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Protein

Sodium/potassium/calcium exchanger 5

Gene

SLC24A5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium-Calcium exchanger in melanocytes. Probably transports 1 Ca2+ and 1 K+ to the melanosome in exchange for 4 cytoplasmic Na+.2 Publications

GO - Molecular functioni

  • calcium, potassium:sodium antiporter activity Source: MGI
  • calcium channel activity Source: GO_Central
  • symporter activity Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Biological processAntiport, Calcium transport, Ion transport, Potassium transport, Sensory transduction, Sodium transport, Symport, Transport
LigandCalcium, Potassium, Sodium

Enzyme and pathway databases

ReactomeiR-HSA-425561 Sodium/Calcium exchangers
R-HSA-5619036 Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)

Protein family/group databases

TCDBi2.A.19.4.6 the ca(2+):cation antiporter (caca) family

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium/potassium/calcium exchanger 5
Alternative name(s):
Na(+)/K(+)/Ca(2+)-exchange protein 5
Solute carrier family 24 member 5
Gene namesi
Name:SLC24A5
Synonyms:JSX, NCKX5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000188467.10
HGNCiHGNC:20611 SLC24A5
MIMi609802 gene
neXtProtiNX_Q71RS6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini30 – 66ExtracellularSequence analysisAdd BLAST37
Transmembranei67 – 87Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini88 – 111CytoplasmicSequence analysisAdd BLAST24
Transmembranei112 – 132Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini133 – 136ExtracellularSequence analysis4
Transmembranei137 – 157Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini158 – 169CytoplasmicSequence analysisAdd BLAST12
Transmembranei170 – 190Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini191 – 195ExtracellularSequence analysis5
Transmembranei196 – 216Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini217 – 302CytoplasmicSequence analysisAdd BLAST86
Transmembranei303 – 323Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini324 – 333ExtracellularSequence analysis10
Transmembranei334 – 354Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini355 – 368CytoplasmicSequence analysisAdd BLAST14
Transmembranei369 – 389Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini390 – 399ExtracellularSequence analysis10
Transmembranei400 – 420Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini421 – 437CytoplasmicSequence analysisAdd BLAST17
Transmembranei438 – 458Helical; Name=10Sequence analysisAdd BLAST21
Topological domaini459 – 468ExtracellularSequence analysis10
Transmembranei469 – 489Helical; Name=11Sequence analysisAdd BLAST21
Topological domaini490 – 500CytoplasmicSequence analysisAdd BLAST11

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Albinism, oculocutaneous, 6 (OCA6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus.
See also OMIM:113750

Keywords - Diseasei

Albinism

Organism-specific databases

DisGeNETi283652
MalaCardsiSLC24A5
MIMi113750 phenotype
OpenTargetsiENSG00000188467
Orphaneti370097 Oculocutaneous albinism type 6
PharmGKBiPA134868972

Polymorphism and mutation databases

BioMutaiSLC24A5
DMDMi74749781

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 29Sequence analysisAdd BLAST29
ChainiPRO_000004575330 – 500Sodium/potassium/calcium exchanger 5Add BLAST471

Proteomic databases

PaxDbiQ71RS6
PeptideAtlasiQ71RS6
PRIDEiQ71RS6
ProteomicsDBi68623

PTM databases

iPTMnetiQ71RS6
PhosphoSitePlusiQ71RS6

Expressioni

Gene expression databases

BgeeiENSG00000188467 Expressed in 38 organ(s), highest expression level in skin of abdomen
CleanExiHS_SLC24A5
ExpressionAtlasiQ71RS6 baseline and differential

Interactioni

Protein-protein interaction databases

BioGridi129632, 3 interactors
IntActiQ71RS6, 1 interactor
STRINGi9606.ENSP00000341550

