Q8IZF0 · NALCN_HUMAN
- ProteinSodium leak channel NALCN
- GeneNALCN
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1738 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
NALCN channel functions as a multi-protein complex, which consists at least of NALCN, NALF1, UNC79 and UNC80 (PubMed:32494638, PubMed:33203861).
NALCN is the voltage-sensing, pore-forming subunit of the NALCN channel complex (PubMed:17448995).
NALCN channel complex is constitutively active and conducts monovalent cations but is blocked by physiological concentrations of extracellular divalent cations (PubMed:32494638).
In addition to its role in regulating neuronal excitability, is required for normal respiratory rhythm, systemic osmoregulation by controlling the serum sodium concentration and in the regulation of the intestinal pace-making activity in the interstitial cells of Cajal (By similarity).
NALCN channel is also activated by neuropeptides such as neurotensin and substance P (SP) through a SRC family kinases-dependent pathway (By similarity).
In addition, NALCN activity is enhanced/modulated by several GPCRs, such as CHRM3 (By similarity).
Catalytic activity
- Na+(in) = Na+(out)
Activity regulation
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | monoatomic ion channel complex | |
Cellular Component | plasma membrane | |
Molecular Function | leak channel activity | |
Molecular Function | monoatomic cation channel activity | |
Molecular Function | sodium channel activity | |
Molecular Function | voltage-gated sodium channel activity | |
Biological Process | calcium ion transmembrane transport | |
Biological Process | monoatomic ion transmembrane transport | |
Biological Process | positive regulation of synaptic transmission, cholinergic | |
Biological Process | positive regulation of synaptic transmission, GABAergic | |
Biological Process | potassium ion transmembrane transport | |
Biological Process | regulation of resting membrane potential | |
Biological Process | sodium ion transmembrane transport |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameSodium leak channel NALCN
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8IZF0
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Features
Showing features for topological domain, transmembrane, intramembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-36 | Cytoplasmic | ||||
Sequence: MLKRKQSSRVEAQPVTDFGPDESLSDNADILWINKP | ||||||
Transmembrane | 37-57 | Helical; Name=S1 of repeat I | ||||
Sequence: WVHSLLRICAIISVISVCMNT | ||||||
Topological domain | 58-65 | Extracellular | ||||
Sequence: PMTFEHYP | ||||||
Transmembrane | 66-90 | Helical; Name=S2 of repeat I | ||||
Sequence: PLQYVTFTLDTLLMFLYTAEMIAKM | ||||||
Topological domain | 91-106 | Cytoplasmic | ||||
Sequence: HIRGIVKGDSSYVKDR | ||||||
Transmembrane | 107-129 | Helical; Name=S3 of repeat I | ||||
Sequence: WCVFDGFMVFCLWVSLVLQVFEI | ||||||
Topological domain | 130-137 | Extracellular | ||||
