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Q8IZF0 (NALCN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sodium leak channel non-selective protein
Alternative name(s):
CanIon
Voltage gated channel-like protein 1
Gene names
Name:NALCN
Synonyms:VGCNL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1738 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Responsible for the background sodium ion leak current in neurons and controls neuronal excitability. Activated either by neuropeptides substance P or neurotensin. Required for normal respiratory rhythm and neonatal survival By similarity. Ref.7

Subunit structure

Interacts with UNC79 and UNC80 By similarity.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Domain

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 and are characterized by a series of positively charged amino acids at every third position.

Involvement in disease

Hypotonia, infantile, with psychomotor retardation and characteristic facies (IHPRF) [MIM:615419]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.9

Sequence similarities

Belongs to the cation-nonselective channel family.

Sequence caution

The sequence BAD18738.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CHRM3P203093EBI-7085333,EBI-2687785

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: 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.
Isoform 2 (identifier: Q8IZF0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     589-668: ILLSLFVAVI...RESFMKQFID → PPSLIRDLCG...GSLSLSHNLQ
     669-1738: Missing.
Isoform 3 (identifier: Q8IZF0-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 17381738Sodium leak channel non-selective protein
PRO_0000314010

Regions

Topological domain1 – 4040Cytoplasmic Potential
Transmembrane41 – 6121Helical; Name=S1 of repeat I; Potential
Topological domain62 – 665Extracellular Potential
Transmembrane67 – 8721Helical; Name=S2 of repeat I; Potential
Topological domain88 – 10619Cytoplasmic Potential
Transmembrane107 – 12721Helical; Name=S3 of repeat I; Potential
Topological domain128 – 13811Extracellular Potential
Transmembrane139 – 15820Helical; Voltage-sensor; Name=S4 of repeat I; Potential
Topological domain159 – 18224Cytoplasmic Potential
Transmembrane183 – 20321Helical; Name=S5 of repeat I; Potential
Topological domain204 – 30198Extracellular Potential
Transmembrane302 – 32221Helical; Name=S6 of repeat I; Potential
Topological domain323 – 38260Cytoplasmic Potential
Transmembrane383 – 40321Helical; Name=S1 of repeat II; Potential
Topological domain404 – 42219Extracellular Potential
Transmembrane423 – 44321Helical; Name=S2 of repeat II; Potential
Topological domain444 – 4485Cytoplasmic Potential
Transmembrane449 – 46820Helical; Name=S3 of repeat II; Potential
Topological domain469 – 4768Extracellular Potential
Transmembrane477 – 50024Helical; Voltage-sensor; Name=S4 of repeat II; Potential
Topological domain501 – 5099Cytoplasmic Potential
Transmembrane510 – 53021Helical; Name=S5 of repeat II; Potential
Topological domain531 – 57848Extracellular Potential
Transmembrane579 – 59921Helical; Name=S6 of repeat II; Potential
Topological domain600 – 880281Cytoplasmic Potential
Transmembrane881 – 90121Helical; Name=S1 of repeat III; Potential
Topological domain902 – 92322Extracellular Potential
Transmembrane924 – 94421Helical; Name=S2 of repeat III; Potential
Topological domain945 – 9528Cytoplasmic Potential
Transmembrane953 – 97321Helical; Name=S3 of repeat III; Potential
Topological domain974 – 9796Extracellular Potential
Transmembrane980 – 99718Helical; Voltage-sensor; Name=S4 of repeat III; Potential
Topological domain998 – 101518Cytoplasmic Potential
Transmembrane1016 – 103621Helical; Name=S5 of repeat III; Potential
Topological domain1037 – 113599Extracellular Potential
Transmembrane1136 – 115621Helical; Name=S6 of repeat III; Potential
Topological domain1157 – 120953Cytoplasmic Potential
Transmembrane1210 – 122718Helical; Name=S1 of repeat IV; Potential
Topological domain1228 – 12358Extracellular Potential
Transmembrane1236 – 125621Helical; Name=S2 of repeat IV; Potential
Topological domain1257 – 127721Cytoplasmic Potential
Transmembrane1278 – 129821Helical; Name=S3 of repeat IV; Potential
Topological domain12991Extracellular Potential
Transmembrane1300 – 131617Helical; Voltage-sensor; Name=S4 of repeat IV; Potential
Topological domain1317 – 133519Cytoplasmic Potential
Transmembrane1336 – 135621Helical; Name=S5 of repeat IV; Potential
Topological domain1357 – 142670Extracellular Potential
Transmembrane1427 – 144721Helical; Name=S6 of repeat IV; Potential
Topological domain1448 – 1738291Cytoplasmic Potential
Coiled coil795 – 83036 Potential

Natural variations

Alternative sequence216 – 2183NVT → LSL in isoform 3.
VSP_030188
Alternative sequence219 – 17381520Missing in isoform 3.
VSP_030189
Alternative sequence589 – 66880ILLSL…KQFID → PPSLIRDLCGTQDACPSCLP LQPPNHLPGSQTLARLTHQA LTTPPGMRSSQLFSKISLLL GICVAWESILGSLSLSHNLQ in isoform 2.
VSP_030190
Alternative sequence669 – 17381070Missing in isoform 2.
VSP_030191
Natural variant12871W → L in IHPRF. Ref.9
VAR_070599

