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Protein

Sodium/potassium/calcium exchanger 1

Gene

SLC24A1

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

Functioni

Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca2+ and 1 K+ in exchange for 4 Na+.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processAntiport, Calcium transport, Ion transport, Sensory transduction, Symport, Transport, Vision
LigandCalcium

Enzyme and pathway databases

ReactomeiR-HSA-2485179 Activation of the phototransduction cascade
R-HSA-425561 Sodium/Calcium exchangers
R-HSA-5619077 Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)

Protein family/group databases

TCDBi2.A.19.4.9 the ca(2+):cation antiporter (caca) family

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium/potassium/calcium exchanger 1
Alternative name(s):
Na(+)/K(+)/Ca(2+)-exchange protein 1
Retinal rod Na-Ca+K exchanger
Solute carrier family 24 member 1
Gene namesi
Name:SLC24A1
Synonyms:KIAA0702, NCKX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000074621.13
HGNCiHGNC:10975 SLC24A1
MIMi603617 gene
neXtProtiNX_O60721

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 domaini1 – 452ExtracellularSequence analysisAdd BLAST452
Transmembranei453 – 473HelicalSequence analysisAdd BLAST21
Topological domaini474 – 497CytoplasmicSequence analysisAdd BLAST24
Transmembranei498 – 518HelicalSequence analysisAdd BLAST21
Topological domaini519 – 522ExtracellularSequence analysis4
Transmembranei523 – 543HelicalSequence analysisAdd BLAST21
Topological domaini544 – 563CytoplasmicSequence analysisAdd BLAST20
Transmembranei564 – 584HelicalSequence analysisAdd BLAST21
Topological domaini585ExtracellularSequence analysis1
Transmembranei586 – 606HelicalSequence analysisAdd BLAST21
Topological domaini607 – 907CytoplasmicSequence analysisAdd BLAST301
Transmembranei908 – 928HelicalSequence analysisAdd BLAST21
Topological domaini929 – 935ExtracellularSequence analysis7
Transmembranei936 – 956HelicalSequence analysisAdd BLAST21
Topological domaini957 – 971CytoplasmicSequence analysisAdd BLAST15
Transmembranei972 – 992HelicalSequence analysisAdd BLAST21
Topological domaini993 – 1010ExtracellularSequence analysisAdd BLAST18
Transmembranei1011 – 1031HelicalSequence analysisAdd BLAST21
Topological domaini1032 – 1039CytoplasmicSequence analysis8
Transmembranei1040 – 1060HelicalSequence analysisAdd BLAST21
Topological domaini1061 – 1068ExtracellularSequence analysis8
Transmembranei1069 – 1089HelicalSequence analysisAdd BLAST21
Topological domaini1090 – 1099CytoplasmicSequence analysis10

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Night blindness, congenital stationary, 1D (CSNB1D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision. CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus.
See also OMIM:613830

Keywords - Diseasei

Congenital stationary night blindness

Organism-specific databases

DisGeNETi9187
MalaCardsiSLC24A1
MIMi613830 phenotype
OpenTargetsiENSG00000074621
Orphaneti215 Congenital stationary night blindness
PharmGKBiPA35851

Polymorphism and mutation databases

BioMutaiSLC24A1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002233031 – 1099Sodium/potassium/calcium exchanger 1Add BLAST1099
Signal peptidei1 – ?Not cleaved

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi290N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei658PhosphoserineSequence analysis1
Modified residuei724PhosphothreonineCombined sources1

Post-translational modificationi

The uncleaved signal sequence is required for efficient membrane targeting and proper membrane integration.

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiO60721
PaxDbiO60721
PeptideAtlasiO60721
PRIDEiO60721
ProteomicsDBi49569
49570 [O60721-2]

PTM databases

iPTMnetiO60721
PhosphoSitePlusiO60721

Expressioni

Tissue specificityi

Expressed in the retina, particularly in the inner segment, outer and inner nuclear layers, and ganglion cell layer.1 Publication

Gene expression databases

BgeeiENSG00000074621 Expressed in 159 organ(s), highest expression level in amniotic fluid
CleanExiHS_SLC24A1
ExpressionAtlasiO60721 baseline and differential
GenevisibleiO60721 HS

Organism-specific databases

HPAiHPA039370

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NCK1P163333EBI-1753504,EBI-389883

Protein-protein interaction databases

BioGridi114624, 2 interactors
IntActiO60721, 5 interactors
STRINGi9606.ENSP00000261892

Structurei

3D structure databases

ProteinModelPortaliO60721
SMRiO60721
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati494 – 534Alpha-1Add BLAST41
Repeati979 – 1010Alpha-2Add BLAST32

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi860 – 890Poly-GluAdd BLAST31

Sequence similaritiesi

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1307 Eukaryota
ENOG410Y9YY LUCA
GeneTreeiENSGT00760000119209
HOGENOMiHOG000231933
HOVERGENiHBG104097
InParanoidiO60721
KOiK13749
OMAiLAYAFYV
OrthoDBiEOG091G0M5C
PhylomeDBiO60721
TreeFamiTF318759

Family and domain databases

InterProiView protein in InterPro
IPR004481 K/Na/Ca-exchanger
IPR004837 NaCa_Exmemb
IPR004817 SLC24A1
PANTHERiPTHR10846 PTHR10846, 1 hit
PfamiView protein in Pfam
PF01699 Na_Ca_ex, 2 hits
TIGRFAMsiTIGR00927 2A1904, 1 hit
TIGR00367 TIGR00367, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: O60721-1) [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
MGKLIRMGPQ ERWLLRTKRL HWSRLLFLLG MLIIGSTYQH LRRPRGLSSL
60 70 80 90 100
WAAVSSHQPI KLASRDLSSE EMMMMSSSPS KPSSEMGGKM LVPQASVGSD
110 120 130 140 150
EATLSMTVEN IPSMPKRTAK MIPTTTKNNY SPTAAGTERR KEDTPTSSRT
160 170 180 190 200
LTYYTSTSSR QIVKKYTPTP RGEMKSYSPT QVREKVKYTP SPRGRRVGTY
210 220 230 240 250
VPSTFMTMET SHAITPRTTV KDSDITATYK ILETNSLKRI MEETTPTTLK
260 270 280 290 300
GMFDSTPTFL THEVEANVLT SPRSVMEKNN LFPPRRVESN SSAHPWGLVG
310 320 330 340 350
KSNPKTPQGT VLLHTPATSE GQVTISTMTG SSPAETKAFT AAWSLRNPSP
360 370 380 390 400
RTSVSAIKTA PAIVWRLAKK PSTAPSTSTT PTVRAKLTMQ VHHCVVVKPT
410 420 430 440 450
PAMLTTPSPS LTTALLPEEL SPSPSVLPPS LPDLHPKGEY PPDLFSVEER
460 470 480 490 500
RQGWVVLHVF GMMYVFVALA IVCDEYFVPA LGVITDKLQI SEDVAGATFM
510 520 530 540 550
AAGGSAPELF TSLIGVFISH SNVGIGTIVG SAVFNILFVI GTCSLFSREI
560 570 580 590 600
LNLTWWPLFR DVSFYILDLI MLILFFLDSL IAWWESLLLL LAYAFYVFTM
610 620 630 640 650
KWNKHIEVWV KEQLSRRPVA KVMALEDLSK PGDGAIAVDE LQDNKKLKLP
660 670 680 690 700
SLLTRGSSST SLHNSTIRST IYQLMLHSLD PLREVRLAKE KEEESLNQGA
710 720 730 740 750
RAQPQAKAES KPEEEEPAKL PAVTVTPAPV PDIKGDQKEN PGGQEDVAEA
760 770 780 790 800
ESTGEMPGEE GETAGEGETE EKSGGETQPE GEGETETQGK GEECEDENEA
810 820 830 840 850
EGKGDNEGED EGEIHAEDGE MKGNEGETES QELSAENHGE AKNDEKGVED
860 870 880 890 900
GGGSDGGDSE EEEEEEEEQE EEEEEEEQEE EEEEEEEEEE KGNEEPLSLD
910 920 930 940 950
WPETRQKQAI YLFLLPIVFP LWLTVPDVRR QESRKFFVFT FLGSIMWIAM
960 970 980 990 1000
FSYLMVWWAH QVGETIGISE EIMGLTILAA GTSIPDLITS VIVARKGLGD
1010 1020 1030 1040 1050
MAVSSSVGSN IFDITVGLPV PWLLFSLING LQPVPVSSNG LFCAIVLLFL
1060 1070 1080 1090
MLLFVISSIA SCKWRMNKIL GFTMFLLYFV FLIISVMLED RIISCPVSV
Length:1,099
Mass (Da):121,374
Last modified:August 1, 1998 - v1
Checksum:i3911856BB088B5FD
GO
Isoform 2 (identifier: O60721-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     631-648: Missing.

Note: No experimental confirmation available.
Show »
Length:1,081
Mass (Da):119,481
Checksum:iA72589F54E4C05B3
GO
Isoform 3 (identifier: O60721-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     932-961: Missing.

Note: No experimental confirmation available.
Show »
Length:1,069
Mass (Da):117,632
Checksum:iBC2036012DF4E930
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H127F5H127_HUMAN
Sodium/potassium/calcium exchanger ...
SLC24A1
1,012Annotation score:
F5H483F5H483_HUMAN
Sodium/potassium/calcium exchanger ...
SLC24A1
985Annotation score:
H0YH06H0YH06_HUMAN
Sodium/potassium/calcium exchanger ...
SLC24A1
56Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti516V → I in AAB97832 (PubMed:9478004).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05022137T → S. Corresponds to variant dbSNP:rs3743171EnsemblClinVar.1
Natural variantiVAR_050222311V → L. Corresponds to variant dbSNP:rs34363823EnsemblClinVar.1
Natural variantiVAR_050223313L → V. Corresponds to variant dbSNP:rs35571449EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006160631 – 648Missing in isoform 2. 2 PublicationsAdd BLAST18
Alternative sequenceiVSP_054491932 – 961Missing in isoform 3. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF062921 mRNA Translation: AAC16732.1
AF062922 mRNA Translation: AAC77912.1
AF026132 mRNA Translation: AAB97832.1
AC011939 Genomic DNA No translation available.
AC027220 Genomic DNA No translation available.
BC117263 mRNA Translation: AAI17264.1
BC143375 mRNA Translation: AAI43376.1
AB014602 mRNA Translation: BAA31677.2 Sequence problems.
CCDSiCCDS45284.1 [O60721-1]
CCDS73742.1 [O60721-3]
CCDS73743.1 [O60721-2]
RefSeqiNP_001287960.1, NM_001301031.1 [O60721-3]
NP_001287961.1, NM_001301032.1 [O60721-2]
NP_001287962.1, NM_001301033.1
NP_004718.1, NM_004727.2 [O60721-1]
XP_005254835.1, XM_005254778.3 [O60721-1]
XP_011520521.1, XM_011522219.1 [O60721-1]
XP_011520522.1, XM_011522220.2 [O60721-2]
XP_011520523.1, XM_011522221.2 [O60721-3]
UniGeneiHs.173092
Hs.617821

Genome annotation databases

EnsembliENST00000261892; ENSP00000261892; ENSG00000074621 [O60721-1]
ENST00000339868; ENSP00000341837; ENSG00000074621 [O60721-3]
ENST00000399033; ENSP00000381991; ENSG00000074621 [O60721-3]
ENST00000546330; ENSP00000439190; ENSG00000074621 [O60721-2]
GeneIDi9187
KEGGihsa:9187
UCSCiuc010ujf.2 human [O60721-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNCKX1_HUMAN
AccessioniPrimary (citable) accession number: O60721
Secondary accession number(s): O43485, O75184, Q17RM9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 13, 2001
Last sequence update: August 1, 1998
Last modified: September 12, 2018
This is version 155 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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