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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
  • Gene Overview
    MyGene.info: RPGRIP1
Location & Maps
more
  • Sequence Map
    Chr14:52110704-52163546 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      52843 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 26.81 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    RPGRIP1, retinitis pigmentosa GTPase regulator interacting protein 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    RPGRIP1, retinitis pigmentosa GTPase regulator interacting protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
  • Links
    NCBI Gene ID: 57096
    neXtProt AC: NX_Q96KN7

  • Chr Location
    14q11; chr14:21287962-21351301 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Rpgrip1 mouse models; 2 with human RPGRIP1 associations

Human Disease Mouse Models
       Leber Congenital Amaurosis 6; LCA6   OMIM: 613826 View 1 model
       Cone-Rod Dystrophy 13; CORD13   OMIM: 608194
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 3 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    1 images
    14 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
    57
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    1
  • Gene trapped
    53
  • Targeted
    1
  • Genomic Mutations
    1 involving Rpgrip1
  • Incidental Mutations
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
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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 OTTMUSG00000042894 VEGA Gene Model | MGI Sequence Detail 52843 C57BL/6J ±  kb
transcript OTTMUST00000112682 VEGA | MGI Sequence Detail 5380 Not Applicable  
polypeptide OTTMUSP00000063152 VEGA | MGI Sequence Detail 1331 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    609 from dbSNP Build 142
Protein
Information
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  • UniProt
    12 Sequences
  • Protein Ontology
    PR:000014182 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
  • InterPro Domains
    IPR000008 C2 domain
    IPR031134 Retinitis pigmentosa GTPase regulator-interacting protein 1
    IPR021656 RPGR-interacting protein 1, first C2 domain
    IPR031139 RPGRIP1 family
Molecular
Reagents
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  • All nucleic 17
    cDNA 17

    Microarray probesets 6
Other
Accession IDs
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MGI:1921176, MGI:1922291, MGI:1925195, MGI:2145556, MGI:3511346
References
more
  • Summaries
    All 47
    Developmental Gene Expression 6
    Diseases 1
    Gene Ontology 7
    Phenotypes 14
  • 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:234901 Potter PK, et al., Novel gene function revealed by mouse mutagenesis screens for models of age-related disease. Nat Commun. 2016;7:12444

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory