CLCN3

Protein-coding gene in the species Homo sapiens
CLCN3
Identifiers
AliasesCLCN3, CLC3, ClC-3, chloride voltage-gated channel 3, NEDSBA, NEDHYBA
External IDsOMIM: 600580 MGI: 103555 HomoloGene: 20435 GeneCards: CLCN3
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for CLCN3
Genomic location for CLCN3
Band4q33Start169,612,633 bp[1]
End169,723,673 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for CLCN3
Genomic location for CLCN3
Band8 B3.1|8 30.9 cMStart61,363,423 bp[2]
End61,436,334 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • endothelial cell

  • Brodmann area 46

  • retinal pigment epithelium

  • postcentral gyrus

  • islet of Langerhans

  • parotid gland

  • right ventricle

  • superior vestibular nucleus

  • Region I of hippocampus proper

  • pons
Top expressed in
  • mammillary body

  • ventromedial nucleus

  • lateral geniculate nucleus

  • lateral hypothalamus

  • cingulate gyrus

  • paraventricular nucleus of hypothalamus

  • subiculum

  • dorsal tegmental nucleus

  • arcuate nucleus

  • medial geniculate nucleus
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • nucleotide binding
  • volume-sensitive chloride channel activity
  • PDZ domain binding
  • protein homodimerization activity
  • ion channel activity
  • protein binding
  • protein heterodimerization activity
  • antiporter activity
  • ATP binding
  • chloride channel activity
  • voltage-gated chloride channel activity
  • solute:proton antiporter activity
  • chloride ion binding
Cellular component
  • integral component of membrane
  • endosome
  • late endosome
  • Golgi apparatus
  • early endosome membrane
  • membrane
  • late endosome membrane
  • synaptic vesicle
  • vesicle membrane
  • Golgi membrane
  • plasma membrane
  • transport vesicle membrane
  • secretory granule
  • cell surface
  • early endosome
  • specific granule
  • phagocytic vesicle
  • external side of plasma membrane
  • cytoplasmic vesicle
  • integral component of plasma membrane
Biological process
  • negative regulation of cell volume
  • endosomal lumen acidification
  • ion transport
  • regulation of anion transmembrane transport
  • chloride transport
  • regulation of pH
  • chloride transmembrane transport
  • regulation of anion transport
  • transmembrane transport
  • transport
  • synaptic vesicle lumen acidification
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1182

12725

Ensembl

ENSG00000109572

ENSMUSG00000004319

UniProt

P51790

P51791

RefSeq (mRNA)

NM_001243372
NM_001243374
NM_001829
NM_173872

NM_007711
NM_173873
NM_173874
NM_173876

RefSeq (protein)

NP_001230301
NP_001230303
NP_001820
NP_776297

NP_031737
NP_776298
NP_776299
NP_776301

Location (UCSC)Chr 4: 169.61 – 169.72 MbChr 8: 61.36 – 61.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

H+/Cl− exchange transporter 3 is a protein that in humans is encoded by the CLCN3 gene.[5]

Interactions

CLCN3 has been shown to interact with PDZK1.[6]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000109572 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004319 – 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.
  5. ^ "Entrez Gene: CLCN3 chloride channel 3".
  6. ^ Gentzsch M, Cui L, Mengos A, Chang XB, Chen JH, Riordan JR (Feb 2003). "The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins". J. Biol. Chem. 278 (8): 6440–9. doi:10.1074/jbc.M211050200. PMID 12471024.

