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UniProtKB - Q9UP95 (S12A4_HUMAN)

Entry version 187 (07 Apr 2021)
Sequence version 2 (13 Dec 2002)
Previous versions | rss
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Protein

Solute carrier family 12 member 4

Gene

SLC12A4

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

Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl- exit in NaCl absorbing epithelia (By similarity). Isoform 4 has no transport activity.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by WNK3.1 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 processIon transport, Potassium transport, Symport, Transport
LigandChloride, Potassium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9UP95

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-426117, Cation-coupled Chloride cotransporters

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.30.1.17, the cation-chloride cotransporter (ccc) 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%5Fand%5Ftaxonomy%5Fsection">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:
Solute carrier family 12 member 4
Alternative name(s):
Electroneutral potassium-chloride cotransporter 1
Erythroid K-Cl cotransporter 1
Short name:
hKCC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SLC12A4
Synonyms:KCC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:10913, SLC12A4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604119, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UP95

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000124067.16

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 – 118CytoplasmicSequence analysisAdd BLAST118
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei119 – 139HelicalSequence analysisAdd BLAST21
Transmembranei149 – 169HelicalSequence analysisAdd BLAST21
Topological domaini170 – 214CytoplasmicSequence analysisAdd BLAST45
Transmembranei215 – 235HelicalSequence analysisAdd BLAST21
Transmembranei253 – 273HelicalSequence analysisAdd BLAST21
Topological domaini274 – 275CytoplasmicSequence analysis2
Transmembranei276 – 296HelicalSequence analysisAdd BLAST21
Transmembranei356 – 376HelicalSequence analysisAdd BLAST21
Topological domaini377 – 407CytoplasmicSequence analysisAdd BLAST31
Transmembranei408 – 428HelicalSequence analysisAdd BLAST21
Transmembranei453 – 473HelicalSequence analysisAdd BLAST21
Topological domaini474 – 493CytoplasmicSequence analysisAdd BLAST20
Transmembranei494 – 514HelicalSequence analysisAdd BLAST21
Transmembranei567 – 587HelicalSequence analysisAdd BLAST21
Topological domaini588 – 627CytoplasmicSequence analysisAdd BLAST40
Transmembranei628 – 648HelicalSequence analysisAdd BLAST21
Transmembranei845 – 865HelicalSequence analysisAdd BLAST21
Topological domaini866 – 1085CytoplasmicSequence analysisAdd BLAST220

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

Organism-specific databases

DisGeNET

More...DisGeNETi		6560

Open Targets

More...OpenTargetsi		ENSG00000124067

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35807

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UP95, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00887, Bumetanide
DB00761, Potassium chloride

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC12A4

Domain mapping of disease mutations (DMDM)

More...DMDMi		27151691

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001780301 – 1085Solute carrier family 12 member 4Add BLAST1085

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei24PhosphoserineCombined sources1
Modified residuei47PhosphoserineBy similarity1
Modified residuei51PhosphoserineCombined sources1
Modified residuei81PhosphoserineBy similarity1
Modified residuei88PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi245N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi312N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi331N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi347N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi439N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei967PhosphoserineCombined sources1
Modified residuei983PhosphothreonineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

N-glycosylated.

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UP95

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UP95

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UP95

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

More...PaxDbi		Q9UP95

PeptideAtlas

More...PeptideAtlasi		Q9UP95

PRoteomics IDEntifications database

More...PRIDEi		Q9UP95

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		25245
25434
26226
85360 [Q9UP95-1]
85361 [Q9UP95-2]
85362 [Q9UP95-3]
85363 [Q9UP95-4]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9UP95, 5 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UP95

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

More...PhosphoSitePlusi		Q9UP95

<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

Ubiquitous. Levels are much higher in erythrocytes from patients with Hb SC and Hb SS compared to normal AA erythrocytes. This may contribute to red blood cell dehydration and to the manifestation of sickle cell disease by increasing the intracellular concentration of HbS. Isoform 1 was not detected in circulating reticulocytes.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000124067, Expressed in heart left ventricle and 204 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UP95, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UP95, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000124067, Low tissue specificity

