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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:64229880-64270955 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 33.34 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    99 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384303
 protein coding gene Chr14:64229880-64272474 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021468
 protein coding gene Chr14:58545988-58594139 (+)
A/J MGP_AJ_G0021427
 protein coding gene Chr14:57204855-57247337 (+)
AKR/J MGP_AKRJ_G0021403
 protein coding gene Chr14:59231389-59274946 (+)
BALB/cJ MGP_BALBcJ_G0021433
 protein coding gene Chr14:57162108-57203846 (+)
C3H/HeJ MGP_C3HHeJ_G0021210
 protein coding gene Chr14:58856851-58901253 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021872
 protein coding gene Chr14:61287142-61333173 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019412
 protein coding gene Chr14:55141483-55182091 (+)
CAST/EiJ MGP_CASTEiJ_G0020727
 protein coding gene Chr14:55305314-55351776 (+)
CBA/J MGP_CBAJ_G0021177
 protein coding gene Chr14:63132612-63181614 (+)
DBA/2J MGP_DBA2J_G0021300
 protein coding gene Chr14:56878325-56922957 (+)
FVB/NJ MGP_FVBNJ_G0021279
 protein coding gene Chr14:56262701-56310380 (+)
LP/J MGP_LPJ_G0021375
 protein coding gene Chr14:59581980-59630957 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021308
 protein coding gene Chr14:62324101-62369050 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021895
 protein coding gene Chr14:58385992-58433116 (+)
PWK/PhJ MGP_PWKPhJ_G0020471
 protein coding gene Chr14:53556077-53596668 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020304
 protein coding gene Chr14:54351271-54395137 (+)
WSB/EiJ MGP_WSBEiJ_G0020780
 protein coding gene Chr14:58705802-58747917 (+)



Homology
more
  • Human Ortholog
    RP1L1, RP1 like 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RP1L1, RP1 like 1
  • Synonyms
    DCDC4B, OCMD, RP88
  • Links
    NCBI Gene ID: 94137
    neXtProt AC: NX_Q8IWN7
    UniProt: Q8IWN7

  • Chr Location
    8p23.1; chr8:10606349-10712187 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human RP1L1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    2 phenotypes from multigenic genotypes
    8 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    18
  • GO References
    5
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
DNA-templated transcription
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    723
  • Tissues
    12
  • cDNA Data
    5
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 271209 NCBI Gene Model | MGI Sequence Detail 41076 C57BL/6J ±  kb
    transcript NM_146246 RefSeq | MGI Sequence Detail 6811 Not Specified  
    polypeptide Q8CGM2 UniProt | EBI | MGI Sequence Detail 1859 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 7
      Other 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:3528177
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 3
      Gene Ontology 5
      Phenotypes 8
    • 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:282558 Collin GB, et al., Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells. 2020 Apr 10;9(4):931
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/28/2023
    MGI 6.22     		The Jackson Laboratory