• Gene id: 259232

Gene Summary

• Gene Symbol: NALCN   Gene   UCSC   Ensembl
• Aliases: CLIFAHDD, CanIon, IHPRF, IHPRF1, INNFD, VGCNL1, bA430M15.1
• Gene name: sodium leak channel, non-selective
• Alternate names: sodium leak channel non-selective protein, four repeat voltage-gated ion channel, voltage gated channel like 1,
• Gene location: 13q32.3-q33.1 (101417205: 101053773)     Exons: 48     NC_000013.11
• Gene summary(Entrez): This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the
• OMIM: 612869

Protein Summary

• Protein general information: Q8IZF0  
  • Name: Sodium leak channel non selective protein (CanIon) (Voltage gated channel like protein 1)
  • Length: 1738  
  • Mass: 200331
• Sequence:

  MLKRKQSSRVEAQPVTDFGPDESLSDNADILWINKPWVHSLLRICAIISVISVCMNTPMTFEHYPPLQYVTFTLD
  TLLMFLYTAEMIAKMHIRGIVKGDSSYVKDRWCVFDGFMVFCLWVSLVLQVFEIADIVDQMSPWGMLRIPRPLIM
  IRAFRIYFRFELPRTRITNILKRSGEQIWSVSIFLLFFLLLYGILGVQMFGTFTYHCVVNDTKPGNVTWNSLAIP
  DTHCSPELEEGYQCPPGFKCMDLEDLGLSRQELGYSGFNEIGTSIFTVYEAASQEGWVFLMYRAIDSFPRWRSYF
  YFITLIFFLAWLVKNVFIAVIIETFAEIRVQFQQMWGSRSSTTSTATTQMFHEDAAGGWQLVAVDVNKPQGRAPA
  CLQKMMRSSVFHMFILSMVTVDVIVAASNYYKGENFRRQYDEFYLAEVAFTVLFDLEALLKIWCLGFTGYISSSL
  HKFELLLVIGTTLHVYPDLYHSQFTYFQVLRVVRLIKISPALEDFVYKIFGPGKKLGSLVVFTASLLIVMSAISL
  QMFCFVEELDRFTTFPRAFMSMFQILTQEGWVDVMDQTLNAVGHMWAPVVAIYFILYHLFATLILLSLFVAVILD
  NLELDEDLKKLKQLKQSEANADTKEKLPLRLRIFEKFPNRPQMVKISKLPSDFTVPKIRESFMKQFIDRQQQDTC
  CLLRSLPTTSSSSCDHSKRSAIEDNKYIDQKLRKSVFSIRARNLLEKETAVTKILRACTRQRMLSGSFEGQPAKE
  RSILSVQHHIRQERRSLRHGSNSQRISRGKSLETLTQDHSNTVRYRNAQREDSEIKMIQEKKEQAEMKRKVQEEE
  LRENHPYFDKPLFIVGREHRFRNFCRVVVRARFNASKTDPVTGAVKNTKYHQLYDLLGLVTYLDWVMIIVTICSC
  ISMMFESPFRRVMHAPTLQIAEYVFVIFMSIELNLKIMADGLFFTPTAVIRDFGGVMDIFIYLVSLIFLCWMPQN
  VPAESGAQLLMVLRCLRPLRIFKLVPQMRKVVRELFSGFKEIFLVSILLLTLMLVFASFGVQLFAGKLAKCNDPN
  IIRREDCNGIFRINVSVSKNLNLKLRPGEKKPGFWVPRVWANPRNFNFDNVGNAMLALFEVLSLKGWVEVRDVII
  HRVGPIHGIYIHVFVFLGCMIGLTLFVGVVIANFNENKGTALLTVDQRRWEDLKSRLKIAQPLHLPPRPDNDGFR
  AKMYDITQHPFFKRTIALLVLAQSVLLSVKWDVEDPVTVPLATMSVVFTFIFVLEVTMKIIAMSPAGFWQSRRNR
  YDLLVTSLGVVWVVLHFALLNAYTYMMGACVIVFRFFSICGKHVTLKMLLLTVVVSMYKSFFIIVGMFLLLLCYA
  FAGVVLFGTVKYGENINRHANFSSAGKAITVLFRIVTGEDWNKIMHDCMVQPPFCTPDEFTYWATDCGNYAGALM
  YFCSFYVIIAYIMLNLLVAIIVENFSLFYSTEEDQLLSYNDLRHFQIIWNMVDDKREGVIPTFRVKFLLRLLRGR
  LEVDLDKDKLLFKHMCYEMERLHNGGDVTFHDVLSMLSYRSVDIRKSLQLEELLAREQLEYTIEEEVAKQTIRMW
  LKKCLKRIRAKQQQSCSIIHSLRESQQQELSRFLNPPSIETTQPSEDTNANSQDNSMQPETSSQQQLLSPTLSDR
  GGSRQDAADAGKPQRKFGQWRLPSAPKPISHSVSSVNLRFGGRTTMKSVVCKMNPMTDAASCGSEVKKWWTRQLT
  VESDESGDDLLDI

• Structural information:
  • Interpro: IPR005821  IPR028823  IPR027359  
  • STRING: ENSP00000251127
• Other Databases: GeneCards:  NALCN  Malacards:  NALCN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035725	sodium ion transmembrane transport	ISS	biological process
GO:0005261	cation channel activity	ISS	molecular function
GO:0071805	potassium ion transmembrane transport	ISS	biological process
GO:0070588	calcium ion transmembrane transport	ISS	biological process
GO:0022840	leak channel activity	ISS	molecular function
GO:0060075	regulation of resting membrane potential	ISS	biological process
GO:0005261	cation channel activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005272	sodium channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005272	sodium channel activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Infantile hypotonia with psychomotor retardation and characteristic facies	KEGG:H01922
Infantile hypotonia with psychomotor retardation and characteristic facies	KEGG:H01922
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray