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

GO curators for mouse genes have assigned the following annotations to the gene product of Efhc1. (This text reflects annotations as of Wednesday, January 23, 2013.)

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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 an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

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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 Efhc1
  • is located in the following cellular components:
    • axoneme ^[1]
    • cilium ^[1]
    • flagellum ^[1]
    • neuronal cell body ^[2]
• Researchers have inferred, based on physical interactions, that the gene product of Efhc1
  • performs the following molecular functions:
    • protein C-terminus binding ^[2]

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Summary text based on GO annotations supported by structural data

• Efhc1 encodes a protein or proteins that contain the following InterPro domains: EF-HAND 2, EF-hand-like domain, Protein of unknown function DUF1126, Uncharacterised domain DM10, indicating that the gene product:
  • performs the following molecular functions:
    • calcium ion binding

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References

1. Ikeda T et al. (2005) The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella. FEBS Lett, 579:819-22. (PubMed:15670853)
2. Suzuki T et al. (2004) Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet, 36:842-9. (PubMed:15258581)

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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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