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 296BB66C9E443151

FASTA1,738200,331
        10         20         30         40         50         60 
MLKRKQSSRV EAQPVTDFGP DESLSDNADI LWINKPWVHS LLRICAIISV ISVCMNTPMT 

        70         80         90        100        110        120 
FEHYPPLQYV TFTLDTLLMF LYTAEMIAKM HIRGIVKGDS SYVKDRWCVF DGFMVFCLWV 

       130        140        150        160        170        180 
SLVLQVFEIA DIVDQMSPWG MLRIPRPLIM IRAFRIYFRF ELPRTRITNI LKRSGEQIWS 

       190        200        210        220        230        240 
VSIFLLFFLL LYGILGVQMF GTFTYHCVVN DTKPGNVTWN SLAIPDTHCS PELEEGYQCP 

       250        260        270        280        290        300 
PGFKCMDLED LGLSRQELGY SGFNEIGTSI FTVYEAASQE GWVFLMYRAI DSFPRWRSYF 

       310        320        330        340        350        360 
YFITLIFFLA WLVKNVFIAV IIETFAEIRV QFQQMWGSRS STTSTATTQM FHEDAAGGWQ 

       370        380        390        400        410        420 
LVAVDVNKPQ GRAPACLQKM MRSSVFHMFI LSMVTVDVIV AASNYYKGEN FRRQYDEFYL 

       430        440        450        460        470        480 
AEVAFTVLFD LEALLKIWCL GFTGYISSSL HKFELLLVIG TTLHVYPDLY HSQFTYFQVL 

       490        500        510        520        530        540 
RVVRLIKISP ALEDFVYKIF GPGKKLGSLV VFTASLLIVM SAISLQMFCF VEELDRFTTF 

       550        560        570        580        590        600 
PRAFMSMFQI LTQEGWVDVM DQTLNAVGHM WAPVVAIYFI LYHLFATLIL LSLFVAVILD 

       610        620        630        640        650        660 
NLELDEDLKK LKQLKQSEAN ADTKEKLPLR LRIFEKFPNR PQMVKISKLP SDFTVPKIRE 

       670        680        690        700        710        720 
SFMKQFIDRQ QQDTCCLLRS LPTTSSSSCD HSKRSAIEDN KYIDQKLRKS VFSIRARNLL 

       730        740        750        760        770        780 
EKETAVTKIL RACTRQRMLS GSFEGQPAKE RSILSVQHHI RQERRSLRHG SNSQRISRGK 

       790        800        810        820        830        840 
SLETLTQDHS NTVRYRNAQR EDSEIKMIQE KKEQAEMKRK VQEEELRENH PYFDKPLFIV 

       850        860        870        880        890        900 
GREHRFRNFC RVVVRARFNA SKTDPVTGAV KNTKYHQLYD LLGLVTYLDW VMIIVTICSC 

       910        920        930        940        950        960 
ISMMFESPFR RVMHAPTLQI AEYVFVIFMS IELNLKIMAD GLFFTPTAVI RDFGGVMDIF 

       970        980        990       1000       1010       1020 
IYLVSLIFLC WMPQNVPAES GAQLLMVLRC LRPLRIFKLV PQMRKVVREL FSGFKEIFLV 

      1030       1040       1050       1060       1070       1080 
SILLLTLMLV FASFGVQLFA GKLAKCNDPN IIRREDCNGI FRINVSVSKN LNLKLRPGEK 

      1090       1100       1110       1120       1130       1140 
KPGFWVPRVW ANPRNFNFDN VGNAMLALFE VLSLKGWVEV RDVIIHRVGP IHGIYIHVFV 

      1150       1160       1170       1180       1190       1200 
FLGCMIGLTL FVGVVIANFN ENKGTALLTV DQRRWEDLKS RLKIAQPLHL PPRPDNDGFR 

      1210       1220       1230       1240       1250       1260 
AKMYDITQHP FFKRTIALLV LAQSVLLSVK WDVEDPVTVP LATMSVVFTF IFVLEVTMKI 

      1270       1280       1290       1300       1310       1320 
IAMSPAGFWQ SRRNRYDLLV TSLGVVWVVL HFALLNAYTY MMGACVIVFR FFSICGKHVT 

      1330       1340       1350       1360       1370       1380 
LKMLLLTVVV SMYKSFFIIV GMFLLLLCYA FAGVVLFGTV KYGENINRHA NFSSAGKAIT 

      1390       1400       1410       1420       1430       1440 
VLFRIVTGED WNKIMHDCMV QPPFCTPDEF TYWATDCGNY AGALMYFCSF YVIIAYIMLN 

      1450       1460       1470       1480       1490       1500 
LLVAIIVENF SLFYSTEEDQ LLSYNDLRHF QIIWNMVDDK REGVIPTFRV KFLLRLLRGR 

