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Protein

Sodium/potassium/calcium exchanger 5

Gene

SLC24A5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Antiport, Calcium transport, Ion transport, Potassium transport, Sensory transduction, Sodium transport, Symport, Transport

Keywords - Ligandi

Calcium, Potassium, Sodium

Enzyme and pathway databases

BioCyciZFISH:G66-32021-MONOMER.
ReactomeiR-HSA-425561. Sodium/Calcium exchangers.

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

HGNCiHGNC:20611. SLC24A5.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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.

PTM databases

iPTMnetiQ71RS6.
PhosphoSitePlusiQ71RS6.

Expressioni

Gene expression databases

BgeeiENSG00000188467.
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.
OMAiCSPCCAC.
OrthoDBiEOG091G0M5C.
PhylomeDBiQ71RS6.
TreeFamiTF318759.

Family and domain databases

InterProiIPR004481. K/Na/Ca-exchanger.
IPR004837. NaCa_Exmemb.
IPR030245. SLC24A5.
[Graphical view]
PANTHERiPTHR10846. PTHR10846. 1 hit.
PTHR10846:SF27. PTHR10846:SF27. 1 hit.
PfamiPF01699. Na_Ca_ex. 2 hits.
[Graphical view]
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

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

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 rs1426654dbSNPEnsembl.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.

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.
GeneCardsiSLC24A5.
H-InvDBHIX0012216.
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.
OMAiCSPCCAC.
OrthoDBiEOG091G0M5C.
PhylomeDBiQ71RS6.
TreeFamiTF318759.

Enzyme and pathway databases

BioCyciZFISH:G66-32021-MONOMER.
ReactomeiR-HSA-425561. Sodium/Calcium exchangers.

Miscellaneous databases

ChiTaRSiSLC24A5. human.
GeneWikiiSLC24A5.
GenomeRNAii283652.
PROiQ71RS6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188467.
CleanExiHS_SLC24A5.
ExpressionAtlasiQ71RS6. baseline and differential.

Family and domain databases

InterProiIPR004481. K/Na/Ca-exchanger.
IPR004837. NaCa_Exmemb.
IPR030245. SLC24A5.
[Graphical view]
PANTHERiPTHR10846. PTHR10846. 1 hit.
PTHR10846:SF27. PTHR10846:SF27. 1 hit.
PfamiPF01699. Na_Ca_ex. 2 hits.
[Graphical view]
TIGRFAMsiTIGR00367. TIGR00367. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiNCKX5_HUMAN
AccessioniPrimary (citable) accession number: Q71RS6
Secondary accession number(s): A5X8Z8
, A5X8Z9, Q14CT4, Q6DKH3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: July 5, 2004
Last modified: November 30, 2016
This is version 116 of the entry and version 1 of the sequence. [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. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  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. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.