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Entry version 186 (12 Aug 2020)
Sequence version 2 (04 Nov 2008)
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Protein

Solute carrier family 12 member 1

Gene

SLC12A1

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

Renal sodium, potassium and chloride ion cotransporter that mediates the transepithelial NaCl reabsorption in the thick ascending limb and plays an essential role in the urinary concentration and volume regulation. Electrically silent transporter system.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

Activated 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

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 processIon transport, Potassium transport, Sodium transport, Symport, Transport
LigandChloride, Potassium, Sodium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q13621

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-426117, Cation-coupled Chloride cotransporters
R-HSA-5619104, Defective SLC12A1 causes Bartter syndrome 1 (BS1)

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.30.1.2, 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 1
Alternative name(s):
Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2
Kidney-specific Na-K-Cl symporter
<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:SLC12A1
Synonyms:NKCC2
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000074803.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10910, SLC12A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600839, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13621

<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%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 – 177CytoplasmicSequence analysisAdd BLAST177
<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>Transmembranei178 – 198HelicalSequence analysisAdd BLAST21
Transmembranei202 – 222HelicalSequence analysisAdd BLAST21
Topological domaini223 – 259CytoplasmicSequence analysisAdd BLAST37
Transmembranei260 – 280HelicalSequence analysisAdd BLAST21
Transmembranei303 – 323HelicalSequence analysisAdd BLAST21
Topological domaini324 – 327CytoplasmicSequence analysis4
Transmembranei328 – 348HelicalSequence analysisAdd BLAST21
Transmembranei380 – 400HelicalSequence analysisAdd BLAST21
Topological domaini401 – 417CytoplasmicSequence analysisAdd BLAST17
Transmembranei418 – 438HelicalSequence analysisAdd BLAST21
Transmembranei485 – 505HelicalSequence analysisAdd BLAST21
Topological domaini506 – 550CytoplasmicSequence analysisAdd BLAST45
Transmembranei551 – 571HelicalSequence analysisAdd BLAST21
Transmembranei572 – 592HelicalSequence analysisAdd BLAST21
Topological domaini593 – 609CytoplasmicSequence analysisAdd BLAST17
Transmembranei610 – 630HelicalSequence analysisAdd BLAST21
Transmembranei793 – 813HelicalSequence analysisAdd BLAST21
Topological domaini814 – 1099CytoplasmicSequence analysisAdd BLAST286

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

Bartter syndrome 1, antenatal (BARTS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS1 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.
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_010223272V → F in BARTS1. 1 PublicationCorresponds to variant dbSNP:rs137853158EnsemblClinVar.1
Natural variantiVAR_010224648D → N in BARTS1. 1 PublicationCorresponds to variant dbSNP:rs137853157EnsemblClinVar.1

Keywords - Diseasei

Bartter syndrome, Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
6557

MalaCards human disease database

More...
MalaCardsi
SLC12A1
MIMi601678, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000074803

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

More...
Orphaneti
93604, Antenatal Bartter syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA320

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q13621, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1874

Drug and drug target database

More...
DrugBanki
DB00887, Bumetanide
DB00534, Chlormerodrin
DB00310, Chlorthalidone
DB00903, Etacrynic acid
DB00695, Furosemide
DB00774, Hydroflumethiazide
DB00232, Methyclothiazide
DB02925, Piretanide
DB14500, Potassium
DB11098, Potassium bicarbonate
DB00761, Potassium chloride
DB13620, Potassium gluconate
DB01325, Quinethazone
DB00214, Torasemide

DrugCentral

More...
DrugCentrali
Q13621

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
968

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC12A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
212276464

<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_00001780181 – 1099Solute carrier family 12 member 1Add BLAST1099

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 residuei61PhosphoserineBy similarity1
Modified residuei100PhosphothreonineBy similarity1
Modified residuei105PhosphothreonineBy similarity1
Modified residuei118PhosphothreonineBy similarity1
Modified residuei120PhosphoserineBy similarity1
Modified residuei130Phosphoserine; by AMPKBy similarity1
Modified residuei148PhosphoserineBy similarity1
<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>Glycosylationi446N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi456N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q13621

