UniProtKB - O60721 (NCKX1_HUMAN)
Sodium/potassium/calcium exchanger 1
SLC24A1
Functioni
Calcium, potassium:sodium antiporter that transports 1 Ca2+ and 1 K+ in exchange for 4 Na+ (PubMed:26631410).
Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness (PubMed:20850105).
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 (PubMed:20850105).
2 PublicationsCatalytic activityi
GO - Molecular functioni
- calcium, potassium:sodium antiporter activity Source: ARUK-UCL
- calcium channel activity Source: GO_Central
- symporter activity Source: UniProtKB-KW
GO - Biological processi
- calcium ion import across plasma membrane Source: ARUK-UCL
- calcium ion transmembrane transport Source: ARUK-UCL
- calcium ion transport Source: UniProtKB
- cellular calcium ion homeostasis Source: ARUK-UCL
- ion transport Source: Reactome
- long-term synaptic depression Source: GO_Central
- long-term synaptic potentiation Source: GO_Central
- potassium ion transmembrane transport Source: ARUK-UCL
- response to light intensity Source: UniProtKB
- sodium ion transmembrane transport Source: ARUK-UCL
- visual perception Source: UniProtKB
Keywordsi
Biological process | Antiport, Calcium transport, Ion transport, Sensory transduction, Symport, Transport, Vision |
Ligand | Calcium |
Enzyme and pathway databases
PathwayCommonsi | O60721 |
Reactomei | R-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) |
SignaLinki | O60721 |
SIGNORi | O60721 |
Protein family/group databases
TCDBi | 2.A.19.4.9, the ca(2+):cation antiporter (caca) family |
Names & Taxonomyi
Protein namesi | Recommended name: Sodium/potassium/calcium exchanger 1Alternative name(s): Na(+)/K(+)/Ca(2+)-exchange protein 11 Publication Retinal rod Na-Ca+K exchanger1 Publication Solute carrier family 24 member 1 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10975, SLC24A1 |
MIMi | 603617, gene |
neXtProti | NX_O60721 |
VEuPathDBi | HostDB:ENSG00000074621 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: ARUK-UCL
Other locations
- membrane Source: ProtInc
- neuronal cell body Source: ARUK-UCL
- outer membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 452 | ExtracellularSequence analysisAdd BLAST | 452 | |
Transmembranei | 453 – 473 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 474 – 497 | CytoplasmicSequence analysisAdd BLAST | 24 | |
Transmembranei | 498 – 518 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 519 – 522 | ExtracellularSequence analysis | 4 | |
Transmembranei | 523 – 543 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 544 – 563 | CytoplasmicSequence analysisAdd BLAST | 20 | |
Transmembranei | 564 – 584 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 585 | ExtracellularSequence analysis | 1 | |
Transmembranei | 586 – 606 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 607 – 907 | CytoplasmicSequence analysisAdd BLAST | 301 | |
Transmembranei | 908 – 928 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 929 – 935 | ExtracellularSequence analysis | 7 | |
Transmembranei | 936 – 956 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 957 – 971 | CytoplasmicSequence analysisAdd BLAST | 15 | |
Transmembranei | 972 – 992 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 993 – 1010 | ExtracellularSequence analysisAdd BLAST | 18 | |
Transmembranei | 1011 – 1031 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1032 – 1039 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 1040 – 1060 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1061 – 1068 | ExtracellularSequence analysis | 8 | |
Transmembranei | 1069 – 1089 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1090 – 1099 | CytoplasmicSequence analysis | 10 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Night blindness, congenital stationary, 1D (CSNB1D)1 Publication
Keywords - Diseasei
Congenital stationary night blindnessOrganism-specific databases
DisGeNETi | 9187 |
MalaCardsi | SLC24A1 |
MIMi | 613830, phenotype |
OpenTargetsi | ENSG00000074621 |
