Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RP1 Gene

Aliases for RP1 Gene

  • RP1, Axonemal Microtubule Associated 2 3 5
  • Retinitis Pigmentosa 1 (Autosomal Dominant) 2 3
  • Doublecortin Domain Containing 4A 2 3
  • Retinitis Pigmentosa RP1 Protein 3 4
  • Retinitis Pigmentosa 1 Protein 3 4
  • Oxygen-Regulated Protein 1 2 3
  • ORP1 3 4
  • DCDC4A 3

External Ids for RP1 Gene

Previous GeneCards Identifiers for RP1 Gene

  • GC08P054800
  • GC08P055467
  • GC08P055251
  • GC08P055578
  • GC08P055691
  • GC08P050996
  • GC08P055539
  • GC08P054616

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 (RP1, Axonemal Microtubule Associated) is a Protein Coding gene. Diseases associated with RP1 include Retinitis Pigmentosa 1 and Retinitis Pigmentosa. Gene Ontology (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

Additional gene information for RP1 Gene

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

Genomics for RP1 Gene

GeneHancer (GH) Regulatory Elements for RP1 Gene

Promoters and enhancers for RP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I054554 Enhancer 0.7 Ensembl ENCODE 550.8 +0.2 211 0.8 ZNF335 POLR2A HLF TCF7L2 RP1 GC08P054612
GH08I054616 Promoter 0.5 EPDnew 550.2 +61.7 61716 0.1 RP1 LYPLA1 GC08P054612 LOC100131013
GH08I054335 Enhancer 0.9 ENCODE dbSUPER 9.3 -217.7 -217743 1.7 JUN TEAD4 TAL1 FOSL1 TCF12 NCOR1 POLR2A FOXK2 CBFA2T2 NFE2 RP1 RNU105C GC08P054349
GH08I054525 Enhancer 0.4 ENCODE 11.4 -29.1 -29145 0.2 ZNF777 CEBPB TCF7L2 SEC11B RP1
GH08I054177 Enhancer 0.3 dbSUPER 10.1 -374.9 -374917 3.1 JUN MRPL15 RP1 ATP6V1H GC08M054193 RNU6ATAC32P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RP1 gene promoter:

Genomic Locations for RP1 Gene

Genomic Locations for RP1 Gene
chr8:54,554,361-54,871,720
(GRCh38/hg38)
Size:
317,360 bases
Orientation:
Plus strand
chr8:55,528,627-55,543,394
(GRCh37/hg19)

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

Post-translational modifications for RP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RP1 Gene

No data available for DME Specific Peptides for RP1 Gene

Domains & Families for RP1 Gene

Gene Families for RP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RP1 Gene

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.
genes like me logo Genes that share domains with RP1: view

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).

Phenotypes From GWAS Catalog for RP1 Gene

Gene Ontology (GO) - Molecular Function for RP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21148103
GO:0008017 microtubule binding ISS --
genes like me logo Genes that share ontologies with RP1: view
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RP1 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for RP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment ISS --
GO:0001917 photoreceptor inner segment IEA,IDA 11773008
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with RP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RP1 Gene

Pathways & Interactions for RP1 Gene

No Data Available

Interacting Proteins for RP1 Gene

Gene Ontology (GO) - Biological Process for RP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception TAS,IEA --
GO:0007603 phototransduction, visible light TAS 10391211
GO:0030030 cell projection organization IEA --
GO:0035082 axoneme assembly ISS,IEA --
GO:0035556 intracellular signal transduction IEA --
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

Unigene Clusters for RP1 Gene

Retinitis pigmentosa 1 (autosomal dominant):
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of RP1 Gene:

RP1

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.

Evidence on tissue expression from TISSUES for RP1 Gene

  • Eye(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with RP1: view

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
chimpanzee
(Pan troglodytes)
Mammalia RP1 33 34
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia RP1 33 34
  • 83.13 (n)
cow
(Bos Taurus)
Mammalia RP1 33 34
  • 80.03 (n)
mouse
(Mus musculus)
Mammalia Rp1 33 16 34
  • 75.35 (n)
rat
(Rattus norvegicus)
Mammalia Rp1 33
  • 74.94 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 58 (a)
OneToMany
-- 34
  • 36 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia RP1 34
  • 45 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rp1 34
  • 16 (a)
OneToMany
RP1 (2 of 2) 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F27C1.13 34
  • 27 (a)
OneToMany
Species where no ortholog for RP1 was found in the sources mined by GeneCards:
  • 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

RP1_HUMAN-P56715
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 Variation AA Info Type
rs104894082 pathogenic, Retinitis pigmentosa 1, not provided 54,625,911(+) C/T coding_sequence_variant, stop_gained
rs104894083 pathogenic, Retinitis pigmentosa 1 54,625,917(+) C/T coding_sequence_variant, stop_gained
rs10654889 uncertain-significance, likely-benign, Retinitis Pigmentosa, Dominant 54,630,601(+) TTTTTTTTTTTTTT/TTTTTTTTTTTTT/TTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTT 3_prime_UTR_variant
rs112667487 likely-benign, Retinitis Pigmentosa, Dominant 54,626,873(+) T/C coding_sequence_variant, synonymous_variant
rs113793810 likely-benign, Retinitis Pigmentosa, Dominant 54,629,583(+) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv6196 CNV deletion 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)

Additional Variant Information for RP1 Gene

Human Gene Mutation Database (HGMD)
RP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RP1

SNP Genotyping and Copy Number Assay Products

Disorders for RP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 1
  • rp1
retinitis pigmentosa
  • rp
rhyns syndrome
  • retinitis pigmentosa syndrome
retinitis
- 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

Additional Disease Information for RP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Journal of human genetics 2003) 3 4 22 44 58
  2. Differential pattern of RP1 mutations in retinitis pigmentosa. (PMID: 20664799) Zhang X … Pang CP (Molecular vision 2010) 3 4 44 58
  3. De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. (PMID: 12882812) Schwartz SB … Stone EM (Investigative ophthalmology & visual science 2003) 3 22 44 58
  4. Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. (PMID: 11773008) Liu Q … Pierce EA (Investigative ophthalmology & visual science 2002) 3 4 22 58
  5. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. (PMID: 10391211) Pierce EA … Dryja TP (Nature genetics 1999) 2 3 4 58

Products for RP1 Gene

Sources for RP1 Gene

Content
Loading form....