Gene Symbol: Cacna1f
Description: calcium channel, voltage-dependent, alpha 1F subunit
Alias: A930034B14, Cav1.4, Sfc17, nerg1, nob2, voltage-dependent L-type calcium channel subunit alpha-1F, L-type dihydropyridine-sensitive calcium channel alpha-1f subunit, voltage-gated calcium channel subunit alpha Cav1.4
Species: mouse
Products:     Cacna1f

Top Publications

  1. Wahl Schott C, Baumann L, Cuny H, Eckert C, Griessmeier K, Biel M. Switching off calcium-dependent inactivation in L-type calcium channels by an autoinhibitory domain. Proc Natl Acad Sci U S A. 2006;103:15657-62 pubmed
    ..This finding suggests that autoinhibition of CDI can be introduced principally into other Ca2+ channel types. Our data provide a previously undescribed perspective on the regulation of HVA calcium channels by Ca2+. ..
  2. Zabouri N, Haverkamp S. Calcium channel-dependent molecular maturation of photoreceptor synapses. PLoS ONE. 2013;8:e63853 pubmed publisher
    ..Overall we present evidence that in the absence of the Ca(V)1.4 channel, photoreceptor synapses remain immature and are unable to stabilize. ..
  3. Shaltiel L, Paparizos C, Fenske S, Hassan S, Gruner C, Rötzer K, et al. Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4). J Biol Chem. 2012;287:36312-21 pubmed publisher
    ..In conclusion, our study sheds new light on the functional interaction between CaBP4 and Cav1.4. Moreover, it provides insights into the mechanism by which CaBP4 mutants lead to loss of Cav1.4 function and to retinal disease. ..
  4. Chang B, Heckenlively J, Bayley P, Brecha N, Davisson M, Hawes N, et al. The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci. 2006;23:11-24 pubmed
    ..In humans, mutations in the Cacna1f gene, encoding the alpha1F subunit of VDCCs, underlie the incomplete form of X-linked congenital stationary night ..
  5. Schlick B, Flucher B, Obermair G. Voltage-activated calcium channel expression profiles in mouse brain and cultured hippocampal neurons. Neuroscience. 2010;167:786-98 pubmed publisher
    ..Developmental changes are likely determined by an intrinsic program and not regulated by changes in neuronal activity. ..
  6. Raven M, Orton N, Nassar H, Williams G, Stell W, Jacobs G, et al. Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology. J Comp Neurol. 2008;506:745-58 pubmed
    ..Individually labeled horizontal cells from dark-reared mice, as well as from mice carrying a mutation in the Cacna1f gene, which encodes the pore-forming calcium channel subunit Ca(v)1...
  7. Mansergh F, Orton N, Vessey J, Lalonde M, Stell W, Tremblay F, et al. Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. Hum Mol Genet. 2005;14:3035-46 pubmed
    ..For example, mutations in the calcium channel subunit gene CACNA1F cause incomplete X-linked congenital stationary night blindness (CSNB2 or iCSNB), a human retinal disorder with ..
  8. Haeseleer F, Imanishi Y, Maeda T, Possin D, Maeda A, Lee A, et al. Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function. Nat Neurosci. 2004;7:1079-87 pubmed
    ..These observations indicate that CaBP4 is important for normal synaptic function, probably through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals. ..
  9. Morgans C, Bayley P, Oesch N, Ren G, Akileswaran L, Taylor W. Photoreceptor calcium channels: insight from night blindness. Vis Neurosci. 2005;22:561-8 pubmed
    The genetic locus for incomplete congenital stationary night blindness (CSNB2) has been identified as the CACNA1f gene, encoding the alpha 1F calcium channel subunit, a member of the L-type family of calcium channels...

More Information


  1. Specht D, Wu S, Turner P, Dearden P, Koentgen F, Wolfrum U, et al. Effects of presynaptic mutations on a postsynaptic Cacna1s calcium channel colocalized with mGluR6 at mouse photoreceptor ribbon synapses. Invest Ophthalmol Vis Sci. 2009;50:505-15 pubmed publisher
    ..b-wave), arising from mutations of presynaptic proteins, such as Bassoon and the VDCCalpha1 subunit Cacna1f, have been shown to altered transmitter release...
  2. Doering C, Rehak R, Bonfield S, Peloquin J, Stell W, Mema S, et al. Modified Ca(v)1.4 expression in the Cacna1f(nob2) mouse due to alternative splicing of an ETn inserted in exon 2. PLoS ONE. 2008;3:e2538 pubmed publisher
    The Cacna1f(nob2) mouse is reported to be a naturally occurring null mutation for the Ca(v)1.4 calcium channel gene and the phenotype of this mouse is not identical to that of the targeted gene knockout model...
  3. Lodha N, Bonfield S, Orton N, Doering C, McRory J, Mema S, et al. Congenital stationary night blindness in mice - a tale of two Cacna1f mutants. Adv Exp Med Biol. 2010;664:549-58 pubmed publisher
    Mutations in CACNA1F, which encodes the Ca(v)1...