Sequence: ADIVDQMS | ||||||
Transmembrane | 138-158 | Helical; Voltage-sensor; Name=S4 of repeat I | ||||
Sequence: PWGMLRIPRPLIMIRAFRIYF | ||||||
Topological domain | 159-173 | Cytoplasmic | ||||
Sequence: RFELPRTRITNILKR | ||||||
Transmembrane | 174-199 | Helical; Name=S5 of repeat I | ||||
Sequence: SGEQIWSVSIFLLFFLLLYGILGVQM | ||||||
Topological domain | 200-269 | Extracellular | ||||
Sequence: FGTFTYHCVVNDTKPGNVTWNSLAIPDTHCSPELEEGYQCPPGFKCMDLEDLGLSRQELGYSGFNEIGTS | ||||||
Intramembrane | 270-289 | Pore-forming | ||||
Sequence: IFTVYEAASQEGWVFLMYRA | ||||||
Topological domain | 290-294 | Extracellular | ||||
Sequence: IDSFP | ||||||
Transmembrane | 295-322 | Helical; Name=S6 of repeat I | ||||
Sequence: RWRSYFYFITLIFFLAWLVKNVFIAVII | ||||||
Topological domain | 323-382 | Cytoplasmic | ||||
Sequence: ETFAEIRVQFQQMWGSRSSTTSTATTQMFHEDAAGGWQLVAVDVNKPQGRAPACLQKMMR | ||||||
Transmembrane | 383-403 | Helical; Name=S1 of repeat II | ||||
Sequence: SSVFHMFILSMVTVDVIVAAS | ||||||
Topological domain | 404-416 | Extracellular | ||||
Sequence: NYYKGENFRRQYD | ||||||
Transmembrane | 417-439 | Helical; Name=S2 of repeat II | ||||
Sequence: EFYLAEVAFTVLFDLEALLKIWC | ||||||
Topological domain | 440-447 | Cytoplasmic | ||||
Sequence: LGFTGYIS | ||||||
Transmembrane | 448-468 | Helical; Name=S3 of repeat II | ||||
Sequence: SSLHKFELLLVIGTTLHVYPD | ||||||
Topological domain | 469-472 | Extracellular | ||||
Sequence: LYHS | ||||||
Transmembrane | 473-492 | Helical; Voltage-sensor; Name=S4 of repeat II | ||||
Sequence: QFTYFQVLRVVRLIKISPAL | ||||||
Topological domain | 493-502 | Cytoplasmic | ||||
Sequence: EDFVYKIFGP | ||||||
Transmembrane | 503-530 | Helical; Name=S5 of repeat II | ||||
Sequence: GKKLGSLVVFTASLLIVMSAISLQMFCF | ||||||
Topological domain | 531-543 | Extracellular | ||||
Sequence: VEELDRFTTFPRA | ||||||
Intramembrane | 544-563 | Pore-forming | ||||
Sequence: FMSMFQILTQEGWVDVMDQT | ||||||
Topological domain | 564-569 | Extracellular | ||||
Sequence: LNAVGH | ||||||
Transmembrane | 570-599 | Helical; Name=S6 of repeat II | ||||
Sequence: MWAPVVAIYFILYHLFATLILLSLFVAVIL | ||||||
Topological domain | 600-886 | Cytoplasmic | ||||
Sequence: DNLELDEDLKKLKQLKQSEANADTKEKLPLRLRIFEKFPNRPQMVKISKLPSDFTVPKIRESFMKQFIDRQQQDTCCLLRSLPTTSSSSCDHSKRSAIEDNKYIDQKLRKSVFSIRARNLLEKETAVTKILRACTRQRMLSGSFEGQPAKERSILSVQHHIRQERRSLRHGSNSQRISRGKSLETLTQDHSNTVRYRNAQREDSEIKMIQEKKEQAEMKRKVQEEELRENHPYFDKPLFIVGREHRFRNFCRVVVRARFNASKTDPVTGAVKNTKYHQLYDLLGLVT | ||||||
Transmembrane | 887-906 | Helical; Name=S1 of repeat III | ||||
Sequence: YLDWVMIIVTICSCISMMFE | ||||||
Topological domain | 907-915 | Extracellular | ||||
Sequence: SPFRRVMHA | ||||||
Transmembrane | 916-939 | Helical; Name=S2 of repeat III | ||||
Sequence: PTLQIAEYVFVIFMSIELNLKIMA | ||||||
Topological domain | 940-947 | Cytoplasmic | ||||
Sequence: DGLFFTPT | ||||||
Transmembrane | 948-972 | Helical; Name=S3 of repeat III | ||||
Sequence: AVIRDFGGVMDIFIYLVSLIFLCWM | ||||||
