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Details on Person UniProt:Q8NFF2 SLC24A4
| Class:Id | ReferenceGeneProduct:96384 |
|---|---|
| _chainChangeLog | signal peptide:1-38 added on Fri February 6 2015;chain:39-622 added on Fri February 6 2015 |
| _displayName | UniProt:Q8NFF2 SLC24A4 |
| _timestamp | 2025-08-15 22:09:56 |
| chain | signal peptide:1-38 chain:39-622 |
| checksum | 00D69370E55EE388 |
| comment | FUNCTION Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) (PubMed:12379639, PubMed:26631410). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived (By similarity). May play a role in calcium transport during amelogenesis (PubMed:23375655, PubMed:24621671).CATALYTIC ACTIVITY Ca(2+)(out) + K(+)(out) + 4 Na(+)(in) = Ca(2+)(in) + K(+)(in) + 4 Na(+)(out)SUBCELLULAR LOCATION Expressed abundantly in all regions of the brain, aorta, lung and thymus (PubMed:12379639). Expressed at lower levels in the stomach and intestine (PubMed:12379639).POLYMORPHISM Genetic variants in SLC24A4 define the skin/hair/eye pigmentation variation locus 6 (SHEP6) [MIM:210750]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.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.CAUTION It is uncertain whether Met-1 or Met-18 is the initiator.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Probable cloning artifact.SEQUENCE CAUTION Truncated N-terminus. |
| description | recommendedName: Sodium/potassium/calcium exchanger 4 alternativeName: fullName evidence="13"Na(+)/K(+)/Ca(2+)-exchange protein 4 alternativeName: Solute carrier family 24 member 4 |
| geneName | SLC24A4 NCKX4 |
| identifier | Q8NFF2 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Amelogenesis imperfecta Antiport Calcium Calcium transport Cell membrane Cytoplasm Disease variant Glycoprotein Ion transport Membrane Olfaction Potassium Potassium transport Proteomics identification Reference proteome Repeat Sensory transduction Signal Sodium Sodium transport Symport Transmembrane Transmembrane helix Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | SLC24A4 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8990845] ENSEMBL:ENSG00000140090 SLC24A4 [Homo sapiens] |
| secondaryIdentifier | NCKX4_HUMAN B4DHE7 B9ZVY2 Q8N8U6 Q8NCX1 Q8NFF0 Q8NFF1 |
| sequenceLength | 622 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:151112] UniProt:Q8NFF2-2 SLC24A4 [Homo sapiens] [ReferenceIsoform:151113] UniProt:Q8NFF2-3 SLC24A4 [Homo sapiens] [ReferenceIsoform:151114] UniProt:Q8NFF2-4 SLC24A4 [Homo sapiens] [ReferenceIsoform:411581] UniProt:Q8NFF2-1 SLC24A4 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:425682] SLC24A4 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5626243] SLC24A4 S499C [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5626257] SLC24A4 R339* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5626265] SLC24A4 A146V [plasma membrane] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:5626262] L-alanine 146 replaced with L-valine [NonsenseMutation:5626267] Nonsense mutation at L-arginine 339 [ReplacedResidue:5626271] L-serine 499 replaced with L-cysteine |
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No pathways have been reviewed or authored by UniProt:Q8NFF2 SLC24A4 (96384)
