VDAC3

VDAC3
Identifiers
Aliases	VDAC3, HD-VDAC-3, voltage dependent anion channel 3
External IDs	OMIM: 610029; MGI: 106922; HomoloGene: 36115; GeneCards: VDAC3; OMA:VDAC3 - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	42,405,937 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	23,083,829 bp
RNA expression pattern
	Top expressed in
	Brodmann area 23; ; sperm; ; endothelial cell; ; pancreatic ductal cell; ; epithelium of nasopharynx; ; Skeletal muscle tissue of rectus abdominis; ; body of tongue; ; vastus lateralis muscle; ; lateral nuclear group of thalamus; ; pars compacta;
	Top expressed in
	spermatid; ; quadriceps femoris muscle; ; spermatocyte; ; muscle of thigh; ; skeletal muscle tissue; ; neural tube; ; heart; ; mesencephalon; ; hypothalamus; ; ventricular zone;
	More reference expression data
	n/a
Gene ontology
Molecular function	porin activity; nucleotide binding; voltage-gated anion channel activity; protein binding;
Cellular component	integral component of membrane; mitochondrial outer membrane; extracellular exosome; pore complex; nucleus; membrane; mitochondrion; mitochondrial inner membrane;
Biological process	regulation of cilium assembly; adenine transport; ion transport; transmembrane transport; regulation of anion transmembrane transport; anion transmembrane transport; behavioral fear response; chemical synaptic transmission; neuron-neuron synaptic transmission; learning; transport; inorganic anion transport;
	Sources:Amigo / QuickGO
Orthologs
	7419
	22335
	ENSG00000078668
	ENSMUSG00000008892
	Q9Y277
	Q60931
	NM_001135694; NM_005662
	NM_001198998; NM_011696
	NP_001129166; NP_005653
	NP_001185927; NP_035826
	Wikidata
View/Edit Human	View/Edit Mouse

Voltage-dependent anion-selective channel protein 3 (VDAC3) is a protein that in humans is encoded by the VDAC3 gene on chromosome 8. ^[5]^[6] The protein encoded by this gene is a voltage-dependent anion channel and shares high structural homology with the other VDAC isoforms.^[5]^[6]^[7] Nonetheless, VDAC3 demonstrates limited pore-forming ability and, instead, interacts with other proteins to perform its biological functions, including sperm flagella assembly and centriole assembly.^[8]^[9] Mutations in VDAC3 have been linked to male infertility, as well as Parkinson's disease.^[10]^[11]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000078668 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000008892 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ, Chen Z (Jul 1998). "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning". Proceedings of the National Academy of Sciences of the United States of America. 95 (14): 8175–80. Bibcode:1998PNAS...95.8175M. doi:10.1073/pnas.95.14.8175. PMC 20949. PMID 9653160.
^ ^a ^b Rahmani Z, Maunoury C, Siddiqui A (Nov 1998). "Isolation of a novel human voltage-dependent anion channel gene". European Journal of Human Genetics. 6 (4): 337–40. doi:10.1038/sj.ejhg.5200198. PMID 9781040.
^ Amodeo GF, Scorciapino MA, Messina A, De Pinto V, Ceccarelli M (2014). "Charged residues distribution modulates selectivity of the open state of human isoforms of the voltage dependent anion-selective channel". PLOS ONE. 9 (8): e103879. Bibcode:2014PLoSO...9j3879A. doi:10.1371/journal.pone.0103879. PMC 4146382. PMID 25084457.
^ Majumder S, Slabodnick M, Pike A, Marquardt J, Fisk HA (Oct 2012). "VDAC3 regulates centriole assembly by targeting Mps1 to centrosomes". Cell Cycle. 11 (19): 3666–78. doi:10.4161/cc.21927. PMC 3478317. PMID 22935710.
^ Majumder S, Fisk HA (Mar 2013). "VDAC3 and Mps1 negatively regulate ciliogenesis". Cell Cycle. 12 (5): 849–58. doi:10.4161/cc.23824. PMC 3610733. PMID 23388454.
^ Reina S, Palermo V, Guarnera A, Guarino F, Messina A, Mazzoni C, De Pinto V (Jul 2010). "Swapping of the N-terminus of VDAC1 with VDAC3 restores full activity of the channel and confers anti-aging features to the cell". FEBS Letters. 584 (13): 2837–44. Bibcode:2010FEBSL.584.2837R. doi:10.1016/j.febslet.2010.04.066. hdl:11573/126366. PMID 20434446. S2CID 22130291.
^ Sun Y, Vashisht AA, Tchieu J, Wohlschlegel JA, Dreier L (Nov 2012). "Voltage-dependent anion channels (VDACs) recruit Parkin to defective mitochondria to promote mitochondrial autophagy". The Journal of Biological Chemistry. 287 (48): 40652–60. doi:10.1074/jbc.M112.419721. PMC 3504778. PMID 23060438.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000078668 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000008892 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmidpmid9653160-5] Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ, Chen Z (Jul 1998). "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning". Proceedings of the National Academy of Sciences of the United States of America. 95 (14): 8175–80. Bibcode:1998PNAS...95.8175M. doi:10.1073/pnas.95.14.8175. PMC 20949. PMID 9653160.

[pmidpmid9781040-6] Rahmani Z, Maunoury C, Siddiqui A (Nov 1998). "Isolation of a novel human voltage-dependent anion channel gene". European Journal of Human Genetics. 6 (4): 337–40. doi:10.1038/sj.ejhg.5200198. PMID 9781040.

[pmid25084457-7] Amodeo GF, Scorciapino MA, Messina A, De Pinto V, Ceccarelli M (2014). "Charged residues distribution modulates selectivity of the open state of human isoforms of the voltage dependent anion-selective channel". PLOS ONE. 9 (8): e103879. Bibcode:2014PLoSO...9j3879A. doi:10.1371/journal.pone.0103879. PMC 4146382. PMID 25084457.

[pmid22935710-8] Majumder S, Slabodnick M, Pike A, Marquardt J, Fisk HA (Oct 2012). "VDAC3 regulates centriole assembly by targeting Mps1 to centrosomes". Cell Cycle. 11 (19): 3666–78. doi:10.4161/cc.21927. PMC 3478317. PMID 22935710.

[pmid23388454-9] Majumder S, Fisk HA (Mar 2013). "VDAC3 and Mps1 negatively regulate ciliogenesis". Cell Cycle. 12 (5): 849–58. doi:10.4161/cc.23824. PMC 3610733. PMID 23388454.

[pmid20434446-10] Reina S, Palermo V, Guarnera A, Guarino F, Messina A, Mazzoni C, De Pinto V (Jul 2010). "Swapping of the N-terminus of VDAC1 with VDAC3 restores full activity of the channel and confers anti-aging features to the cell". FEBS Letters. 584 (13): 2837–44. Bibcode:2010FEBSL.584.2837R. doi:10.1016/j.febslet.2010.04.066. hdl:11573/126366. PMID 20434446. S2CID 22130291.

[pmid23060438-11] Sun Y, Vashisht AA, Tchieu J, Wohlschlegel JA, Dreier L (Nov 2012). "Voltage-dependent anion channels (VDACs) recruit Parkin to defective mitochondria to promote mitochondrial autophagy". The Journal of Biological Chemistry. 287 (48): 40652–60. doi:10.1074/jbc.M112.419721. PMC 3504778. PMID 23060438.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]