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Q8IZF0

- NALCN_HUMAN

UniProt

Q8IZF0 - NALCN_HUMAN

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Protein

Sodium leak channel non-selective protein

Gene

NALCN

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).By similarity

GO - Molecular functioni

  1. sodium channel activity Source: Reactome
  2. voltage-gated calcium channel activity Source: RefGenome

GO - Biological processi

  1. calcium ion import Source: RefGenome
  2. calcium ion transmembrane transport Source: GOC
  3. cell death Source: UniProtKB-KW
  4. ion transmembrane transport Source: Reactome
  5. membrane depolarization during action potential Source: RefGenome
  6. sodium ion transmembrane transport Source: GOC
  7. 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

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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 proteinPRO_0000314010Add
BLAST

Proteomic databases

PaxDbiQ8IZF0.
PRIDEiQ8IZF0.

PTM databases

PhosphoSiteiQ8IZF0.

Expressioni

Gene expression databases

BgeeiQ8IZF0.
CleanExiHS_NALCN.
ExpressionAtlasiQ8IZF0. baseline and differential.
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, 1097-1157, 1212-1448.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4040CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini62 – 665ExtracellularSequence Analysis
Topological domaini88 – 10619CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini128 – 13811ExtracellularSequence AnalysisAdd
BLAST
Topological domaini159 – 18224CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini204 – 30198ExtracellularSequence AnalysisAdd
BLAST
Topological domaini323 – 38260CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini404 – 42219ExtracellularSequence AnalysisAdd
BLAST
Topological domaini444 – 4485CytoplasmicSequence Analysis
Topological domaini469 – 4768ExtracellularSequence Analysis
Topological domaini501 – 5099CytoplasmicSequence Analysis
Topological domaini531 – 57848ExtracellularSequence AnalysisAdd
BLAST
Topological domaini600 – 880281CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini902 – 92322ExtracellularSequence AnalysisAdd
BLAST
Topological domaini945 – 9528CytoplasmicSequence Analysis
Topological domaini974 – 9796ExtracellularSequence Analysis
Topological domaini998 – 101518CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini1037 – 113599ExtracellularSequence AnalysisAdd
BLAST
Topological domaini1157 – 120953CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini1228 – 12358ExtracellularSequence Analysis
Topological domaini1257 – 127721CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini1299 – 12991ExtracellularSequence Analysis
Topological domaini1317 – 133519CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini1357 – 142670ExtracellularSequence AnalysisAdd
BLAST
Topological domaini1448 – 1738291CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei41 – 6121Helical; Name=S1 of repeat ISequence AnalysisAdd
BLAST
Transmembranei67 – 8721Helical; Name=S2 of repeat ISequence AnalysisAdd
BLAST
Transmembranei107 – 12721Helical; Name=S3 of repeat ISequence AnalysisAdd
BLAST
Transmembranei139 – 15820Helical; Voltage-sensor; Name=S4 of repeat ISequence AnalysisAdd
BLAST
Transmembranei183 – 20321Helical; Name=S5 of repeat ISequence AnalysisAdd
BLAST
Transmembranei302 – 32221Helical; Name=S6 of repeat ISequence AnalysisAdd
BLAST
Transmembranei383 – 40321Helical; Name=S1 of repeat IISequence AnalysisAdd
BLAST
Transmembranei423 – 44321Helical; Name=S2 of repeat IISequence AnalysisAdd
BLAST
Transmembranei449 – 46820Helical; Name=S3 of repeat IISequence AnalysisAdd
BLAST
Transmembranei477 – 50024Helical; Voltage-sensor; Name=S4 of repeat IISequence AnalysisAdd
BLAST
Transmembranei510 – 53021Helical; Name=S5 of repeat IISequence AnalysisAdd
BLAST
Transmembranei579 – 59921Helical; Name=S6 of repeat IISequence AnalysisAdd
BLAST
Transmembranei881 – 90121Helical; Name=S1 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei924 – 94421Helical; Name=S2 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei953 – 97321Helical; Name=S3 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei980 – 99718Helical; Voltage-sensor; Name=S4 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1016 – 103621Helical; Name=S5 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1136 – 115621Helical; Name=S6 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1210 – 122718Helical; Name=S1 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1236 – 125621Helical; Name=S2 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1278 – 129821Helical; Name=S3 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1300 – 131617Helical; Voltage-sensor; Name=S4 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1336 – 135621Helical; Name=S5 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1427 – 144721Helical; Name=S6 of repeat IVSequence AnalysisAdd
BLAST

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili795 – 83036Sequence AnalysisAdd
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

Belongs to the cation-nonselective channel family.Curated

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG268129.
GeneTreeiENSGT00760000119135.
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

        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 BAD18738.1 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. 1 PublicationVSP_030188
Alternative sequencei219 – 17381520Missing in isoform 3. 1 PublicationVSP_030189Add
BLAST
Alternative sequencei589 – 66880ILLSL…KQFID → PPSLIRDLCGTQDACPSCLP LQPPNHLPGSQTLARLTHQA LTTPPGMRSSQLFSKISLLL GICVAWESILGSLSLSHNLQ in isoform 2. 1 PublicationVSP_030190Add
BLAST
Alternative sequencei669 – 17381070Missing in isoform 2. 1 PublicationVSP_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, 1097-1157, 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.
GeneTreei ENSGT00760000119135.
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

Bgeei Q8IZF0.
CleanExi HS_NALCN.
ExpressionAtlasi Q8IZF0. baseline and differential.
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: October 29, 2014
This is version 117 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