Topological domain | 973-980 | Extracellular | ||||
Sequence: PQNVPAES | ||||||
Transmembrane | 981-1003 | Helical; Voltage-sensor; Name=S4 of repeat III | ||||
Sequence: GAQLLMVLRCLRPLRIFKLVPQM | ||||||
Topological domain | 1004-1015 | Cytoplasmic | ||||
Sequence: RKVVRELFSGFK | ||||||
Transmembrane | 1016-1039 | Helical; Name=S5 of repeat III | ||||
Sequence: EIFLVSILLLTLMLVFASFGVQLF | ||||||
Topological domain | 1040-1104 | Extracellular | ||||
Sequence: AGKLAKCNDPNIIRREDCNGIFRINVSVSKNLNLKLRPGEKKPGFWVPRVWANPRNFNFDNVGNA | ||||||
Intramembrane | 1105-1124 | Pore-forming | ||||
Sequence: MLALFEVLSLKGWVEVRDVI | ||||||
Topological domain | 1125-1129 | Extracellular | ||||
Sequence: IHRVG | ||||||
Transmembrane | 1130-1159 | Helical; Name=S6 of repeat III | ||||
Sequence: PIHGIYIHVFVFLGCMIGLTLFVGVVIANF | ||||||
Topological domain | 1160-1210 | Cytoplasmic | ||||
Sequence: NENKGTALLTVDQRRWEDLKSRLKIAQPLHLPPRPDNDGFRAKMYDITQHP | ||||||
Transmembrane | 1211-1227 | Helical; Name=S1 of repeat IV | ||||
Sequence: FFKRTIALLVLAQSVLL | ||||||
Topological domain | 1228-1236 | Extracellular | ||||
Sequence: SVKWDVEDP | ||||||
Transmembrane | 1237-1260 | Helical; Name=S2 of repeat IV | ||||
Sequence: VTVPLATMSVVFTFIFVLEVTMKI | ||||||
Topological domain | 1261-1271 | Cytoplasmic | ||||
Sequence: IAMSPAGFWQS | ||||||
Transmembrane | 1272-1293 | Helical; Name=S3 of repeat IV | ||||
Sequence: RRNRYDLLVTSLGVVWVVLHFA | ||||||
Topological domain | 1294-1296 | Extracellular | ||||
Sequence: LLN | ||||||
Transmembrane | 1297-1318 | Helical; Voltage-sensor; Name=S4 of repeat IV | ||||
Sequence: AYTYMMGACVIVFRFFSICGKH | ||||||
Topological domain | 1319-1331 | Cytoplasmic | ||||
Sequence: VTLKMLLLTVVVS | ||||||
Transmembrane | 1332-1357 | Helical; Name=S5 of repeat IV | ||||
Sequence: MYKSFFIIVGMFLLLLCYAFAGVVLF | ||||||
Topological domain | 1358-1378 | Extracellular | ||||
Sequence: GTVKYGENINRHANFSSAGKA | ||||||
Intramembrane | 1379-1398 | Pore-forming | ||||
Sequence: ITVLFRIVTGEDWNKIMHDC | ||||||
Topological domain | 1399-1420 | Extracellular | ||||
Sequence: MVQPPFCTPDEFTYWATDCGNY | ||||||
Transmembrane | 1421-1447 | Helical; Name=S6 of repeat IV | ||||
Sequence: AGALMYFCSFYVIIAYIMLNLLVAIIV | ||||||
Topological domain | 1448-1738 | Cytoplasmic | ||||
Sequence: ENFSLFYSTEEDQLLSYNDLRHFQIIWNMVDDKREGVIPTFRVKFLLRLLRGRLEVDLDKDKLLFKHMCYEMERLHNGGDVTFHDVLSMLSYRSVDIRKSLQLEELLAREQLEYTIEEEVAKQTIRMWLKKCLKRIRAKQQQSCSIIHSLRESQQQELSRFLNPPSIETTQPSEDTNANSQDNSMQPETSSQQQLLSPTLSDRGGSRQDAADAGKPQRKFGQWRLPSAPKPISHSVSSVNLRFGGRTTMKSVVCKMNPMTDAASCGSEVKKWWTRQLTVESDESGDDLLDI |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (IHPRF1)
- Note
- DescriptionA neurodegenerative disease characterized by variable degrees of hypotonia, speech impairment, intellectual disability, pyramidal signs, subtle facial dysmorphism, and chronic constipation. Some patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated axons and spheroid bodies in tissue biopsies.
- See alsoMIM:615419
Natural variants in IHPRF1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_073364 | 509 | L>S | in CLIFAHDD and IHPRF1; nearly eliminates wild-type protein expression; dominant-negative mutation; decreases membrane expression; induces higher current density and slower inactivation; dbSNP:rs786203987 | |
VAR_073365 | 578 | Y>S | in CLIFAHDD and IHPRF1; nearly eliminates wild-type protein expression; dominant-negative mutation; decreases membrane expression; induces higher current density and slower inactivation; dbSNP:rs786203988 | |
VAR_070599 | 1287 | W>L | in IHPRF1; loss of function; dbSNP:rs587777068 |
Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD)
- Note
- DescriptionA disease characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, abnormal tone, most commonly manifested as hypotonia, and variable degrees of developmental delay.
- See alsoMIM:616266
Natural variants in CLIFAHDD
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_073361 | 177 | Q>P | in CLIFAHDD; dbSNP:rs786203984 | |
VAR_073362 | 312 | L>I | in CLIFAHDD; dbSNP:rs878853134 | |
VAR_073363 | 313 | V>G | in CLIFAHDD; dbSNP:rs786203985 | |
VAR_073364 | 509 | L>S | in CLIFAHDD and IHPRF1; nearly eliminates wild-type protein expression; dominant-negative mutation; decreases membrane expression; induces higher current density and slower inactivation; dbSNP:rs786203987 | |
VAR_073365 | 578 | Y>S | in CLIFAHDD and IHPRF1; nearly eliminates wild-type protein expression; dominant-negative mutation; decreases membrane expression; induces higher current density and slower inactivation; dbSNP:rs786203988 | |
VAR_073366 | 590 | L>F | in CLIFAHDD; dbSNP:rs786203986 | |
VAR_073367 | 1165 | T>P | in CLIFAHDD; dbSNP:rs878853128 | |
VAR_076678 | 1181 | R>Q | in CLIFAHDD; uncertain significance; also found in patients with neurodevelopmental disease and hypotonia; uncertain significance; dbSNP:rs786201003 | |
VAR_073368 | 1446 | I>M | in CLIFAHDD; dbSNP:rs878853127 |
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 146 | Affects voltage sensitivity. | ||||
Sequence: R → Q | ||||||
Mutagenesis | 152 | Affects voltage sensitivity. | ||||
Sequence: R → Q | ||||||
Mutagenesis | 155 | Affects voltage sensitivity. | ||||
Sequence: R → Q | ||||||
Natural variant | VAR_073361 | 177 | in CLIFAHDD; dbSNP:rs786203984 | |||
Sequence: Q → P | ||||||
Mutagenesis | 280 | Drastically more sensitive to Ca2+ block. | ||||
Sequence: E → A | ||||||
Natural variant | VAR_073362 | 312 | in CLIFAHDD; dbSNP:rs878853134 | |||
Sequence: L → I | ||||||
Natural variant | VAR_076674 | 312 | found in patients with neurodevelopmental disease and hypotonia; uncertain significance | |||
Sequence: L → V | ||||||
Natural variant | VAR_073363 | 313 | in CLIFAHDD; dbSNP:rs786203985 | |||
Sequence: V → G | ||||||
Natural variant | VAR_076675 | 317 | found in patients with distal arthrogryposis and central hypertonia; uncertain significance; dbSNP:rs1594616249 | |||
Sequence: F → C | ||||||
Mutagenesis | 325 | Increases channel activity. | ||||
Sequence: F → A | ||||||
Mutagenesis | 328 | Increases channel activity. | ||||
Sequence: I → W | ||||||
Mutagenesis | 332 | No effect on the channel activity. | ||||
Sequence: F → A | ||||||
Mutagenesis | 481 | Exhibits altered current kinetics. | ||||
Sequence: R → Q | ||||||
Mutagenesis | 484 | Does not exhibited altered current kinetics. | ||||
Sequence: R → Q | ||||||
Mutagenesis | 487 | Does not exhibited altered current kinetics. | ||||
Sequence: K → Q | ||||||
Mutagenesis | 504 | Decreases channel activity. | ||||
Sequence: K → D or A | ||||||
Mutagenesis | 505 | Decreases channel activity. | ||||
Sequence: K → A | ||||||
Natural variant | VAR_073364 | 509 | in CLIFAHDD and IHPRF1; nearly eliminates wild-type protein expression; dominant-negative mutation; decreases membrane expression; induces higher current density and slower inactivation; dbSNP:rs786203987 | |||
Sequence: L → S | ||||||
Mutagenesis | 554 | Drastically more sensitive to Ca2+ block. | ||||
Sequence: E → A | ||||||
Mutagenesis | 558 | Moderately more sensitive to Ca2+ block. | ||||
Sequence: D → A | ||||||
Mutagenesis | 561 | No effect on the blockage of NALCN pore by Ca2+. | ||||
Sequence: D → A | ||||||
Natural variant | VAR_073365 | 578 | in CLIFAHDD and IHPRF1; nearly eliminates wild-type protein expression; dominant-negative mutation; decreases membrane expression; induces higher current density and slower inactivation; dbSNP:rs786203988 | |||
Sequence: Y → S | ||||||
Natural variant | VAR_073366 | 590 | in CLIFAHDD; dbSNP:rs786203986 | |||
Sequence: L → F | ||||||
Natural variant | VAR_076676 | 595 | found in patients with distal arthrogryposis and central hypertonia; uncertain significance; dbSNP:rs1594368753 | |||
Sequence: V → F | ||||||
Mutagenesis | 989 | Does not affect the voltage sensitivity. | ||||
Sequence: R → Q | ||||||
Mutagenesis | 992 | Does not affect the voltage sensitivity. | ||||
Sequence: R → Q | ||||||
Mutagenesis | 995 | Does not affect the voltage sensitivity. | ||||
Sequence: R → Q | ||||||
Natural variant | VAR_076677 | 1020 | found in patients with neurodevelopmental disease and hypotonia; uncertain significance | |||
Sequence: V → F | ||||||
Mutagenesis | 1115 | No effect on the blockage of NALCN pore by Ca2+. | ||||
Sequence: K → A | ||||||
Mutagenesis | 1119 | Moderately more sensitive to Ca2+ block. | ||||
Sequence: E → A | ||||||
Natural variant | VAR_073367 | 1165 | in CLIFAHDD; dbSNP:rs878853128 | |||
Sequence: T → P | ||||||
Natural variant | VAR_076678 | 1181 | in CLIFAHDD; uncertain significance; also found in patients with neurodevelopmental disease and hypotonia; uncertain significance; dbSNP:rs786201003 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_070599 | 1287 | in IHPRF1; loss of function; dbSNP:rs587777068 | |||
Sequence: W → L | ||||||
Mutagenesis | 1310 | Does not affect the voltage sensitivity. | ||||
Sequence: R → Q | ||||||
Mutagenesis | 1389 | Moderately more sensitive to Ca2+ block. | ||||
Sequence: E → A | ||||||
Mutagenesis | 1390 | Drastically more sensitive to Ca2+ block. | ||||
Sequence: D → A | ||||||
Natural variant | VAR_073368 | 1446 | in CLIFAHDD; dbSNP:rs878853127 | |||
Sequence: I → M |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,777 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, disulfide bond, glycosylation.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000314010 | 1-1738 | Sodium leak channel NALCN | |||
Sequence: MLKRKQSSRVEAQPVTDFGPDESLSDNADILWINKPWVHSLLRICAIISVISVCMNTPMTFEHYPPLQYVTFTLDTLLMFLYTAEMIAKMHIRGIVKGDSSYVKDRWCVFDGFMVFCLWVSLVLQVFEIADIVDQMSPWGMLRIPRPLIMIRAFRIYFRFELPRTRITNILKRSGEQIWSVSIFLLFFLLLYGILGVQMFGTFTYHCVVNDTKPGNVTWNSLAIPDTHCSPELEEGYQCPPGFKCMDLEDLGLSRQELGYSGFNEIGTSIFTVYEAASQEGWVFLMYRAIDSFPRWRSYFYFITLIFFLAWLVKNVFIAVIIETFAEIRVQFQQMWGSRSSTTSTATTQMFHEDAAGGWQLVAVDVNKPQGRAPACLQKMMRSSVFHMFILSMVTVDVIVAASNYYKGENFRRQYDEFYLAEVAFTVLFDLEALLKIWCLGFTGYISSSLHKFELLLVIGTTLHVYPDLYHSQFTYFQVLRVVRLIKISPALEDFVYKIFGPGKKLGSLVVFTASLLIVMSAISLQMFCFVEELDRFTTFPRAFMSMFQILTQEGWVDVMDQTLNAVGHMWAPVVAIYFILYHLFATLILLSLFVAVILDNLELDEDLKKLKQLKQSEANADTKEKLPLRLRIFEKFPNRPQMVKISKLPSDFTVPKIRESFMKQFIDRQQQDTCCLLRSLPTTSSSSCDHSKRSAIEDNKYIDQKLRKSVFSIRARNLLEKETAVTKILRACTRQRMLSGSFEGQPAKERSILSVQHHIRQERRSLRHGSNSQRISRGKSLETLTQDHSNTVRYRNAQREDSEIKMIQEKKEQAEMKRKVQEEELRENHPYFDKPLFIVGREHRFRNFCRVVVRARFNASKTDPVTGAVKNTKYHQLYDLLGLVTYLDWVMIIVTICSCISMMFESPFRRVMHAPTLQIAEYVFVIFMSIELNLKIMADGLFFTPTAVIRDFGGVMDIFIYLVSLIFLCWMPQNVPAESGAQLLMVLRCLRPLRIFKLVPQMRKVVRELFSGFKEIFLVSILLLTLMLVFASFGVQLFAGKLAKCNDPNIIRREDCNGIFRINVSVSKNLNLKLRPGEKKPGFWVPRVWANPRNFNFDNVGNAMLALFEVLSLKGWVEVRDVIIHRVGPIHGIYIHVFVFLGCMIGLTLFVGVVIANFNENKGTALLTVDQRRWEDLKSRLKIAQPLHLPPRPDNDGFRAKMYDITQHPFFKRTIALLVLAQSVLLSVKWDVEDPVTVPLATMSVVFTFIFVLEVTMKIIAMSPAGFWQSRRNRYDLLVTSLGVVWVVLHFALLNAYTYMMGACVIVFRFFSICGKHVTLKMLLLTVVVSMYKSFFIIVGMFLLLLCYAFAGVVLFGTVKYGENINRHANFSSAGKAITVLFRIVTGEDWNKIMHDCMVQPPFCTPDEFTYWATDCGNYAGALMYFCSFYVIIAYIMLNLLVAIIVENFSLFYSTEEDQLLSYNDLRHFQIIWNMVDDKREGVIPTFRVKFLLRLLRGRLEVDLDKDKLLFKHMCYEMERLHNGGDVTFHDVLSMLSYRSVDIRKSLQLEELLAREQLEYTIEEEVAKQTIRMWLKKCLKRIRAKQQQSCSIIHSLRESQQQELSRFLNPPSIETTQPSEDTNANSQDNSMQPETSSQQQLLSPTLSDRGGSRQDAADAGKPQRKFGQWRLPSAPKPISHSVSSVNLRFGGRTTMKSVVCKMNPMTDAASCGSEVKKWWTRQLTVESDESGDDLLDI | ||||||
Disulfide bond | 207↔239 | |||||
Sequence: CVVNDTKPGNVTWNSLAIPDTHCSPELEEGYQC | ||||||
Glycosylation | 210 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 216 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 229↔245 | |||||
Sequence: CSPELEEGYQCPPGFKC | ||||||
Disulfide bond | 1046↔1057 | |||||
Sequence: CNDPNIIRREDC | ||||||
Glycosylation | 1064 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 1405↔1417 | |||||
Sequence: CTPDEFTYWATDC |
Post-translational modification
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Interacts with UNC80; required for the NALCN activation/inhibition by GPCRs in neurons. Found in a complex with NALCN, UNC79 and UNC80; UNC80 bridges NALCN to UNC79 (By similarity).