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q13621

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q13621

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

More...
PaxDbi
Q13621

PeptideAtlas

More...
PeptideAtlasi
Q13621

PRoteomics IDEntifications database

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PRIDEi
Q13621

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
19762
59614 [Q13621-1]
59615 [Q13621-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q13621, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q13621

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

More...
PhosphoSitePlusi
Q13621

<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

Kidney specific.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000074803, Expressed in renal medulla and 189 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13621, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13621, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000074803, Tissue enriched (kidney)

<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

When phosphorylated, interacts with PPP3CB.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
112446, 1 interactor

Protein interaction database and analysis system

More...
IntActi
Q13621, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000379822

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q13621, protein

<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

<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

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eggNOGi
KOG2083, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000158030

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_001883_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q13621

KEGG Orthology (KO)

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KOi
K14425

Identification of Orthologs from Complete Genome Data

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OMAi
EMIEPYC

Database of Orthologous Groups

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OrthoDBi
254933at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q13621

TreeFam database of animal gene trees

More...
TreeFami
TF313191

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004841, AA-permease/SLC12A_dom
IPR013612, AA_permease_N
IPR018491, SLC12_C
IPR002445, Slc12a1
IPR002443, SLC12A1/SLC12A2
IPR004842, SLC12A_fam

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00324, AA_permease, 1 hit
PF08403, AA_permease_N, 1 hit
PF03522, SLC12, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01207, NAKCLTRNSPRT
PR01209, NAKCLTRSPRT2

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 (3+)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 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. 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

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q13621-1) [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
MSLNNSSNVF LDSVPSNTNR FQVSVINENH ESSAAADDNT DPPHYEETSF
60 70 80 90 100
GDEAQKRLRI SFRPGNQECY DNFLQSGETA KTDASFHAYD SHTNTYYLQT
110 120 130 140 150
FGHNTMDAVP KIEYYRNTGS ISGPKVNRPS LLEIHEQLAK NVAVTPSSAD
160 170 180 190 200
RVANGDGIPG DEQAENKEDD QAGVVKFGWV KGVLVRCMLN IWGVMLFIRL
210 220 230 240 250
SWIVGEAGIG LGVLIILLST MVTSITGLST SAIATNGFVR GGGAYYLISR
260 270 280 290 300
SLGPEFGGSI GLIFAFANAV AVAMYVVGFA ETVVDLLKES DSMMVDPTND
310 320 330 340 350
IRIIGSITVV ILLGISVAGM EWEAKAQVIL LVILLIAIAN FFIGTVIPSN
360 370 380 390 400
NEKKSRGFFN YQASIFAENF GPRFTKGEGF FSVFAIFFPA ATGILAGANI
410 420 430 440 450
SGDLEDPQDA IPRGTMLAIF ITTVAYLGVA ICVGACVVRD ATGNMNDTII
460 470 480 490 500
SGMNCNGSAA CGLGYDFSRC RHEPCQYGLM NNFQVMSMVS GFGPLITAGI
510 520 530 540 550
FSATLSSALA SLVSAPKVFQ ALCKDNIYKA LQFFAKGYGK NNEPLRGYIL
560 570 580 590 600
TFLIAMAFIL IAELNTIAPI ISNFFLASYA LINFSCFHAS YAKSPGWRPA
610 620 630 640 650
YGIYNMWVSL FGAVLCCAVM FVINWWAAVI TYVIEFFLYV YVTCKKPDVN
660 670 680 690 700
WGSSTQALSY VSALDNALEL TTVEDHVKNF RPQCIVLTGG PMTRPALLDI
710 720 730 740 750
THAFTKNSGL CICCEVFVGP RKLCVKEMNS GMAKKQAWLI KNKIKAFYAA
760 770 780 790 800
VAADCFRDGV RSLLQASGLG RMKPNTLVIG YKKNWRKAPL TEIENYVGII
810 820 830 840 850
HDAFDFEIGV VIVRISQGFD ISQVLQVQEE LERLEQERLA LEATIKDNEC
860 870 880 890 900
EEESGGIRGL FKKAGKLNIT KTTPKKDGSI NTSQSMHVGE FNQKLVEAST
910 920 930 940 950
QFKKKQEKGT IDVWWLFDDG GLTLLIPYIL TLRKKWKDCK LRIYVGGKIN
960 970 980 990 1000
RIEEEKIVMA SLLSKFRIKF ADIHIIGDIN IRPNKESWKV FEEMIEPYRL
1010 1020 1030 1040 1050
HESCKDLTTA EKLKRETPWK ITDAELEAVK EKSYRQVRLN ELLQEHSRAA
1060 1070 1080 1090
NLIVLSLPVA RKGSISDLLY MAWLEILTKN LPPVLLVRGN HKNVLTFYS
Length:1,099
Mass (Da):121,450
Last modified:November 4, 2008 - 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:iC1C868B7F8B563AC
GO
Isoform B (identifier: Q13621-2)
Sequence is not available
Length:
Mass (Da):
Isoform F (identifier: Q13621-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     214-238: LIILLSTMVTSITGLSTSAIATNGF → IIIGLSVVVTTLTGISMSAICTNGV

