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Q71RS6

- NCKX5_HUMAN

UniProt

Q71RS6 - NCKX5_HUMAN

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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

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. negative regulation of melanin biosynthetic process Source: Ensembl
  4. response to stimulus Source: UniProtKB-KW
  5. sodium ion transmembrane transport Source: GOC
  6. transmembrane transport Source: Reactome
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

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini30 – 6637ExtracellularSequence AnalysisAdd
BLAST
Transmembranei67 – 8721Helical; Name=1Sequence AnalysisAdd
BLAST
Topological domaini88 – 11124CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei112 – 13221Helical; Name=2Sequence AnalysisAdd
BLAST
Topological domaini133 – 1364ExtracellularSequence Analysis
Transmembranei137 – 15721Helical; Name=3Sequence AnalysisAdd
BLAST
Topological domaini158 – 16912CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei170 – 19021Helical; Name=4Sequence AnalysisAdd
BLAST
Topological domaini191 – 1955ExtracellularSequence Analysis
Transmembranei196 – 21621Helical; Name=5Sequence AnalysisAdd
BLAST
Topological domaini217 – 30286CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei303 – 32321Helical; Name=6Sequence AnalysisAdd
BLAST
Topological domaini324 – 33310ExtracellularSequence Analysis
Transmembranei334 – 35421Helical; Name=7Sequence AnalysisAdd
BLAST
Topological domaini355 – 36814CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei369 – 38921Helical; Name=8Sequence AnalysisAdd
BLAST
Topological domaini390 – 39910ExtracellularSequence Analysis
Transmembranei400 – 42021Helical; Name=9Sequence AnalysisAdd
BLAST
Topological domaini421 – 43717CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei438 – 45821Helical; Name=10Sequence AnalysisAdd
BLAST
Topological domaini459 – 46810ExtracellularSequence Analysis
Transmembranei469 – 48921Helical; Name=11Sequence AnalysisAdd
BLAST
Topological domaini490 – 50011CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: Reactome
  3. trans-Golgi network Source: MGI
Complete GO annotation...

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.
ExpressionAtlasiQ71RS6. baseline.
GenevestigatoriQ71RS6.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000341550.

Structurei

3D structure databases

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

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0530.
GeneTreeiENSGT00760000119209.
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

        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.
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:
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]
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:
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 .
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.
GeneTreei ENSGT00760000119209.
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.
ExpressionAtlasi Q71RS6. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 97 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