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Details on Person UniProt:Q71RS6 SLC24A5
| Class:Id | ReferenceGeneProduct:238967 |
|---|---|
| _chainChangeLog | signal peptide:1-29 added on Sat February 7 2015;chain:30-500 added on Sat February 7 2015 |
| _displayName | UniProt:Q71RS6 SLC24A5 |
| _timestamp | 2024-11-03 19:52:46 |
| chain | signal peptide:1-29 chain:30-500 |
| checksum | D8E91A017C9651ED |
| comment | FUNCTION Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+) (PubMed:18166528). Involved in pigmentation, possibly by participating in ion transport in melanosomes (PubMed:16357253, PubMed:18166528). Predominant sodium-calcium exchanger in melanocytes (PubMed:16357253, PubMed:18166528).CATALYTIC ACTIVITY Ca(2+)(out) + K(+)(out) + 4 Na(+)(in) = Ca(2+)(in) + K(+)(in) + 4 Na(+)(out)INTERACTION Enriched in late-stage melanosomes.ALTERNATIVE PRODUCTS Genetic variants in SLC24A5 define the skin/hair/eye pigmentation variation locus 4 (SHEP4) [MIM:113750]. 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.POLYMORPHISM The Ala-111 allele predominates (93 to 100%) in African and East Asian populations. In contrast, the Thr-111 allele is nearly fixed (98.7 to 100%) in European populations, is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations.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.ONLINE INFORMATION Skin-deep - Issue 74 of September 2006 |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: Sodium/potassium/calcium exchanger 5 alternativeName: Na(+)/K(+)/Ca(2+)-exchange protein 5 alternativeName: Solute carrier family 24 member 5 |
| geneName | SLC24A5 JSX NCKX5 |
| identifier | Q71RS6 |
| isSequenceChanged | FALSE |
| keyword | Albinism Alternative splicing Antiport Calcium Calcium transport Golgi apparatus Ion transport Membrane Potassium Potassium transport Proteomics identification Reference proteome 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 |
| name | SLC24A5 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8991418] ENSEMBL:ENSG00000188467 SLC24A5 [Homo sapiens] |
| secondaryIdentifier | NCKX5_HUMAN A5X8Z8 A5X8Z9 Q14CT4 Q6DKH3 |
| sequenceLength | 500 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8966187] UniProt:Q71RS6-1 SLC24A5 [Homo sapiens] [ReferenceIsoform:8966188] UniProt:Q71RS6-2 SLC24A5 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:425660] SLC24A5 [trans-Golgi network membrane] [Homo sapiens] [EntityWithAccessionedSequence:5626326] SLC24A5 L454Ffs*33 [trans-Golgi network membrane] [Homo sapiens] [EntityWithAccessionedSequence:5626353] SLC24A5 W591* [trans-Golgi network membrane] [Homo sapiens] |
| (referenceSequence) | [NonsenseMutation:5626355] Nonsense mutation at L-tryptophan 591 [FragmentReplacedModification:5626367] Replacement of residues 454 to 485 by FSSSLQWLETRQKVGNSLPIIILGACYIISSI |
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No pathways have been reviewed or authored by UniProt:Q71RS6 SLC24A5 (238967)
