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    RP1L1 RP1 like 1 [ Homo sapiens (human) ]

    Gene ID: 94137, updated on 28-Oct-2024

    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; AllianceGenome:HGNC:15946
    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
    OCMD; RP88; 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
    NEW
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    Genomic context

    See RP1L1 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (10606349..10655143, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (9083816..9132787)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (10463859..10512653, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene serine protease 51 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10382638-10383436 Neighboring gene serine protease 55 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10406483-10407477 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:10412556-10413270 Neighboring gene uncharacterized LOC105379237 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10449944-10450820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10459109-10459704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10459705-10460299 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10469845-10470570 Neighboring gene MPRA-validated peak6901 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10489151-10489860 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10493333-10494238 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10494239-10495144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10503027-10503883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10535715-10536216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10536217-10536716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10536733-10537272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10537273-10537810 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 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Occult macular dystrophy
    MedGen: C3150833 OMIM: 613587 GeneReviews: Not available
    Compare labs
    Retinitis pigmentosa 88
    MedGen: C5394208 OMIM: 618826 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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
      4965..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/Swiss-Prot
      A6NKC6, Q86SQ1, Q8IWN7, Q8IWN8, Q8IWN9, Q8IWP0, Q8IWP1, Q8IWP2
      UniProtKB/TrEMBL
      A0AAG2UWS8
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      10606349..10655143 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      2691934..2740690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      9083816..9132787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)