Interacts with CHRM3 (By similarity).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q8IZF0 | CHRM3 P20309 | 3 | EBI-7085333, EBI-2687785 | |
BINARY | Q8IZF0 | MEOX2 P50222 | 3 | EBI-7085333, EBI-748397 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, coiled coil, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 762-785 | Disordered | ||||
Sequence: QERRSLRHGSNSQRISRGKSLETL | ||||||
Coiled coil | 795-830 | |||||
Sequence: YRNAQREDSEIKMIQEKKEQAEMKRKVQEEELRENH | ||||||
Compositional bias | 1611-1651 | Polar residues | ||||
Sequence: PPSIETTQPSEDTNANSQDNSMQPETSSQQQLLSPTLSDRG | ||||||
Region | 1611-1678 | Disordered | ||||
Sequence: PPSIETTQPSEDTNANSQDNSMQPETSSQQQLLSPTLSDRGGSRQDAADAGKPQRKFGQWRLPSAPKP |
Domain
Sequence similarities
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q8IZF0-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length1,738
- Mass (Da)200,331
- Last updated2003-03-01 v1
- Checksum296BB66C9E443151
Q8IZF0-2
- Name2
Q8IZF0-3
- Name3
Computationally mapped potential isoform sequences
There are 8 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A6Q8PFJ2 | A0A6Q8PFJ2_HUMAN | NALCN | 801 | ||
A0A6Q8PG91 | A0A6Q8PG91_HUMAN | NALCN | 170 | ||
A0A6Q8PFS9 | A0A6Q8PFS9_HUMAN | NALCN | 1767 | ||
A0A6Q8PGX7 | A0A6Q8PGX7_HUMAN | NALCN | 224 | ||
A0A6Q8PF19 | A0A6Q8PF19_HUMAN | NALCN | 1709 | ||
A0A6Q8PHC5 | A0A6Q8PHC5_HUMAN | NALCN | 256 | ||
A0A6Q8PHH0 | A0A6Q8PHH0_HUMAN | NALCN | 1645 | ||
A0A3B3ISV8 | A0A3B3ISV8_HUMAN | NALCN | 1522 |
Sequence caution
Features
Showing features for alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_030188 | 216-218 | in isoform 3 | |||
Sequence: NVT → LSL | ||||||
Alternative sequence | VSP_030189 | 219-1738 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_030190 | 589-668 | in isoform 2 | |||
Sequence: ILLSLFVAVILDNLELDEDLKKLKQLKQSEANADTKEKLPLRLRIFEKFPNRPQMVKISKLPSDFTVPKIRESFMKQFID → PPSLIRDLCGTQDACPSCLPLQPPNHLPGSQTLARLTHQALTTPPGMRSSQLFSKISLLLGICVAWESILGSLSLSHNLQ | ||||||
Alternative sequence | VSP_030191 | 669-1738 | in isoform 2 | |||
Sequence: Missing | ||||||
Compositional bias | 1611-1651 | Polar residues | ||||
Sequence: PPSIETTQPSEDTNANSQDNSMQPETSSQQQLLSPTLSDRG |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY141972 EMBL· GenBank· DDBJ | AAN10255.1 EMBL· GenBank· DDBJ | mRNA | ||
AL138707 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL354891 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL356778 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471085 EMBL· GenBank· DDBJ | EAX09045.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC028390 EMBL· GenBank· DDBJ | AAH28390.1 EMBL· GenBank· DDBJ | mRNA | ||
BC064343 EMBL· GenBank· DDBJ | AAH64343.1 EMBL· GenBank· DDBJ | mRNA | ||
AE014293 EMBL· GenBank· DDBJ | AAN16023.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK172752 EMBL· GenBank· DDBJ | BAD18738.1 EMBL· GenBank· DDBJ | mRNA | Different initiation |