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Rpgrip1l Gene Detail
Summary
  • Symbol
    Rpgrip1l
  • Name
    Rpgrip1-like
  • Synonyms
    1700047E16Rik, fantom, Ftm, Nphp8
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920563
    NCBI Gene: 244585
Location & Maps
more
  • Sequence Map
    Chr8:91217030-91313262 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      96233 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 44.29 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    RPGRIP1L, RPGRIP1 like
  • Vertebrate Orthologs
    10
  • Human Ortholog
    RPGRIP1L, RPGRIP1 like
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134
  • Links
    NCBI Gene ID: 23322
    neXtProt AC: NX_Q68CZ1

  • Chr Location
    16q12.2; chr16:53599906-53703859 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Rpgrip1l mouse models; 4 with human RPGRIP1L associations

Human Disease Mouse Models
       Joubert Syndrome 7; JBTS7   OMIM: 611560 View 1 model
Meckel Syndrome, Type 5; MKS5   OMIM: 611561 View 1 model
       COACH Syndrome   OMIM: 216360
Joubert Syndrome 1; JBTS1   OMIM: 213300
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    39 phenotypes from 2 alleles in 2 genetic backgrounds
    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.
Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024417 VEGA Gene Model | MGI Sequence Detail 96233 C57BL/6J ±  kb
transcript OTTMUST00000059851 VEGA | MGI Sequence Detail 7009 Not Applicable  
polypeptide OTTMUSP00000029151 VEGA | MGI Sequence Detail 1264 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    715 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 24
    cDNA 23
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 44
    Developmental Gene Expression 9
    Diseases 2
    Gene Ontology 8
    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:226932 Gerhardt C, et al., The transition zone protein Rpgrip1l regulates proteasomal activity at the primary cilium. J Cell Biol. 2015 Jul 6;210(1):115-33

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
08/17/2016
MGI 6.05
The Jackson Laboratory