Show »
Length:1,099
Mass (Da):121,388
Checksum:i6C8CF44143E5D074
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
A0A2R8Y6V7A0A2R8Y6V7_HUMAN
Solute carrier family 12 member 1
SLC12A1
1,145Annotation 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>
Q8IUN5Q8IUN5_HUMAN
SLC12A1 protein
SLC12A1
430Annotation 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>
H0YLJ2H0YLJ2_HUMAN
Solute carrier family 12 member 1
SLC12A1
648Annotation 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>
H0YNW0H0YNW0_HUMAN
Solute carrier family 12 member 1
SLC12A1
217Annotation 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>
H0YMG9H0YMG9_HUMAN
Solute carrier family 12 member 1
SLC12A1
113Annotation 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 conflicti75Q → H in AAB07364 (PubMed:8640224).Curated1
Isoform F (identifier: Q13621-3)
Sequence conflicti220 – 221VV → TI in AAB07364 (PubMed:8640224).Curated2
Sequence conflicti225L → I in AAB07364 (PubMed:8640224).Curated1
Sequence conflicti228I → M in AAB07364 (PubMed:8640224).Curated1
Sequence conflicti230M → T in AAB07364 (PubMed:8640224).Curated1
Sequence conflicti234C → A in AAB07364 (PubMed:8640224).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010223272V → F in BARTS1. 1 PublicationCorresponds to variant dbSNP:rs137853158EnsemblClinVar.1
Natural variantiVAR_010224648D → N in BARTS1. 1 PublicationCorresponds to variant dbSNP:rs137853157EnsemblClinVar.1
Natural variantiVAR_047257958V → A2 PublicationsCorresponds to variant dbSNP:rs1552311EnsemblClinVar.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_035701214 – 238LIILL…ATNGF → IIIGLSVVVTTLTGISMSAI CTNGV in isoform F. 1 PublicationAdd BLAST25

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U58130 mRNA Translation: AAB07364.1
EF559316 mRNA Translation: ABU69043.2
AC023355 Genomic DNA No translation available.
AC066612 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10129.2 [Q13621-1]
CCDS53940.1 [Q13621-3]

NCBI Reference Sequences

More...
RefSeqi
NP_000329.2, NM_000338.2 [Q13621-1]
NP_001171761.1, NM_001184832.1 [Q13621-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000380993; ENSP00000370381; ENSG00000074803 [Q13621-1]
ENST00000396577; ENSP00000379822; ENSG00000074803 [Q13621-3]
ENST00000647232; ENSP00000493875; ENSG00000074803 [Q13621-3]
ENST00000647546; ENSP00000495332; ENSG00000074803 [Q13621-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6557

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6557

UCSC genome browser

More...
UCSCi
uc001zwn.5, human [Q13621-1]

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
U58130 mRNA Translation: AAB07364.1
EF559316 mRNA Translation: ABU69043.2
AC023355 Genomic DNA No translation available.
AC066612 Genomic DNA No translation available.
CCDSiCCDS10129.2 [Q13621-1]
CCDS53940.1 [Q13621-3]
RefSeqiNP_000329.2, NM_000338.2 [Q13621-1]
NP_001171761.1, NM_001184832.1 [Q13621-3]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi112446, 1 interactor
IntActiQ13621, 3 interactors
STRINGi9606.ENSP00000379822

