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Aliases for RP1 Gene

Aliases for RP1 Gene

  • Retinitis Pigmentosa 1 (Autosomal Dominant) 2 3 5
  • Retinitis Pigmentosa RP1 Protein 3 4
  • Retinitis Pigmentosa 1 Protein 3 4
  • ORP1 3 4
  • DCDC4A 3

External Ids for RP1 Gene

Previous GeneCards Identifiers for RP1 Gene

  • GC08P054800
  • GC08P055467
  • GC08P055251
  • GC08P055578
  • GC08P055691
  • GC08P050996
  • GC08P055539

Summaries for RP1 Gene

Entrez Gene Summary for RP1 Gene

  • 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]

GeneCards Summary for RP1 Gene

RP1 (Retinitis Pigmentosa 1 (Autosomal Dominant)) is a Protein Coding gene. Diseases associated with RP1 include retinitis pigmentosa 1 and retinitis pigmentosa. GO annotations related to this gene include microtubule binding. An important paralog of this gene is RP1L1.

UniProtKB/Swiss-Prot for RP1 Gene

  • Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity).

Gene Wiki entry for RP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RP1 Gene

Genomics for RP1 Gene

Regulatory Elements for RP1 Gene

Genomic Location for RP1 Gene

Chromosome:
8
Start:
54,616,067 bp from pter
End:
54,630,834 bp from pter
Size:
14,768 bases
Orientation:
Plus strand

Genomic View for RP1 Gene

Genes around RP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RP1 Gene

Proteins for RP1 Gene

  • Protein details for RP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56715-RP1_HUMAN
    Recommended name:
    Oxygen-regulated protein 1
    Protein Accession:
    P56715

    Protein attributes for RP1 Gene

    Size:
    2156 amino acids
    Molecular mass:
    240661 Da
    Quaternary structure:
    • Interacts (via the doublecortin domains) with microtubules. Interacts with RP1L1 (By similarity). Interacts with MAK (By similarity).

neXtProt entry for RP1 Gene

Proteomics data for RP1 Gene at MOPED

Post-translational modifications for RP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RP1 Gene

Domains & Families for RP1 Gene

Protein Domains for RP1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RP1 Gene

Graphical View of Domain Structure for InterPro Entry

P56715

UniProtKB/Swiss-Prot:

RP1_HUMAN :
  • The doublecortin domains, which mediate interaction with microtubules, are required for regulation of microtubule polymerization and function in photoreceptor differentiation.
Domain:
  • The doublecortin domains, which mediate interaction with microtubules, are required for regulation of microtubule polymerization and function in photoreceptor differentiation.
  • Contains 2 doublecortin domains.
genes like me logo Genes that share domains with RP1: view

No data available for Gene Families for RP1 Gene

Function for RP1 Gene

Molecular function for RP1 Gene

GENATLAS Biochemistry:
retina specific gene,mutated in RP1
UniProtKB/Swiss-Prot Function:
Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity).
genes like me logo Genes that share phenotypes with RP1: view

Human Phenotype Ontology for RP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RP1 Gene

MGI Knock Outs for RP1:

miRNA for RP1 Gene

miRTarBase miRNAs that target RP1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for RP1 Gene

Localization for RP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RP1 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium, photoreceptor outer segment. Note=Specifically localized in the connecting cilia of rod and cone photoreceptors.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RP1 Gene COMPARTMENTS Subcellular localization image for RP1 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for RP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IDA 11773008
genes like me logo Genes that share ontologies with RP1: view

Pathways & Interactions for RP1 Gene

SuperPathways for RP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007603 phototransduction, visible light TAS 10391211
GO:0035082 axoneme assembly ISS --
GO:0060041 retina development in camera-type eye IBA --
genes like me logo Genes that share ontologies with RP1: view

No data available for Pathways by source and SIGNOR curated interactions for RP1 Gene

Drugs & Compounds for RP1 Gene

No Compound Related Data Available

Transcripts for RP1 Gene

mRNA/cDNA for RP1 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(33) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RP1 Gene

Retinitis pigmentosa 1 (autosomal dominant):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RP1 Gene

No ASD Table

Relevant External Links for RP1 Gene

GeneLoc Exon Structure for
RP1
ECgene alternative splicing isoforms for
RP1

Expression for RP1 Gene

mRNA expression in normal human tissues for RP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RP1 Gene

This gene is overexpressed in Fallopian Tube (x8.6), Lung (x7.7), Cervix - Endocervix (x5.6), and Testis (x5.0).

Protein differential expression in normal tissues from HIPED for RP1 Gene

This gene is overexpressed in Plasma (28.0), Pancreas (15.8), and Retina (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RP1 Gene



SOURCE GeneReport for Unigene cluster for RP1 Gene Hs.732820

mRNA Expression by UniProt/SwissProt for RP1 Gene

P56715-RP1_HUMAN
Tissue specificity: Expressed in retina. Not expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, spleen and pancreas.
genes like me logo Genes that share expression patterns with RP1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for RP1 Gene

Orthologs for RP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RP1 35
  • 80.03 (n)
  • 68.4 (a)
RP1 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RP1 35
  • 83.13 (n)
  • 72.41 (a)
RP1 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rp1 35
  • 75.35 (n)
  • 62.74 (a)
Rp1 16
Rp1 36
  • 59 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RP1 35
  • 99.41 (n)
  • 98.7 (a)
RP1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rp1 35
  • 74.94 (n)
  • 61.02 (a)
oppossum
(Monodelphis domestica)
Mammalia RP1 36
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 36 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii rp1 36
  • 16 (a)
OneToMany
RP1 (2 of 2) 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F27C1.13 36
  • 27 (a)
OneToMany
Species with no ortholog for RP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RP1 Gene

ENSEMBL:
Gene Tree for RP1 (if available)
TreeFam:
Gene Tree for RP1 (if available)

Paralogs for RP1 Gene

Paralogs for RP1 Gene

genes like me logo Genes that share paralogs with RP1: view

Variants for RP1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for RP1 Gene

P56715-RP1_HUMAN
Tyr-985 is associated with susceptibility to hypertriglyceridemia [MIM:145750] in the homozygous state.

Sequence variations from dbSNP and Humsavar for RP1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs444772 - 54,626,497(+) AAAAC(A/G)TAAAG reference, missense
rs2293869 - 54,626,835(+) GAGAT(A/T)ATCTA reference, missense
rs446227 - 54,628,890(+) GGAAA(A/G)CAAGT reference, missense
rs414352 - 54,628,953(+) GTTCA(C/T)CTATG reference, missense
rs61739567 - 54,629,980(+) GTTTT(A/G/T)TATGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for RP1 Gene

Variant ID Type Subtype PubMed ID
nsv6196 CNV Loss 18451855

Variation tolerance for RP1 Gene

Residual Variation Intolerance Score: 80.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.81; 98.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RP1 Gene

HapMap Linkage Disequilibrium report
RP1
Human Gene Mutation Database (HGMD)
RP1

Disorders for RP1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 1
  • retinitis pigmentosa-1
retinitis pigmentosa
  • retinitis pigmentosa 1
rp1-related retinitis pigmentosa
  • rp1
retinitis
cone-rod dystrophy 1
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search RP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RP1_HUMAN
  • Retinitis pigmentosa 1 (RP1) [MIM:180100]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:10391211, ECO:0000269 PubMed:10484783, ECO:0000269 PubMed:11095597, ECO:0000269 PubMed:15863674, ECO:0000269 PubMed:15933747, ECO:0000269 PubMed:19956407, ECO:0000269 PubMed:20664799, ECO:0000269 PubMed:22052604, ECO:0000269 PubMed:22334370}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for RP1 Gene

retinitis pigmentosa 1,autosomal dominant

Relevant External Links for RP1

Genetic Association Database (GAD)
RP1
Human Genome Epidemiology (HuGE) Navigator
RP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RP1
genes like me logo Genes that share disorders with RP1: view

Publications for RP1 Gene

  1. Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene. (PMID: 12764676) Fujita Y. … Saito Y. (J. Hum. Genet. 2003) 3 4 23 48 67
  2. Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa. (PMID: 16568030) Roberts L. … Greenberg J. (Mol. Vis. 2006) 3 23
  3. Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa. (PMID: 15183808) Kawamura M. … Tamai M. (Am. J. Ophthalmol. 2004) 3 23
  4. De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. (PMID: 12882812) Schwartz S.B. … Stone E.M. (Invest. Ophthalmol. Vis. Sci. 2003) 3 23
  5. Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. (PMID: 11773008) Liu Q. … Pierce E.A. (Invest. Ophthalmol. Vis. Sci. 2002) 3 23

Products for RP1 Gene

Sources for RP1 Gene

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