Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Rpgrip1l. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of September 6, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Rpgrip1l
  • is located in the following cellular components:
    • microtubule basal body ^[4]
• The gene product of Rpgrip1l has been shown to bind to the gene products of Iqcb1, Nphp4. ^[3]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Rpgrip1l
  • participates in the following biological processes:
    • brain development ^{[1, 4]}
    • camera-type eye development ^{[1, 4]}
    • cerebellum development ^[1]
    • cilium assembly ^[4]
    • cilium morphogenesis ^[2]
    • corpus callosum development ^[1]
    • determination of left/right symmetry ^[4]
    • embryonic forelimb morphogenesis ^[4]
    • embryonic hindlimb morphogenesis ^[4]
    • establishment or maintenance of cell polarity ^[2]
    • head development ^[4]
    • in utero embryonic development ^[4]
    • kidney development ^[1]
    • lateral ventricle development ^[1]
    • limb morphogenesis ^[1]
    • liver development ^[1]
    • neural tube patterning ^[4]
    • nose development ^[4]
    • olfactory bulb development ^[1]
    • pericardium development ^[4]
    • regulation of smoothened signaling pathway ^[4]
    • telencephalon development ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Rpgrip1l:
  • participates in the following biological processes:
    • negative regulation of G-protein coupled receptor protein signaling pathway
  • performs the following molecular functions:
    • thromboxane A2 receptor binding
  • is located in the following cellular components:
    • cell-cell junction
    • centrosome
    • cilium
    • cilium axoneme
    • cytoplasm
    • microtubule basal body

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Rpgrip1l indicates that it:
  • is located in the following cellular components:
    • cell junction
    • cell projection
    • cytoskeleton
    • tight junction

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References

1. Delous M et al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet, 39:875-81. (PubMed:17558409)
2. Ghosh AK et al. (2012) 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. Am J Physiol Renal Physiol, 303:F1225-9. (PubMed:22832925)
3. Sang L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell, 145:513-28. (PubMed:21565611)
4. Vierkotten J et al. (2007) Ftm is a novel basal body protein of cilia involved in Shh signalling. Development, 134:2569-77. (PubMed:17553904)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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