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Entry version 155 (11 Dec 2019)
Sequence version 2 (27 Jul 2011)
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Protein

Sodium/potassium/calcium exchanger 4

Gene

SLC24A4

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

Transports 1 Ca2+ and 1 K+ in exchange for 4 Na+. Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived. May play a role in calcium transport during amelogenesis (By similarity).By similarity

Caution

It is uncertain whether Met-1 or Met-18 is the initiator.Curated

<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

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, Olfaction, Potassium transport, Sensory transduction, Sodium transport, Symport, Transport
LigandCalcium, Potassium, Sodium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-425561 Sodium/Calcium exchangers
R-HSA-5619055 Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.19.4.5 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 4
Alternative name(s):
Na(+)/K(+)/Ca(2+)-exchange protein 4
Solute carrier family 24 member 4
<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:SLC24A4Imported
Synonyms:NCKX4
<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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000140090.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10978 SLC24A4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609840 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NFF2

<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 & Seán O’Donoghue; 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 domaini39 – 97ExtracellularCuratedAdd BLAST59
<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>Transmembranei98 – 118HelicalSequence analysisAdd BLAST21
Topological domaini119 – 142CytoplasmicCuratedAdd BLAST24
Transmembranei143 – 163HelicalSequence analysisAdd BLAST21
Topological domaini164 – 172ExtracellularCurated9
Transmembranei173 – 193HelicalSequence analysisAdd BLAST21
Topological domaini194 – 200CytoplasmicCurated7
Transmembranei201 – 221HelicalSequence analysisAdd BLAST21
Topological domaini222 – 224ExtracellularCurated3
Transmembranei225 – 245HelicalSequence analysisAdd BLAST21
Topological domaini246 – 457CytoplasmicCuratedAdd BLAST212
Transmembranei458 – 478HelicalSequence analysisAdd BLAST21
Topological domaini479ExtracellularCurated1
Transmembranei480 – 500HelicalSequence analysisAdd BLAST21
Topological domaini501 – 526CytoplasmicCuratedAdd BLAST26
Transmembranei527 – 547HelicalSequence analysisAdd BLAST21
Topological domaini548 – 557ExtracellularCurated10
Transmembranei558 – 578HelicalSequence analysisAdd BLAST21
Topological domaini579 – 586CytoplasmicCurated8
Transmembranei587 – 607HelicalSequence analysisAdd BLAST21
Topological domaini608 – 622ExtracellularCuratedAdd BLAST15

Keywords - Cellular componenti

Cell membrane, Cytoplasm, 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

Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.
Related information in OMIM
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_071475146A → V in AI2A5; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs587777537Ensembl.1
Natural variantiVAR_070183499S → C in AI2A5; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs587777536Ensembl.1

Keywords - Diseasei

Amelogenesis imperfecta, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
123041

MalaCards human disease database

More...
MalaCardsi
SLC24A4
MIMi210750 phenotype
615887 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000140090

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

More...
Orphaneti
100032 Hypocalcified amelogenesis imperfecta
100033 Hypomaturation amelogenesis imperfecta

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35854

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NFF2 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC24A4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
341941166

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 38Sequence analysisAdd BLAST38
<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_000001937339 – 622Sodium/potassium/calcium exchanger 4Add BLAST584

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>Glycosylationi69N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi76N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NFF2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8NFF2

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

More...
PaxDbi
Q8NFF2

PeptideAtlas

More...
PeptideAtlasi
Q8NFF2

PRoteomics IDEntifications database

More...
PRIDEi
Q8NFF2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73293 [Q8NFF2-1]
73294 [Q8NFF2-2]
73295 [Q8NFF2-3]
73296 [Q8NFF2-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NFF2

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

More...
PhosphoSitePlusi
Q8NFF2

<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 abundantly in all regions of the brain, aorta, lung and thymus. Expressed at lower levels in the stomach and intestine.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000140090 Expressed in 115 organ(s), highest expression level in primary visual cortex

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NFF2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NFF2 HS

<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

Protein-protein interaction databases

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000431840

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8NFF2 protein

<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

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

More...
SMRi
Q8NFF2

Database of comparative protein structure models

More...
ModBasei
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>Repeati139 – 179Alpha-1Add BLAST41
Repeati495 – 526Alpha-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 biasi395 – 406Poly-ProAdd BLAST12

<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
ENSGT00950000182703

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NFF2

KEGG Orthology (KO)

More...
KOi
K13752

Identification of Orthologs from Complete Genome Data

More...
OMAi
SPPKYRF

Database of Orthologous Groups

More...
OrthoDBi
1168500at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NFF2

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
IPR030232 SLC24A4

The PANTHER Classification System

More...
PANTHERi
PTHR10846 PTHR10846, 1 hit
PTHR10846:SF21 PTHR10846:SF21, 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
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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <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 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NFF2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MALRGTLRPL KVRRRREMLP QQVGFVCAVL ALVCCASGLF GSLGHKTASA
60 70 80 90 100
SKRVLPDTWR NRKLMAPVNG TQTAKNCTDP AIHEFPTDLF SNKERQHGAV
110 120 130 140 150
LLHILGALYM FYALAIVCDD FFVPSLEKIC ERLHLSEDVA GATFMAAGSS
160 170 180 190 200
TPELFASVIG VFITHGDVGV GTIVGSAVFN ILCIIGVCGL FAGQVVRLTW
210 220 230 240 250
WAVCRDSVYY TISVIVLIVF IYDEQIVWWE GLVLIILYVF YILIMKYNVK
260 270 280 290 300
MQAFFTVKQK SIANGNPVNS ELEAGNDFYD GSYDDPSVPL LGQVKEKPQY
310 320 330 340 350
GKNPVVMVDE IMSSSPPKFT FPEAGLRIMI TNKFGPRTRL RMASRIIINE
360 370 380 390 400
RQRLINSANG VSSKPLQNGR HENIENGNVP VENPEDPQQN QEQQPPPQPP
410 420 430 440 450
PPEPEPVEAD FLSPFSVPEA RGDKVKWVFT WPLIFLLCVT IPNCSKPRWE
460 470 480 490 500
KFFMVTFITA TLWIAVFSYI MVWLVTIIGY TLGIPDVIMG ITFLAAGTSV
510 520 530 540 550
PDCMASLIVA RQGLGDMAVS NTIGSNVFDI LVGLGVPWGL QTMVVNYGST
560 570 580 590 600
VKINSRGLVY SVVLLLGSVA LTVLGIHLNK WRLDRKLGVY VLVLYAIFLC
610 620
FSIMIEFNVF TFVNLPMCRE DD
Length:622
Mass (Da):69,042
Last modified:July 27, 2011 - v2
<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:i00D69370E55EE388
GO
Isoform 2 (identifier: Q8NFF2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-64: Missing.

Show »
Length:558
Mass (Da):61,938
Checksum:i3DC0E1DFBC5D7828
GO
Isoform 3 (identifier: Q8NFF2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     275-293: Missing.

Show »
Length:603
Mass (Da):67,001
Checksum:iC8A7D3637BF861F8
GO
Isoform 4 (identifier: Q8NFF2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-109: Missing.
     172-210: Missing.

Show »
Length:474
Mass (Da):52,760
Checksum:i5C9395536A220F7A
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YCX3H0YCX3_HUMAN
Sodium/potassium/calcium exchanger ...
SLC24A4
464Annotation 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>
G3V505G3V505_HUMAN
Sodium/potassium/calcium exchanger ...
SLC24A4
64Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH69653 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAM76070 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAM76071 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC04715 differs from that shown. Probable cloning artifact.Curated
The sequence CAD38903 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti444C → S in BAC04715 (PubMed:14702039).Curated1
Sequence conflicti560Y → H in BAG58108 (PubMed:14702039).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variants in SLC24A4 define the skin/hair/eye pigmentation variation locus 6 (SHEP6) [MIMi:210750]. 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.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071475146A → V in AI2A5; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs587777537Ensembl.1
Natural variantiVAR_070183499S → C in AI2A5; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs587777536Ensembl.1
Natural variantiVAR_042664613V → I. Corresponds to variant dbSNP:rs4900130Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0083701 – 109Missing in isoform 4. 1 PublicationAdd BLAST109
Alternative sequenceiVSP_0083691 – 64Missing in isoform 2. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_008371172 – 210Missing in isoform 4. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_008372275 – 293Missing in isoform 3. 2 PublicationsAdd BLAST19

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
AF520704 mRNA Translation: AAM76070.1 Different initiation.
AF520705 mRNA Translation: AAM76071.1 Different initiation.
AF520706 mRNA Translation: AAM76072.1
AK096171 mRNA Translation: BAC04715.1 Sequence problems.
AK295059 mRNA Translation: BAG58108.1
AL118559 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81485.1
BC069653 mRNA Translation: AAH69653.1 Different initiation.
AL834225 mRNA Translation: CAD38903.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS45155.2 [Q8NFF2-3]
CCDS45156.1 [Q8NFF2-2]
CCDS9903.2 [Q8NFF2-1]

NCBI Reference Sequences

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RefSeqi
NP_705932.2, NM_153646.3 [Q8NFF2-1]
NP_705933.2, NM_153647.3 [Q8NFF2-3]
NP_705934.1, NM_153648.3 [Q8NFF2-2]
XP_011534743.1, XM_011536441.2
XP_011534744.1, XM_011536442.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000393265; ENSP00000376948; ENSG00000140090 [Q8NFF2-2]
ENST00000531433; ENSP00000433302; ENSG00000140090 [Q8NFF2-3]
ENST00000532405; ENSP00000431840; ENSG00000140090 [Q8NFF2-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
123041

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:123041

UCSC genome browser

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UCSCi
uc001yai.4 human [Q8NFF2-1]

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
AF520704 mRNA Translation: AAM76070.1 Different initiation.
AF520705 mRNA Translation: AAM76071.1 Different initiation.
AF520706 mRNA Translation: AAM76072.1
AK096171 mRNA Translation: BAC04715.1 Sequence problems.
AK295059 mRNA Translation: BAG58108.1
AL118559 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81485.1
BC069653 mRNA Translation: AAH69653.1 Different initiation.
AL834225 mRNA Translation: CAD38903.1 Different initiation.
CCDSiCCDS45155.2 [Q8NFF2-3]
CCDS45156.1 [Q8NFF2-2]
CCDS9903.2 [Q8NFF2-1]
RefSeqiNP_705932.2, NM_153646.3 [Q8NFF2-1]
NP_705933.2, NM_153647.3 [Q8NFF2-3]
NP_705934.1, NM_153648.3 [Q8NFF2-2]
XP_011534743.1, XM_011536441.2
XP_011534744.1, XM_011536442.2

3D structure databases

SMRiQ8NFF2
ModBaseiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000431840

Protein family/group databases

TCDBi2.A.19.4.5 the ca(2+):cation antiporter (caca) family

PTM databases

iPTMnetiQ8NFF2
PhosphoSitePlusiQ8NFF2

Polymorphism and mutation databases

BioMutaiSLC24A4
DMDMi341941166

Proteomic databases

EPDiQ8NFF2
MassIVEiQ8NFF2
PaxDbiQ8NFF2
PeptideAtlasiQ8NFF2
PRIDEiQ8NFF2
ProteomicsDBi73293 [Q8NFF2-1]
73294 [Q8NFF2-2]
73295 [Q8NFF2-3]
73296 [Q8NFF2-4]

Genome annotation databases

EnsembliENST00000393265; ENSP00000376948; ENSG00000140090 [Q8NFF2-2]
ENST00000531433; ENSP00000433302; ENSG00000140090 [Q8NFF2-3]
ENST00000532405; ENSP00000431840; ENSG00000140090 [Q8NFF2-1]
GeneIDi123041
KEGGihsa:123041
UCSCiuc001yai.4 human [Q8NFF2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
123041
DisGeNETi123041
EuPathDBiHostDB:ENSG00000140090.17

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC24A4
HGNCiHGNC:10978 SLC24A4
MalaCardsiSLC24A4
MIMi210750 phenotype
609840 gene
615887 phenotype
neXtProtiNX_Q8NFF2
OpenTargetsiENSG00000140090
Orphaneti100032 Hypocalcified amelogenesis imperfecta
100033 Hypomaturation amelogenesis imperfecta
PharmGKBiPA35854

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1307 Eukaryota
ENOG410Y9YY LUCA
GeneTreeiENSGT00950000182703
InParanoidiQ8NFF2
KOiK13752
OMAiSPPKYRF
OrthoDBi1168500at2759
PhylomeDBiQ8NFF2
TreeFamiTF318759

Enzyme and pathway databases

ReactomeiR-HSA-425561 Sodium/Calcium exchangers
R-HSA-5619055 Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)

Miscellaneous databases

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

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GenomeRNAii
123041
PharosiQ8NFF2 Tbio

Protein Ontology

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PROi
PR:Q8NFF2
RNActiQ8NFF2 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000140090 Expressed in 115 organ(s), highest expression level in primary visual cortex
ExpressionAtlasiQ8NFF2 baseline and differential
GenevisibleiQ8NFF2 HS

Family and domain databases

InterProiView protein in InterPro
IPR004481 K/Na/Ca-exchanger
IPR004837 NaCa_Exmemb
IPR030232 SLC24A4
PANTHERiPTHR10846 PTHR10846, 1 hit
PTHR10846:SF21 PTHR10846:SF21, 1 hit
PfamiView protein in Pfam
PF01699 Na_Ca_ex, 2 hits
TIGRFAMsiTIGR00367 TIGR00367, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiNCKX4_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: Q8NFF2
Secondary accession number(s): B4DHE7
, B9ZVY2, Q8N8U6, Q8NCX1, Q8NFF0, Q8NFF1
<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: September 26, 2003
Last sequence update: July 27, 2011
Last modified: December 11, 2019
This is version 155 of the entry and version 2 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

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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