  4. Bayley P, Morgans C. Rod bipolar cells and horizontal cells form displaced synaptic contacts with rods in the outer nuclear layer of the nob2 retina. J Comp Neurol. 2007;500:286-98 pubmed
    The nob2 mouse carries a null mutation in the Cacna1f gene, which encodes the pore-forming subunit of the L-type calcium channel, Ca(v)1.4...
  5. Xing W, Akopian A, Krizaj D. Trafficking of presynaptic PMCA signaling complexes in mouse photoreceptors requires Cav1.4 ?1 subunits. Adv Exp Med Biol. 2012;723:739-44 pubmed publisher
  6. Liu X, Kerov V, Haeseleer F, Majumder A, Artemyev N, Baker S, et al. Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2. Channels (Austin). 2013;7:514-23 pubmed publisher
    Mutations in the gene encoding Cav 1.4, CACNA1F, are associated with visual disorders including X-linked incomplete congenital stationary night blindness type 2 (CSNB2). In mice lacking Cav 1...
  7. Schön C, Paquet Durand F, Michalakis S. Cav1.4 L-Type Calcium Channels Contribute to Calpain Activation in Degenerating Photoreceptors of rd1 Mice. PLoS ONE. 2016;11:e0156974 pubmed publisher
    ..In this study, we crossbred rd1 mice with the Cacna1f-deficient mouse lacking the Cav1.4 ?1 subunit of the L-type VGCC...
  8. Wang Y, Fehlhaber K, Sarria I, Cao Y, Ingram N, Guerrero Given D, et al. The Auxiliary Calcium Channel Subunit α2δ4 Is Required for Axonal Elaboration, Synaptic Transmission, and Wiring of Rod Photoreceptors. Neuron. 2017;93:1359-1374.e6 pubmed publisher
    ..4 function, but is not required for ribbon organization, synaptogenesis, or synaptic transmission. These findings offer insights into retinal pathologies associated with α2δ4 dysfunction. ..
  9. Peachey N, Hasan N, FitzMaurice B, Burrill S, Pangeni G, Karst S, et al. A missense mutation in Grm6 reduces but does not eliminate mGluR6 expression or rod depolarizing bipolar cell function. J Neurophysiol. 2017;118:845-854 pubmed publisher
  10. Omilusik K, Priatel J, Chen X, Wang Y, Xu H, Choi K, et al. The Ca(v)1.4 calcium channel is a critical regulator of T cell receptor signaling and naive T cell homeostasis. Immunity. 2011;35:349-60 pubmed publisher
    ..Collectively, these studies revealed that Ca(V)1.4 functions in controlling naive T cell homeostasis and antigen-driven T cell immune responses. ..
  11. Yu M, Peachey N. Attenuation of oscillatory potentials in nob2 mice. Doc Ophthalmol. 2007;115:173-86 pubmed
    To examine changes in inner retinal function of nob2 mice, expressing a null mutation in Cacna1f encoding the Ca(V)1.4 subunit of voltage-dependent calcium channels...
  12. Lee A, Wang S, Williams B, Hagen J, Scheetz T, Haeseleer F. Characterization of Cav1.4 complexes (α11.4, β2, and α2δ4) in HEK293T cells and in the retina. J Biol Chem. 2015;290:1505-21 pubmed publisher
    ..Our results provide the first detailed functional analysis of the Cav1.4 subunits that form native photoreceptor Cav1.4 channels and indicate potential heterogeneity in these channels conferred by β2a and β2X13 variants. ..
  13. Regus Leidig H, Atorf J, Feigenspan A, Kremers J, Maw M, Brandstätter J. Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2. PLoS ONE. 2014;9:e86769 pubmed publisher
    ..4 channels regulate neurotransmitter release at photoreceptor ribbon synapses. Mutations in the human CACNA1F gene encoding the ?1F subunit of Cav1...
  14. Xu M, Welling A, Paparisto S, Hofmann F, Klugbauer N. Enhanced expression of L-type Cav1.3 calcium channels in murine embryonic hearts from Cav1.2-deficient mice. J Biol Chem. 2003;278:40837-41 pubmed
    ..2 (-/-) cardiomyocytes. In summary, our results imply that calcium channel expression is dynamically regulated during heart development and that the Cav1.3 channel may substitute for Cav1.2 during early embryogenesis. ..
  15. Berntson A, Taylor W, Morgans C. Molecular identity, synaptic localization, and physiology of calcium channels in retinal bipolar cells. J Neurosci Res. 2003;71:146-51 pubmed
    ..The L-type current may be mediated by the alpha(1F) subunit, and influx of calcium through the alpha(1F) channel may control neurotransmitter release from the bipolar cell terminal. ..
