Reactome | UniProt:Q8NFF2 SLC24A4

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UniProt:Q8NFF2 SLC24A4 Show undefined attributes

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.
crossReference	[DatabaseIdentifier:12373768] RefSeq:NP_001412183.1 [DatabaseIdentifier:12373767] RefSeq:NP_705934.1 [DatabaseIdentifier:12373766] RefSeq:NP_705933.2 [DatabaseIdentifier:12373769] RefSeq:NP_705932.2 [DatabaseIdentifier:12373770] RefSeq:NP_001365549.1 [DatabaseIdentifier:12287083] Pharos - Targets:Q8NFF2 [DatabaseIdentifier:12267451] PRO:Q8NFF2 [DatabaseIdentifier:12138066] Orphanet:SLC24A4 [DatabaseIdentifier:12126830] OpenTargets:ENSG00000140090 [DatabaseIdentifier:11842237] HPA:ENSG00000140090-SLC24A4 [DatabaseIdentifier:11834369] HMDB Protein:HMDBP03054 [DatabaseIdentifier:11804833] GlyGen:Q8NFF2 [DatabaseIdentifier:11789210] GeneCards:SLC24A4 [DatabaseIdentifier:11781230] Guide to Pharmacology - Targets:1048 [DatabaseIdentifier:11696253] ENSEMBL:ENST00000532405 [DatabaseIdentifier:11696250] ENSEMBL:ENST00000676001 [DatabaseIdentifier:11696252] ENSEMBL:ENST00000393265 [DatabaseIdentifier:11696251] ENSEMBL:ENST00000531433 [DatabaseIdentifier:11573554] ENSEMBL:ENSP00000502715 [DatabaseIdentifier:11573551] ENSEMBL:ENSP00000376948 [DatabaseIdentifier:11573552] ENSEMBL:ENSP00000431840 [DatabaseIdentifier:11573553] ENSEMBL:ENSP00000433302 [DatabaseIdentifier:11474681] ENSEMBL:ENSG00000140090
databaseName	UniProt
dbId	96384
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
displayName	UniProt:Q8NFF2 SLC24A4
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:9963647] Weiser, Joel, 2025-08-15
moleculeType	Protein
name	SLC24A4
otherIdentifier	11735593_a_at 11735594_a_at 123041 1568870_PM_at 1568870_at 1568922_PM_at 1568922_at 16787564 243969_PM_at 243969_at 3548853 3548854 3548855 3548856 3548857 3548858 3548859 3548860 3548861 3548862 3548863 3548864 3548868 3548869 3548883 3548885 3548886 3548888 3548889 3548890 3548891 3548892 3548893 3548894 3548895 3548896 3548897 3548898 3548899 3548900 3548902 3548903 3548904 3548906 3548907 3548912 3548914 3548916 3548917 3548920 3548923 3548924 3548925 3548927 3548928 7976263 86080_at A_14_P127959 A_23_P503010 A_33_P3318148 GE526582 GE795459 GO:0005262 GO:0005516 GO:0005737 GO:0005886 GO:0006811 GO:0006813 GO:0006814 GO:0006816 GO:0006874 GO:0007602 GO:0007608 GO:0008273 GO:0008277 GO:0009644 GO:0010628 GO:0015293 GO:0015297 GO:0016020 GO:0016324 GO:0021630 GO:0031982 GO:0035725 GO:0036368 GO:0042756 GO:0043226 GO:0048306 GO:0050849 GO:0050877 GO:0050911 GO:0055074 GO:0055085 GO:0070166 GO:0070588 GO:0071486 GO:0071805 GO:0071944 GO:0086009 GO:0097186 GO:0098703 GO:0120199 GO:1903998 GO:1990034 GO:1990680 GO:1990834 HMNXSV003008725 Hs.177386.0.A1_3p_at Hs2.385530.1.S1_3p_at Hs2.385743.1.S1_3p_at ILMN_1675391 ILMN_1815949 ILMN_2370738 PH_hs_0010544 TC14000570.hg TC14001815.hg
physicalEntity	[EntityWithAccessionedSequence:R-HSA-5626265] SLC24A4 A146V [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5626243] SLC24A4 S499C [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5626257] SLC24A4 R339* [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-425682] SLC24A4 [plasma membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12739481] UCSC:Q8NFF2 SLC24A4 [ReferenceDNASequence:12111775] OMIM:609840 SLC24A4 [ReferenceDNASequence:12053844] NCBI Gene:123041 SLC24A4 [ReferenceDNASequence:11969751] Monarch:123041 SLC24A4 [ReferenceDNASequence:11880776] KEGG:hsa:123041 SLC24A4 [ReferenceDNASequence:11820867] HGNC:10978 SLC24A4 [ReferenceDNASequence:11436869] dbSNP Gene:123041 SLC24A4 [ReferenceDNASequence:11415798] CTD Gene:123041 SLC24A4 [ReferenceDNASequence:11399830] COSMIC - genes:SLC24A4 SLC24A4 [ReferenceDNASequence:11339962] BioGPS Gene:123041 SLC24A4 [ReferenceDNASequence:ensembl:ENSG00000140090] ENSEMBL:ENSG00000140090 SLC24A4
referenceTranscript	[ReferenceRNASequence:12555539] RefSeq:NM_153647.4 SLC24A4 [ReferenceRNASequence:12555541] RefSeq:NM_001425254.1 SLC24A4 [ReferenceRNASequence:12555540] RefSeq:NM_153646.4 SLC24A4 [ReferenceRNASequence:12555538] RefSeq:NM_153648.4 SLC24A4 [ReferenceRNASequence:12555542] RefSeq:NM_001378620.1 SLC24A4
schemaClass	ReferenceGeneProduct
secondaryIdentifier	NCKX4_HUMAN B4DHE7 B9ZVY2 Q8N8U6 Q8NCX1 Q8NFF0 Q8NFF1
sequenceLength	622
species	[Species:48887] Homo sapiens
stId	uniprot:Q8NFF2
url	http://purl.uniprot.org/uniprot/Q8NFF2

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-5626265] SLC24A4 A146V [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5626243] SLC24A4 S499C [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5626257] SLC24A4 R339* [plasma membrane] [EntityWithAccessionedSequence:R-HSA-425682] SLC24A4 [plasma membrane]
(referenceSequence)	[ReplacedResidue:5626262] L-alanine 146 replaced with L-valine [ReplacedResidue:5626271] L-serine 499 replaced with L-cysteine [NonsenseMutation:5626267] Nonsense mutation at L-arginine 339