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

GO curators for mouse genes have assigned the following annotations to the gene product of Gja5. (This text reflects annotations as of Tuesday, May 21, 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 is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [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 Gja5
  • is located in the following cellular components:
    • gap junction ^[6]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Gja5
  • participates in the following biological processes:
    • artery morphogenesis ^[2]
    • atrial septum morphogenesis ^[5]
    • atrial ventricular junction remodeling ^[5]
    • AV node cell to bundle of His cell communication ^[12]
    • blood vessel development ^[11]
    • cardiac conduction ^{[5, 6, 7, 9, 12]}
    • cardiac conduction system development ^{[4, 7]}
    • cell communication by electrical coupling involved in cardiac conduction ^[1]
    • cell communication involved in cardiac conduction ^[3]
    • embryonic heart tube development ^{[4, 10]}
    • embryonic limb morphogenesis ^[8]
    • foramen ovale closure ^[5]
    • regulation of atrial cardiac muscle cell membrane depolarization ^{[5, 6, 12]}
    • regulation of heart rate by cardiac conduction ^[1]
    • regulation of membrane depolarization involved in regulation of cardiac muscle cell action potential ^[6]
    • regulation of renin secretion into blood stream ^[13]
    • regulation of SA node cell action potential ^[1]
    • regulation of systemic arterial blood pressure ^[3]
    • regulation of vasodilation ^[3]
    • regulation of ventricular cardiac muscle cell action potential ^[6]
    • regulation of ventricular cardiac muscle cell membrane depolarization ^{[6, 12]}
    • regulation of ventricular cardiac muscle cell membrane repolarization ^[5]
    • renal system process involved in regulation of systemic arterial blood pressure ^[13]
    • septum primum development ^[5]
    • skeletal system development ^[8]
    • ventricular septum morphogenesis ^[5]
• Researchers have inferred, based on genetic interactions, that the gene product of Gja5
  • participates in the following biological processes:
    • regulation of ventricular cardiac muscle cell membrane depolarization based on interactions with Gja1 ^[5]
    • regulation of ventricular cardiac muscle cell membrane repolarization based on interactions with Gja1 ^[5]

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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 Gja5:
  • participates in the following biological processes:
    • atrial septum development
    • AV node cell to bundle of His cell communication by electrical coupling
    • bundle of His cell to Purkinje myocyte communication
    • cell communication by chemical coupling
    • cell communication by electrical coupling
    • cell communication by electrical coupling involved in cardiac conduction
    • gap junction assembly
    • mitral valve development
    • negative regulation of blood pressure
    • negative regulation of glomerular filtration
    • outflow tract morphogenesis
    • positive regulation of cell communication by chemical coupling
    • positive regulation of vasoconstriction
    • positive regulation of vasodilation
    • potassium ion transport
    • protein oligomerization
    • pulmonary valve formation
    • regulation of atrial cardiac muscle cell action potential
    • regulation of atrial cardiac muscle cell membrane depolarization
    • regulation of cardiac muscle contraction
    • vasomotion
    • ventricular septum development
  • performs the following molecular functions:
    • connexin binding
    • gap junction channel activity
    • gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling
    • gap junction channel activity involved in cardiac conduction electrical coupling
    • gap junction hemi-channel activity
  • is located in the following cellular components:
    • cell projection
    • connexon complex
    • gap junction
    • integral to plasma membrane
    • intercalated disc

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Summary text based on GO annotations supported by structural data

• Gja5 encodes a protein or proteins that contain the following InterPro domains: Connexin, Connexin, conserved site, Connexin, N-terminal, Gap junction alpha-5 protein (Cx40), Gap junction protein, cysteine-rich domain, indicating that the gene product:
  • participates in the following biological processes:
    • cell communication

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Gja5 indicates that it:
  • is located in the following cellular components:
    • cell junction
    • integral to membrane
    • membrane
    • plasma membrane

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References

1. Bevilacqua LM et al. (2000) A targeted disruption in connexin40 leads to distinct atrioventricular conduction defects. J Interv Card Electrophysiol, 4:459-67. (PubMed:11046183)
2. Buschmann I et al. (2010) Pulsatile shear and Gja5 modulate arterial identity and remodeling events during flow-driven arteriogenesis. Development, 137:2187-96. (PubMed:20530546)
3. de Wit C et al. (2000) Impaired conduction of vasodilation along arterioles in connexin40-deficient mice. Circ Res, 86:649-55. (PubMed:10747000)
4. Frank DU et al. (2011) Lethal arrhythmias in Tbx3-deficient mice reveal extreme dosage sensitivity of cardiac conduction system function and homeostasis. Proc Natl Acad Sci U S A, null:null. (PubMed:22203979)
5. Kirchhoff S et al. (2000) Abnormal cardiac conduction and morphogenesis in connexin40 and connexin43 double-deficient mice. Circ Res, 87:399-405. (PubMed:10969038)
6. Kirchhoff S et al. (1998) Reduced cardiac conduction velocity and predisposition to arrhythmias in connexin40-deficient mice. Curr Biol, 8:299-302. (PubMed:9501070)
7. Leaf DE et al. (2008) Connexin40 imparts conduction heterogeneity to atrial tissue. Circ Res, 103:1001-8. (PubMed:18599871)
8. Pizard A et al. (2005) Connexin 40, a target of transcription factor Tbx5, patterns wrist, digits, and sternum. Mol Cell Biol, 25:5073-83. (PubMed:15923624)
9. Simon AM et al. (1998) Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block. Curr Biol, 8:295-8. (PubMed:9501069)
10. Simon AM et al. (2004) Heart and head defects in mice lacking pairs of connexins. Dev Biol, 265:369-83. (PubMed:14732399)
11. Simon AM et al. (2002) Vascular Abnormalities in Mice Lacking the Endothelial Gap Junction Proteins connexin37 and connexin40. Dev Biol, 251:206-20. (PubMed:12435353)
12. Verheule S et al. (1999) Cardiac conduction abnormalities in mice lacking the gap junction protein connexin40. J Cardiovasc Electrophysiol, 10:1380-9. (PubMed:10515563)
13. Wagner C et al. (2007) Connexin40 is essential for the pressure control of renin synthesis and secretion. Circ Res, 100:556-63. (PubMed:17255527)

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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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