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Q8IZF0

- NALCN_HUMAN

UniProt

Q8IZF0 - NALCN_HUMAN

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
    • BLAST
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    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. 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. 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

    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

    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

    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.
    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.
    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. 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, 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

    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 1, 2014
    This is version 116 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