<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%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homomultimer and heteromultimer with other K-Cl cotransporters.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112449, 65 interactors

Protein interaction database and analysis system

More...IntActi		Q9UP95, 34 interactors

Molecular INTeraction database

More...MINTi		Q9UP95

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000395983

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9UP95, 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

Secondary structure

11085
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q9UP95

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

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 biasi160 – 163Poly-Cys4

<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

Belongs to the SLC12A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2082, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157672

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001883_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UP95

Identification of Orthologs from Complete Genome Data

More...OMAi		AQCDDYF

Database of Orthologous Groups

More...OrthoDBi		349744at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UP95

TreeFam database of animal gene trees

More...TreeFami		TF313657

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR004841, AA-permease/SLC12A_dom
IPR000622, KCC1
IPR000076, KCL_cotranspt
IPR018491, SLC12_C
IPR004842, SLC12A_fam

The PANTHER Classification System

More...PANTHERi		PTHR11827:SF46, PTHR11827:SF46, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00324, AA_permease, 2 hits
PF03522, SLC12, 2 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01081, KCLTRNSPORT
PR01082, KCLTRNSPORT1

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00930, 2a30, 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%5Flength">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 (7+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 7 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 7 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UP95-1) [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
MPHFTVVPVD GPRRGDYDNL EGLSWVDYGE RAELDDSDGH GNHRESSPFL 
        60         70         80         90        100
SPLEASRGID YYDRNLALFE EELDIRPKVS SLLGKLVSYT NLTQGAKEHE 
       110        120        130        140        150
EAESGEGTRR RAAEAPSMGT LMGVYLPCLQ NIFGVILFLR LTWMVGTAGV 
       160        170        180        190        200
LQALLIVLIC CCCTLLTAIS MSAIATNGVV PAGGSYFMIS RSLGPEFGGA 
       210        220        230        240        250
VGLCFYLGTT FAAAMYILGA IEILLTYIAP PAAIFYPSGA HDTSNATLNN 
       260        270        280        290        300
MRVYGTIFLT FMTLVVFVGV KYVNKFASLF LACVIISILS IYAGGIKSIF 
       310        320        330        340        350
DPPVFPVCML GNRTLSRDQF DICAKTAVVD NETVATQLWS FFCHSPNLTT 
       360        370        380        390        400
DSCDPYFMLN NVTEIPGIPG AAAGVLQENL WSAYLEKGDI VEKHGLPSAD 
       410        420        430        440        450
APSLKESLPL YVVADIATSF TVLVGIFFPS VTGIMAGSNR SGDLRDAQKS 
       460        470        480        490        500
IPVGTILAII TTSLVYFSSV VLFGACIEGV VLRDKYGDGV SRNLVVGTLA 
       510        520        530        540        550
WPSPWVIVIG SFFSTCGAGL QSLTGAPRLL QAIAKDNIIP FLRVFGHGKV 
       560        570        580        590        600
NGEPTWALLL TALIAELGIL IASLDMVAPI LSMFFLMCYL FVNLACAVQT 
       610        620        630        640        650
LLRTPNWRPR FKYYHWALSF LGMSLCLALM FVSSWYYALV AMLIAGMIYK 
       660        670        680        690        700
YIEYQGAEKE WGDGIRGLSL SAARYALLRL EEGPPHTKNW RPQLLVLLKL 
       710        720        730        740        750
DEDLHVKYPR LLTFASQLKA GKGLTIVGSV IQGSFLESYG EAQAAEQTIK 
       760        770        780        790        800
NMMEIEKVKG FCQVVVASKV REGLAHLIQS CGLGGMRHNS VVLGWPYGWR 
       810        820        830        840        850
QSEDPRAWKT FIDTVRCTTA AHLALLVPKN IAFYPSNHER YLEGHIDVWW 
       860        870        880        890        900
IVHDGGMLML LPFLLRQHKV WRKCRMRIFT VAQMDDNSIQ MKKDLAVFLY 
       910        920        930        940        950
HLRLEAEVEV VEMHNSDISA YTYERTLMME QRSQMLRQMR LTKTEREREA 
       960        970        980        990       1000
QLVKDRHSAL RLESLYSDEE DESAVGADKI QMTWTRDKYM TETWDPSHAP 
      1010       1020       1030       1040       1050
DNFRELVHIK PDQSNVRRMH TAVKLNEVIV TRSHDARLVL LNMPGPPRNS 
      1060       1070       1080 
EGDENYMEFL EVLTEGLERV LLVRGGGREV ITIYS
Length:1,085
Mass (Da):120,650
Last modified:December 13, 2002 - 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:i42B590EC3D94EA4D
GO
Isoform 2 (identifier: Q9UP95-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1056-1068: YMEFLEVLTEGLE → CIPLWRGRQLGGG
     1069-1085: Missing.

Show »
Length:1,068
Mass (Da):118,620
Checksum:i7A1FB4FD47252C88
GO
Isoform 3 (identifier: Q9UP95-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1012-1085: Missing.

Show »
Length:1,011
Mass (Da):112,275
Checksum:i33860CBEC1BE578B
GO
Isoform 4 (identifier: Q9UP95-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     749-955: Missing.
     956-958: RHS → PCA
     963-987: ESLYSDEEDESAVGADKIQMTWTRD → PTWPCSCPRTSPSTPATTSATWRAT
     988-1085: Missing.

Show »
Length:780
Mass (Da):84,701
Checksum:i63DD249B6CA8689C
GO
Isoform 5 (identifier: Q9UP95-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: MPHFTVVPVDGPRRGDYDNLEGLSWVDYGERAELDDSD → MGDTLSP

Show »
Length:1,054
Mass (Da):117,046
Checksum:i328721D9B50DF738
GO
Isoform 6 (identifier: Q9UP95-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: MPHFTVVPVDGPRRGDYDNLEGLSWVDYGERAELDDSD → MAAEGAVCGFVYLEGTAWAVPEDTEPLASCTL

Show »
Length:1,079
Mass (Da):119,629
Checksum:iEC9A4E5C31C90A87
GO
Isoform 7 (identifier: Q9UP95-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: MPHFTVVPVD...YYDRNLALFE → MRAGGACRPG...GSAPSWMTRT

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Length:1,087
Mass (Da):119,745
Checksum:i701F57E7F5732CBD
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QRE2J3QRE2_HUMAN
Solute carrier family 12 member 4
SLC12A4
178Annotation 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>
I3L4N6I3L4N6_HUMAN
Solute carrier family 12 member 4
SLC12A4
1,037Annotation 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>
J3QSF2J3QSF2_HUMAN
Solute carrier family 12 member 4
SLC12A4
90Annotation 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>
I3L1N8I3L1N8_HUMAN
Solute carrier family 12 member 4
SLC12A4
54Annotation 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>
J3QKM4J3QKM4_HUMAN
Solute carrier family 12 member 4
SLC12A4
19Annotation 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 AAC35282 differs from that shown. Reason: Frameshift.Curated
The sequence BAG57330 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 conflicti42N → D in BAG61116 (PubMed:14702039).Curated1
Sequence conflicti211F → L in BAG63994 (PubMed:14702039).Curated1
Sequence conflicti288I → N in BAG63994 (PubMed:14702039).Curated1
Sequence conflicti370G → R in BAG57330 (PubMed:14702039).Curated1
Sequence conflicti697L → P in BAG63994 (PubMed:14702039).Curated1
Sequence conflicti1016V → A in BAG57330 (PubMed:14702039).Curated1
Sequence conflicti1055N → D in BAG57330 (PubMed:14702039).Curated1
Isoform 6 (identifier: Q9UP95-6)
Sequence conflicti4E → G in BAH14786 (PubMed:14702039).Curated1

