retinitis pi gmentosa. (PubMed id 20664799)1, 2, 4 Zhang X....Pang C.P. (2010)
    3. Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. (PubMed id 11773008)1, 2, 9 Liu Q....Pierce E.A. (2002)
    4. De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. (PubMed id 12882812)1, 4, 9 Schwartz S.B....Stone E.M. (2003)
    5. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. (PubMed id 10401003)1, 2, 9 Guillonneau X.... Farber D.B. (1999)
    6. RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation. (PubMed id 22052604)1, 2 Audo I.... Zeitz C. (2011)
    7. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (2010)
    8. Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. (PubMed id 18552984)1, 4 Gandra M....Govindasamy K. (2008)
    9. Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa. (PubMed id 18347624)1, 4 Sheng X....Rong W. (2008)
    10. [Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong] (PubMed id 16185528)1, 4 Wang D.Y....Pang C.P. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6101 HGNC: 10263 AceView: RP1 Ensembl:ENSG00000104237 euGenes: HUgn6101
    ECgene: RP1 H-InvDB: RP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RP1 Pharmacogenomics, SNPs, Pathways
    RetNethttps://sph.uth.tmc.edu/retnet/
    Mutations of the RP1 genehttp://www.retina-international.org/files/sci-news/rp1mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RP1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RP1 gene:
    Search GeneIP for patents involving RP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for RP1  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for RP1  
     OriGene qSTAR qPCR primer pairs in human, mouse for RP1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for RP1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for RP1   OriGene Custom Protein Services for RP1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RP1
     QIAGEN SeqTarget long-range PCR primers for resequencing RP1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RP1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RP1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RP1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RP1
     GenScript Custom Purified and Recombinant Proteins Services for RP1 GenScript cDNA clones with any tag delivered in your preferred vector for RP1
     GenScript Custom Assay Services for RP1 GenScript Superior Antibodies for RP1
     GenScript Custom overexpressing Cell Line Services for RP1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in RP1 promoter
     Search Chromatin IP Primers for RP1
     RT2 qPCR Primer Assay in human, mouse, rat RP1
     GNC Network for RP1
     SABiosciences Custom PCR Arrays for RP1
     Search Tocris compounds for RP1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     RP1 antibodies
     Search for Antibodies for RP1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for RP1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for RP1
     Antibodies for RP1
     ELISAs for RP1
     CLIAs for RP1
     Search LifeMap BioReagents cell lines for RP1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RP1
     SwitchGear 3'UTR luciferase reporter plasmids for RP1
     SwitchGear Promoter luciferase reporter plasmids for RP1
     Search ThermoFisher Antibodies for RP1
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RP1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for RP1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RP1
    Customized:
     lentivirus for stable overexpression
     lentivirus expression plasmids for stable overexpression
     adenovirus for overexpression of RP1
     Search LSBio for Antibodies for RP1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      RP1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4