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    RP1L1 RP1 like 1 [ Homo sapiens (human) ]

    Gene ID: 94137, updated on 12-May-2019

    Summary

    Official Symbol
    RP1L1provided by HGNC
    Official Full Name
    RP1 like 1provided by HGNC
    Primary source
    HGNC:HGNC:15946
    See related
    Ensembl:ENSG00000183638 MIM:608581
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DCDC4B
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See RP1L1 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (10606349..10655107, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (10463859..10512617, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene serine protease 55 Neighboring gene uncharacterized LOC105379237 Neighboring gene microRNA 4286 Neighboring gene chromosome 8 open reading frame 74 Neighboring gene RNA, 5S ribosomal pseudogene 252

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Occult macular dystrophy
    MedGen: C3150833 OMIM: 613587 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    photoreceptor cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    photoreceptor cell maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retina development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor connecting cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    photoreceptor outer segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    retinitis pigmentosa 1-like 1 protein
    Names
    doublecortin domain containing 4B
    retinitis pigmentosa 1 like 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028035.1 RefSeqGene

      Range
      5001..53759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_178857.6NP_849188.4  retinitis pigmentosa 1-like 1 protein

      Status: REVIEWED

      Source sequence(s)
      AC104964, AC105001
      Consensus CDS
      CCDS43708.1
      UniProtKB/TrEMBL
      A6NKC6
      Related
      ENSP00000371923.3, ENST00000382483.4
      Conserved Domains (4) summary
      cd01617
      Location:34111
      DCX; Ubiquitin-like domain of DCX
      cl00155
      Location:152226
      UBQ; Ubiquitin-like proteins
      cl27511
      Location:20202260
      Na_Ca_ex; Sodium/calcium exchanger protein
      cl28033
      Location:561904
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      10606349..10655107 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p12 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p12 PATCHES

      Range
      2691970..2740690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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