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_0463691 – 70MPHFT…LALFE → MRAGGACRPGAAGTAAGTAA GGWDGGCGGAEPARCLTSPW CQWTGRGAATMTTSRGSVGW TTGSAPSWMTRT in isoform 7. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_0445961 – 38MPHFT…LDDSD → MGDTLSP in isoform 5. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_0461461 – 38MPHFT…LDDSD → MAAEGAVCGFVYLEGTAWAV PEDTEPLASCTL in isoform 6. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_006108749 – 955Missing in isoform 4. 1 PublicationAdd BLAST207
Alternative sequenceiVSP_006109956 – 958RHS → PCA in isoform 4. 1 Publication3
Alternative sequenceiVSP_006110963 – 987ESLYS…TWTRD → PTWPCSCPRTSPSTPATTSA TWRAT in isoform 4. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_006111988 – 1085Missing in isoform 4. 1 PublicationAdd BLAST98
Alternative sequenceiVSP_0061121012 – 1085Missing in isoform 3. 1 PublicationAdd BLAST74
Alternative sequenceiVSP_0061131056 – 1068YMEFL…TEGLE → CIPLWRGRQLGGG in isoform 2. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_0061141069 – 1085Missing in isoform 2. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U55054 mRNA Translation: AAC50563.1
AF047338 mRNA Translation: AAC32815.1
AF054505 mRNA Translation: AAC39684.1
AF054506 mRNA Translation: AAC39685.1
AK293956 mRNA Translation: BAG57330.1 Different initiation.
AK299042 mRNA Translation: BAG61116.1
AK302790 mRNA Translation: BAG63994.1
AK316415 mRNA Translation: BAH14786.1
AC040162 Genomic DNA No translation available.
BC021193 mRNA Translation: AAH21193.1
AF053402 mRNA Translation: AAC35282.1 Frameshift.
AY026038 mRNA Translation: AAK01946.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10855.1 [Q9UP95-1]
CCDS54030.1 [Q9UP95-6]
CCDS54031.1 [Q9UP95-5]
CCDS54032.1 [Q9UP95-7]

NCBI Reference Sequences

More...RefSeqi		NP_001139433.1, NM_001145961.1
NP_001139434.1, NM_001145962.1 [Q9UP95-7]
NP_001139435.1, NM_001145963.1 [Q9UP95-6]
NP_001139436.1, NM_001145964.1 [Q9UP95-5]
NP_005063.1, NM_005072.4 [Q9UP95-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000316341; ENSP00000318557; ENSG00000124067 [Q9UP95-1]
ENST00000422611; ENSP00000395983; ENSG00000124067 [Q9UP95-7]
ENST00000537830; ENSP00000445962; ENSG00000124067 [Q9UP95-6]
ENST00000541864; ENSP00000438334; ENSG00000124067 [Q9UP95-5]
ENST00000576616; ENSP00000458902; ENSG00000124067 [Q9UP95-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6560

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6560

UCSC genome browser

More...UCSCi		uc002euz.2, human [Q9UP95-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
U55054 mRNA Translation: AAC50563.1
AF047338 mRNA Translation: AAC32815.1
AF054505 mRNA Translation: AAC39684.1
AF054506 mRNA Translation: AAC39685.1
AK293956 mRNA Translation: BAG57330.1 Different initiation.
AK299042 mRNA Translation: BAG61116.1
AK302790 mRNA Translation: BAG63994.1
AK316415 mRNA Translation: BAH14786.1
AC040162 Genomic DNA No translation available.
BC021193 mRNA Translation: AAH21193.1
AF053402 mRNA Translation: AAC35282.1 Frameshift.
AY026038 mRNA Translation: AAK01946.1
CCDSiCCDS10855.1 [Q9UP95-1]
CCDS54030.1 [Q9UP95-6]
CCDS54031.1 [Q9UP95-5]
CCDS54032.1 [Q9UP95-7]
RefSeqiNP_001139433.1, NM_001145961.1
NP_001139434.1, NM_001145962.1 [Q9UP95-7]
NP_001139435.1, NM_001145963.1 [Q9UP95-6]
NP_001139436.1, NM_001145964.1 [Q9UP95-5]
NP_005063.1, NM_005072.4 [Q9UP95-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6KKRelectron microscopy2.90A/B1-1085[»]
6KKTelectron microscopy2.90A/B1-1085[»]
6KKUelectron microscopy3.50A/B1-1085[»]
SMRiQ9UP95
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112449, 65 interactors
IntActiQ9UP95, 34 interactors
MINTiQ9UP95
STRINGi9606.ENSP00000395983

