Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
1 to 25 of 30  Show
  1. 1
    "VGCNL1, a putative voltage-gated ion channel."
    Bonner T.I., Moses T., Detera-Wadleigh S.
    Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Category: Sequences.
    Tissue: Brain.
    Source: UniProtKB/Swiss-Prot (reviewed).
  2. 2
    "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 924 other entries.

  3. 3
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  4. 4
    "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
    Category: Sequences.
    Tissue: Bone and Brain.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 50448 other entries.

  5. 5
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 6 and mapped to 10 other entries.

  6. 6
    "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1428-1738.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 12927 other entries.

  7. 7
    "The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm."
    Lu B., Su Y., Das S., Liu J., Xia J., Ren D.
    Cell 129:371-383(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
    Category: Function.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 2 and mapped to 2 other entries.

  8. 8
    "Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism."
    Koeroglu C., Seven M., Tolun A.
    J. Med. Genet. 50:515-520(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN IHPRF1.
    Category: Pathology & Biotech.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 7 other entries.

  9. 9
    Cited for: INVOLVEMENT IN CLIFAHDD, VARIANTS CLIFAHDD PRO-177; ILE-312; GLY-313; SER-509; SER-578; PHE-590; PRO-1165 AND MET-1446, CHARACTERIZATION OF VARIANTS CLIFAHDD SER-509 AND SER-578.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 7 other entries.

  10. 10
    "Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay."
    Al-Sayed M.D., Al-Zaidan H., Albakheet A., Hakami H., Kenana R., Al-Yafee Y., Al-Dosary M., Qari A., Al-Sheddi T., Al-Muheiza M., Al-Qubbaj W., Lakmache Y., Al-Hindi H., Ghaziuddin M., Colak D., Kaya N.
    Am. J. Hum. Genet. 93:721-726(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT IHPRF1 LEU-1287.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 7 other entries.

  11. 11
    "A gain-of-function mutation in NALCN in a child with intellectual disability, ataxia, and arthrogryposis."
    Aoyagi K., Rossignol E., Hamdan F.F., Mulcahy B., Xie L., Nagamatsu S., Rouleau G.A., Zhen M., Michaud J.L.
    Hum. Mutat. 36:753-757(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLN-1181.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  12. 12
    Cited for: VARIANTS VAL-312; PHE-1020 AND GLN-1181.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 7 other entries.

  13. 13
    "Novel mutations in the nonselective sodium leak channel (NALCN) lead to distal arthrogryposis with increased muscle tone."
    Karakaya M., Heller R., Kunde V., Zimmer K.P., Chao C.M., Nuernberg P., Cirak S.
    Neuropediatrics 47:273-277(2016) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CYS-317 AND PHE-595.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 7 other entries.

  14. 14
    "Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort."
    Ollila H.M., Soronen P., Silander K., Palo O.M., Kieseppa T., Kaunisto M.A., Lonnqvist J., Peltonen L., Partonen T., Paunio T.
    Mol. Psychiatry 14:351-353(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:259232.

    This publication is mapped to 52 other entries.

  15. 15
    "UNC80 functions as a scaffold for Src kinases in NALCN channel function."
    Wang H., Ren D.
    Channels (Austin) 3:161-163(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: UNC80 functions as a scaffold for Src kinases in NALCN channel function.
    Source: GeneRIF:259232.

    This publication is mapped to 13 other entries.

  16. 16
    "The NALCN ion channel is activated by M3 muscarinic receptors in a pancreatic beta-cell line."
    Swayne L.A., Mezghrani A., Varrault A., Chemin J., Bertrand G., Dalle S., Bourinet E., Lory P., Miller R.J., Nargeot J., Monteil A.
    EMBO Rep. 10:873-880(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Expression, Interaction.
    Annotation: Data show the molecular basis of a muscarinic-activated inward sodium current that is independent of G-protein activation and provide new insights into the properties of NALCN channels. [GeneRIF:259232].
    Source: GeneRIF:259232, IntAct:Q8IZF0.

    This publication is cited by 1 and mapped to 14 other entries.

  17. 17
    "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score."
    Rose J.E., Behm F.M., Drgon T., Johnson C., Uhl G.R.
    Mol. Med. 16:247-253(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator).
    Source: GeneRIF:259232.

    This publication is mapped to 11696 other entries.

  18. 18
    Category: Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator); This study observed nominal association with rs9518320 and rs9518331 suggesting that NALCN is not related to schizophrenia risk.
    Source: GeneRIF:259232.

    This publication is mapped to 8 other entries.

  19. 19
    "A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder."
    Wang K.S., Liu X.F., Aragam N.
    Schizophr. Res. 124:192-199(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:259232.

    This publication is mapped to 48 other entries.

  20. 20
    "Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex."
    Lu B., Zhang Q., Wang H., Wang Y., Nakayama M., Ren D.
    Neuron 68:488-499(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-2730661.

    This publication is cited by 3 and mapped to 13 other entries.

  21. 21
    "Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel."
    Mok K.Y., Schneider S.A., Trabzuni D., Stamelou M., Edwards M., Kasperaviciute D., Pickering-Brown S., Silverdale M., Hardy J., Bhatia K.P.
    Mov. Disord. 29:245-251(2014) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Pathology & Biotech.
    Annotation: This study found a plausible association though not statistically confirmed of cervical dystonia with SNPs in the NALCN region.
    Source: GeneRIF:259232.

    This publication is mapped to 8 other entries.

  22. 22
    Category: Interaction.
    Source: IntAct:Q8IZF0.

    This publication is mapped to 4105 other entries.

  23. 23
    "Sodium leak channel, non-selective contributes to the leak current in human myometrial smooth muscle cells from pregnant women."
    Reinl E.L., Cabeza R., Gregory I.A., Cahill A.G., England S.K.
    Mol. Hum. Reprod. 21:816-824(2015) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Expression.
    Annotation: Ohmic leak currents were identified in freshly isolated and cultured myometrial smooth muscle cells. NALCN contributes to this current. Uterine biopsies from term non-laboring women revealed NALCN messenger RNA and protein expression in the myometrium.
    Source: GeneRIF:259232.

    This publication is mapped to 8 other entries.

  24. 24
    "UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN."
    Perez Y., Kadir R., Volodarsky M., Noyman I., Flusser H., Shorer Z., Gradstein L., Birnbaum R.Y., Birk O.S.
    J. Med. Genet. 53:397-402(2016) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: UNC80 bridges between UNC79 and the cation channel NALCN.
    Source: GeneRIF:259232.

    This publication is mapped to 8 other entries.

  25. 25
    "Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy."
    Shamseldin H.E., Faqeih E., Alasmari A., Zaki M.S., Gleeson J.G., Alkuraya F.S.
    Am. J. Hum. Genet. 98:210-215(2016) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex.
    Source: GeneRIF:259232.

    This publication is cited by 1 and mapped to 9 other entries.

1 to 25 of 30  Show
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again