O60721 · NCKX1_HUMAN

  • Protein
    Sodium/potassium/calcium exchanger 1
  • Gene
    SLC24A1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Calcium, potassium:sodium antiporter that transports 1 Ca2+ and 1 K+ in exchange for 4 Na+ (PubMed:26631410).
Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness (PubMed:20850105).
Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation (PubMed:20850105).

Catalytic activity

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentcell surface
Cellular Componentmembrane
Cellular Componentneuronal cell body
Cellular Componentouter membrane
Cellular Componentplasma membrane
Molecular Functioncalcium channel activity
Molecular Functioncalcium, potassium:sodium antiporter activity
Molecular Functionsymporter activity
Biological Processcalcium ion import across plasma membrane
Biological Processcalcium ion transmembrane transport
Biological Processcalcium ion transport
Biological Processintracellular calcium ion homeostasis
Biological Processlong-term synaptic depression
Biological Processlong-term synaptic potentiation
Biological Processmonoatomic ion transport
Biological Processpotassium ion transmembrane transport
Biological Processresponse to light intensity
Biological Processsodium ion transmembrane transport
Biological Processvisual perception

Keywords

Enzyme and pathway databases

Protein family/group databases

Names & Taxonomy

Protein names

  • Recommended name
    Sodium/potassium/calcium exchanger 1
  • Alternative names
    • Na(+)/K(+)/Ca(2+)-exchange protein 1
    • Retinal rod Na-Ca+K exchanger
    • Solute carrier family 24 member 1

Gene names

    • Name
      SLC24A1
    • Synonyms
      KIAA0702
      , NCKX1

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    O60721
  • Secondary accessions
    • O43485
    • O75184
    • Q17RM9

Proteomes

Organism-specific databases

Subcellular Location

Features

Showing features for topological domain, transmembrane.

TypeIDPosition(s)Description
Topological domain1-452Extracellular
Transmembrane453-473Helical
Topological domain474-497Cytoplasmic
Transmembrane498-518Helical
Topological domain519-522Extracellular
Transmembrane523-543Helical
Topological domain544-563Cytoplasmic
Transmembrane564-584Helical
Topological domain585Extracellular
Transmembrane586-606Helical
Topological domain607-907Cytoplasmic
Transmembrane908-928Helical
Topological domain929-935Extracellular
Transmembrane936-956Helical
Topological domain957-971Cytoplasmic
Transmembrane972-992Helical
Topological domain993-1010Extracellular
Transmembrane1011-1031Helical
Topological domain1032-1039Cytoplasmic
Transmembrane1040-1060Helical
Topological domain1061-1068Extracellular
Transmembrane1069-1089Helical
Topological domain1090-1099Cytoplasmic

Keywords

Disease & Variants

Involvement in disease

Night blindness, congenital stationary, 1D (CSNB1D)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision. CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus.
  • See also
    MIM:613830

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_05022137in dbSNP:rs3743171
Natural variantVAR_050222311in dbSNP:rs34363823
Natural variantVAR_050223313in dbSNP:rs35571449

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 1,178 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for signal, chain, glycosylation, modified residue.

TypeIDPosition(s)Description
Signal1-?Not cleaved
ChainPRO_00002233031-1099Sodium/potassium/calcium exchanger 1
Glycosylation290N-linked (GlcNAc...) asparagine
Modified residue658Phosphoserine
Modified residue724Phosphothreonine

Post-translational modification

The uncleaved signal sequence is required for efficient membrane targeting and proper membrane integration.

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Expressed in the retina, particularly in the inner segment, outer and inner nuclear layers, and ganglion cell layer.

Gene expression databases

Organism-specific databases

Interaction

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntact
BINARY O60721NCK1 P163333EBI-1753504, EBI-389883

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for region, repeat, compositional bias.

TypeIDPosition(s)Description
Region123-150Disordered
Region169-199Disordered
Region284-304Disordered
Repeat494-534Alpha-1
Region690-901Disordered
Compositional bias752-766Acidic residues
Compositional bias767-788Basic and acidic residues
Compositional bias789-814Acidic residues
Compositional bias815-853Basic and acidic residues
Compositional bias854-894Acidic residues
Repeat979-1010Alpha-2

Sequence similarities

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoforms

Align isoforms (3)
  • Sequence status
    Complete

This entry describes 3 isoforms produced by Alternative splicing.

O60721-1

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.

  • Length
    1,099
  • Mass (Da)
    121,374
  • Last updated
    1998-08-01 v1
  • Checksum
    3911856BB088B5FD
MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEELSPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLSRRPVAKVMALEDLSKPGDGAIAVDELQDNKKLKLPSLLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSLINGLQPVPVSSNGLFCAIVLLFLMLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIISCPVSV

O60721-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

O60721-3

  • Name
    3
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 3 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
H0YH06H0YH06_HUMANSLC24A156
F5H483F5H483_HUMANSLC24A1985
F5H127F5H127_HUMANSLC24A11012

Features

Showing features for sequence conflict, alternative sequence, compositional bias.

TypeIDPosition(s)Description
Sequence conflict516in Ref. 2; AAB97832
Alternative sequenceVSP_006160631-648in isoform 2
Compositional bias752-766Acidic residues
Compositional bias767-788Basic and acidic residues
Compositional bias789-814Acidic residues
Compositional bias815-853Basic and acidic residues
Compositional bias854-894Acidic residues
Alternative sequenceVSP_054491932-961in isoform 3

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AF062921
EMBL· GenBank· DDBJ
AAC16732.1
EMBL· GenBank· DDBJ
mRNA
AF062922
EMBL· GenBank· DDBJ
AAC77912.1
EMBL· GenBank· DDBJ
mRNA
AF026132
EMBL· GenBank· DDBJ
AAB97832.1
EMBL· GenBank· DDBJ
mRNA
AC011939
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AC027220
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
BC117263
EMBL· GenBank· DDBJ
AAI17264.1
EMBL· GenBank· DDBJ
mRNA
BC143375
EMBL· GenBank· DDBJ
AAI43376.1
EMBL· GenBank· DDBJ
mRNA
AB014602
EMBL· GenBank· DDBJ
BAA31677.2
EMBL· GenBank· DDBJ
mRNA Sequence problems.

Genome annotation databases

Similar Proteins

Disclaimer

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