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RP1 Gene

protein-coding   GIFtS: 47
GCID: GC08P055539

Retinitis Pigmentosa 1 (Autosomal Dominant)

  See RP1-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pigmentosa, and retinitis. GO annotations related to this gene include microtubule 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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 Chromatin IP Primers for RP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)

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

Explore proteomics data for RP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006260.1  
    ENSEMBL proteins: 
     ENSP00000220676  

    RP1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for RP1

     
    Search eBioscience for Proteins for RP1 

     
    antibodies-online proteins for RP1 (4 products) 

     
    antibodies-online peptides for RP1

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    antibodies-online antibodies for RP1 (22 products) 

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    antibodies-online kits for RP1 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with RP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008017microtubule binding ISS--
         
    Find genes that share ontologies with RP1           About GenesLikeMe


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

    Find genes that share phenotypes with RP1           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for RP1

    miRNA
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    miRTarBase miRNAs that target RP1:
    hsa-mir-335-5p (MIRT018673)

    Block miRNA regulation of human, mouse, rat RP1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate RP1:
    hsa-miR-3185 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidRP1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RP1
    Predesigned siRNA for gene silencing in human, mouse, rat RP1

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RP1_HUMAN, P56715: Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Cell projection, cilium,
    photoreceptor outer segment. Note=Specifically localized in the connecting cilia of rod and cone photoreceptors
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol3
    nucleus3

    Gene Ontology (GO): Selected cellular component terms (see all 7):    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 ----

    Find genes that share ontologies with RP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RP1
    Interactions:

        GeneGlobe Interaction Network for RP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RP1 (P567153 ENSP000002206764) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    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): Selected biological process terms (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--

    Find genes that share ontologies with RP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RP1 gene: 
    NM_006269.1  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000220676(uc003xsd.1 uc011ldy.1)
    miRNA
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    Block miRNA regulation of human, mouse, rat RP1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate RP1:
    hsa-miR-3185 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidRP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RP1
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    GenScript: all cDNA clones in your preferred vector: RP1 (NM_001618)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RP1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for RP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RP1
      QuantiTect SYBR Green Assays in human, mouse, rat RP1
      QuantiFast Probe-based Assays in human, mouse, rat RP1

    Selected AceView cDNA sequences (see all 33):

    AL712847 BX115012 BU729244 BM703017 BM661861 BM711615 BM665526 AF146592 
    AF143222 BX279907 NM_006269 AF141021 BU730175 BQ639345 BX953536 BG217362 
    BM452976 BM689793 BX490961 BU628383 AK098176 AL713028 BM693046 AL712952 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RP1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             Retina
             Photoreceptor-like cells
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     NULL (Sensory Organs)
             Photoreceptor-like cells
    RP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RP1 Protein Expression

    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

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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RP1 gene from Selected species (see all 9)    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 75.35(n)1
    62.74(a)1
      1 (1.65 cM)5
    198881  NM_011283.21  NP_035413.11 
     43435075 
    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) ENSDARG00000077687
    Zv9_NA625(17617-31182) ENSDARG00000086360
    worm
    (Caenorhabditis elegans)
    Secernentea F27C1.136
    Protein F27C1.13 (F27C1.13) mRNA, complete cds
    27(a)
    1 → many
    I(5443878-5446855) WBGene00017860


    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)
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    Paralogs for RP1 gene
    RP1L12  

    Find genes that share paralogs with RP1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    RP1_HUMAN, P56715: Tyr-985 is associated with susceptibility to hypertriglyceridemia [MIM:145750] in the homozygous
    state


    Selected SNPs for RP1 (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
    ----------
    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
    rs1378874151,2,,4
    CRetinitis pigmentosa 1 (RP1)4 --55640658(+) TGAGAC/ACTCCT 2 /N /T mis11Minor allele frequency- A:0.00NA 4192
    VAR_0644684
    Retinitis pigmentosa 1 (RP1)4--see VAR_0644682 A T mis40--------
    VAR_0641824
    Retinitis pigmentosa 1 (RP1)4--see VAR_0641822 D E 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--------
    rs1048940821,2
    Cpathogenic155636349(+) AATCTC/TGACAG 2 R * stg10--------
    rs1048940831,2
    Cpathogenic155636355(+) GACAGC/TAAGCA 2 Q * stg10--------
    rs283995311,2,,4
    C,Funtested155636575(+) TTCCAC/TGATTT 2 T M mis1 ese35Minor allele frequency- T:0.01CSA WA NA 4182

    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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    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

  • 7 diseases for RP1:    
    About MalaCards
    retinitis pigmentosa    retinitis    rp1-related retinitis pigmentosa    hereditary nephrotic syndromes
    cutaneous mucoepidermoid carcinoma    hypertriglyceridemia    leber congenital amaurosis


    Find genes that share disorders with RP1           About GenesLikeMe

    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)
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    PubMed articles for RP1 gene, integrated from 10 sources (see all 59):
    (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. (J. Hum. Genet. 2003)
    2. Differential pattern of RP1 mutations in retinitis pigmentosa. (PubMed id 20664799)1, 2, 4 Zhang X.... Pang C.P. (Mol. Vis. 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. (Invest. Ophthalmol. Vis. Sci. 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. (amp 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. (Hum. Mol. Genet. 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. (Hum. Mutat. 2012)
    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. (Ophthalmology 2011)
    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. (Mol. Vis. 2008)
    9. Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa. (PubMed id 18347624)1, 4 Sheng X....Rong W. (Can. J. Ophthalmol. 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. (Zhonghua Yi Xue Za Zhi 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6101 HGNC: 10263 AceView: RP1 Ensembl:ENSG00000104237 euGenes: HUgn6101
    ECgene: RP1 H-InvDB: RP1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=RP1[genesymbol]

    (Patent information from GeneIP,
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    Patent Information for RP1 gene:
    Search GeneIP for patents involving RP1

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