O60721 · NCKX1_HUMAN
- ProteinSodium/potassium/calcium exchanger 1
- GeneSLC24A1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1099 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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
- Ca2+(out) + K+(out) + 4 Na+(in) = Ca2+(in) + K+(in) + 4 Na+(out)Ca2+ (out)CHEBI:29108
+ K+ (out)CHEBI:29103+ 4 Na+ (in)CHEBI:29101= Ca2+ (in)CHEBI:29108+ K+ (in)CHEBI:29103+ 4 Na+ (out)CHEBI:29101
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aspect | Term | |
---|---|---|
Cellular Component | cell surface | |
Cellular Component | membrane | |
Cellular Component | neuronal cell body | |
Cellular Component | outer membrane | |
Cellular Component | plasma membrane | |
Molecular Function | calcium channel activity | |
Molecular Function | calcium, potassium:sodium antiporter activity | |
Molecular Function | symporter activity | |
Biological Process | calcium ion import across plasma membrane | |
Biological Process | calcium ion transmembrane transport | |
Biological Process | calcium ion transport | |
Biological Process | intracellular calcium ion homeostasis | |
Biological Process | long-term synaptic depression | |
Biological Process | long-term synaptic potentiation | |
Biological Process | monoatomic ion transport | |
Biological Process | potassium ion transmembrane transport | |
Biological Process | response to light intensity | |
Biological Process | sodium ion transmembrane transport | |
Biological Process | visual perception |
Keywords
- Biological process
- Ligand
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameSodium/potassium/calcium exchanger 1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO60721
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-452 | Extracellular | ||||
Sequence: MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEELSPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQ | ||||||
Transmembrane | 453-473 | Helical | ||||
Sequence: GWVVLHVFGMMYVFVALAIVC | ||||||
Topological domain | 474-497 | Cytoplasmic | ||||
Sequence: DEYFVPALGVITDKLQISEDVAGA | ||||||
Transmembrane | 498-518 | Helical | ||||
Sequence: TFMAAGGSAPELFTSLIGVFI | ||||||
Topological domain | 519-522 | Extracellular | ||||
Sequence: SHSN | ||||||
Transmembrane | 523-543 | Helical | ||||
Sequence: VGIGTIVGSAVFNILFVIGTC | ||||||
Topological domain | 544-563 | Cytoplasmic | ||||
Sequence: SLFSREILNLTWWPLFRDVS | ||||||
Transmembrane | 564-584 | Helical | ||||
Sequence: FYILDLIMLILFFLDSLIAWW | ||||||
Topological domain | 585 | Extracellular | ||||
Sequence: E | ||||||
Transmembrane | 586-606 | Helical | ||||
Sequence: SLLLLLAYAFYVFTMKWNKHI | ||||||
Topological domain | 607-907 | Cytoplasmic | ||||
Sequence: EVWVKEQLSRRPVAKVMALEDLSKPGDGAIAVDELQDNKKLKLPSLLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQK | ||||||
Transmembrane | 908-928 | Helical | ||||
Sequence: QAIYLFLLPIVFPLWLTVPDV | ||||||
Topological domain | 929-935 | Extracellular | ||||
Sequence: RRQESRK | ||||||
Transmembrane | 936-956 | Helical | ||||
Sequence: FFVFTFLGSIMWIAMFSYLMV | ||||||
Topological domain | 957-971 | Cytoplasmic | ||||
Sequence: WWAHQVGETIGISEE | ||||||
Transmembrane | 972-992 | Helical | ||||
Sequence: IMGLTILAAGTSIPDLITSVI | ||||||
Topological domain | 993-1010 | Extracellular | ||||
Sequence: VARKGLGDMAVSSSVGSN | ||||||
Transmembrane | 1011-1031 | Helical | ||||
Sequence: IFDITVGLPVPWLLFSLINGL | ||||||
Topological domain | 1032-1039 | Cytoplasmic | ||||
Sequence: QPVPVSSN | ||||||
Transmembrane | 1040-1060 | Helical | ||||
Sequence: GLFCAIVLLFLMLLFVISSIA | ||||||
Topological domain | 1061-1068 | Extracellular | ||||
Sequence: SCKWRMNK | ||||||
Transmembrane | 1069-1089 | Helical | ||||
Sequence: ILGFTMFLLYFVFLIISVMLE | ||||||
Topological domain | 1090-1099 | Cytoplasmic | ||||
Sequence: DRIISCPVSV |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Night blindness, congenital stationary, 1D (CSNB1D)
- Note