Structurei

3D structure databases

ProteinModelPortaliQ71RS6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1307 Eukaryota
ENOG410Y9YY LUCA
GeneTreeiENSGT00760000119209
HOGENOMiHOG000231933
HOVERGENiHBG054881
InParanoidiQ71RS6
KOiK13753
OMAiGFFTKQE
OrthoDBiEOG091G0M5C
PhylomeDBiQ71RS6
TreeFamiTF318759

Family and domain databases

InterProiView protein in InterPro
IPR004481 K/Na/Ca-exchanger
IPR004837 NaCa_Exmemb
IPR030245 SLC24A5
PANTHERiPTHR10846 PTHR10846, 1 hit
PTHR10846:SF27 PTHR10846:SF27, 1 hit
PfamiView protein in Pfam
PF01699 Na_Ca_ex, 2 hits
TIGRFAMsiTIGR00367 TIGR00367, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q71RS6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQTKGGQTWA RRALLLGILW ATAHLPLSGT SLPQRLPRAT GNSTQCVISP
60 70 80 90 100
SSEFPEGFFT RQERRDGGII IYFLIIVYMF MAISIVCDEY FLPSLEIISE
110 120 130 140 150
SLGLSQDVAG TTFMAAGSSA PELVTAFLGV FITKGDIGIS TILGSAIYNL
160 170 180 190 200
LGICAACGLL SNTVSTLSCW PLFRDCAAYT ISAAAVLGII YDNQVYWYEG
210 220 230 240 250
ALLLLIYGLY VLVLCFDIKI NQYIIKKCSP CCACLAKAME RSEQQPLMGW
260 270 280 290 300
EDEGQPFIRR QSRTDSGIFY EDSGYSQLSI SLHGLSQVSE DPPSVFNMPE
310 320 330 340 350
ADLKRIFWVL SLPIITLLFL TTPDCRKKFW KNYFVITFFM SAIWISAFTY
360 370 380 390 400
ILVWMVTITG ETLEIPDTVM GLTLLAAGTS IPDTIASVLV ARKGKGDMAM
410 420 430 440 450
SNIVGSNVFD MLCLGIPWFI KTAFINGSAP AEVNSRGLTY ITISLNISII
460 470 480 490 500
FLFLAVHFNG WKLDRKLGIV CLLSYLGLAT LSVLYELGII GNNKIRGCGG
Length:500
Mass (Da):54,888
Last modified:July 5, 2004 - v1
Checksum:iD8E91A017C9651ED
GO
Isoform 2 (identifier: Q71RS6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     41-101: GNSTQCVISPSSEFPEGFFTRQERRDGGIIIYFLIIVYMFMAISIVCDEYFLPSLEIISES → A

Show »
Length:440
Mass (Da):48,016
Checksum:i33634D113F7A3745
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YLZ0H0YLZ0_HUMAN
Sodium/potassium/calcium exchanger ...
SLC24A5
122Annotation score:

Polymorphismi

Genetic variants in SLC24A5 define the skin/hair/eye pigmentation variation locus 4 (SHEP4) [MIMi: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.1 Publication
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.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024922111T → A Associated with SHEP4; greatly reduced exchange activity. 3 PublicationsCorresponds to variant dbSNP:rs1426654EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04759641 – 101GNSTQ…IISES → A in isoform 2. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF348468 mRNA Translation: AAQ15116.1
DQ665306 mRNA Translation: ABG66958.1
DQ665307 mRNA Translation: ABG66959.1
AC090526 Genomic DNA No translation available.
BC073944 mRNA Translation: AAH73944.1
BC113628 mRNA Translation: AAI13629.1
BC113630 mRNA Translation: AAI13631.1
BC143950 mRNA Translation: AAI43951.1
CCDSiCCDS10128.1 [Q71RS6-1]
RefSeqiNP_995322.1, NM_205850.2 [Q71RS6-1]
UniGeneiHs.710240

Genome annotation databases

EnsembliENST00000341459; ENSP00000341550; ENSG00000188467 [Q71RS6-1]
ENST00000449382; ENSP00000389966; ENSG00000188467 [Q71RS6-2]
GeneIDi283652
KEGGihsa:283652
UCSCiuc001zwe.4 human [Q71RS6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Protein Spotlight

Skin-deep - Issue 74 of September 2006

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF348468 mRNA Translation: AAQ15116.1
DQ665306 mRNA Translation: ABG66958.1
DQ665307 mRNA Translation: ABG66959.1
AC090526 Genomic DNA No translation available.
BC073944 mRNA Translation: AAH73944.1
BC113628 mRNA Translation: AAI13629.1
BC113630 mRNA Translation: AAI13631.1
BC143950 mRNA Translation: AAI43951.1
CCDSiCCDS10128.1 [Q71RS6-1]
RefSeqiNP_995322.1, NM_205850.2 [Q71RS6-1]
UniGeneiHs.710240

3D structure databases

ProteinModelPortaliQ71RS6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129632, 3 interactors
IntActiQ71RS6, 1 interactor
STRINGi9606.ENSP00000341550

Protein family/group databases

TCDBi2.A.19.4.6 the ca(2+):cation antiporter (caca) family

PTM databases

iPTMnetiQ71RS6
PhosphoSitePlusiQ71RS6

Polymorphism and mutation databases

BioMutaiSLC24A5
DMDMi74749781

Proteomic databases

PaxDbiQ71RS6
PeptideAtlasiQ71RS6
PRIDEiQ71RS6
ProteomicsDBi68623

Protocols and materials databases

DNASUi283652
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341459; ENSP00000341550; ENSG00000188467 [Q71RS6-1]
ENST00000449382; ENSP00000389966; ENSG00000188467 [Q71RS6-2]
GeneIDi283652
KEGGihsa:283652
UCSCiuc001zwe.4 human [Q71RS6-1]

Organism-specific databases

CTDi283652
DisGeNETi283652
EuPathDBiHostDB:ENSG00000188467.10
GeneCardsiSLC24A5
H-InvDBiHIX0012216
HGNCiHGNC:20611 SLC24A5
MalaCardsiSLC24A5
MIMi113750 phenotype
609802 gene
neXtProtiNX_Q71RS6
OpenTargetsiENSG00000188467
Orphaneti370097 Oculocutaneous albinism type 6
PharmGKBiPA134868972
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1307 Eukaryota
ENOG410Y9YY LUCA
GeneTreeiENSGT00760000119209
HOGENOMiHOG000231933
HOVERGENiHBG054881
InParanoidiQ71RS6
KOiK13753
OMAiGFFTKQE
OrthoDBiEOG091G0M5C
PhylomeDBiQ71RS6
TreeFamiTF318759

Enzyme and pathway databases

ReactomeiR-HSA-425561 Sodium/Calcium exchangers
R-HSA-5619036 Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)

Miscellaneous databases

ChiTaRSiSLC24A5 human
GeneWikiiSLC24A5
GenomeRNAii283652
PROiPR:Q71RS6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188467 Expressed in 38 organ(s), highest expression level in skin of abdomen
CleanExiHS_SLC24A5
ExpressionAtlasiQ71RS6 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR004481 K/Na/Ca-exchanger
IPR004837 NaCa_Exmemb
IPR030245 SLC24A5
PANTHERiPTHR10846 PTHR10846, 1 hit
PTHR10846:SF27 PTHR10846:SF27, 1 hit
PfamiView protein in Pfam
PF01699 Na_Ca_ex, 2 hits
TIGRFAMsiTIGR00367 TIGR00367, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNCKX5_HUMAN
AccessioniPrimary (citable) accession number: Q71RS6
Secondary accession number(s): A5X8Z8
, A5X8Z9, Q14CT4, Q6DKH3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: July 5, 2004
Last modified: November 7, 2018
This is version 125 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  6. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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