  16. Etemad S, Obermair G, Bindreither D, Benedetti A, Stanika R, Di Biase V, et al. Differential neuronal targeting of a new and two known calcium channel ?4 subunit splice variants correlates with their regulation of gene expression. J Neurosci. 2014;34:1446-61 pubmed publisher
  17. Bodrikov V, Sytnyk V, Leshchyns ka I, den Hertog J, Schachner M. NCAM induces CaMKIIalpha-mediated RPTPalpha phosphorylation to enhance its catalytic activity and neurite outgrowth. J Cell Biol. 2008;182:1185-200 pubmed publisher
    ..Thus, we reveal a novel function for a cell adhesion molecule in coordination of cell behavior with intracellular phosphatase activity. ..
  18. Morgans C, Gaughwin P, Maleszka R. Expression of the alpha1F calcium channel subunit by photoreceptors in the rat retina. Mol Vis. 2001;7:202-9 pubmed
    The CACNA1F gene encodes a voltage-gated calcium channel alpha1 subunit, alpha1F, which is expressed in the human retina. Mutations in this gene cause incomplete X-linked congenital stationary night blindness (CSNB2)...
  19. Naylor M, Rancourt D, Bech Hansen N. Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness. Genomics. 2000;66:324-7 pubmed
    The mutant L-type calcium channel alpha(1)-subunit gene, CACNA1F, was recently identified as the gene responsible for incomplete X-linked congenital stationary night blindness...
  20. Griessmeier K, Cuny H, Rötzer K, Griesbeck O, Harz H, Biel M, et al. Calmodulin is a functional regulator of Cav1.4 L-type Ca2+ channels. J Biol Chem. 2009;284:29809-16 pubmed publisher
    ..Our data show that the ICDI domain selectively abolishes Ca2+-dependent inactivation, whereas it does not interfere with other calmodulin effects. ..
  21. Michalakis S, Shaltiel L, Sothilingam V, Koch S, Schludi V, Krause S, et al. Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. Hum Mol Genet. 2014;23:1538-50 pubmed publisher
    Mutations in CACNA1F encoding the ?1-subunit of the retinal Cav1.4 L-type calcium channel have been linked to Cav1...
  22. Emrick M, Sadilek M, Konoki K, Catterall W. Beta-adrenergic-regulated phosphorylation of the skeletal muscle Ca(V)1.1 channel in the fight-or-flight response. Proc Natl Acad Sci U S A. 2010;107:18712-7 pubmed publisher
  23. Park S, Li C, Haeseleer F, Palczewski K, Ames J. Structural insights into activation of the retinal L-type Ca²⁺ channel (Cav1.4) by Ca²⁺-binding protein 4 (CaBP4). J Biol Chem. 2014;289:31262-73 pubmed publisher
    ..We conclude that CaBP4 forms a collapsed structure around the IQ motif in Cav1.4 that we suggest may promote channel activation by disrupting an interaction between IQ and the inhibitor of Ca(2+)-dependent inactivation domain. ..
  24. Knoflach D, Kerov V, Sartori S, Obermair G, Schmuckermair C, Liu X, et al. Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2. Channels (Austin). 2013;7:503-13 pubmed publisher
    Mutations in the CACNA1F gene encoding the Cav1.4 Ca (2+) channel are associated with X-linked congenital stationary night blindness type 2 (CSNB2)...
  25. Berkowitz B, Murphy G, CRAFT C, Surmeier D, Roberts R. Genetic dissection of horizontal cell inhibitory signaling in mice in complete darkness in vivo. Invest Ophthalmol Vis Sci. 2015;56:3132-9 pubmed publisher
    ..Dark-adapted wild-type (wt), CACNA1F (Ca(v)1.4(-/-)), arrestin-1 (Arr1(-/-)), and CACNA1D (Ca(v)1.3(-/-)) C57Bl/6 mice were studied...
  26. Cao Y, Sarria I, Fehlhaber K, Kamasawa N, Orlandi C, James K, et al. Mechanism for Selective Synaptic Wiring of Rod Photoreceptors into the Retinal Circuitry and Its Role in Vision. Neuron. 2015;87:1248-60 pubmed publisher
    ..We conclude that ELFN1 is necessary for the selective wiring of rods into the primary rod pathway and is required for high sensitivity of vision. ..
  27. Baumann L, Gerstner A, Zong X, Biel M, Wahl Schott C. Functional characterization of the L-type Ca2+ channel Cav1.4alpha1 from mouse retina. Invest Ophthalmol Vis Sci. 2004;45:708-13 pubmed
    ..Its intrinsic biophysical properties, in particular its unique inactivation properties, enable Ca(v)1.4alpha1 to provide a sustained I(Ca) over a voltage range such as required for tonic glutamate release at the photoreceptor synapse. ..
  28. Brunkow M, Jeffery E, Hjerrild K, Paeper B, Clark L, Yasayko S, et al. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat Genet. 2001;27:68-73 pubmed
    ..In sf mice, a frameshift mutation results in a product lacking the forkhead domain. Genetic complementation demonstrates that the protein product of Foxp3, scurfin, is essential for normal immune homeostasis. ..