Orphaneti | 215, Congenital stationary night blindness |
PharmGKBi | PA35851 |
Miscellaneous databases
Pharosi | O60721, Tbio |
Genetic variation databases
BioMutai | SLC24A1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000223303 | 1 – 1099 | Sodium/potassium/calcium exchanger 1Add BLAST | 1099 | |
Signal peptidei | 1 – ? | Not cleaved1 Publication |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 290 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 658 | PhosphoserineSequence analysis | 1 | |
Modified residuei | 724 | PhosphothreonineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
MassIVEi | O60721 |
MaxQBi | O60721 |
PaxDbi | O60721 |
PeptideAtlasi | O60721 |
PRIDEi | O60721 |
ProteomicsDBi | 49569 [O60721-1] 49570 [O60721-2] 61158 |
PTM databases
GlyGeni | O60721, 1 site |
iPTMneti | O60721 |
PhosphoSitePlusi | O60721 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000074621, Expressed in amniotic fluid and 171 other tissues |
ExpressionAtlasi | O60721, baseline and differential |
Genevisiblei | O60721, HS |
Organism-specific databases
HPAi | ENSG00000074621, Tissue enriched (retina) |
Interactioni
Binary interactionsi
O60721
With | #Exp. | IntAct |
---|---|---|
NCK1 [P16333] | 3 | EBI-1753504,EBI-389883 |
Protein-protein interaction databases
BioGRIDi | 114624, 3 interactors |
IntActi | O60721, 5 interactors |
STRINGi | 9606.ENSP00000261892 |
Miscellaneous databases
RNActi | O60721, protein |
Structurei
3D structure databases
AlphaFoldDBi | O60721 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 494 – 534 | Alpha-1Add BLAST | 41 | |
Repeati | 979 – 1010 | Alpha-2Add BLAST | 32 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 123 – 150 | DisorderedSequence analysisAdd BLAST | 28 | |
Regioni | 169 – 199 | DisorderedSequence analysisAdd BLAST | 31 | |
Regioni | 284 – 304 | DisorderedSequence analysisAdd BLAST | 21 | |
Regioni | 690 – 901 | DisorderedSequence analysisAdd BLAST | 212 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 752 – 766 | Acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 767 – 788 | Basic and acidic residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 789 – 814 | Acidic residuesSequence analysisAdd BLAST | 26 | |
Compositional biasi | 815 – 853 | Basic and acidic residuesSequence analysisAdd BLAST | 39 | |
Compositional biasi | 854 – 894 | Acidic residuesSequence analysisAdd BLAST | 41 |
Sequence similaritiesi
Keywords - Domaini
Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1307, Eukaryota |
GeneTreei | ENSGT01030000234532 |
InParanoidi | O60721 |
OMAi | WPESRQK |
OrthoDBi | 1168500at2759 |
PhylomeDBi | O60721 |
TreeFami | TF318759 |
Family and domain databases
Gene3Di | 1.20.1420.30, 2 hits |
InterProi | View protein in InterPro IPR004481, K/Na/Ca-exchanger IPR004837, NaCa_Exmemb IPR044880, NCX_ion-bd_dom_sf IPR004817, SLC24A1 |
PANTHERi | PTHR10846, PTHR10846, 2 hits |
Pfami | View protein in Pfam PF01699, Na_Ca_ex, 2 hits |
TIGRFAMsi | TIGR00927, 2A1904, 1 hit TIGR00367, TIGR00367, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H483 | F5H483_HUMAN | Sodium/potassium/calcium exchanger ... | SLC24A1 | 985 | Annotation score: | ||
F5H127 | F5H127_HUMAN | Sodium/potassium/calcium exchanger ... | SLC24A1 | 1,012 | Annotation score: | ||
H0YH06 | H0YH06_HUMAN | Sodium/potassium/calcium exchanger ... | SLC24A1 | 56 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 516 | V → I in AAB97832 (PubMed:9478004).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_050221 | 37 | T → S. Corresponds to variant dbSNP:rs3743171EnsemblClinVar. | 1 | |
Natural variantiVAR_050222 | 311 | V → L. Corresponds to variant dbSNP:rs34363823EnsemblClinVar. | 1 | |
Natural variantiVAR_050223 | 313 | L → V. Corresponds to variant dbSNP:rs35571449EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_006160 | 631 – 648 | Missing in isoform 2. 2 PublicationsAdd BLAST | 18 | |
Alternative sequenceiVSP_054491 | 932 – 961 | Missing in isoform 3. 1 PublicationAdd BLAST | 30 |
