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Protein

Sodium leak channel non-selective protein

Gene

NALCN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Regulates the resting membrane potential and controls neuronal excitability (PubMed:17448995). Neuropeptides such as neurotensin and substance P (SP) stimulate the firing of action potentials by activating NALCN through a SRC family kinases-dependent pathway. In addition to its baseline activity, NALCN activity is enhanced/modulated by several GPCRs. Required for normal respiratory rhythm and neonatal survival. Involved in systemic osmoregulation by controlling the serum sodium concentration. NALCN is partly responsible for the substance P-induced depolarization and regulation of the intestinal pace-making activity in the interstitial cells of Cajal. Plays a critical role in both maintenance of spontaneous firing of substantia nigra pars reticulata (SNr) neurons and physiological modulation of SNr neuron excitability (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Protein family/group databases

TCDBi1.A.1.11.15. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium leak channel non-selective protein
Alternative name(s):
CanIon
Voltage gated channel-like protein 1
Gene namesi
Name:NALCN
Synonyms:VGCNL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:19082. NALCN.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 40CytoplasmicSequence analysisAdd BLAST40
Transmembranei41 – 61Helical; Name=S1 of repeat ISequence analysisAdd BLAST21
Topological domaini62 – 66ExtracellularSequence analysis5
Transmembranei67 – 87Helical; Name=S2 of repeat ISequence analysisAdd BLAST21
Topological domaini88 – 106CytoplasmicSequence analysisAdd BLAST19
Transmembranei107 – 127Helical; Name=S3 of repeat ISequence analysisAdd BLAST21
Topological domaini128 – 138ExtracellularSequence analysisAdd BLAST11
Transmembranei139 – 158Helical; Voltage-sensor; Name=S4 of repeat ISequence analysisAdd BLAST20
Topological domaini159 – 182CytoplasmicSequence analysisAdd BLAST24
Transmembranei183 – 203Helical; Name=S5 of repeat ISequence analysisAdd BLAST21
Topological domaini204 – 301ExtracellularSequence analysisAdd BLAST98
Transmembranei302 – 322Helical; Name=S6 of repeat ISequence analysisAdd BLAST21
Topological domaini323 – 382CytoplasmicSequence analysisAdd BLAST60
Transmembranei383 – 403Helical; Name=S1 of repeat IISequence analysisAdd BLAST21
Topological domaini404 – 422ExtracellularSequence analysisAdd BLAST19
Transmembranei423 – 443Helical; Name=S2 of repeat IISequence analysisAdd BLAST21
Topological domaini444 – 448CytoplasmicSequence analysis5
Transmembranei449 – 468Helical; Name=S3 of repeat IISequence analysisAdd BLAST20
Topological domaini469 – 476ExtracellularSequence analysis8
Transmembranei477 – 500Helical; Voltage-sensor; Name=S4 of repeat IISequence analysisAdd BLAST24
Topological domaini501 – 509CytoplasmicSequence analysis9
Transmembranei510 – 530Helical; Name=S5 of repeat IISequence analysisAdd BLAST21
Topological domaini531 – 578ExtracellularSequence analysisAdd BLAST48
Transmembranei579 – 599Helical; Name=S6 of repeat IISequence analysisAdd BLAST21
Topological domaini600 – 880CytoplasmicSequence analysisAdd BLAST281
Transmembranei881 – 901Helical; Name=S1 of repeat IIISequence analysisAdd BLAST21
Topological domaini902 – 923ExtracellularSequence analysisAdd BLAST22
Transmembranei924 – 944Helical; Name=S2 of repeat IIISequence analysisAdd BLAST21
Topological domaini945 – 952CytoplasmicSequence analysis8
Transmembranei953 – 973Helical; Name=S3 of repeat IIISequence analysisAdd BLAST21
Topological domaini974 – 979ExtracellularSequence analysis6
Transmembranei980 – 997Helical; Voltage-sensor; Name=S4 of repeat IIISequence analysisAdd BLAST18
Topological domaini998 – 1015CytoplasmicSequence analysisAdd BLAST18
Transmembranei1016 – 1036Helical; Name=S5 of repeat IIISequence analysisAdd BLAST21
Topological domaini1037 – 1135ExtracellularSequence analysisAdd BLAST99
Transmembranei1136 – 1156Helical; Name=S6 of repeat IIISequence analysisAdd BLAST21
Topological domaini1157 – 1209CytoplasmicSequence analysisAdd BLAST53
Transmembranei1210 – 1227Helical; Name=S1 of repeat IVSequence analysisAdd BLAST18
Topological domaini1228 – 1235ExtracellularSequence analysis8
Transmembranei1236 – 1256Helical; Name=S2 of repeat IVSequence analysisAdd BLAST21
Topological domaini1257 – 1277CytoplasmicSequence analysisAdd BLAST21
Transmembranei1278 – 1298Helical; Name=S3 of repeat IVSequence analysisAdd BLAST21
Topological domaini1299ExtracellularSequence analysis1
Transmembranei1300 – 1316Helical; Voltage-sensor; Name=S4 of repeat IVSequence analysisAdd BLAST17
Topological domaini1317 – 1335CytoplasmicSequence analysisAdd BLAST19
Transmembranei1336 – 1356Helical; Name=S5 of repeat IVSequence analysisAdd BLAST21
Topological domaini1357 – 1426ExtracellularSequence analysisAdd BLAST70
Transmembranei1427 – 1447Helical; Name=S6 of repeat IVSequence analysisAdd BLAST21
Topological domaini1448 – 1738CytoplasmicSequence analysisAdd BLAST291