Chemistry databases

DrugBankiDB00887, Bumetanide
DB00761, Potassium chloride

Protein family/group databases

TCDBi2.A.30.1.17, the cation-chloride cotransporter (ccc) family

PTM databases

GlyGeniQ9UP95, 5 sites
iPTMnetiQ9UP95
PhosphoSitePlusiQ9UP95

Genetic variation databases

BioMutaiSLC12A4
DMDMi27151691

Proteomic databases

EPDiQ9UP95
jPOSTiQ9UP95
MassIVEiQ9UP95
PaxDbiQ9UP95
PeptideAtlasiQ9UP95
PRIDEiQ9UP95
ProteomicsDBi25245
25434
26226
85360 [Q9UP95-1]
85361 [Q9UP95-2]
85362 [Q9UP95-3]
85363 [Q9UP95-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		29685, 174 antibodies

The DNASU plasmid repository

More...DNASUi		6560

Genome annotation databases

EnsembliENST00000316341; ENSP00000318557; ENSG00000124067 [Q9UP95-1]
ENST00000422611; ENSP00000395983; ENSG00000124067 [Q9UP95-7]
ENST00000537830; ENSP00000445962; ENSG00000124067 [Q9UP95-6]
ENST00000541864; ENSP00000438334; ENSG00000124067 [Q9UP95-5]
ENST00000576616; ENSP00000458902; ENSG00000124067 [Q9UP95-2]
GeneIDi6560
KEGGihsa:6560
UCSCiuc002euz.2, human [Q9UP95-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6560
DisGeNETi6560

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC12A4
HGNCiHGNC:10913, SLC12A4
HPAiENSG00000124067, Low tissue specificity
MIMi604119, gene
neXtProtiNX_Q9UP95
OpenTargetsiENSG00000124067
PharmGKBiPA35807
VEuPathDBiHostDB:ENSG00000124067.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2082, Eukaryota
GeneTreeiENSGT00940000157672
HOGENOMiCLU_001883_1_1_1
InParanoidiQ9UP95
OMAiAQCDDYF
OrthoDBi349744at2759
PhylomeDBiQ9UP95
TreeFamiTF313657

Enzyme and pathway databases

PathwayCommonsiQ9UP95
ReactomeiR-HSA-426117, Cation-coupled Chloride cotransporters

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6560, 11 hits in 994 CRISPR screens

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

More...ChiTaRSi		SLC12A4, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Chloride_potassium_symporter_4

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

More...GenomeRNAii		6560
PharosiQ9UP95, Tbio

Protein Ontology

More...PROi		PR:Q9UP95
RNActiQ9UP95, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000124067, Expressed in heart left ventricle and 204 other tissues
ExpressionAtlasiQ9UP95, baseline and differential
GenevisibleiQ9UP95, HS

Family and domain databases

InterProiView protein in InterPro
IPR004841, AA-permease/SLC12A_dom
IPR000622, KCC1
IPR000076, KCL_cotranspt
IPR018491, SLC12_C
IPR004842, SLC12A_fam
PANTHERiPTHR11827:SF46, PTHR11827:SF46, 1 hit
PfamiView protein in Pfam
PF00324, AA_permease, 2 hits
PF03522, SLC12, 2 hits
PRINTSiPR01081, KCLTRNSPORT
PR01082, KCLTRNSPORT1
TIGRFAMsiTIGR00930, 2a30, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiS12A4_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: Q9UP95
Secondary accession number(s): B4DF69
, B4DR04, B4DZ82, B7ZAV0, F5H066, F5H0S9, F5H3C0, O60632, O75893, Q13953, Q96LD5
<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%5Fand%5Fisoforms">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, 2002
Last sequence update: December 13, 2002
Last modified: April 7, 2021
This is version 187 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
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