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. |
CCDSi | CCDS45284.1 [O60721-1] CCDS73742.1 [O60721-3] CCDS73743.1 [O60721-2] |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000261892.11; ENSP00000261892.6; ENSG00000074621.14 ENST00000339868.10; ENSP00000341837.7; ENSG00000074621.14 [O60721-3] ENST00000399033.8; ENSP00000381991.4; ENSG00000074621.14 [O60721-3] ENST00000546330.1; ENSP00000439190.1; ENSG00000074621.14 [O60721-2] |
GeneIDi | 9187 |
KEGGi | hsa:9187 |
MANE-Selecti | ENST00000261892.11; ENSP00000261892.6; NM_004727.3; NP_004718.1 |
UCSCi | uc010ujf.2, human [O60721-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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. |
CCDSi | CCDS45284.1 [O60721-1] CCDS73742.1 [O60721-3] CCDS73743.1 [O60721-2] |
RefSeqi | NP_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] |
3D structure databases
AlphaFoldDBi | O60721 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 114624, 3 interactors |
IntActi | O60721, 5 interactors |
STRINGi | 9606.ENSP00000261892 |
Protein family/group databases
TCDBi | 2.A.19.4.9, the ca(2+):cation antiporter (caca) family |
PTM databases
GlyGeni | O60721, 1 site |
iPTMneti | O60721 |
PhosphoSitePlusi | O60721 |
Genetic variation databases
BioMutai | SLC24A1 |
Proteomic databases
MassIVEi | O60721 |
MaxQBi | O60721 |
PaxDbi | O60721 |
PeptideAtlasi | O60721 |
PRIDEi | O60721 |
ProteomicsDBi | 49569 [O60721-1] 49570 [O60721-2] 61158 |
Protocols and materials databases
Antibodypediai | 26029, 133 antibodies from 23 providers |
DNASUi | 9187 |
Genome annotation databases
Ensembli | ENST00000261892.11; ENSP00000261892.6; ENSG00000074621.14 ENST00000339868.10; ENSP00000341837.7; ENSG00000074621.14 [O60721-3] ENST00000399033.8; ENSP00000381991.4; ENSG00000074621.14 [O60721-3] ENST00000546330.1; ENSP00000439190.1; ENSG00000074621.14 [O60721-2] |
GeneIDi | 9187 |
KEGGi | hsa:9187 |
MANE-Selecti | ENST00000261892.11; ENSP00000261892.6; NM_004727.3; NP_004718.1 |
UCSCi | uc010ujf.2, human [O60721-1] |
Organism-specific databases
CTDi | 9187 |
DisGeNETi | 9187 |
GeneCardsi | SLC24A1 |
HGNCi | HGNC:10975, SLC24A1 |
HPAi | ENSG00000074621, Tissue enriched (retina) |
MalaCardsi | SLC24A1 |
MIMi | 603617, gene 613830, phenotype |
neXtProti | NX_O60721 |
OpenTargetsi | ENSG00000074621 |
Orphaneti | 215, Congenital stationary night blindness |
PharmGKBi | PA35851 |
VEuPathDBi | HostDB:ENSG00000074621 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1307, Eukaryota |
GeneTreei | ENSGT01030000234532 |
InParanoidi | O60721 |
OMAi | WPESRQK |
OrthoDBi | 1168500at2759 |
PhylomeDBi | O60721 |
TreeFami | TF318759 |
Enzyme and pathway databases
PathwayCommonsi | O60721 |
Reactomei | R-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) |
SignaLinki | O60721 |
SIGNORi | O60721 |
Miscellaneous databases
BioGRID-ORCSi | 9187, 9 hits in 1072 CRISPR screens |
ChiTaRSi | SLC24A1, human |
GenomeRNAii | 9187 |
Pharosi | O60721, Tbio |
PROi | PR:O60721 |
RNActi | O60721, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000074621, Expressed in amniotic fluid and 171 other tissues |
ExpressionAtlasi | O60721, baseline and differential |
Genevisiblei | O60721, HS |
Family and domain databases
Gene3Di | 1.20.1420.30, 2 hits |
InterProi | View protein in InterPro IPR004481, K/Na/Ca-exchanger IPR004837, NaCa_Exmemb IPR044880, NCX_ion-bd_dom_sf IPR004817, SLC24A1 |
PANTHERi | PTHR10846, PTHR10846, 2 hits |
Pfami | View protein in Pfam PF01699, Na_Ca_ex, 2 hits |
TIGRFAMsi | TIGR00927, 2A1904, 1 hit TIGR00367, TIGR00367, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | NCKX1_HUMAN | |
Accessioni | O60721Primary (citable) accession number: O60721 Secondary accession number(s): O43485, O75184, Q17RM9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 13, 2001 |
Last sequence update: | August 1, 1998 | |
Last modified: | May 25, 2022 | |
This is version 177 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families