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RP1 retinitis pigmentosa 1 (autosomal dominant) [ Homo sapiens (human) ]

Gene ID: 6101, updated on 8-May-2016
Official Symbol
RP1provided by HGNC
Official Full Name
retinitis pigmentosa 1 (autosomal dominant)provided by HGNC
Primary source
HGNC:HGNC:10263
See related
Ensembl:ENSG00000104237 HPRD:04896; MIM:603937; Vega:OTTHUMG00000164379
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
ORP1; DCDC4A
Summary
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]
Orthologs
Location:
8q12.1
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (54616067..54630834)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (55528627..55682524)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 7 Neighboring gene SEC11 homolog B, signal peptidase complex subunit (pseudogene) Neighboring gene ribosomal protein L7 like 1 pseudogene Neighboring gene uncharacterized LOC105375842

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ50293, FLJ55454, FLJ79410

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
axoneme assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
axoneme assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
photoreceptor cell development IBA
Inferred from Biological aspect of Ancestor
more info
 
photoreceptor cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor cell maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor cell outer segment organization ISS
Inferred from Sequence or Structural Similarity
more info
 
phototransduction, visible light TAS
Traceable Author Statement
more info
PubMed 
retina development in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
 
retinal cone cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
retinal rod cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
microtubule associated complex ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor inner segment IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
oxygen-regulated protein 1
Names
retinitis pigmentosa 1 protein
retinitis pigmentosa RP1 protein

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_009840.1 RefSeqGene

    Range
    5001..19768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006269.1NP_006260.1  oxygen-regulated protein 1

    See identical proteins and their annotated locations for NP_006260.1

    Status: REVIEWED

    Source sequence(s)
    AF141021
    Consensus CDS
    CCDS6160.1
    UniProtKB/Swiss-Prot
    P56715
    Related
    ENSP00000220676, OTTHUMP00000226582, ENST00000220676, OTTHUMT00000378532
    Conserved Domains (1) summary
    cd01617
    Location:36114
    DCX; Ubiquitin-like domain of DCX

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    54616067..54630834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    55580233..55594998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)