Reactome: A Curated Pathway Database
THIS SITE IS USED FOR CURATION AND TESTING
IT IS NOT STABLE, IS LINKED TO AN INCOMPLETE DATA SET, AND IS NOT MONITORED FOR PERFORMANCE. WE STRONGLY RECOMMEND THE USE OF OUR PUBLIC SITE

Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.

Name Email address

Details on Person UniProt:O60721 SLC24A1

Class:IdReferenceGeneProduct:60273
_chainChangeLogchain:1-1099 added on Sat February 7 2015;signal peptide:1- added on Sat February 7 2015
_displayNameUniProt:O60721 SLC24A1
_timestamp2024-11-03 19:52:45
chainchain:1-1099
signal peptide:1-
checksum3911856BB088B5FD
commentFUNCTION 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.
descriptionrecommendedName: 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
geneNameSLC24A1
KIAA0702
NCKX1
identifierO60721
isSequenceChangedFALSE
keywordAlternative 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
nameSLC24A1
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8987961] ENSEMBL:ENSG00000074621 SLC24A1 [Homo sapiens]
secondaryIdentifierNCKX1_HUMAN
O43485
O75184
Q17RM9
sequenceLength1099
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)