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RP1L1 RP1 like 1 [ Homo sapiens (human) ]

Gene ID: 94137, updated on 5-Jan-2022

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
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
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Genomic context

See RP1L1 in Genome Data Viewer
Location:
8p23.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (10606349..10655143, complement)
105.20201022 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 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Occult macular dystrophy
MedGen: C3150833 OMIM: 613587 GeneReviews: Not available
Compare labs
Retinitis pigmentosa 88
MedGen: C5394208 OMIM: 618826 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in axoneme assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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)

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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/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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p13 PATCHES

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