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1.A.24.1.7
Connexin 30 complex (connexin30.2/connexin31.3 (CX30.2/CX31.3)). Also called connexinΥ3/GJC3/GJε1; 279 aas, encoded by the GJB6 (13q12) gene (Cascella et al. 2016)). ATP is released from cells that stably expressed CX30.2 in a medium with low calcium, suggesting a hemichannel-based function. Liang et al. (2011) suggested that it shares functional properties with pannexin hemichannels rather than gap junction channels.  Defects cause nonsyndromic hypoacusia (hearing loss) due to partial loss of channel activity (Su et al. 2012; Su et al. 2013;  Cascella et al. 2016).  Cx30, but not Cx43, hemichannels close upon protein kinase C activation, showing that connexin hemichannels display not only isoform-specific permeability profiles but also isoform-specific regulation by PKC (Alstrom et al. 2015). The W77S mutant has a dominant negative effect on the formation and function of the gap junction and is probably responsible for hearing loss (Wong et al. 2017).

Accession Number:Q8NFK1
Protein Name:Gap junction gamma-3 protein
Length:279
Molecular Weight:31299.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:4
Location1 / Topology2 / Orientation3: Cell membrane1 / Multi-pass membrane protein2
Substrate small molecules

Cross database links:

Genevestigator: Q8NFK1
eggNOG: NOG42371
HEGENOM: HBG717760
Entrez Gene ID: 349149   
Pfam: PF00029    PF10582   
KEGG: hsa:349149   

Gene Ontology

GO:0005922 C:connexon complex
GO:0016021 C:integral to membrane

References (4)

[1] “Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.”  Altevogt B.M.et.al.   12151525
[2] “Human chromosome 7: DNA sequence and biology.”  Scherer S.W.et.al.   12690205
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues.”  Soehl G.et.al.   12881038

External Searches:

  • Search: DB with
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  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MCGRFLRRLL AEESRRSTPV GRLLLPVLLG FRLVLLAASG PGVYGDEQSE FVCHTQQPGC 
61:	KAACFDAFHP LSPLRFWVFQ VILVAVPSAL YMGFTLYHVI WHWELSGKGK EEETLIQGRE 
121:	GNTDVPGAGS LRLLWAYVAQ LGARLVLEGA ALGLQYHLYG FQMPSSFACR REPCLGSITC 
181:	NLSRPSEKTI FLKTMFGVSG FCLLFTFLEL VLLGLGRWWR TWKHKSSSSK YFLTSESTRR 
241:	HKKATDSLPV VETKEQFQEA VPGRSLAQEK QRPVGPRDA