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RP1 RP1, axonemal microtubule associated [ Homo sapiens (human) ]

Gene ID: 6101, updated on 7-Oct-2018

Summary

Official Symbol
RP1provided by HGNC
Official Full Name
RP1, axonemal microtubule associatedprovided by HGNC
Primary source
HGNC:HGNC:10263
See related
Ensembl:ENSG00000104237 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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See RP1 in Genome Data Viewer
Location:
8q11.23-q12.1
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (54509448..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 translation initiation factor IF-2 Neighboring gene tRNA methyltransferase subunit 11-2 pseudogene 7 Neighboring gene SEC11 homolog B, signal peptidase complex subunit (pseudogene) Neighboring gene lipoxygenase homology domain-containing protein 1-like Neighboring gene ribosomal protein L7 like 1 pseudogene Neighboring gene uncharacterized LOC105375842

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
axoneme assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to light stimulus IEA
Inferred from Electronic Annotation
more info
 
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 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 
positive regulation of non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
retina development in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
ciliary tip 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
 

General protein information

Preferred Names
oxygen-regulated protein 1
Names
doublecortin domain containing 4A
retinitis pigmentosa 1 (autosomal dominant)
retinitis pigmentosa 1 protein
retinitis pigmentosa RP1 protein

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_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
    ENSP00000220676.1, OTTHUMP00000226582, ENST00000220676.1, OTTHUMT00000378532
    Conserved Domains (2) summary
    cd01617
    Location:154229
    DCX; Ubiquitin-like domain of DCX
    smart00537
    Location:31118
    DCX; Domain in the Doublecortin (DCX) gene product

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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
    54509448..54630834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013721.1XP_016869210.1  oxygen-regulated protein 1 isoform X1

  2. XM_017013722.1XP_016869211.1  oxygen-regulated protein 1 isoform X2

    UniProtKB/Swiss-Prot
    P56715
    Conserved Domains (2) summary
    cd01617
    Location:154229
    DCX; Ubiquitin-like domain of DCX
    smart00537
    Location:31118
    DCX; Domain in the Doublecortin (DCX) gene product
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