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

GO curators for mouse genes have assigned the following annotations to the gene product of Gjb1. (This text reflects annotations as of Thursday, July 24, 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 a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 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 Gjb1
  • performs the following molecular functions:
    • protein homodimerization activity ^[1]
  • is located in the following cellular components:
    • cytoplasm ^[2]
    • gap junction ^[2]
    • plasma membrane ^[3]

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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 Gjb1:
  • participates in the following biological processes:
    • protein oligomerization
    • purine ribonucleotide transport
    • transmembrane transport
  • performs the following molecular functions:
    • gap junction channel activity
  • is located in the following cellular components:
    • endoplasmic reticulum
    • gap junction
    • plasma membrane

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Summary text based on GO annotations supported by structural data

• Gjb1 encodes a protein or proteins that contain the following InterPro domains: Connexin, Connexin, conserved site, Connexin, N-terminal, Gap junction beta-1 protein (Cx32), Gap junction protein, cysteine-rich domain, indicating that the gene product:
  • participates in the following biological processes:
    • cell communication
  • is located in the following cellular components:
    • connexon complex

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Gjb1 indicates that it:
  • is located in the following cellular components:
    • cell junction
    • integral component of membrane
    • membrane

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References

1. Parenti R et al. (2010) Dynamic expression of Cx47 in mouse brain development and in the cuprizone model of myelin plasticity. Glia, 58:1594-609. (PubMed:20578039)
2. Plante I et al. (2010) Milk secretion and ejection are impaired in the mammary gland of mice harboring a Cx43 mutant while expression and localization of tight and adherens junction proteins remain unchanged. Biol Reprod, 82:837-47. (PubMed:20089884)
3. Rukstalis JM et al. (2003) Exocrine specific expression of Connexin32 is dependent on the basic helix-loop-helix transcription factor Mist1. J Cell Sci, 116:3315-25. (PubMed:12829745)

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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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