- DescriptionAn 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 alsoMIM:613830
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_050221 | 37 | in dbSNP:rs3743171 | |||
Sequence: T → S | ||||||
Natural variant | VAR_050222 | 311 | in dbSNP:rs34363823 | |||
Sequence: V → L | ||||||
Natural variant | VAR_050223 | 313 | in dbSNP:rs35571449 | |||
Sequence: L → V |
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.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, glycosylation, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-? | Not cleaved | ||||
Chain | PRO_0000223303 | 1-1099 | Sodium/potassium/calcium exchanger 1 | |||
Sequence: MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEELSPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLSRRPVAKVMALEDLSKPGDGAIAVDELQDNKKLKLPSLLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSLINGLQPVPVSSNGLFCAIVLLFLMLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIISCPVSV | ||||||
Glycosylation | 290 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Modified residue | 658 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 724 | Phosphothreonine | ||||
Sequence: T |
Post-translational modification
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | O60721 | NCK1 P16333 | 3 | EBI-1753504, EBI-389883 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, repeat, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 123-150 | Disordered | ||||
Sequence: PTTTKNNYSPTAAGTERRKEDTPTSSRT | ||||||
Region | 169-199 | Disordered | ||||
Sequence: TPRGEMKSYSPTQVREKVKYTPSPRGRRVGT | ||||||
Region | 284-304 | Disordered | ||||
Sequence: PRRVESNSSAHPWGLVGKSNP | ||||||
Repeat | 494-534 | Alpha-1 | ||||
Sequence: VAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVF | ||||||
Region | 690-901 | Disordered | ||||
Sequence: EKEEESLNQGARAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDW | ||||||
Compositional bias | 752-766 | Acidic residues | ||||
Sequence: STGEMPGEEGETAGE | ||||||
Compositional bias | 767-788 | Basic and acidic residues | ||||
Sequence: GETEEKSGGETQPEGEGETETQ | ||||||
Compositional bias | 789-814 | Acidic residues | ||||
Sequence: GKGEECEDENEAEGKGDNEGEDEGEI | ||||||
Compositional bias | 815-853 | Basic and acidic residues | ||||
Sequence: HAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGG | ||||||
Compositional bias | 854-894 | Acidic residues | ||||
Sequence: SDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNE | ||||||
Repeat | 979-1010 | Alpha-2 | ||||
Sequence: AAGTSIPDLITSVIVARKGLGDMAVSSSVGSN |
Sequence similarities
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
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.
- Name1
- Length1,099
- Mass (Da)121,374
- Last updated1998-08-01 v1
- Checksum3911856BB088B5FD
O60721-2
- Name2
- Differences from canonical
- 631-648: Missing
O60721-3
- Name3
- Differences from canonical
- 932-961: Missing
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Features
Showing features for sequence conflict, alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 516 | in Ref. 2; AAB97832 | ||||
Sequence: V → I | ||||||
Alternative sequence | VSP_006160 | 631-648 | in isoform 2 | |||
Sequence: Missing | ||||||
Compositional bias | 752-766 | Acidic residues | ||||
Sequence: STGEMPGEEGETAGE | ||||||
Compositional bias | 767-788 | Basic and acidic residues | ||||
Sequence: GETEEKSGGETQPEGEGETETQ | ||||||
Compositional bias | 789-814 | Acidic residues | ||||
Sequence: GKGEECEDENEAEGKGDNEGEDEGEI | ||||||
Compositional bias | 815-853 | Basic and acidic residues | ||||
Sequence: HAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGG | ||||||
Compositional bias | 854-894 | Acidic residues | ||||
Sequence: SDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNE | ||||||
Alternative sequence | VSP_054491 | 932-961 | in isoform 3 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
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. |