Sodium/potassium/calcium exchanger 5 precursor

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Q71RS6 (NCKX5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 3, 2013. Version 83. History...

Clusters with 100%, 90%, 50% identity |

Documents (6) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
Sodium/potassium/calcium exchanger 5

Alternative name(s):
Na(+)/K(+)/Ca(2+)-exchange protein 5
Solute carrier family 24 member 5

Gene names

Name:	SLC24A5
Synonyms:	JSX, NCKX5

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	500 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Probably transports 1 Ca²⁺ and 1 K⁺ in exchange for 4 Na⁺. Ref.4
Subcellular location	Membrane; Multi-pass membrane protein By similarity. Melanosome. Note: Enriched in late-stage melanosomes. Ref.5
Polymorphism	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. 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.
Sequence similarities	Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily.

Ontologies

Keywords
Biological process	Antiport Calcium transport Ion transport Potassium transport Sensory transduction Sodium transport Symport Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Ligand	Calcium Potassium Sodium
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	calcium ion transport Inferred from electronic annotation. Source: UniProtKB-KW ion transport Traceable author statement. Source: Reactome potassium ion transport Inferred from electronic annotation. Source: UniProtKB-KW response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW sodium ion transport Inferred from electronic annotation. Source: UniProtKB-KW transmembrane transport Traceable author statement. Source: Reactome
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW melanosome Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membrane Traceable author statement. Source: Reactome
Molecular_function	antiporter activity Inferred from electronic annotation. Source: UniProtKB-KW symporter activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 29

Potential

Chain

30 – 500

471

Sodium/potassium/calcium exchanger 5

PRO_0000045753

Regions

Topological domain

30 – 66

Extracellular Potential

Transmembrane

67 – 87

Helical; Name=1; Potential

Topological domain

88 – 111

Cytoplasmic Potential

Transmembrane

112 – 132

Helical; Name=2; Potential

Topological domain

133 – 136

Extracellular Potential

Transmembrane

137 – 157

Helical; Name=3; Potential

Topological domain

158 – 169

Cytoplasmic Potential

Transmembrane

170 – 190

Helical; Name=4; Potential

Topological domain

191 – 195

Extracellular Potential

Transmembrane

196 – 216

Helical; Name=5; Potential

Topological domain

217 – 302

Cytoplasmic Potential

Transmembrane

303 – 323

Helical; Name=6; Potential

Topological domain

324 – 333

Extracellular Potential

Transmembrane

334 – 354

Helical; Name=7; Potential

Topological domain

355 – 368

Cytoplasmic Potential

Transmembrane

369 – 389

Helical; Name=8; Potential

Topological domain

390 – 399

Extracellular Potential

Transmembrane

400 – 420

Helical; Name=9; Potential

Topological domain

421 – 437

Cytoplasmic Potential

Transmembrane

438 – 458

Helical; Name=10; Potential

Topological domain

459 – 468

Extracellular Potential

Transmembrane

469 – 489

Helical; Name=11; Potential

Topological domain

490 – 500

Cytoplasmic Potential

Natural variations

Natural variant

111

T → A Associated with SHEP4. Ref.4 Ref.6
Corresponds to variant rs1426654 [ dbSNP | Ensembl ].

VAR_024922

Sequences

Sequence

Length

Mass (Da)

Tools

Q71RS6 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: D8E91A017C9651ED
Show »

FASTA

500

54,888

        10         20         30         40         50         60 
MQTKGGQTWA RRALLLGILW ATAHLPLSGT SLPQRLPRAT GNSTQCVISP SSEFPEGFFT 

        70         80         90        100        110        120 
RQERRDGGII IYFLIIVYMF MAISIVCDEY FLPSLEIISE SLGLSQDVAG TTFMAAGSSA 

       130        140        150        160        170        180 
PELVTAFLGV FITKGDIGIS TILGSAIYNL LGICAACGLL SNTVSTLSCW PLFRDCAAYT 

       190        200        210        220        230        240 
ISAAAVLGII YDNQVYWYEG ALLLLIYGLY VLVLCFDIKI NQYIIKKCSP CCACLAKAME 

       250        260        270        280        290        300 
RSEQQPLMGW EDEGQPFIRR QSRTDSGIFY EDSGYSQLSI SLHGLSQVSE DPPSVFNMPE 

       310        320        330        340        350        360 
ADLKRIFWVL SLPIITLLFL TTPDCRKKFW KNYFVITFFM SAIWISAFTY ILVWMVTITG 