      1510       1520       1530       1540       1550       1560 
LEVDLDKDKL LFKHMCYEME RLHNGGDVTF HDVLSMLSYR SVDIRKSLQL EELLAREQLE 

      1570       1580       1590       1600       1610       1620 
YTIEEEVAKQ TIRMWLKKCL KRIRAKQQQS CSIIHSLRES QQQELSRFLN PPSIETTQPS 

      1630       1640       1650       1660       1670       1680 
EDTNANSQDN SMQPETSSQQ QLLSPTLSDR GGSRQDAADA GKPQRKFGQW RLPSAPKPIS 

      1690       1700       1710       1720       1730 
HSVSSVNLRF GGRTTMKSVV CKMNPMTDAA SCGSEVKKWW TRQLTVESDE SGDDLLDI 

« Hide

Isoform 2 [UniParc].

Checksum: 2796438CB6835D70
Show »

FASTA66876,382
Isoform 3 [UniParc].

Checksum: 7AB53C2FDB715FBE
Show »

FASTA21825,365

References

« Hide 'large scale' references
[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).
Tissue: Brain.
[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. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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).
Tissue: Bone and Brain.
[5]"Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia."
Chumakov I., Blumenfeld M., Guerassimenko O., Cavarec L., Palicio M., Abderrahim H., Bougueleret L., Barry C., Tanaka H., La Rosa P., Puech A., Tahri N., Cohen-Akenine A., Delabrosse S., Lissarrague S., Picard F.-P., Maurice K., Essioux L. expand/collapse author list , Millasseau P., Grel P., Debailleul V., Simon A.-M., Caterina D., Dufaure I., Malekzadeh K., Belova M., Luan J.-J., Bouillot M., Sambucy J.-L., Primas G., Saumier M., Boubkiri N., Martin-Saumier S., Nasroune M., Peixoto H., Delaye A., Pinchot V., Bastucci M., Guillou S., Chevillon M., Sainz-Fuertes R., Meguenni S., Aurich-Costa J., Cherif D., Gimalac A., Van Duijn C., Gauvreau D., Ouellette G., Fortier I., Raelson J., Sherbatich T., Riazanskay N., Rogaev E., Raeymaekers P., Aerssens J., Konings F., Luyten W., Macciardi F., Sham P.C., Straub R.E., Weinberger D.R., Cohen N., Cohen D.
Proc. Natl. Acad. Sci. U.S.A. 99:13675-13680(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-266.
[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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1428-1738.
[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.
[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 IHPRF.
[9]"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 IHPRF LEU-1287.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS9498.1. [Q8IZF0-1]
RefSeqNP_443099.1. NM_052867.2. [Q8IZF0-1]
UniGeneHs.525146.

3D structure databases

ProteinModelPortalQ8IZF0.
SMRQ8IZF0. Positions 892-1043, 1212-1448.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129228. 1 interaction.
IntActQ8IZF0. 1 interaction.
STRING9606.ENSP00000251127.

Chemistry

ChEMBLCHEMBL1628464.
GuidetoPHARMACOLOGY750.

Protein family/group databases

TCDB1.A.1.11.15. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSiteQ8IZF0.

Polymorphism databases

DMDM74750791.

Proteomic databases

PaxDbQ8IZF0.
PRIDEQ8IZF0.

Protocols and materials databases

DNASU259232.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000251127; ENSP00000251127; ENSG00000102452. [Q8IZF0-1]
ENST00000376200; ENSP00000365373; ENSG00000102452. [Q8IZF0-3]
GeneID259232.
KEGGhsa:259232.
UCSCuc001vox.1. human. [Q8IZF0-1]

Organism-specific databases

CTD259232.
GeneCardsGC13M101706.
H-InvDBHIX0011433.
HGNCHGNC:19082. NALCN.
HPAHPA031889.
HPA031890.
HPA031958.
MIM611549. gene.
615419. phenotype.
neXtProtNX_Q8IZF0.
Orphanet371364. Hypotonia-speech impairment-severe cognitive delay syndrome.
PharmGKBPA162396840.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG268129.
HOGENOMHOG000012967.
HOVERGENHBG063081.
InParanoidQ8IZF0.
OMADTHCSRE.
OrthoDBEOG7B5WV1.
PhylomeDBQ8IZF0.
TreeFamTF312843.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ8IZF0.
BgeeQ8IZF0.
CleanExHS_NALCN.
GenevestigatorQ8IZF0.

Family and domain databases

Gene3D1.20.120.350. 3 hits.
InterProIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR028823. NALCN.
[Graphical view]
PANTHERPTHR10037:SF176. PTHR10037:SF176. 1 hit.
PfamPF00520. Ion_trans. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNALCN. human.
GenomeRNAi259232.
NextBio93066.
PROQ8IZF0.
SOURCESearch...

Entry information

Entry nameNALCN_HUMAN
AccessionPrimary (citable) accession number: Q8IZF0
Secondary accession number(s): Q6P2S6 expand/collapse secondary AC list , Q6ZMI7, Q8IZZ1, Q8TAH1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 114 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM