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

GO curators for mouse genes have assigned the following annotations to the gene product of Cacna1s. (This text reflects annotations as of Tuesday, July 8, 2014.)

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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 one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [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 Cacna1s
  • participates in the following biological processes:
    • calcium ion transport ^[]
    • muscle contraction ^[]
    • skeletal muscle fiber development ^[]
  • performs the following molecular functions:
    • voltage-gated calcium channel activity ^[]
  • is located in the following cellular components:
    • sarcoplasmic reticulum ^{[, , ]}
    • T-tubule ^{[, , ]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Cacna1s
  • participates in the following biological processes:
    • calcium ion transmembrane transport ^[]
    • calcium ion transport ^{[, , ]}
    • endoplasmic reticulum organization ^[]
    • extraocular skeletal muscle development ^[]
    • muscle cell development ^[]
    • muscle contraction ^{[, , ]}
    • myoblast fusion ^[]
    • neuromuscular junction development ^{[, , ]}
    • regulation of ion transmembrane transport ^[]
    • skeletal muscle adaptation ^[]
    • skeletal muscle fiber development ^{[, ]}
    • skeletal muscle tissue development ^{[, , , ]}
    • skeletal system development ^[]
    • striated muscle contraction ^[]
  • performs the following molecular functions:
    • voltage-gated calcium channel activity ^[]

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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 Cacna1s:
  • participates in the following biological processes:
    • calcium ion import
    • calcium ion transport
    • membrane depolarization during action potential
    • muscle contraction
  • performs the following molecular functions:
    • high voltage-gated calcium channel activity
    • voltage-gated calcium channel activity
  • is located in the following cellular components:
    • cytoplasm
    • I band
    • plasma membrane
    • sarcolemma
    • T-tubule
    • voltage-gated calcium channel complex

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Summary text based on GO annotations supported by structural data

• Cacna1s encodes a protein or proteins that contain the following InterPro domains: indicating that the gene product:
  • participates in the following biological processes:
    • ion transport
    • transmembrane transport
  • performs the following molecular functions:
    • ion channel activity
  • is located in the following cellular components:
    • membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Cacna1s indicates that it:
  • participates in the following biological processes:
    • ion transport
    • transport
  • performs the following molecular functions:
    • calcium channel activity
    • metal ion binding
    • voltage-gated ion channel activity
  • is located in the following cellular components:
    • integral component of membrane
    • membrane

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References

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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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