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Q8IZF0

- NALCN_HUMAN

UniProt

Q8IZF0 - NALCN_HUMAN

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Protein
Sodium leak channel non-selective protein
Gene
NALCN, VGCNL1
Organism
Homo sapiens (Human)
Status
Reviewed - 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. 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.1 Publication

GO - Molecular functioni

  1. protein binding Source: IntAct
  2. sodium channel activity Source: Reactome
  3. voltage-gated calcium channel activity Source: RefGenome

GO - Biological processi

  1. calcium ion import Source: RefGenome
  2. cell death Source: UniProtKB-KW
  3. ion transmembrane transport Source: Reactome
  4. membrane depolarization during action potential Source: RefGenome
  5. sodium ion transmembrane transport Source: GOC
  6. transmembrane transport Source: Reactome
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

ReactomeiREACT_160189. 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
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:19082. NALCN.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4040Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei41 – 6121Helical; Name=S1 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini62 – 665Extracellular Reviewed prediction
Transmembranei67 – 8721Helical; Name=S2 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini88 – 10619Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei107 – 12721Helical; Name=S3 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini128 – 13811Extracellular Reviewed prediction
Add
BLAST
Transmembranei139 – 15820Helical; Voltage-sensor; Name=S4 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini159 – 18224Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei183 – 20321Helical; Name=S5 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini204 – 30198Extracellular Reviewed prediction
Add
BLAST
Transmembranei302 – 32221Helical; Name=S6 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini323 – 38260Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei383 – 40321Helical; Name=S1 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini404 – 42219Extracellular Reviewed prediction
Add
BLAST
Transmembranei423 – 44321Helical; Name=S2 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini444 – 4485Cytoplasmic Reviewed prediction
Transmembranei449 – 46820Helical; Name=S3 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini469 – 4768Extracellular Reviewed prediction
Transmembranei477 – 50024Helical; Voltage-sensor; Name=S4 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini501 – 5099Cytoplasmic Reviewed prediction
Transmembranei510 – 53021Helical; Name=S5 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini531 – 57848Extracellular Reviewed prediction
Add
BLAST
Transmembranei579 – 59921Helical; Name=S6 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini600 – 880281Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei881 – 90121Helical; Name=S1 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini902 – 92322Extracellular Reviewed prediction
Add
BLAST
Transmembranei924 – 94421Helical; Name=S2 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini945 – 9528Cytoplasmic Reviewed prediction
Transmembranei953 – 97321Helical; Name=S3 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini974 – 9796Extracellular Reviewed prediction
Transmembranei980 – 99718Helical; Voltage-sensor; Name=S4 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini998 – 101518Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1016 – 103621Helical; Name=S5 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1037 – 113599Extracellular Reviewed prediction
Add
BLAST
Transmembranei1136 – 115621Helical; Name=S6 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1157 – 120953Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1210 – 122718Helical; Name=S1 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1228 – 12358Extracellular Reviewed prediction
Transmembranei1236 – 125621Helical; Name=S2 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1257 – 127721Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1278 – 129821Helical; Name=S3 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1299 – 12991Extracellular Reviewed prediction
Transmembranei1300 – 131617Helical; Voltage-sensor; Name=S4 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1317 – 133519Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1336 – 135621Helical; Name=S5 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1357 – 142670Extracellular Reviewed prediction
Add
BLAST
Transmembranei1427 – 144721Helical; Name=S6 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1448 – 1738291Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: RefGenome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1287 – 12871W → L in IHPRF. 1 Publication
VAR_070599

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

MIMi615419. phenotype.
Orphaneti371364. Hypotonia-speech impairment-severe cognitive delay syndrome.
PharmGKBiPA162396840.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 17381738Sodium leak channel non-selective protein
PRO_0000314010Add
BLAST

Proteomic databases

PaxDbiQ8IZF0.
PRIDEiQ8IZF0.

PTM databases

PhosphoSiteiQ8IZF0.

Expressioni

Gene expression databases

ArrayExpressiQ8IZF0.
BgeeiQ8IZF0.
CleanExiHS_NALCN.
GenevestigatoriQ8IZF0.

Organism-specific databases

HPAiHPA031889.
HPA031890.
HPA031958.

Interactioni

Subunit structurei

Interacts with UNC79 and UNC80 By similarity.

Binary interactionsi

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

Protein-protein interaction databases

BioGridi129228. 1 interaction.
IntActiQ8IZF0. 1 interaction.
STRINGi9606.ENSP00000251127.

Structurei

3D structure databases

ProteinModelPortaliQ8IZF0.
SMRiQ8IZF0. Positions 892-1043, 1212-1448.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili795 – 83036 Reviewed prediction
Add
BLAST

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

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG268129.
HOGENOMiHOG000012967.
HOVERGENiHBG063081.
InParanoidiQ8IZF0.
OMAiDTHCSRE.
OrthoDBiEOG7B5WV1.
PhylomeDBiQ8IZF0.
TreeFamiTF312843.

Family and domain databases

Gene3Di1.20.120.350. 3 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR028823. NALCN.
[Graphical view]
PANTHERiPTHR10037:SF176. PTHR10037:SF176. 1 hit.
PfamiPF00520. Ion_trans. 4 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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

MLKRKQSSRV EAQPVTDFGP DESLSDNADI LWINKPWVHS LLRICAIISV     50
ISVCMNTPMT FEHYPPLQYV TFTLDTLLMF LYTAEMIAKM HIRGIVKGDS 100
SYVKDRWCVF DGFMVFCLWV SLVLQVFEIA DIVDQMSPWG MLRIPRPLIM 150
IRAFRIYFRF ELPRTRITNI LKRSGEQIWS VSIFLLFFLL LYGILGVQMF 200
GTFTYHCVVN DTKPGNVTWN SLAIPDTHCS PELEEGYQCP PGFKCMDLED 250
LGLSRQELGY SGFNEIGTSI FTVYEAASQE GWVFLMYRAI DSFPRWRSYF 300
YFITLIFFLA WLVKNVFIAV IIETFAEIRV QFQQMWGSRS STTSTATTQM 350
FHEDAAGGWQ LVAVDVNKPQ GRAPACLQKM MRSSVFHMFI LSMVTVDVIV 400
AASNYYKGEN FRRQYDEFYL AEVAFTVLFD LEALLKIWCL GFTGYISSSL 450
HKFELLLVIG TTLHVYPDLY HSQFTYFQVL RVVRLIKISP ALEDFVYKIF 500
GPGKKLGSLV VFTASLLIVM SAISLQMFCF VEELDRFTTF PRAFMSMFQI 550
LTQEGWVDVM DQTLNAVGHM WAPVVAIYFI LYHLFATLIL LSLFVAVILD 600
NLELDEDLKK LKQLKQSEAN ADTKEKLPLR LRIFEKFPNR PQMVKISKLP 650
SDFTVPKIRE SFMKQFIDRQ QQDTCCLLRS LPTTSSSSCD HSKRSAIEDN 700
KYIDQKLRKS VFSIRARNLL EKETAVTKIL RACTRQRMLS GSFEGQPAKE 750
RSILSVQHHI RQERRSLRHG SNSQRISRGK SLETLTQDHS NTVRYRNAQR 800
EDSEIKMIQE KKEQAEMKRK VQEEELRENH PYFDKPLFIV GREHRFRNFC 850
RVVVRARFNA SKTDPVTGAV KNTKYHQLYD LLGLVTYLDW VMIIVTICSC 900
ISMMFESPFR RVMHAPTLQI AEYVFVIFMS IELNLKIMAD GLFFTPTAVI 950
RDFGGVMDIF IYLVSLIFLC WMPQNVPAES GAQLLMVLRC LRPLRIFKLV 1000
PQMRKVVREL FSGFKEIFLV SILLLTLMLV FASFGVQLFA GKLAKCNDPN 1050
IIRREDCNGI FRINVSVSKN LNLKLRPGEK KPGFWVPRVW ANPRNFNFDN 1100
VGNAMLALFE VLSLKGWVEV RDVIIHRVGP IHGIYIHVFV FLGCMIGLTL 1150
FVGVVIANFN ENKGTALLTV DQRRWEDLKS RLKIAQPLHL PPRPDNDGFR 1200
AKMYDITQHP FFKRTIALLV LAQSVLLSVK WDVEDPVTVP LATMSVVFTF 1250
IFVLEVTMKI IAMSPAGFWQ SRRNRYDLLV TSLGVVWVVL HFALLNAYTY 1300
MMGACVIVFR FFSICGKHVT LKMLLLTVVV SMYKSFFIIV GMFLLLLCYA 1350
FAGVVLFGTV KYGENINRHA NFSSAGKAIT VLFRIVTGED WNKIMHDCMV 1400
QPPFCTPDEF TYWATDCGNY AGALMYFCSF YVIIAYIMLN LLVAIIVENF 1450
SLFYSTEEDQ LLSYNDLRHF QIIWNMVDDK REGVIPTFRV KFLLRLLRGR 1500
LEVDLDKDKL LFKHMCYEME RLHNGGDVTF HDVLSMLSYR SVDIRKSLQL 1550
EELLAREQLE YTIEEEVAKQ TIRMWLKKCL KRIRAKQQQS CSIIHSLRES 1600
QQQELSRFLN PPSIETTQPS EDTNANSQDN SMQPETSSQQ QLLSPTLSDR 1650
GGSRQDAADA GKPQRKFGQW RLPSAPKPIS HSVSSVNLRF GGRTTMKSVV 1700
CKMNPMTDAA SCGSEVKKWW TRQLTVESDE SGDDLLDI 1738
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 BAD18738.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1287 – 12871W → L in IHPRF. 1 Publication
VAR_070599

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei216 – 2183NVT → LSL in isoform 3.
VSP_030188
Alternative sequencei219 – 17381520Missing in isoform 3.
VSP_030189Add
BLAST
Alternative sequencei589 – 66880ILLSL…KQFID → PPSLIRDLCGTQDACPSCLP LQPPNHLPGSQTLARLTHQA LTTPPGMRSSQLFSKISLLL GICVAWESILGSLSLSHNLQ in isoform 2.
VSP_030190Add
BLAST
Alternative sequencei669 – 17381070Missing in isoform 2.
VSP_030191Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
UniGeneiHs.525146.

Genome annotation databases

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

Polymorphism databases

DMDMi74750791.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS9498.1. [Q8IZF0-1 ]
RefSeqi NP_443099.1. NM_052867.2. [Q8IZF0-1 ]
UniGenei Hs.525146.

3D structure databases

ProteinModelPortali Q8IZF0.
SMRi Q8IZF0. Positions 892-1043, 1212-1448.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129228. 1 interaction.
IntActi Q8IZF0. 1 interaction.
STRINGi 9606.ENSP00000251127.

Chemistry

ChEMBLi CHEMBL1628464.
GuidetoPHARMACOLOGYi 750.

Protein family/group databases

TCDBi 1.A.1.11.15. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSitei Q8IZF0.

Polymorphism databases

DMDMi 74750791.

Proteomic databases

PaxDbi Q8IZF0.
PRIDEi Q8IZF0.

Protocols and materials databases

DNASUi 259232.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000251127 ; ENSP00000251127 ; ENSG00000102452 . [Q8IZF0-1 ]
ENST00000376200 ; ENSP00000365373 ; ENSG00000102452 . [Q8IZF0-3 ]
GeneIDi 259232.
KEGGi hsa:259232.
UCSCi uc001vox.1. human. [Q8IZF0-1 ]

Organism-specific databases

CTDi 259232.
GeneCardsi GC13M101706.
H-InvDB HIX0011433.
HGNCi HGNC:19082. NALCN.
HPAi HPA031889.
HPA031890.
HPA031958.
MIMi 611549. gene.
615419. phenotype.
neXtProti NX_Q8IZF0.
Orphaneti 371364. Hypotonia-speech impairment-severe cognitive delay syndrome.
PharmGKBi PA162396840.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG268129.
HOGENOMi HOG000012967.
HOVERGENi HBG063081.
InParanoidi Q8IZF0.
OMAi DTHCSRE.
OrthoDBi EOG7B5WV1.
PhylomeDBi Q8IZF0.
TreeFami TF312843.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSi NALCN. human.
GenomeRNAii 259232.
NextBioi 93066.
PROi Q8IZF0.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8IZF0.
Bgeei Q8IZF0.
CleanExi HS_NALCN.
Genevestigatori Q8IZF0.

Family and domain databases

Gene3Di 1.20.120.350. 3 hits.
InterProi IPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR028823. NALCN.
[Graphical view ]
PANTHERi PTHR10037:SF176. PTHR10037:SF176. 1 hit.
Pfami PF00520. Ion_trans. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.
    , 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.
    , 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.

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: September 3, 2014
This is version 115 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

External Data

Dasty 3

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