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

Gene ID: 6101, updated on 1-Mar-2024

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; AllianceGenome:HGNC:10263
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
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Genomic context

See RP1 in Genome Data Viewer
Location:
8q11.23-q12.1
Exon count:
34
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (54559185..54871234)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (54886748..55248781)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (55471745..55783794)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene tRNA methyltransferase subunit 11-2 pseudogene 7 Neighboring gene SEC11 homolog B, signal peptidase complex subunit (pseudogene) Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:55541319-55542518 Neighboring gene Sharpr-MPRA regulatory region 1198 Neighboring gene RPL7L1 pseudogene 18 Neighboring gene uncharacterized LOC105375842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:55787756-55788338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:55795336-55796119 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:55809304-55810503 Neighboring gene MPRA-validated peak7023 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:55923506-55924006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:55962859-55963358 Neighboring gene uncharacterized LOC107986886 Neighboring gene uncharacterized LOC107986887 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:55991285-55992111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:56014243-56014910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:56015579-56016244 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:56040789-56041681 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:56054033-56054534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:56054535-56055034 Neighboring gene uncharacterized LOC105375844 Neighboring gene XK related 4

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ50293, FLJ55454, FLJ79410

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in axoneme assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in axoneme assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to light stimulus IEA
Inferred from Electronic Annotation
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in photoreceptor cell outer segment organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in phototransduction, visible light TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in retina development in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in retinal cone cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in retinal rod cell development ISS
Inferred from Sequence or Structural Similarity
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 ciliary tip IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 
part_of microtubule associated complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in photoreceptor inner segment IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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_009840.3 RefSeqGene

    Range
    61913..76651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001375654.1NP_001362583.1  oxygen-regulated protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC090137, AC090151, AC091076, AF128525
    UniProtKB/TrEMBL
    A0A1B0GUH0
    Conserved Domains (5) summary
    cd01756
    Location:392510
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cd17145
    Location:36114
    DCX1_RP1; Doublecortin-like domain 1 found in retinitis pigmentosa 1 (RP1)-like protein
    cd17147
    Location:154229
    DCX2_RP1; Dublecortin-like domain 2 found in retinitis pigmentosa 1 (RP1)-like protein
    cl00011
    Location:265381
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...
    cl00060
    Location:544578
    FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...
  2. NM_006269.2NP_006260.1  oxygen-regulated protein 1 isoform 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, ENST00000220676.2
    Conserved Domains (2) summary
    cd17145
    Location:36114
    DCX1_RP1; Doublecortin-like domain 1 found in retinitis pigmentosa 1 (RP1)-like protein
    cd17147
    Location:154229
    DCX2_RP1; Dublecortin-like domain 2 found in retinitis pigmentosa 1 (RP1)-like protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    54559185..54871234
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422069.1XP_047278025.1  oxygen-regulated protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A1B0GUH0
    Related
    ENSP00000490104.1, ENST00000637698.1
  2. XM_047422070.1XP_047278026.1  oxygen-regulated protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A1B0GUH0
  3. XM_047422071.1XP_047278027.1  oxygen-regulated protein 1 isoform X3

    UniProtKB/TrEMBL
    A0A1B0GUH0
  4. XM_047422072.1XP_047278028.1  oxygen-regulated protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A1B0GUH0
  5. XM_047422073.1XP_047278029.1  oxygen-regulated protein 1 isoform X5

    UniProtKB/TrEMBL
    A0A1B0GTV9
    Related
    ENSP00000489857.1, ENST00000636932.1
  6. XM_047422074.1XP_047278030.1  oxygen-regulated protein 1 isoform X6

    UniProtKB/TrEMBL
    A0A1B0GTV9
  7. XM_017014158.2XP_016869647.1  oxygen-regulated protein 1 isoform X7

    Conserved Domains (2) summary
    cd01756
    Location:707829
    PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
    cl00011
    Location:581695
    PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    54886748..55248781
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360957.1XP_054216932.1  oxygen-regulated protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A1B0GUH0
  2. XM_054360958.1XP_054216933.1  oxygen-regulated protein 1 isoform X7