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Details on Person UniProt:O60721 SLC24A1
| Class:Id | ReferenceGeneProduct:60273 |
|---|---|
| _chainChangeLog | chain:1-1099 added on Sat February 7 2015;signal peptide:1- added on Sat February 7 2015 |
| _displayName | UniProt:O60721 SLC24A1 |
| _timestamp | 2024-11-03 19:52:45 |
| chain | chain:1-1099 signal peptide:1- |
| checksum | 3911856BB088B5FD |
| comment | FUNCTION Calcium, potassium:sodium antiporter that transports 1 Ca(2+) 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 Ca(2+)(out) + K(+)(out) + 4 Na(+)(in) = Ca(2+)(in) + K(+)(in) + 4 Na(+)(out)INTERACTION Expressed in the retina, particularly in the inner segment, outer and inner nuclear layers, and ganglion cell layer.PTM The uncleaved signal sequence is required for efficient membrane targeting and proper membrane integration.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. |
| description | recommendedName: Sodium/potassium/calcium exchanger 1 alternativeName: fullName evidence="10"Na(+)/K(+)/Ca(2+)-exchange protein 1 alternativeName: fullName evidence="8"Retinal rod Na-Ca+K exchanger alternativeName: Solute carrier family 24 member 1 |
| geneName | SLC24A1 KIAA0702 NCKX1 |
| identifier | O60721 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Antiport Calcium Calcium transport Cell membrane Congenital stationary night blindness Glycoprotein Ion transport Membrane Phosphoprotein Proteomics identification Reference proteome Repeat Sensory transduction Signal Symport Transmembrane Transmembrane helix Transport Vision |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | SLC24A1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8987961] ENSEMBL:ENSG00000074621 SLC24A1 [Homo sapiens] |
| secondaryIdentifier | NCKX1_HUMAN O43485 O75184 Q17RM9 |
| sequenceLength | 1099 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:151105] UniProt:O60721-2 SLC24A1 [Homo sapiens] [ReferenceIsoform:401721] UniProt:O60721-1 SLC24A1 [Homo sapiens] [ReferenceIsoform:8970634] UniProt:O60721-3 SLC24A1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:74129] SLC24A1 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5625836] SLC24A1 F538Cfs*23 [plasma membrane] [Homo sapiens] |
| (referenceSequence) | [FragmentReplacedModification:5625842] Replacement of residues 538 to 559 by CHWHLFPLLPRDPQPHLVALIP |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:O60721 SLC24A1 (60273)
