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Protein

Sodium/potassium/calcium exchanger 1

Gene

SLC24A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • calcium, potassium:sodium antiporter activity Source: GO_Central
  • calcium channel activity Source: GO_Central
  • symporter activity Source: UniProtKB-KW

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
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)

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC24A1
Synonyms:KIAA0702, NCKX1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000074621.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10975 SLC24A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603617 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60721

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 452ExtracellularSequence analysisAdd BLAST452
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
9187

MalaCards human disease database

More...
MalaCardsi
SLC24A1
MIMi613830 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000074621

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
215 Congenital stationary night blindness

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35851

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC24A1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002233031 – 1099Sodium/potassium/calcium exchanger 1Add BLAST1099
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – ?Not cleaved

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi290N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei658PhosphoserineSequence analysis1
Modified residuei724PhosphothreonineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O60721

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O60721

PeptideAtlas

More...
PeptideAtlasi
O60721

PRoteomics IDEntifications database

More...
PRIDEi
O60721

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49569
49570 [O60721-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O60721

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O60721

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000074621 Expressed in 159 organ(s), highest expression level in amniotic fluid

CleanEx database of gene expression profiles

More...
CleanExi
HS_SLC24A1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O60721 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O60721 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039370

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114624, 2 interactors

Protein interaction database and analysis system

More...
IntActi
O60721, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000261892

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O60721

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O60721

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati494 – 534Alpha-1Add BLAST41
Repeati979 – 1010Alpha-2Add BLAST32

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi860 – 890Poly-GluAdd BLAST31

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1307 Eukaryota
ENOG410Y9YY LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153508

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231933

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG104097

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O60721

KEGG Orthology (KO)

More...
KOi
K13749

Identification of Orthologs from Complete Genome Data

More...
OMAi
PSEEMMM

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0M5C

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O60721

TreeFam database of animal gene trees

More...
TreeFami
TF318759

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004481 K/Na/Ca-exchanger
IPR004837 NaCa_Exmemb
IPR004817 SLC24A1

The PANTHER Classification System

More...
PANTHERi
PTHR10846 PTHR10846, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01699 Na_Ca_ex, 2 hits

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00927 2A1904, 1 hit
TIGR00367 TIGR00367, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H483F5H483_HUMAN
Sodium/potassium/calcium exchanger ...
SLC24A1
985Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YH06H0YH06_HUMAN
Sodium/potassium/calcium exchanger ...
SLC24A1
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti516V → I in AAB97832 (PubMed:9478004).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS45284.1 [O60721-1]
CCDS73742.1 [O60721-3]
CCDS73743.1 [O60721-2]

NCBI Reference Sequences

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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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.173092
Hs.617821

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000261892; ENSP00000261892; ENSG00000074621 [O60721-1]
ENST00000339868; ENSP00000341837; ENSG00000074621 [O60721-3]
ENST00000399033; ENSP00000381991; ENSG00000074621 [O60721-3]
ENST00000546330; ENSP00000439190; ENSG00000074621 [O60721-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9187

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9187

UCSC genome browser

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UCSCi
uc010ujf.2 human [O60721-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
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

3D structure databases

ProteinModelPortaliO60721
SMRiO60721
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114624, 2 interactors
IntActiO60721, 5 interactors
STRINGi9606.ENSP00000261892

Protein family/group databases

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

PTM databases

iPTMnetiO60721
PhosphoSitePlusiO60721

Polymorphism and mutation databases

BioMutaiSLC24A1

Proteomic databases

MaxQBiO60721
PaxDbiO60721
PeptideAtlasiO60721
PRIDEiO60721
ProteomicsDBi49569
49570 [O60721-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9187
DisGeNETi9187
EuPathDBiHostDB:ENSG00000074621.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC24A1
HGNCiHGNC:10975 SLC24A1
HPAiHPA039370
MalaCardsiSLC24A1
MIMi603617 gene
613830 phenotype
neXtProtiNX_O60721
OpenTargetsiENSG00000074621
Orphaneti215 Congenital stationary night blindness
PharmGKBiPA35851

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1307 Eukaryota
ENOG410Y9YY LUCA
GeneTreeiENSGT00940000153508
HOGENOMiHOG000231933
HOVERGENiHBG104097
InParanoidiO60721
KOiK13749
OMAiPSEEMMM
OrthoDBiEOG091G0M5C
PhylomeDBiO60721
TreeFamiTF318759

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)

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SLC24A1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9187

Protein Ontology

More...
PROi
PR:O60721

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

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

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNCKX1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60721
Secondary accession number(s): O43485, O75184, Q17RM9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 13, 2001
Last sequence update: August 1, 1998
Last modified: December 5, 2018
This is version 157 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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