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Rp1l1
Gene Detail
Symbol

Name
ID
Rp1l1
retinitis pigmentosa 1 homolog (human)-like 1
MGI:2384303
Synonyms
Dcdc4, Rp1hl1
Feature Type
protein coding gene
Genetic Map
Chromosome 14
33.34 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr14:63992431-64033504 bp, + strand
From Ensembl annotation of GRCm38

  41074 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:105870  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Gene Tree: Rp1l1

Human
homologs
Human Homolog RP1L1, retinitis pigmentosa 1-like 1
NCBI Gene ID 94137
neXtProt AC  NX_Q8IWN7
Human Synonyms  DCDC4B
Human Chr (Location)  8p23.1; chr8:10606349-10655107 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human RP1L1
Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit retinal photoreceptor abnormalities, including scattered outer segment disorganization, reduced electroretinogram amplitudes, and progressive retinal rod cell degeneration.
 
Interactions
Rp1l1 interacts with 216 markers (Mir1b, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process axoneme assembly, cell projection organization, ...
Component axoneme, cell projection, ...
Function molecular_function
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (17)    Tissues (12)    Images (12)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 17
cDNA source data(4)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(7) cDNA(6) Other(1)
Microarray probesets(2)
Other database
links
Ensembl Gene ModelENSMUSG00000046049 (Evidence)
Entrez Gene271209 (Evidence)
DFCITC1696167, TC1597024, TC1587303
DoTSDT.101366436, DT.96085568
Consensus CDS ProjectCCDS36951.1
International Mouse Knockout Project StatusRp1l1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000046049 Ensembl Gene Model | MGI Sequence Detail 41074 C57BL/6J ±  kb
transcript ENSMUST00000058229 Ensembl | MGI Sequence Detail 6757 Not Applicable 
polypeptide ENSMUSP00000055449 Ensembl | MGI Sequence Detail 1859 Not Applicable 

For the selected sequences
All sequences(25) RefSeq(2) UniProt(5)
Polymorphisms
SNPs within 2kb(99 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003533 Doublecortin domain
Protein Ontology PR:000014167 retinitis pigmentosa 1-like 1 protein
References
(Earliest) J:83424 Bowne SJ, et al., Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Mol Vis. 2003 Apr 24;9:129-37
(Latest) J:202730 Davidson AE, et al., RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. Hum Mutat. 2013 Mar;34(3):506-14
All references(33)
Other
accession IDs
MGI:3528177

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory