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Rpgrip1 Gene Detail
Summary
  • Symbol
    Rpgrip1
  • Name
    retinitis pigmentosa GTPase regulator interacting protein 1
  • Synonyms
    4930401L23Rik, 4930505G06Rik, A930002K18Rik, nmf247
  • Feature Type
    protein coding gene
  • IDs
    MGI:1932134
    NCBI Gene: 77945
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:52348161-52401003 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 26.81 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1436 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1932134
 protein coding gene Chr14:52341698-52401003 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021291
 protein coding gene Chr14:46142108-46195829 (+)
A/J MGP_AJ_G0021248
 protein coding gene Chr14:44929792-44982868 (+)
AKR/J MGP_AKRJ_G0021224
 protein coding gene Chr14:46551091-46606522 (+)
BALB/cJ MGP_BALBcJ_G0021252
 protein coding gene Chr14:45038286-45089920 (+)
C3H/HeJ MGP_C3HHeJ_G0021032
 protein coding gene Chr14:46365983-46418414 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021691
 protein coding gene Chr14:48178946-48242787 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019235
 protein coding gene Chr14:44131471-44186836 (+)
CAST/EiJ MGP_CASTEiJ_G0020551
 protein coding gene Chr14:43333107-43391491 (+)
CBA/J MGP_CBAJ_G0020999
 protein coding gene Chr14:49641803-49696996 (+)
DBA/2J MGP_DBA2J_G0021120
 protein coding gene Chr14:44703677-44755740 (+)
FVB/NJ MGP_FVBNJ_G0021103
 protein coding gene Chr14:44286546-44337962 (+)
LP/J MGP_LPJ_G0021195
 protein coding gene Chr14:46736876-46791095 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021126
 protein coding gene Chr14:49092839-49153640 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021718
 protein coding gene Chr14:45939745-45992630 (+)
PWK/PhJ MGP_PWKPhJ_G0020300
 protein coding gene Chr14:41443321-41495491 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020127
 protein coding gene Chr14:41974014-42029220 (+)
WSB/EiJ MGP_WSBEiJ_G0020604
 protein coding gene Chr14:46262429-46315969 (+)



Homology
more
  • Human Ortholog
    RPGRIP1, RPGR interacting protein 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RPGRIP1, RPGR interacting protein 1
  • Synonyms
    CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
  • Links
    NCBI Gene ID: 57096
    neXtProt AC: NX_Q96KN7
    UniProt: Q96KN7

  • Chr Location
    14q11.2; chr14:21280083-21351301 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Rpgrip1 mouse models; 4 with human RPGRIP1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 4 alleles in 6 genetic backgrounds
    1 phenotype from multigenic genotypes
    1 images
    18 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.
Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    9
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
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless 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
    729
  • Tissues
    17
  • cDNA Data
    9
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000057132 Ensembl Gene Model | MGI Sequence Detail 52843 C57BL/6J ±  kb
    transcript ENSMUST00000111603 Ensembl | MGI Sequence Detail 5380 Not Applicable  
    polypeptide ENSMUSP00000107230 Ensembl | MGI Sequence Detail 1331 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 18

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1921176, MGI:1922291, MGI:1925195, MGI:2145556, MGI:3511346
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 6
      Diseases 2
      Gene Ontology 9
      Phenotypes 18
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • 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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory