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Q71RS6

- NCKX5_HUMAN

UniProt

Q71RS6 - NCKX5_HUMAN

Protein

Sodium/potassium/calcium exchanger 5

Gene

SLC24A5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    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

    1. calcium, potassium:sodium antiporter activity Source: MGI
    2. symporter activity Source: UniProtKB-KW

    GO - Biological processi

    1. ion transmembrane transport Source: MGI
    2. ion transport Source: Reactome
    3. response to stimulus Source: UniProtKB-KW
    4. sodium ion transmembrane transport Source: GOC
    5. transmembrane transport Source: Reactome

    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

    ReactomeiREACT_19320. 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
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:20611. SLC24A5.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. melanosome Source: UniProtKB-SubCell
    3. plasma membrane Source: Reactome
    4. trans-Golgi network Source: MGI

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Albinism, oculocutaneous, 6 (OCA6) [MIM:113750]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Albinism

    Organism-specific databases

    MIMi113750. phenotype.
    Orphaneti370097. Oculocutaneous albinism type 6.
    PharmGKBiPA134868972.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2929Sequence AnalysisAdd
    BLAST
    Chaini30 – 500471Sodium/potassium/calcium exchanger 5PRO_0000045753Add
    BLAST

    Proteomic databases

    PaxDbiQ71RS6.
    PRIDEiQ71RS6.

    Expressioni

    Gene expression databases

    BgeeiQ71RS6.
    CleanExiHS_SLC24A5.
    GenevestigatoriQ71RS6.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000341550.

    Structurei

    3D structure databases

    ProteinModelPortaliQ71RS6.
    SMRiQ71RS6. Positions 363-411.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini30 – 6637ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini88 – 11124CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini133 – 1364ExtracellularSequence Analysis
    Topological domaini158 – 16912CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini191 – 1955ExtracellularSequence Analysis
    Topological domaini217 – 30286CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini324 – 33310ExtracellularSequence Analysis
    Topological domaini355 – 36814CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini390 – 39910ExtracellularSequence Analysis
    Topological domaini421 – 43717CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini459 – 46810ExtracellularSequence Analysis
    Topological domaini490 – 50011CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei67 – 8721Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei112 – 13221Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei137 – 15721Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei170 – 19021Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei196 – 21621Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei303 – 32321Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei334 – 35421Helical; Name=7Sequence AnalysisAdd
    BLAST
    Transmembranei369 – 38921Helical; Name=8Sequence AnalysisAdd
    BLAST
    Transmembranei400 – 42021Helical; Name=9Sequence AnalysisAdd
    BLAST
    Transmembranei438 – 45821Helical; Name=10Sequence AnalysisAdd
    BLAST
    Transmembranei469 – 48921Helical; Name=11Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0530.
    HOGENOMiHOG000231933.
    HOVERGENiHBG054881.
    InParanoidiQ71RS6.
    KOiK13753.
    OMAiCYILFAT.
    OrthoDBiEOG776SP8.
    PhylomeDBiQ71RS6.
    TreeFamiTF318759.

    Family and domain databases

    InterProiIPR004481. K/Na/Ca-exchanger.
    IPR004837. NaCa_Exmemb.
    [Graphical view]
    PANTHERiPTHR10846. PTHR10846. 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. Align

    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

    MQTKGGQTWA RRALLLGILW ATAHLPLSGT SLPQRLPRAT GNSTQCVISP    50
    SSEFPEGFFT RQERRDGGII IYFLIIVYMF MAISIVCDEY FLPSLEIISE 100
    SLGLSQDVAG TTFMAAGSSA PELVTAFLGV FITKGDIGIS TILGSAIYNL 150
    LGICAACGLL SNTVSTLSCW PLFRDCAAYT ISAAAVLGII YDNQVYWYEG 200
    ALLLLIYGLY VLVLCFDIKI NQYIIKKCSP CCACLAKAME RSEQQPLMGW 250
    EDEGQPFIRR QSRTDSGIFY EDSGYSQLSI SLHGLSQVSE DPPSVFNMPE 300
    ADLKRIFWVL SLPIITLLFL TTPDCRKKFW KNYFVITFFM SAIWISAFTY 350
    ILVWMVTITG ETLEIPDTVM GLTLLAAGTS IPDTIASVLV ARKGKGDMAM 400
    SNIVGSNVFD MLCLGIPWFI KTAFINGSAP AEVNSRGLTY ITISLNISII 450
    FLFLAVHFNG WKLDRKLGIV CLLSYLGLAT LSVLYELGII GNNKIRGCGG 500
    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.
    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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti111 – 1111T → A Associated with SHEP4; greatly reduced exchange activity. 2 Publications
    Corresponds to variant rs1426654 [ dbSNP | Ensembl ].
    VAR_024922

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei41 – 10161GNSTQ…IISES → A in isoform 2. 1 PublicationVSP_047596Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    XP_005254365.1. XM_005254308.2. [Q71RS6-1]
    UniGeneiHs.710240.