Further reading

  • Borsani G, Rugarli EI, Taglialatela M, Wong C, Ballabio A (1995). "Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein". Genomics. 27 (1): 131–41. doi:10.1006/geno.1995.1015. PMID 7665160.
  • Taine L, Coupry I, Boisseau P, Saura R, Lacombe D, Arveiler B (1998). "Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33". Hum. Genet. 102 (2): 178–81. doi:10.1007/s004390050673. PMID 9521585. S2CID 22138203.
  • Shepard AR, Rae JL (1998). "Ion transporters and receptors in cDNA libraries from lens and cornea epithelia". Curr. Eye Res. 17 (7): 708–19. doi:10.1080/02713689808951247. PMID 9678416.
  • Loo MA, Jensen TJ, Cui L, Hou Y, Chang XB, Riordan JR (1998). "Perturbation of Hsp90 interaction with nascent CFTR prevents its maturation and accelerates its degradation by the proteasome". EMBO J. 17 (23): 6879–87. doi:10.1093/emboj/17.23.6879. PMC 1171036. PMID 9843494.
  • Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC (1999). "Expression of CLCN voltage-gated chloride channel genes in human blood vessels". J. Mol. Cell. Cardiol. 31 (3): 657–66. doi:10.1006/jmcc.1998.0901. PMID 10198195.
  • Hartley JL, Temple GF, Brasch MA (2000). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
  • Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
  • Huang P, Liu J, Di A, Robinson NC, Musch MW, Kaetzel MA, Nelson DJ (2001). "Regulation of human CLC-3 channels by multifunctional Ca2+/calmodulin-dependent protein kinase". J. Biol. Chem. 276 (23): 20093–100. doi:10.1074/jbc.M009376200. PMID 11274166.
  • Lamb FS, Graeff RW, Clayton GH, Smith RL, Schutte BC, McCray PB (2001). "Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium". Am. J. Respir. Cell Mol. Biol. 24 (4): 376–81. doi:10.1165/ajrcmb.24.4.4114. PMID 11306429.
  • Ogura T, Furukawa T, Toyozaki T, Yamada K, Zheng YJ, Katayama Y, Nakaya H, Inagaki N (2002). "ClC-3B, a novel ClC-3 splicing variant that interacts with EBP50 and facilitates expression of CFTR-regulated ORCC". FASEB J. 16 (8): 863–5. doi:10.1096/fj.01-0845fje. PMID 11967229. S2CID 33470444.
  • Hermoso M, Satterwhite CM, Andrade YN, Hidalgo J, Wilson SM, Horowitz B, Hume JR (2002). "ClC-3 is a fundamental molecular component of volume-sensitive outwardly rectifying Cl- channels and volume regulation in HeLa cells and Xenopus laevis oocytes". J. Biol. Chem. 277 (42): 40066–74. doi:10.1074/jbc.M205132200. PMID 12183454.
  • Gentzsch M, Cui L, Mengos A, Chang XB, Chen JH, Riordan JR (2003). "The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins". J. Biol. Chem. 278 (8): 6440–9. doi:10.1074/jbc.M211050200. PMID 12471024.
  • Jin NG, Kim JK, Yang DK, Cho SJ, Kim JM, Koh EJ, Jung HC, So I, Kim KW (2003). "Fundamental role of ClC-3 in volume-sensitive Cl- channel function and cell volume regulation in AGS cells". Am. J. Physiol. Gastrointest. Liver Physiol. 285 (5): G938-48. doi:10.1152/ajpgi.00470.2002. PMID 12842831. S2CID 326508.
  • Olsen ML, Schade S, Lyons SA, Amaral MD, Sontheimer H (2003). "Expression of voltage-gated chloride channels in human glioma cells". J. Neurosci. 23 (13): 5572–82. doi:10.1523/JNEUROSCI.23-13-05572.2003. PMC 6741216. PMID 12843258.
  • Salazar G, Love R, Styers ML, Werner E, Peden A, Rodriguez S, Gearing M, Wainer BH, Faundez V (2004). "AP-3-dependent mechanisms control the targeting of a chloride channel (ClC-3) in neuronal and non-neuronal cells". J. Biol. Chem. 279 (24): 25430–9. doi:10.1074/jbc.M402331200. PMID 15073168.
  • Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
  • Zhou JG, Ren JL, Qiu QY, He H, Guan YY (2005). "Regulation of intracellular Cl- concentration through volume-regulated ClC-3 chloride channels in A10 vascular smooth muscle cells". J. Biol. Chem. 280 (8): 7301–8. doi:10.1074/jbc.M412813200. PMID 15596438.
  • Yeung CH, Barfield JP, Cooper TG (2005). "Chloride channels in physiological volume regulation of human spermatozoa". Biol. Reprod. 73 (5): 1057–63. doi:10.1095/biolreprod.105.044123. PMID 16033995.
  • Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

  • v
  • t
  • e
Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl−: Chloride channel
H+: Proton channel
M+: CNG cation channel
M+: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders


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