Chemistry databases

ChEMBLiCHEMBL1874
DrugBankiDB00887, Bumetanide
DB00534, Chlormerodrin
DB00310, Chlorthalidone
DB00903, Etacrynic acid
DB00695, Furosemide
DB00774, Hydroflumethiazide
DB00232, Methyclothiazide
DB02925, Piretanide
DB14500, Potassium
DB11098, Potassium bicarbonate
DB00761, Potassium chloride
DB13620, Potassium gluconate
DB01325, Quinethazone
DB00214, Torasemide
DrugCentraliQ13621
GuidetoPHARMACOLOGYi968

Protein family/group databases

TCDBi2.A.30.1.2, the cation-chloride cotransporter (ccc) family

PTM databases

GlyGeniQ13621, 2 sites
iPTMnetiQ13621
PhosphoSitePlusiQ13621

Polymorphism and mutation databases

BioMutaiSLC12A1
DMDMi212276464

Proteomic databases

EPDiQ13621
jPOSTiQ13621
MassIVEiQ13621
PaxDbiQ13621
PeptideAtlasiQ13621
PRIDEiQ13621
ProteomicsDBi19762
59614 [Q13621-1]
59615 [Q13621-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
11970, 241 antibodies

The DNASU plasmid repository

More...
DNASUi
6557

Genome annotation databases

EnsembliENST00000380993; ENSP00000370381; ENSG00000074803 [Q13621-1]
ENST00000396577; ENSP00000379822; ENSG00000074803 [Q13621-3]
ENST00000647232; ENSP00000493875; ENSG00000074803 [Q13621-3]
ENST00000647546; ENSP00000495332; ENSG00000074803 [Q13621-1]
GeneIDi6557
KEGGihsa:6557
UCSCiuc001zwn.5, human [Q13621-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6557
DisGeNETi6557
EuPathDBiHostDB:ENSG00000074803.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC12A1
HGNCiHGNC:10910, SLC12A1
HPAiENSG00000074803, Tissue enriched (kidney)
MalaCardsiSLC12A1
MIMi600839, gene
601678, phenotype
neXtProtiNX_Q13621
OpenTargetsiENSG00000074803
Orphaneti93604, Antenatal Bartter syndrome
PharmGKBiPA320

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2083, Eukaryota
GeneTreeiENSGT00940000158030
HOGENOMiCLU_001883_0_0_1
InParanoidiQ13621
KOiK14425
OMAiEMIEPYC
OrthoDBi254933at2759
PhylomeDBiQ13621
TreeFamiTF313191

Enzyme and pathway databases

PathwayCommonsiQ13621
ReactomeiR-HSA-426117, Cation-coupled Chloride cotransporters
R-HSA-5619104, Defective SLC12A1 causes Bartter syndrome 1 (BS1)

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
6557, 2 hits in 867 CRISPR screens

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

More...
ChiTaRSi
SLC12A1, human

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

More...
GenomeRNAii
6557
PharosiQ13621, Tclin

Protein Ontology

More...
PROi
PR:Q13621
RNActiQ13621, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000074803, Expressed in renal medulla and 189 other tissues
ExpressionAtlasiQ13621, baseline and differential
GenevisibleiQ13621, HS

Family and domain databases

InterProiView protein in InterPro
IPR004841, AA-permease/SLC12A_dom
IPR013612, AA_permease_N
IPR018491, SLC12_C
IPR002445, Slc12a1
IPR002443, SLC12A1/SLC12A2
IPR004842, SLC12A_fam
PfamiView protein in Pfam
PF00324, AA_permease, 1 hit
PF08403, AA_permease_N, 1 hit
PF03522, SLC12, 1 hit
PRINTSiPR01207, NAKCLTRNSPRT
PR01209, NAKCLTRSPRT2
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 nameiS12A1_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: Q13621
Secondary accession number(s): A8JYA2, E9PDW4
<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: January 11, 2001
Last sequence update: November 4, 2008
Last modified: August 12, 2020
This is version 186 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. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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