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (IHPRF1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:615419
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0705991287W → L in IHPRF1. 1 PublicationCorresponds to variant rs587777068dbSNPEnsembl.1
Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:616266
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073361177Q → P in CLIFAHDD. 1 PublicationCorresponds to variant rs786203984dbSNPEnsembl.1
Natural variantiVAR_073362312L → I in CLIFAHDD. 1 Publication1
Natural variantiVAR_073363313V → G in CLIFAHDD. 1 PublicationCorresponds to variant rs786203985dbSNPEnsembl.1
Natural variantiVAR_073364509L → S in CLIFAHDD; nearly eliminates wild-type protein expression; dominant-negative mutation. 1 PublicationCorresponds to variant rs786203987dbSNPEnsembl.1
Natural variantiVAR_073365578Y → S in CLIFAHDD; nearly eliminates wild-type protein expression; dominant-negative mutation. 1 PublicationCorresponds to variant rs786203988dbSNPEnsembl.1
Natural variantiVAR_073366590L → F in CLIFAHDD. 1 PublicationCorresponds to variant rs786203986dbSNPEnsembl.1
Natural variantiVAR_0733671165T → P in CLIFAHDD. 1 Publication1
Natural variantiVAR_0733681446I → M in CLIFAHDD. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi259232.
MalaCardsiNALCN.
MIMi615419. phenotype.
616266. phenotype.
OpenTargetsiENSG00000102452.
Orphaneti371364. Hypotonia-speech impairment-severe cognitive delay syndrome.
PharmGKBiPA162396840.

Chemistry databases

GuidetoPHARMACOLOGYi750.

Polymorphism and mutation databases

BioMutaiNALCN.
DMDMi74750791.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003140101 – 1738Sodium leak channel non-selective proteinAdd BLAST1738

Post-translational modificationi

Phosphorylated on tyrosine residues.By similarity

Proteomic databases

PaxDbiQ8IZF0.
PeptideAtlasiQ8IZF0.
PRIDEiQ8IZF0.

PTM databases

iPTMnetiQ8IZF0.
PhosphoSitePlusiQ8IZF0.
SwissPalmiQ8IZF0.

Expressioni

Gene expression databases

BgeeiENSG00000102452.
CleanExiHS_NALCN.
ExpressionAtlasiQ8IZF0. baseline and differential.
GenevisibleiQ8IZF0. HS.

Organism-specific databases

HPAiHPA031889.
HPA031890.
HPA031958.

Interactioni

Subunit structurei

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. Interacts with CHRM3.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CHRM3P203093EBI-7085333,EBI-2687785
MEOX2A4D1273EBI-7085333,EBI-10172134

Protein-protein interaction databases

BioGridi129228. 3 interactors.
IntActiQ8IZF0. 2 interactors.
STRINGi9606.ENSP00000251127.

Structurei

3D structure databases

ProteinModelPortaliQ8IZF0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili795 – 830Sequence analysisAdd BLAST36

Domaini

Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor. S4 transmembrane segments lack some of the charged residues (K and R) found at every third position in the S4s of the NaV, CaV, and KV channels. Pore-forming loops (P loops) between S5 and S6 of each domain form an EEKE sodium- ion selectivity filter a mixture between the EEEE found in the CaVs and the DEKA of NaVs.By similarity

Sequence similaritiesi

Belongs to the cation-nonselective channel family.Curated

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2301. Eukaryota.
ENOG410XNP6. LUCA.
GeneTreeiENSGT00830000128247.
HOGENOMiHOG000012967.
HOVERGENiHBG063081.
InParanoidiQ8IZF0.
OMAiMLGDSAM.
OrthoDBiEOG091G00F9.
PhylomeDBiQ8IZF0.
TreeFamiTF312843.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR028823. NALCN.
[Graphical view]
PANTHERiPTHR10037:SF214. PTHR10037:SF214. 2 hits.
PfamiPF00520. Ion_trans. 4 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IZF0-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MLKRKQSSRV EAQPVTDFGP DESLSDNADI LWINKPWVHS LLRICAIISV
60 70 80 90 100
ISVCMNTPMT FEHYPPLQYV TFTLDTLLMF LYTAEMIAKM HIRGIVKGDS
110 120 130 140 150
SYVKDRWCVF DGFMVFCLWV SLVLQVFEIA DIVDQMSPWG MLRIPRPLIM
160 170 180 190 200
IRAFRIYFRF ELPRTRITNI LKRSGEQIWS VSIFLLFFLL LYGILGVQMF
210 220 230 240 250
GTFTYHCVVN DTKPGNVTWN SLAIPDTHCS PELEEGYQCP PGFKCMDLED
260 270 280 290 300
LGLSRQELGY SGFNEIGTSI FTVYEAASQE GWVFLMYRAI DSFPRWRSYF
310 320 330 340 350
YFITLIFFLA WLVKNVFIAV IIETFAEIRV QFQQMWGSRS STTSTATTQM
360 370 380 390 400
FHEDAAGGWQ LVAVDVNKPQ GRAPACLQKM MRSSVFHMFI LSMVTVDVIV
410 420 430 440 450
AASNYYKGEN FRRQYDEFYL AEVAFTVLFD LEALLKIWCL GFTGYISSSL
460 470 480 490 500
HKFELLLVIG TTLHVYPDLY HSQFTYFQVL RVVRLIKISP ALEDFVYKIF
510 520 530 540 550
GPGKKLGSLV VFTASLLIVM SAISLQMFCF VEELDRFTTF PRAFMSMFQI
560 570 580 590 600
LTQEGWVDVM DQTLNAVGHM WAPVVAIYFI LYHLFATLIL LSLFVAVILD
610 620 630 640 650
NLELDEDLKK LKQLKQSEAN ADTKEKLPLR LRIFEKFPNR PQMVKISKLP
660 670 680 690 700
SDFTVPKIRE SFMKQFIDRQ QQDTCCLLRS LPTTSSSSCD HSKRSAIEDN
710 720 730 740 750
KYIDQKLRKS VFSIRARNLL EKETAVTKIL RACTRQRMLS GSFEGQPAKE
760 770 780 790 800
RSILSVQHHI RQERRSLRHG SNSQRISRGK SLETLTQDHS NTVRYRNAQR
810 820 830 840 850
EDSEIKMIQE KKEQAEMKRK VQEEELRENH PYFDKPLFIV GREHRFRNFC
860 870 880 890 900
RVVVRARFNA SKTDPVTGAV KNTKYHQLYD LLGLVTYLDW VMIIVTICSC
910 920 930 940 950
ISMMFESPFR RVMHAPTLQI AEYVFVIFMS IELNLKIMAD GLFFTPTAVI
960 970 980 990 1000
RDFGGVMDIF IYLVSLIFLC WMPQNVPAES GAQLLMVLRC LRPLRIFKLV
1010 1020 1030 1040 1050
PQMRKVVREL FSGFKEIFLV SILLLTLMLV FASFGVQLFA GKLAKCNDPN
1060 1070 1080 1090 1100
IIRREDCNGI FRINVSVSKN LNLKLRPGEK KPGFWVPRVW ANPRNFNFDN
1110 1120 1130 1140 1150
VGNAMLALFE VLSLKGWVEV RDVIIHRVGP IHGIYIHVFV FLGCMIGLTL
1160 1170 1180 1190 1200
FVGVVIANFN ENKGTALLTV DQRRWEDLKS RLKIAQPLHL PPRPDNDGFR
1210 1220 1230 1240 1250
AKMYDITQHP FFKRTIALLV LAQSVLLSVK WDVEDPVTVP LATMSVVFTF
1260 1270 1280 1290 1300
IFVLEVTMKI IAMSPAGFWQ SRRNRYDLLV TSLGVVWVVL HFALLNAYTY
1310 1320 1330 1340 1350
MMGACVIVFR FFSICGKHVT LKMLLLTVVV SMYKSFFIIV GMFLLLLCYA
1360 1370 1380 1390 1400
FAGVVLFGTV KYGENINRHA NFSSAGKAIT VLFRIVTGED WNKIMHDCMV
1410 1420 1430 1440 1450
QPPFCTPDEF TYWATDCGNY AGALMYFCSF YVIIAYIMLN LLVAIIVENF
1460 1470 1480 1490 1500
SLFYSTEEDQ LLSYNDLRHF QIIWNMVDDK REGVIPTFRV KFLLRLLRGR
1510 1520 1530 1540 1550
LEVDLDKDKL LFKHMCYEME RLHNGGDVTF HDVLSMLSYR SVDIRKSLQL
1560 1570 1580 1590 1600
EELLAREQLE YTIEEEVAKQ TIRMWLKKCL KRIRAKQQQS CSIIHSLRES
1610 1620 1630 1640 1650
QQQELSRFLN PPSIETTQPS EDTNANSQDN SMQPETSSQQ QLLSPTLSDR
1660 1670 1680 1690 1700
GGSRQDAADA GKPQRKFGQW RLPSAPKPIS HSVSSVNLRF GGRTTMKSVV
1710 1720 1730
CKMNPMTDAA SCGSEVKKWW TRQLTVESDE SGDDLLDI
Length:1,738
Mass (Da):200,331
Last modified:March 1, 2003 - v1
Checksum:i296BB66C9E443151
GO
Isoform 2 (identifier: Q8IZF0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     589-668: ILLSLFVAVI...RESFMKQFID → PPSLIRDLCG...GSLSLSHNLQ
     669-1738: Missing.

Show »
Length:668
Mass (Da):76,382
Checksum:i2796438CB6835D70
GO
Isoform 3 (identifier: Q8IZF0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     216-218: NVT → LSL
     219-1738: Missing.

Show »
Length:218
Mass (Da):25,365
Checksum:i7AB53C2FDB715FBE
GO

Sequence cautioni

The sequence BAD18738 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073361177Q → P in CLIFAHDD. 1 PublicationCorresponds to variant rs786203984dbSNPEnsembl.1
Natural variantiVAR_073362312L → I in CLIFAHDD. 1 Publication1
Natural variantiVAR_076674312L → V Found in patients with neurodevelopmental disease and hypotonia; unknown pathological significance. 1 Publication1
Natural variantiVAR_073363313V → G in CLIFAHDD. 1 PublicationCorresponds to variant rs786203985dbSNPEnsembl.1
Natural variantiVAR_076675317F → C Found in patients with distal arthrogryposis and central hypertonia; unknown pathological significance. 1 Publication1
Natural variantiVAR_073364509L → S in CLIFAHDD; nearly eliminates wild-type protein expression; dominant-negative mutation. 1 PublicationCorresponds to variant rs786203987dbSNPEnsembl.1
Natural variantiVAR_073365578Y → S in CLIFAHDD; nearly eliminates wild-type protein expression; dominant-negative mutation. 1 PublicationCorresponds to variant rs786203988dbSNPEnsembl.1
Natural variantiVAR_073366590L → F in CLIFAHDD. 1 PublicationCorresponds to variant rs786203986dbSNPEnsembl.1
Natural variantiVAR_076676595V → F Found in patients with distal arthrogryposis and central hypertonia; unknown pathological significance. 1 Publication1
Natural variantiVAR_0766771020V → F Found in patients with neurodevelopmental disease and hypotonia; unknown pathological significance. 1 Publication1
Natural variantiVAR_0733671165T → P in CLIFAHDD. 1 Publication1
Natural variantiVAR_0766781181R → Q Found in patients with neurodevelopmental disease and hypotonia; unknown pathological significance. 2 Publications1
Natural variantiVAR_0705991287W → L in IHPRF1. 1 PublicationCorresponds to variant rs587777068dbSNPEnsembl.1
Natural variantiVAR_0733681446I → M in CLIFAHDD. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030188216 – 218NVT → LSL in isoform 3. 1 Publication3
Alternative sequenceiVSP_030189219 – 1738Missing in isoform 3. 1 PublicationAdd BLAST1520
Alternative sequenceiVSP_030190589 – 668ILLSL…KQFID → PPSLIRDLCGTQDACPSCLP LQPPNHLPGSQTLARLTHQA LTTPPGMRSSQLFSKISLLL GICVAWESILGSLSLSHNLQ in isoform 2. 1 PublicationAdd BLAST80
Alternative sequenceiVSP_030191669 – 1738Missing in isoform 2. 1 PublicationAdd BLAST1070

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY141972 mRNA. Translation: AAN10255.1.
AL354891, AL138707, AL356778 Genomic DNA. Translation: CAH73919.1.
AL356778, AL138707, AL354891 Genomic DNA. Translation: CAI16648.1.
AL138707, AL354891, AL356778 Genomic DNA. Translation: CAI40711.1.
CH471085 Genomic DNA. Translation: EAX09045.1.
BC028390 mRNA. Translation: AAH28390.1.
BC064343 mRNA. Translation: AAH64343.1.
AE014293 Genomic DNA. Translation: AAN16023.1.
AK172752 mRNA. Translation: BAD18738.1. Different initiation.
CCDSiCCDS9498.1. [Q8IZF0-1]
RefSeqiNP_443099.1. NM_052867.2. [Q8IZF0-1]
XP_011519370.1. XM_011521068.2. [Q8IZF0-1]
UniGeneiHs.525146.

Genome annotation databases

EnsembliENST00000251127; ENSP00000251127; ENSG00000102452. [Q8IZF0-1]
ENST00000376200; ENSP00000365373; ENSG00000102452. [Q8IZF0-3]
GeneIDi259232.
KEGGihsa:259232.
UCSCiuc001vox.2. human. [Q8IZF0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY141972 mRNA. Translation: AAN10255.1.
AL354891, AL138707, AL356778 Genomic DNA. Translation: CAH73919.1.
AL356778, AL138707, AL354891 Genomic DNA. Translation: CAI16648.1.
AL138707, AL354891, AL356778 Genomic DNA. Translation: CAI40711.1.
CH471085 Genomic DNA. Translation: EAX09045.1.
BC028390 mRNA. Translation: AAH28390.1.
BC064343 mRNA. Translation: AAH64343.1.
AE014293 Genomic DNA. Translation: AAN16023.1.
AK172752 mRNA. Translation: BAD18738.1. Different initiation.
CCDSiCCDS9498.1. [Q8IZF0-1]
RefSeqiNP_443099.1. NM_052867.2. [Q8IZF0-1]
XP_011519370.1. XM_011521068.2. [Q8IZF0-1]
UniGeneiHs.525146.

3D structure databases

ProteinModelPortaliQ8IZF0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129228. 3 interactors.
IntActiQ8IZF0. 2 interactors.
STRINGi9606.ENSP00000251127.

Chemistry databases

GuidetoPHARMACOLOGYi750.

Protein family/group databases

TCDBi1.A.1.11.15. the voltage-gated ion channel (vic) superfamily.

PTM databases

iPTMnetiQ8IZF0.
PhosphoSitePlusiQ8IZF0.
SwissPalmiQ8IZF0.

Polymorphism and mutation databases

BioMutaiNALCN.
DMDMi74750791.

Proteomic databases

PaxDbiQ8IZF0.
PeptideAtlasiQ8IZF0.
PRIDEiQ8IZF0.

Protocols and materials databases

DNASUi259232.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251127; ENSP00000251127; ENSG00000102452. [Q8IZF0-1]
ENST00000376200; ENSP00000365373; ENSG00000102452. [Q8IZF0-3]
GeneIDi259232.
KEGGihsa:259232.
UCSCiuc001vox.2. human. [Q8IZF0-1]

Organism-specific databases

CTDi259232.
DisGeNETi259232.
GeneCardsiNALCN.
H-InvDBHIX0011433.
HGNCiHGNC:19082. NALCN.
HPAiHPA031889.
HPA031890.
HPA031958.
MalaCardsiNALCN.
MIMi611549. gene.
615419. phenotype.
616266. phenotype.
neXtProtiNX_Q8IZF0.
OpenTargetsiENSG00000102452.
Orphaneti371364. Hypotonia-speech impairment-severe cognitive delay syndrome.
PharmGKBiPA162396840.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2301. Eukaryota.
ENOG410XNP6. LUCA.
GeneTreeiENSGT00830000128247.
HOGENOMiHOG000012967.
HOVERGENiHBG063081.
InParanoidiQ8IZF0.
OMAiMLGDSAM.
OrthoDBiEOG091G00F9.
PhylomeDBiQ8IZF0.
TreeFamiTF312843.

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSiNALCN. human.
GenomeRNAii259232.
PROiQ8IZF0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102452.
CleanExiHS_NALCN.
ExpressionAtlasiQ8IZF0. baseline and differential.
GenevisibleiQ8IZF0. HS.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR028823. NALCN.
[Graphical view]
PANTHERiPTHR10037:SF214. PTHR10037:SF214. 2 hits.
PfamiPF00520. Ion_trans. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNALCN_HUMAN
AccessioniPrimary (citable) accession number: Q8IZF0
Secondary accession number(s): Q6P2S6
, Q6ZMI7, Q8IZZ1, Q8TAH1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: March 1, 2003
Last modified: November 30, 2016
This is version 139 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.