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Aliases for RP1 Gene

Aliases for RP1 Gene

  • Retinitis Pigmentosa 1 (Autosomal Dominant) 2 3
  • Retinitis Pigmentosa RP1 Protein 3 4
  • Retinitis Pigmentosa 1 Protein 3 4
  • ORP1 3 4
  • Oxygen-Regulated Protein 1 3
  • DCDC4A 3
  • O 6

External Ids for RP1 Gene

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 hereditary nephrotic syndromes and retinitis pigmentosa 1. 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

Genomic Location for RP1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RP1 Gene

Regulatory Elements 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
    Secondary Accessions:

    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 for RP1 Gene

Protein Domains for RP1 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

RP1_HUMAN
Domain:
  • The doublecortin domains, which mediate interaction with microtubules, are required for regulation of microtubule polymerization and function in photoreceptor differentiation.:
    • P56715
  • Contains 2 doublecortin domains.:
    • P56715
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).

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

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) , Transcription Factor Targeting 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:0001750 photoreceptor outer segment ISS --
GO:0001917 photoreceptor inner segment IDA 11773008
GO:0005874 microtubule IEA --
GO:0005875 microtubule associated complex ISS --
GO:0005929 cilium --
genes like me logo Genes that share ontologies with RP1: view

Pathways 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:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light TAS 10391211
GO:0035082 axoneme assembly ISS --
GO:0035556 intracellular signal transduction IEA --
GO:0035845 photoreceptor cell outer segment organization ISS --
genes like me logo Genes that share ontologies with RP1: view

No data available for Pathways by source for RP1 Gene

Transcripts for RP1 Gene

mRNA/cDNA for RP1 Gene

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 (8.6), Lung (7.7), Cervix - Endocervix (5.6), and Testis (5.0).

Integrated Proteomics: protein expression 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 expressions with RP1: view

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 36
  • 99.41 (n)
  • 98.7 (a)
RP1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RP1 36
  • 80.03 (n)
  • 68.4 (a)
RP1 37
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RP1 36
  • 83.13 (n)
  • 72.41 (a)
RP1 37
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rp1 36
  • 75.35 (n)
  • 62.74 (a)
Rp1 16
Rp1 37
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RP1 37
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 36 (a)
OneToMany
-- 37
  • 58 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rp1 36
  • 74.94 (n)
  • 61.02 (a)
zebrafish
(Danio rerio)
Actinopterygii rp1 37
  • 16 (a)
OneToMany
RP1 (2 of 2) 37
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F27C1.13 37
  • 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 MAF
rs145290 -- 54,617,052(+) GCAAT(A/G)AAGAG intron-variant
rs387287 -- 54,614,846(+) CTGGC(A/C)GAAAT upstream-variant-2KB
rs402441 -- 54,614,380(+) GCATT(C/T)CTTAG upstream-variant-2KB
rs405545 -- 54,614,375(+) TTTTG(A/G)CATTT upstream-variant-2KB
rs414352 Benign, - 54,628,953(+) GTTCA(C/T)CTATG missense, reference

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

Variant ID Type Subtype PubMed ID
nsv6196 CNV Loss 18451855

Relevant External Links for RP1 Gene

HapMap Linkage Disequilibrium report
RP1
Human Gene Mutation Database (HGMD)
RP1
Locus Specific Mutation Databases (LSDB)
RP1

Disorders for RP1 Gene

(2) OMIM Diseases for RP1 Gene (603937)

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.

(6) Novoseek inferred disease relationships for RP1 Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 1 97.3 4
retinitis pigmentosa 87.7 20
retinal degeneration 74.2 1
retinitis 68.7 3
blindness 50 2

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
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 49
  2. 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 49
  3. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. (PMID: 10401003) Guillonneau X. … Farber D.B. (Hum. Mol. Genet. 1999) 3 4 23
  4. 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 4 23
  5. Differential pattern of RP1 mutations in retinitis pigmentosa. (PMID: 20664799) Zhang X. … Pang C.P. (Mol. Vis. 2010) 3 4 49

Products for RP1 Gene

Sources for RP1 Gene

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