    Genome annotation databases

    EnsembliENST00000341459; ENSP00000341550; ENSG00000188467. [Q71RS6-1]
    ENST00000449382; ENSP00000389966; ENSG00000188467. [Q71RS6-2]
    GeneIDi283652.
    KEGGihsa:283652.
    UCSCiuc001zwe.3. human. [Q71RS6-1]

    Polymorphism databases

    DMDMi74749781.

    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS10128.1. [Q71RS6-1 ]
    RefSeqi NP_995322.1. NM_205850.2. [Q71RS6-1 ]
    XP_005254365.1. XM_005254308.2. [Q71RS6-1 ]
    UniGenei Hs.710240.

    3D structure databases

    ProteinModelPortali Q71RS6.
    SMRi Q71RS6. Positions 363-411.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000341550.

    Protein family/group databases

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

    Polymorphism databases

    DMDMi 74749781.

    Proteomic databases

    PaxDbi Q71RS6.
    PRIDEi Q71RS6.

    Protocols and materials databases

    DNASUi 283652.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000341459 ; ENSP00000341550 ; ENSG00000188467 . [Q71RS6-1 ]
    ENST00000449382 ; ENSP00000389966 ; ENSG00000188467 . [Q71RS6-2 ]
    GeneIDi 283652.
    KEGGi hsa:283652.
    UCSCi uc001zwe.3. human. [Q71RS6-1 ]

    Organism-specific databases

    CTDi 283652.
    GeneCardsi GC15P048413.
    H-InvDB HIX0012216.
    HGNCi HGNC:20611. SLC24A5.
    MIMi 113750. phenotype.
    609802. gene.
    neXtProti NX_Q71RS6.
    Orphaneti 370097. Oculocutaneous albinism type 6.
    PharmGKBi PA134868972.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0530.
    HOGENOMi HOG000231933.
    HOVERGENi HBG054881.
    InParanoidi Q71RS6.
    KOi K13753.
    OMAi CYILFAT.
    OrthoDBi EOG776SP8.
    PhylomeDBi Q71RS6.
    TreeFami TF318759.

    Enzyme and pathway databases

    Reactomei REACT_19320. Sodium/Calcium exchangers.

    Miscellaneous databases

    ChiTaRSi SLC24A5. human.
    GeneWikii SLC24A5.
    GenomeRNAii 283652.
    NextBioi 35462293.
    PROi Q71RS6.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q71RS6.
    CleanExi HS_SLC24A5.
    Genevestigatori Q71RS6.

    Family and domain databases

    InterProi IPR004481. K/Na/Ca-exchanger.
    IPR004837. NaCa_Exmemb.
    [Graphical view ]
    PANTHERi PTHR10846. PTHR10846. 1 hit.
    Pfami PF01699. Na_Ca_ex. 2 hits.
    [Graphical view ]
    TIGRFAMsi TIGR00367. TIGR00367. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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] (ISOFORM 1).
      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] (ISOFORM 1).
      Tissue: Retinal pigment epithelium.
    3. "Molecular cloning of a splice variant of SLC24A5 from human retinal pigment epithelium."
      Mangini N.J., Kennedy B.G., Canfield V.A., Cheng K.C.
      Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Retinal pigment epithelium.
    4. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 1).
      Tissue: Brain and Mammary gland.
    6. Cited for: FUNCTION, VARIANT ALA-111.
    7. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Melanoma.
    8. "SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis."
      Ginger R.S., Askew S.E., Ogborne R.M., Wilson S., Ferdinando D., Dadd T., Smith A.M., Kazi S., Szerencsei R.T., Winkfein R.J., Schnetkamp P.P., Green M.R.
      J. Biol. Chem. 283:5486-5495(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT ALA-111.
    9. "Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism."
      Wei A.H., Zang D.J., Zhang Z., Liu X.Z., He X., Yang L., Wang Y., Zhou Z.Y., Zhang M.R., Dai L.L., Yang X.M., Li W.
      J. Invest. Dermatol. 133:1834-1840(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN OCA6.
    10. Cited for: VARIANT ALA-111, ASSOCIATION WITH SHEP4.

    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: October 1, 2014
    This is version 96 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

    External Data

    Dasty 3