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

GO curators for mouse genes have assigned the following annotations to the gene product of Iqcb1. (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 February 9, 2010. 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.] This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

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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 Iqcb1
  • is located in the following cellular components:
    • photoreceptor connecting cilium ^[1]
    • photoreceptor outer segment ^[1]
• The gene product of Iqcb1 has been shown to bind to the gene products of Atxn10, Cep290, Invs, Rpgrip1l. ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Iqcb1
  • participates in the following biological processes:
    • cilium assembly ^[2]

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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 Iqcb1:
  • participates in the following biological processes:
    • maintenance of organ identity
    • photoreceptor cell maintenance
  • performs the following molecular functions:
    • calmodulin binding
  • is located in the following cellular components:
    • centrosome
    • photoreceptor connecting cilium

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Iqcb1 indicates that it:
  • is located in the following cellular components:
    • cytoplasm
    • cytoskeleton

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References

1. Otto EA et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet, 37:282-8. (PubMed:15723066)
2. Sang L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell, 145:513-28. (PubMed:21565611)

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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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