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RP1L1 Gene

protein-coding   GIFtS: 46
GCID: GC08M010501

Retinitis Pigmentosa 1-Like 1

  See RP1L1-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-Like 11 2
DCDC4B2
Retinitis Pigmentosa 1-Like 1 Protein2

External Ids:    HGNC: 159461   Entrez Gene: 941372   Ensembl: ENSG000001836387   OMIM: 6085815   UniProtKB: Q8IWN73   

Export aliases for RP1L1 gene to outside databases

Previous GC identifers: GC00U991063 GC08U900030 GC08M010335 GC08M009394


(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 RP1L1 Gene:
This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal
doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large
repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein
is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in
the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and
1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown
here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein,
play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod
photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). (provided by RefSeq, Sep 2010)

GeneCards Summary for RP1L1 Gene:
RP1L1 (retinitis pigmentosa 1-like 1) is a protein-coding gene. Diseases associated with RP1L1 include occult macular dystrophy, and macular dystrophy. An important paralog of this gene is RP1.

UniProtKB/Swiss-Prot: RP1L1_HUMAN, Q8IWN7
Function: Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer
segment of rod and cone photoreceptors (By similarity)




(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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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_077531.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the RP1L1 gene promoter:
         Tal-1   POU6F1 (c2)   NF-kappaB   Tal-1beta   Cdc5   E47   Ik-2   NF-kappaB2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRP1L1 promoter sequence
   Search Chromatin IP Primers for RP1L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RP1L1


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

Entrez Gene cytogenetic band: 8p23.1   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23.1

RP1L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RP1L1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M010501:  view genomic region     (about GC identifiers)

Start:
10,463,859 bp from pter      End:
10,569,697 bp from pter
Size:
105,839 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RP1L1_HUMAN, Q8IWN7 (See protein sequence)
Recommended Name: Retinitis pigmentosa 1-like 1 protein  
Size: 2480 amino acids; 261207 Da
Subunit: Interacts with RP1; has a synergistic effect with RP1 in photoreceptor differentiation (By similarity)
Secondary accessions: Q86SQ1 Q8IWN8 Q8IWN9 Q8IWP0 Q8IWP1 Q8IWP2
Alternative splicing: 2 isoforms:  Q8IWN7-1   Q8IWN7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RP1L1: NX_Q8IWN7

Explore proteomics data for RP1L1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RP1L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_849188.4  
    ENSEMBL proteins: 
     ENSP00000371923  

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    (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 Q8IWN7

    ProtoNet protein and cluster: Q8IWN7

    1 Blocks protein domain: IPB003533 Doublecortin

    UniProtKB/Swiss-Prot: RP1L1_HUMAN, Q8IWN7
    Domain: The C-terminal part contains a large repetitive region which contains an unusually high percentage of
    glutamine, glycine and above all glutamic acid residues
    Similarity: Contains 2 doublecortin domains


    Find genes that share domains with RP1L1           About GenesLikeMe


    (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,
    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: RP1L1_HUMAN, Q8IWN7
    Function: Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer
    segment of rod and cone photoreceptors (By similarity)

    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rp1l1):

     nervous system  vision/eye 

    Find genes that share phenotypes with RP1L1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rp1l1tm1Jnz for RP1L1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RP1L1
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    miRNA
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    miRTarBase miRNAs that target RP1L1:
    hsa-mir-335-5p (MIRT017889), hsa-mir-16-5p (MIRT051113)

    Block miRNA regulation of human, mouse, rat RP1L1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate RP1L1:
    hsa-miR-3678-3p hsa-miR-1184 hsa-miR-182 hsa-miR-520g hsa-miR-1205 hsa-miR-621
    SwitchGear 3'UTR luciferase reporter plasmidRP1L1 3' UTR sequence
    Inhib. RNA
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    (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
    RP1L1_HUMAN, Q8IWN7: Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium, photoreceptor outer
    segment (By similarity). Note=Localized to the axoneme of outer segments and connecting cilia in rod
    photoreceptors (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol2
    mitochondrion2
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ISS--
    GO:0005874microtubule IEA--
    GO:0005930axoneme ISS--
    GO:0032391photoreceptor connecting cilium ISS--

    Find genes that share ontologies with RP1L1           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 RP1L1
    Interactions:

        Search GeneGlobe Interaction Network for RP1L1

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

    5 Interacting proteins for RP1L1 (Q8IWN72, 3 ENSP000003719234) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL3P364052, 3, ENSP000002607464MINT-6602258 I2D: score=1 STRING: ENSP00000260746
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    NCK1P163333, ENSP000002889864I2D: score=1 STRING: ENSP00000288986
    KIAA1432ENSP000004022404STRING: ENSP00000402240
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    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception IEA--
    GO:0030030cell projection organization IEA--
    GO:0035556intracellular signal transduction IEA--
    GO:0042461photoreceptor cell development ISS--
    GO:0045494photoreceptor cell maintenance ISS--

    Find genes that share ontologies with RP1L1           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
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    Browse Tocris compounds for RP1L1



    (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 RP1L1 gene: 
    NM_178857.5  

    Unigene Cluster for RP1L1:

    Retinitis pigmentosa 1-like 1
    Hs.33538  [show with all ESTs]
    Unigene Representative Sequence: AY168346
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382483(uc003wtc.3) ENST00000329335
    miRNA
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    hsa-miR-3678-3p hsa-miR-1184 hsa-miR-182 hsa-miR-520g hsa-miR-1205 hsa-miR-621
    SwitchGear 3'UTR luciferase reporter plasmidRP1L1 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: RP1L1 (NM_178857)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat RP1L1
      QuantiFast Probe-based Assays in human, mouse, rat RP1L1

    Additional mRNA sequence: 

    AJ491324.2 AY168341.1 AY168342.1 AY168343.1 AY168344.1 AY168345.1 AY168346.1 

    4 DOTS entries:

    DT.411175  DT.100020964  DT.100748800  DT.100020963 

    Selected AceView cDNA sequences (see all 29):

    BX101250 AA019117 AY168342 AY168344 BM719479 AY168341 BQ186792 CK299909 
    BQ184755 AK127545 BG395268 AA059256 BM682803 BM558973 BQ186229 H85580 
    R84770 AY168343 AA019118 NM_178857 BM930879 AY168345 AA058855 AY168346 

    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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    RP1L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTCCTGGG
    RP1L1 Expression
    About this image


    RP1L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
    RP1L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RP1L1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.33538

    UniProtKB/Swiss-Prot: RP1L1_HUMAN, Q8IWN7
    Tissue specificity: Retinal-specific; expressed in photoreceptor

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    (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 RP1L1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rp1l11 , 5 retinitis pigmentosa 1 homolog (human)-like 11, 5 64.05(n)1
    49.28(a)1
      14 (33.34 cM)5
    2712091  NM_146246.31  NP_666358.21 
     639924315 
    chicken
    (Gallus gallus)
    Aves RP1L16
    retinitis pigmentosa 1-like 1
    27(a)
    1 ↔ 1
    3(106375249-106398770)
    lizard
    (Anolis carolinensis)
    Reptilia RP1L16
    retinitis pigmentosa 1-like 1
    25(a)
    1 ↔ 1
    4(41026363-41042736)
    zebrafish
    (Danio rerio)
    Actinopterygii rp1l16
    RP1L1 (1 of 2)6
    retinitis pigmentosa 1-like 1
    15(a)
    10(a)
    1 ↔ many
    1 ↔ many
    17(5530317-5583829) ENSDARG00000089458
    20(19191960-19222737) ENSDARG00000088377
    worm
    (Caenorhabditis elegans)
    Secernentea F27C1.136
    Protein F27C1.13 (F27C1.13) mRNA, complete cds
    28(a)
    1 → many
    I(5443878-5446855) WBGene00017860


    ENSEMBL Gene Tree for RP1L1 (if available)
    TreeFam Gene Tree for RP1L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RP1L1 gene
    RP12  

    Find genes that share paralogs with RP1L1           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
    RP1L1_HUMAN, Q8IWN7: The exact length of RP1L1 is variable between individuals due to the presence of several length
    polymorphisms. The sequence shown here is that of allele RP1L1-6 and includes 8 repeats (from aa 1292-1422) with
    a length of 16 amino acids. The number of repeats is highly polymorphic and varies among different alleles,
    ranging from 3 to 8


    Selected SNPs for RP1L1 (see all 2032)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0651264
    Occult macular dystrophy (OCMD)4--see VAR_0651262 R W mis40--------
    VAR_0683504
    Occult macular dystrophy (OCMD)4--see VAR_0683502 S C mis40--------
    VAR_0651274
    Occult macular dystrophy (OCMD)4--see VAR_0651272 W R mis40--------
    rs2676070171,2
    Cpathogenic110706781(-) ATCCAC/TGGTTT 2 R W mis10--------
    rs2020744321,2
    Cuntested110696730(+) TACCTC/TCCCCA 2 K E mis10--------
    rs1465093181,2
    --9396370(+) TCTGAC/TTCTGG 2 E syn10--------
    rs1817183851,2
    C,F--9396382(+) TGGGCC/ATCCCC 2 /E /D mis11Minor allele frequency- A:0.01EU 1073
    rs1995777771,2
    F--9396391(+) CCTTCA/TGCCTC 2 A syn11Minor allele frequency- T:0.01EU 1069
    rs712033411,2
    C--10471111(-) TTTAC-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs2007870921,2
    C--10472228(+) AAAAA-/AGAAAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for RP1L1 (10463859 - 10569697 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for RP1L1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669109CNV Deletion23128226
    esv1658461CNV Insertion17803354
    esv997256CNV Insertion20482838
    nsv523113CNV Loss19592680
    nsv890352CNV Loss21882294
    nsv890351CNV Loss21882294
    nsv527445CNV Loss19592680
    nsv824532CNV Gain20364138

    Human Gene Mutation Database (HGMD): RP1L1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RP1L1
    DNA2.0 Custom Variant and Variant Library Synthesis for RP1L1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608581   
    OMIM disorders: 613587  
    UniProtKB/Swiss-Prot: RP1L1_HUMAN, Q8IWN7
  • Occult macular dystrophy (OCMD) [MIM:613587]: An inherited macular dystrophy characterized by progressive
    loss of macular function but normal ophthalmoscopic appearance. It is typically characterized by a central cone
    dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein
    angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and
    multifocal ERGs are significantly reduced at the central retina. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 2 diseases for RP1L1:    
    About MalaCards
    occult macular dystrophy    macular dystrophy

    2 diseases from the University of Copenhagen DISEASES database for RP1L1:
    Occult macular dystrophy     Retinitis pigmentosa

    Find genes that share disorders with RP1L1           About GenesLikeMe


    Export disorders for RP1L1 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 RP1L1 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with RP1L1)
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    1. Identification and characterization of the retinitis pigmentosa 1- like1 gene (rp1l1): a novel candidate for retinal degenerations. (PubMed id 12634863)1, 2, 3, 9 Conte I.... Banfi S. (Eur. J. Hum. Genet. 2003)
    2. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. (PubMed id 12724644)1, 2, 9 Bowne S.J.... Sullivan L.S. (Mol. Vis. 2003)
    3. Dominant mutations in RP1L1 are responsible for occult macular dystrophy. (PubMed id 20826268)1, 2 Akahori M.... Iwata T. (Am. J. Hum. Genet. 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Clinical and genetic characteristics of Korean occult macular dystrophy patients. (PubMed id 23745001)1 Ahn S.J....Woo S.J. (amp 2013)
    6. Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene. (PubMed id 23619761)1 Okuno T....Ikeda T. (Doc Ophthalmol 2013)
    7. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. (PubMed id 23281133)1 Davidson A.E....Webster A.R. (Hum. Mutat. 2013)
    8. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    9. A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms. (PubMed id 22605915)2 Kabuto T.... Takahashi H. (Mol. Vis. 2012)
    10. Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W). (PubMed id 22504327)1 Hayashi T....Tsuneoka H. (Optom Vis Sci 2012)

    (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: 94137 HGNC: 15946 AceView: RP1L1 Ensembl:ENSG00000183638 euGenes: HUgn94137
    ECgene: RP1L1 H-InvDB: RP1L1

    (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 RP1L1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RP1L1 gene:
    Search GeneIP for patents involving RP1L1

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



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