       370        380        390        400        410        420 
ETLEIPDTVM GLTLLAAGTS IPDTIASVLV ARKGKGDMAM SNIVGSNVFD MLCLGIPWFI 

       430        440        450        460        470        480 
KTAFINGSAP AEVNSRGLTY ITISLNISII FLFLAVHFNG WKLDRKLGIV CLLSYLGLAT 

       490        500 
LSVLYELGII GNNKIRGCGG

« Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and characterization of a novel, renal divalent cation transporter (JSX)." Satoh J., Romero M.F. Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Kidney.
[2]	"Cloning and characterization of a K-dependent, Na-Ca2+ exchanger, member 5 (slc24A5) expressed in human retinal pigment epithelium." Mangini N.J., Kennedy B.G., Canfield V.A., Cheng K.C. Submitted (MAY-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retinal pigment epithelium.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain and Mammary gland.
[4]	"SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans." Lamason R.L., Mohideen M.-A.P.K., Mest J.R., Wong A.C., Norton H.L., Aros M.C., Jurynec M.J., Mao X., Humphreville V.R., Humbert J.E., Sinha S., Moore J.L., Jagadeeswaran P., Zhao W., Ning G., Makalowska I., McKeigue P.M., O'Donnell D. Cheng K.C. Science 310:1782-1786(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, VARIANT ALA-111.
[5]	"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes." Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F. J. Proteome Res. 5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Melanoma.
[6]	"A genomewide association study of skin pigmentation in a South Asian population." Stokowski R.P., Pant P.V.K., Dadd T., Fereday A., Hinds D.A., Jarman C., Filsell W., Ginger R.S., Green M.R., van der Ouderaa F.J., Cox D.R. Am. J. Hum. Genet. 81:1119-1132(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ALA-111, ASSOCIATION WITH SHEP4.
+	Additional computationally mapped references.

Web resources

Protein Spotlight

Skin-deep - Issue 74 of September 2006

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF348468 mRNA. Translation: AAQ15116.1. DQ665306 mRNA. Translation: ABG66958.1. BC073944 mRNA. Translation: AAH73944.1. BC113628 mRNA. Translation: AAI13629.1. BC113630 mRNA. Translation: AAI13631.1. BC143950 mRNA. Translation: AAI43951.1.
IPI	IPI00409687.
RefSeq	NP_995322.1. NM_205850.2.
UniGene	Hs.710240.
3D structure databases
ProteinModelPortal	Q71RS6.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000341550.
Protein family/group databases
TCDB	2.A.19.4.6. Ca2+:cation antiporter (CaCA) family.
Polymorphism databases
DMDM	74749781.
Proteomic databases
PaxDb	Q71RS6.
PRIDE	Q71RS6.
Protocols and materials databases
DNASU	283652.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000341459; ENSP00000341550; ENSG00000188467.
GeneID	283652.
KEGG	hsa:283652.
UCSC	uc001zwe.3. human.
Organism-specific databases
CTD	283652.
GeneCards	GC15P048413.
H-InvDB	HIX0012216.
HGNC	HGNC:20611. SLC24A5.
MIM	113750. phenotype. 609802. gene.
neXtProt	NX_Q71RS6.
PharmGKB	PA134868972.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0530.
HOGENOM	HOG000231933.
HOVERGEN	HBG054881.
InParanoid	Q71RS6.
KO	K13753.
OMA	AMERSEQ.
OrthoDB	EOG4H72BG.
PhylomeDB	Q71RS6.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q71RS6.
Bgee	Q71RS6.
CleanEx	HS_SLC24A5.
Genevestigator	Q71RS6.
Family and domain databases
InterPro	IPR004481. K/Na/Ca-exchanger. IPR004837. NaCa_Exmemb. [Graphical view]
PANTHER	PTHR10846. PTHR10846. 1 hit.
Pfam	PF01699. Na_Ca_ex. 2 hits. [Graphical view]
TIGRFAMs	TIGR00367. TIGR00367. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	SLC24A5. human.
GenomeRNAi	283652.
NextBio	94137.
SOURCE	Search...

Entry information

Entry name

NCKX5_HUMAN

Accession

Primary (citable) accession number: Q71RS6
Secondary accession number(s): A5X8Z8, Q14CT4, Q6DKH3

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 10, 2006
Last sequence update:	July 5, 2004
Last modified:	April 3, 2013
This is version 83 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.

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Index of human polymorphisms and disease mutations

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Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Natural variations

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents