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Aliases for RP1L1 Gene

Aliases for RP1L1 Gene

  • Retinitis Pigmentosa 1-Like 1 2 3 5
  • DCDC4B 3

External Ids for RP1L1 Gene

Previous GeneCards Identifiers for RP1L1 Gene

  • GC00U991063
  • GC08U900030
  • GC08M010335
  • GC08M010501
  • GC08M009394

Summaries for RP1L1 Gene

Entrez Gene Summary for RP1L1 Gene

  • This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]

GeneCards Summary for RP1L1 Gene

RP1L1 (Retinitis Pigmentosa 1-Like 1) is a Protein Coding gene. Diseases associated with RP1L1 include occult macular dystrophy and retinitis pigmentosa 1. An important paralog of this gene is RP1.

UniProtKB/Swiss-Prot for RP1L1 Gene

  • Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RP1L1 Gene

Genomics for RP1L1 Gene

Regulatory Elements for RP1L1 Gene

Genomic Location for RP1L1 Gene

Chromosome:
8
Start:
10,606,349 bp from pter
End:
10,712,187 bp from pter
Size:
105,839 bases
Orientation:
Minus strand

Genomic View for RP1L1 Gene

Genes around RP1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RP1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RP1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RP1L1 Gene

Proteins for RP1L1 Gene

  • Protein details for RP1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWN7-RP1L1_HUMAN
    Recommended name:
    Retinitis pigmentosa 1-like 1 protein
    Protein Accession:
    Q8IWN7
    Secondary Accessions:
    • Q86SQ1
    • Q8IWN8
    • Q8IWN9
    • Q8IWP0
    • Q8IWP1
    • Q8IWP2

    Protein attributes for RP1L1 Gene

    Size:
    2480 amino acids
    Molecular mass:
    261207 Da
    Quaternary structure:
    • Interacts with RP1; has a synergistic effect with RP1 in photoreceptor differentiation.

    Alternative splice isoforms for RP1L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RP1L1 Gene

Proteomics data for RP1L1 Gene at MOPED

Post-translational modifications for RP1L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RP1L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RP1L1 Gene

Domains & Families for RP1L1 Gene

Protein Domains for RP1L1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RP1L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IWN7

UniProtKB/Swiss-Prot:

RP1L1_HUMAN :
  • The C-terminal part contains a large repetitive region which contains an unusually high percentage of glutamine, glycine and above all glutamic acid residues.
Domain:
  • The C-terminal part contains a large repetitive region which contains an unusually high percentage of glutamine, glycine and above all glutamic acid residues.
  • Contains 2 doublecortin domains.
genes like me logo Genes that share domains with RP1L1: view

No data available for Gene Families for RP1L1 Gene

Function for RP1L1 Gene

Molecular function for RP1L1 Gene

UniProtKB/Swiss-Prot Function:
Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity).

Phenotypes for RP1L1 Gene

MGI mutant phenotypes for RP1L1:
inferred from 1 alleles
GenomeRNAi human phenotypes for RP1L1:
genes like me logo Genes that share phenotypes with RP1L1: view

Human Phenotype Ontology for RP1L1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RP1L1 Gene

MGI Knock Outs for RP1L1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for RP1L1 Gene

Localization for RP1L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RP1L1 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium, photoreceptor outer segment. Note=Localized to the axoneme of outer segments and connecting cilia in rod photoreceptors. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RP1L1 Gene COMPARTMENTS Subcellular localization image for RP1L1 gene
Compartment Confidence
extracellular 5
cytoskeleton 3
cytosol 2
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for RP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with RP1L1: view

Pathways & Interactions for RP1L1 Gene

SuperPathways for RP1L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035556 intracellular signal transduction IEA --
GO:0045494 photoreceptor cell maintenance IEA,ISS --
GO:0060041 retina development in camera-type eye IBA --
genes like me logo Genes that share ontologies with RP1L1: view

No data available for Pathways by source and SIGNOR curated interactions for RP1L1 Gene

Drugs & Compounds for RP1L1 Gene

No Compound Related Data Available

Transcripts for RP1L1 Gene

mRNA/cDNA for RP1L1 Gene

Unigene Clusters for RP1L1 Gene

Retinitis pigmentosa 1-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RP1L1 Gene

No ASD Table

Relevant External Links for RP1L1 Gene

GeneLoc Exon Structure for
RP1L1
ECgene alternative splicing isoforms for
RP1L1

Expression for RP1L1 Gene

mRNA expression in normal human tissues for RP1L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RP1L1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x5.5) and Skin - Not Sun Exposed (Suprapubic) (x4.2).

Protein differential expression in normal tissues from HIPED for RP1L1 Gene

This gene is overexpressed in CD4 Tcells (21.4), Retina (16.3), Fetal Brain (14.2), and Heart (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RP1L1 Gene



SOURCE GeneReport for Unigene cluster for RP1L1 Gene Hs.33538

mRNA Expression by UniProt/SwissProt for RP1L1 Gene

Q8IWN7-RP1L1_HUMAN
Tissue specificity: Retinal-specific; expressed in photoreceptor.
genes like me logo Genes that share expression patterns with RP1L1: view

Protein tissue co-expression partners for RP1L1 Gene

Primer Products

In Situ Assay Products

Orthologs for RP1L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RP1L1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RP1L1 35
  • 68.84 (n)
  • 53.94 (a)
RP1L1 36
  • 42 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RP1L1 35
  • 70.13 (n)
  • 55.93 (a)
RP1L1 36
  • 50 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rp1l1 35
  • 64.05 (n)
  • 49.28 (a)
Rp1l1 16
Rp1l1 36
  • 45 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RP1L1 35
  • 95.06 (n)
  • 92.33 (a)
RP1L1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC683404 35
  • 64.24 (n)
  • 50.19 (a)
oppossum
(Monodelphis domestica)
Mammalia RP1L1 36
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves RP1L1 36
  • 27 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RP1L1 36
  • 25 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rp1l1 36
  • 15 (a)
OneToMany
RP1L1 (1 of 2) 36
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F27C1.13 36
  • 28 (a)
OneToMany
Species with no ortholog for RP1L1:
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 RP1L1 Gene

ENSEMBL:
Gene Tree for RP1L1 (if available)
TreeFam:
Gene Tree for RP1L1 (if available)

Paralogs for RP1L1 Gene

Paralogs for RP1L1 Gene

genes like me logo Genes that share paralogs with RP1L1: view

Variants for RP1L1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for RP1L1 Gene

Q8IWN7-RP1L1_HUMAN
The exact length of RP1L1 is variable between individuals due to the presence of several length polymorphisms. The sequence shown here is that of allele RP1L1-6 and includes 8 repeats (from aa 1292-1422) with a length of 16 amino acids. The number of repeats is highly polymorphic and varies among different alleles, ranging from 3 to 8.

Sequence variations from dbSNP and Humsavar for RP1L1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_017700 -
VAR_017701 -
rs6601495 - 10,622,867(+) TGGGG(A/C/G)TCTTG reference, missense
VAR_017703 -
VAR_017704 -

Structural Variations from Database of Genomic Variants (DGV) for RP1L1 Gene

Variant ID Type Subtype PubMed ID
nsv890351 CNV Loss 21882294
nsv890352 CNV Loss 21882294
nsv527445 CNV Loss 19592680
nsv824532 CNV Gain 20364138
esv2669109 CNV Deletion 23128226
esv997256 CNV Insertion 20482838
esv1658461 CNV Insertion 17803354
nsv523113 CNV Loss 19592680

Variation tolerance for RP1L1 Gene

Residual Variation Intolerance Score: 99.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 29.90; 99.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RP1L1 Gene

HapMap Linkage Disequilibrium report
RP1L1
Human Gene Mutation Database (HGMD)
RP1L1

Disorders for RP1L1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RP1L1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
occult macular dystrophy
  • ocmd
retinitis pigmentosa 1
  • retinitis pigmentosa-1
presbyopia
eye accommodation disease
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search RP1L1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RP1L1_HUMAN
  • Occult macular dystrophy (OCMD) [MIM:613587]: An inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. It is typically characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina. {ECO:0000269 PubMed:20826268, ECO:0000269 PubMed:22605915}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RP1L1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RP1L1
genes like me logo Genes that share disorders with RP1L1: view

No data available for Genatlas for RP1L1 Gene

Publications for RP1L1 Gene

  1. Identification and characterization of the retinitis pigmentosa 1- like1 gene (rp1l1): a novel candidate for retinal degenerations. (PMID: 12634863) Conte I. … Banfi S. (Eur. J. Hum. Genet. 2003) 2 3 4 23 67
  2. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. (PMID: 12724644) Bowne S.J. … Sullivan L.S. (Mol. Vis. 2003) 3 23
  3. Cone dystrophy in patient with homozygous RP1L1 mutation. (PMID: 25692141) Kikuchi S. … Takahashi H. (Biomed Res Int 2015) 3
  4. Transcriptional regulatory network of SOX4 during myoblast differentiation. (PMID: 25969425) Jang S.M. … Choi K.H. (Biochem. Biophys. Res. Commun. 2015) 3
  5. Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P). (PMID: 24838559) Takahashi H. … Kawashima H. (Doc Ophthalmol 2014) 3

Products for RP1L1 Gene

Sources for RP1L1 Gene

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