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Rp1l1 Gene Detail
Summary
  • Symbol
    Rp1l1
  • Name
    retinitis pigmentosa 1 homolog like 1
  • Synonyms
    Dcdc4, Rp1hl1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384303
    NCBI Gene: 271209
Location & Maps
more
  • Sequence Map
    Chr14:63992431-64033504 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      41074 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 33.34 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    RP1L1, retinitis pigmentosa 1 like 1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    RP1L1, retinitis pigmentosa 1 like 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DCDC4B
  • Links
    NCBI Gene ID: 94137
    neXtProt AC: NX_Q8IWN7

  • Chr Location
    8p23.1; chr8:10606349-10655107 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human RP1L1 associations

Human Disease Mouse Models
       Occult Macular Dystrophy; OCMD   OMIM: 613587
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    2 phenotypes from multigenic genotypes
    6 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    3
  • Chemically induced (other)
    1
  • Targeted
    2
  • Genomic Mutations
    1 involving Rp1l1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    99 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 7
    cDNA 6
    Other 1

    Microarray probesets 2
Other
Accession IDs
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MGI:3528177
References
more
  • Summaries
    All 30
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 6
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory