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Entry version 191 (16 Oct 2019)
Sequence version 1 (01 Jun 1998)
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Protein

Pendrin

Gene

SLC26A4

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

Sodium-independent transporter of chloride and iodide.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 processTransport
LigandChloride

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-427601 Multifunctional anion exchangers
R-HSA-5619046 Defective SLC26A4 causes Pendred syndrome (PDS)

SIGNOR Signaling Network Open Resource

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SIGNORi
O43511

Protein family/group databases

Transport Classification Database

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TCDBi
2.A.53.2.17 the sulfate permease (sulp) 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:
Pendrin
Alternative name(s):
Sodium-independent chloride/iodide transporter
Solute carrier family 26 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:SLC26A4
Synonyms:PDS
<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 7

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:8818 SLC26A4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605646 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O43511

<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 domaini1 – 87CytoplasmicSequence analysisAdd BLAST87
<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>Transmembranei88 – 108HelicalSequence analysisAdd BLAST21
Topological domaini109ExtracellularSequence analysis1
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21
Topological domaini131 – 135CytoplasmicSequence analysis5
Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Topological domaini157 – 191ExtracellularSequence analysisAdd BLAST35
Transmembranei192 – 212HelicalSequence analysisAdd BLAST21
Topological domaini213 – 218CytoplasmicSequence analysis6
Transmembranei219 – 239HelicalSequence analysisAdd BLAST21
Topological domaini240 – 263ExtracellularSequence analysisAdd BLAST24
Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
Topological domaini285 – 295CytoplasmicSequence analysisAdd BLAST11
Transmembranei296 – 316HelicalSequence analysisAdd BLAST21
Topological domaini317 – 344ExtracellularSequence analysisAdd BLAST28
Transmembranei345 – 365HelicalSequence analysisAdd BLAST21
Topological domaini366 – 384CytoplasmicSequence analysisAdd BLAST19
Transmembranei385 – 405HelicalSequence analysisAdd BLAST21
Topological domaini406 – 421ExtracellularSequence analysisAdd BLAST16
Transmembranei422 – 442HelicalSequence analysisAdd BLAST21
Topological domaini443 – 448CytoplasmicSequence analysis6
Transmembranei449 – 469HelicalSequence analysisAdd BLAST21
Topological domaini470 – 486ExtracellularSequence analysisAdd BLAST17
Transmembranei487 – 507HelicalSequence analysisAdd BLAST21
Topological domaini508 – 780CytoplasmicSequence analysisAdd BLAST273

Keywords - Cellular componenti

Cell membrane, 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

Pendred syndrome (PDS)18 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later.
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_02163928S → R in PDS and DFNB4. 2 PublicationsCorresponds to variant dbSNP:rs539699299EnsemblClinVar.1
Natural variantiVAR_02164029E → Q in PDS. 3 PublicationsCorresponds to variant dbSNP:rs111033205EnsemblClinVar.1
Natural variantiVAR_02164178Y → C in PDS. 2 Publications1
Natural variantiVAR_021643102G → R in PDS; fails to localize to cell membrane; abolishes iodide transport. 1 Publication1
Natural variantiVAR_021645105Y → C in PDS. 2 PublicationsCorresponds to variant dbSNP:rs1442599990Ensembl.1
Natural variantiVAR_021646106A → D in PDS. 2 Publications1
Natural variantiVAR_021647117L → F in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport. 2 PublicationsCorresponds to variant dbSNP:rs145254330EnsemblClinVar.1
Natural variantiVAR_021649133S → T in PDS. 2 PublicationsCorresponds to variant dbSNP:rs121908365EnsemblClinVar.1
Natural variantiVAR_021650137S → P in PDS. 1 PublicationCorresponds to variant dbSNP:rs1554354382EnsemblClinVar.1
Natural variantiVAR_021651138V → F in PDS; fails to localize to cell membrane; abolishes iodide transport. 9 PublicationsCorresponds to variant dbSNP:rs111033199EnsemblClinVar.1
Natural variantiVAR_021652139G → A in PDS. 2 Publications1
Natural variantiVAR_011623193T → I in PDS. 2 PublicationsCorresponds to variant dbSNP:rs111033348EnsemblClinVar.1
Natural variantiVAR_007440209G → V in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane. 8 PublicationsCorresponds to variant dbSNP:rs111033303EnsemblClinVar.1
Natural variantiVAR_007441236L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. 8 PublicationsCorresponds to variant dbSNP:rs80338848EnsemblClinVar.1
Natural variantiVAR_021653239V → D in PDS and DFNB4. 2 PublicationsCorresponds to variant dbSNP:rs111033256EnsemblClinVar.1
Natural variantiVAR_021655271D → H in PDS. 2 Publications1
Natural variantiVAR_021656335F → L in PDS and DFNB4. 4 PublicationsCorresponds to variant dbSNP:rs111033212EnsemblClinVar.1
Natural variantiVAR_007444384E → G in PDS; also found at heterozygosity in a patient with hearing loss and unilateral enlargement of the vestibular aqueduct; uncertain pathological significance. 5 PublicationsCorresponds to variant dbSNP:rs111033244EnsemblClinVar.1
Natural variantiVAR_021657391S → N in PDS. 1 Publication1
Natural variantiVAR_058580402V → M in PDS and DFNB4. 1 PublicationCorresponds to variant dbSNP:rs397516414EnsemblClinVar.1
Natural variantiVAR_021659409R → H in PDS. 5 PublicationsCorresponds to variant dbSNP:rs111033305EnsemblClinVar.1
Natural variantiVAR_021661410T → M in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 8 PublicationsCorresponds to variant dbSNP:rs111033220EnsemblClinVar.1
Natural variantiVAR_021662411A → P in PDS. 1 PublicationCorresponds to variant dbSNP:rs1293971731EnsemblClinVar.1
Natural variantiVAR_007445416T → P in PDS and DFNB4; common mutation. 8 PublicationsCorresponds to variant dbSNP:rs28939086EnsemblClinVar.1
Natural variantiVAR_011624445L → W in PDS and DFNB4; also found at heterozygosity in a patient with hearing loss and unilateral enlargement of the vestibular aqueduct; uncertain pathological significance. 8 PublicationsCorresponds to variant dbSNP:rs111033307EnsemblClinVar.1
Natural variantiVAR_021665446Q → R in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 2 PublicationsCorresponds to variant dbSNP:rs768471577EnsemblClinVar.1
Natural variantiVAR_021668480V → D in PDS; retains residual transport function. 2 Publications1
Natural variantiVAR_027240508T → N in PDS. 1 Publication1
Natural variantiVAR_027241514Q → R in PDS. 2 PublicationsCorresponds to variant dbSNP:rs111033316EnsemblClinVar.1
Natural variantiVAR_021670530Y → H in PDS. 6 PublicationsCorresponds to variant dbSNP:rs111033254EnsemblClinVar.1
Natural variantiVAR_027242530Y → S in PDS and DFNB4. 2 PublicationsCorresponds to variant dbSNP:rs747636919EnsemblClinVar.1
Natural variantiVAR_021671552S → I in PDS. 1 Publication1
Natural variantiVAR_021672556Y → C in PDS and DFNB4; partially affects protein localization to cell membrane; abolishes iodide transport. 4 PublicationsCorresponds to variant dbSNP:rs763006761EnsemblClinVar.1
Natural variantiVAR_021673556Y → H in PDS. 1 Publication1
Natural variantiVAR_021674565C → Y in PDS. 3 PublicationsCorresponds to variant dbSNP:rs111033257EnsemblClinVar.1
Natural variantiVAR_021676653V → A in PDS; retains residual transport function. 2 PublicationsCorresponds to variant dbSNP:rs1554361015EnsemblClinVar.1
Natural variantiVAR_007447667F → C in PDS. 1 PublicationCorresponds to variant dbSNP:rs121908360EnsemblClinVar.1
Natural variantiVAR_021677672G → E in PDS; partially affects protein localization to cell membrane; abolishes iodide transport. 4 PublicationsCorresponds to variant dbSNP:rs111033309EnsemblClinVar.1
Natural variantiVAR_021680694S → P in PDS. 1 PublicationCorresponds to variant dbSNP:rs981410021EnsemblClinVar.1
Natural variantiVAR_007448721T → M in DFNB4 and PDS. 4 PublicationsCorresponds to variant dbSNP:rs121908363EnsemblClinVar.1
Natural variantiVAR_007449723H → R in DFNB4 and PDS; common mutation in Korea and Japan. 5 PublicationsCorresponds to variant dbSNP:rs121908362EnsemblClinVar.1
Natural variantiVAR_021681724D → N in PDS. 1 PublicationCorresponds to variant dbSNP:rs994170964EnsemblClinVar.1
Natural variantiVAR_058581775M → T in PDS and DFNB4. 1 Publication1
Deafness, autosomal recessive, 4 (DFNB4)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB4 is associated with an enlarged vestibular aqueduct.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02163928S → R in PDS and DFNB4. 2 PublicationsCorresponds to variant dbSNP:rs539699299EnsemblClinVar.1
Natural variantiVAR_02164290S → L in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs370588279EnsemblClinVar.1
Natural variantiVAR_021647117L → F in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport. 2 PublicationsCorresponds to variant dbSNP:rs145254330EnsemblClinVar.1
Natural variantiVAR_027238123P → S in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs984967571Ensembl.1
Natural variantiVAR_021648132T → I in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs1554354370EnsemblClinVar.1
Natural variantiVAR_027239147M → V in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs760413427Ensembl.1
Natural variantiVAR_064991185R → T in DFNB4; also found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance; may affect subcellular location at the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs542620119EnsemblClinVar.1
Natural variantiVAR_007440209G → V in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane. 8 PublicationsCorresponds to variant dbSNP:rs111033303EnsemblClinVar.1
Natural variantiVAR_079503227A → P in DFNB4. 1 Publication1
Natural variantiVAR_007441236L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. 8 PublicationsCorresponds to variant dbSNP:rs80338848EnsemblClinVar.1
Natural variantiVAR_021653239V → D in PDS and DFNB4. 2 PublicationsCorresponds to variant dbSNP:rs111033256EnsemblClinVar.1
Natural variantiVAR_021654252S → P in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs1315422549Ensembl.1
Natural variantiVAR_064992281V → I in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs727505080EnsemblClinVar.1
Natural variantiVAR_021656335F → L in PDS and DFNB4. 4 PublicationsCorresponds to variant dbSNP:rs111033212EnsemblClinVar.1
Natural variantiVAR_007442369K → E in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs121908361EnsemblClinVar.1
Natural variantiVAR_007443372A → V in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs121908364EnsemblClinVar.1
Natural variantiVAR_021658392N → Y in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs201562855EnsemblClinVar.1
Natural variantiVAR_058580402V → M in PDS and DFNB4. 1 PublicationCorresponds to variant dbSNP:rs397516414EnsemblClinVar.1
Natural variantiVAR_021660409R → P in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs111033305EnsemblClinVar.1
Natural variantiVAR_021661410T → M in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 8 PublicationsCorresponds to variant dbSNP:rs111033220EnsemblClinVar.1
Natural variantiVAR_007445416T → P in PDS and DFNB4; common mutation. 8 PublicationsCorresponds to variant dbSNP:rs28939086EnsemblClinVar.1
Natural variantiVAR_011624445L → W in PDS and DFNB4; also found at heterozygosity in a patient with hearing loss and unilateral enlargement of the vestibular aqueduct; uncertain pathological significance. 8 PublicationsCorresponds to variant dbSNP:rs111033307EnsemblClinVar.1
Natural variantiVAR_021665446Q → R in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 2 PublicationsCorresponds to variant dbSNP:rs768471577EnsemblClinVar.1
Natural variantiVAR_021667457N → K in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs1554359670EnsemblClinVar.1
Natural variantiVAR_021669490I → L in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs200511789EnsemblClinVar.1
Natural variantiVAR_007446497G → S in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs111033308EnsemblClinVar.1
Natural variantiVAR_027242530Y → S in PDS and DFNB4. 2 PublicationsCorresponds to variant dbSNP:rs747636919EnsemblClinVar.1
Natural variantiVAR_021672556Y → C in PDS and DFNB4; partially affects protein localization to cell membrane; abolishes iodide transport. 4 PublicationsCorresponds to variant dbSNP:rs763006761EnsemblClinVar.1
Natural variantiVAR_064993558N → K in DFNB4. 1 Publication1
Natural variantiVAR_027244666S → F in DFNB4. 1 Publication1
Natural variantiVAR_021678676L → Q in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs111033318EnsemblClinVar.1
Natural variantiVAR_007448721T → M in DFNB4 and PDS. 4 PublicationsCorresponds to variant dbSNP:rs121908363EnsemblClinVar.1
Natural variantiVAR_007449723H → R in DFNB4 and PDS; common mutation in Korea and Japan. 5 PublicationsCorresponds to variant dbSNP:rs121908362EnsemblClinVar.1
Natural variantiVAR_058581775M → T in PDS and DFNB4. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

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DisGeNETi
5172

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SLC26A4

MalaCards human disease database

More...
MalaCardsi
SLC26A4
MIMi274600 phenotype
600791 phenotype

Open Targets

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OpenTargetsi
ENSG00000091137

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

More...
Orphaneti
95713 Athyreosis
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
705 Pendred syndrome
95720 Thyroid hypoplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35506

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O43511

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC26A4

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000801641 – 780PendrinAdd BLAST780

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O43511

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

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PaxDbi
O43511

PeptideAtlas

More...
PeptideAtlasi
O43511

PRoteomics IDEntifications database

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PRIDEi
O43511

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
49001 [O43511-1]
6414

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43511

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

More...
PhosphoSitePlusi
O43511

<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

High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000091137 Expressed in 129 organ(s), highest expression level in thyroid gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O43511 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43511 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA042860

<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.ENSP00000265715

<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

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SMRi
O43511

Database of comparative protein structure models

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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 <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini535 – 729STASPROSITE-ProRule annotationAdd BLAST195

<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

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0236 Eukaryota
COG0659 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182695

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000006546

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43511

KEGG Orthology (KO)

More...
KOi
K14702

Identification of Orthologs from Complete Genome Data

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OMAi
FKHKIPI

Database of Orthologous Groups

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OrthoDBi
690428at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O43511

TreeFam database of animal gene trees

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TreeFami
TF313784

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR030285 Pendrin
IPR018045 S04_transporter_CS
IPR011547 SLC26A/SulP_dom
IPR001902 SLC26A/SulP_fam
IPR002645 STAS_dom
IPR036513 STAS_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR11814 PTHR11814, 1 hit
PTHR11814:SF33 PTHR11814:SF33, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01740 STAS, 1 hit
PF00916 Sulfate_transp, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52091 SSF52091, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00815 sulP, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS01130 SLC26A, 1 hit
PS50801 STAS, 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 (2+)i

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

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

Isoform 1 (identifier: O43511-1) [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
MAAPGGRSEP PQLPEYSCSY MVSRPVYSEL AFQQQHERRL QERKTLRESL
60 70 80 90 100
AKCCSCSRKR AFGVLKTLVP ILEWLPKYRV KEWLLSDVIS GVSTGLVATL
110 120 130 140 150
QGMAYALLAA VPVGYGLYSA FFPILTYFIF GTSRHISVGP FPVVSLMVGS
160 170 180 190 200
VVLSMAPDEH FLVSSSNGTV LNTTMIDTAA RDTARVLIAS ALTLLVGIIQ
210 220 230 240 250
LIFGGLQIGF IVRYLADPLV GGFTTAAAFQ VLVSQLKIVL NVSTKNYNGV
260 270 280 290 300
LSIIYTLVEI FQNIGDTNLA DFTAGLLTIV VCMAVKELND RFRHKIPVPI
310 320 330 340 350
PIEVIVTIIA TAISYGANLE KNYNAGIVKS IPRGFLPPEL PPVSLFSEML
360 370 380 390 400
AASFSIAVVA YAIAVSVGKV YATKYDYTID GNQEFIAFGI SNIFSGFFSC
410 420 430 440 450
FVATTALSRT AVQESTGGKT QVAGIISAAI VMIAILALGK LLEPLQKSVL
460 470 480 490 500
AAVVIANLKG MFMQLCDIPR LWRQNKIDAV IWVFTCIVSI ILGLDLGLLA
510 520 530 540 550
GLIFGLLTVV LRVQFPSWNG LGSIPSTDIY KSTKNYKNIE EPQGVKILRF
560 570 580 590 600
SSPIFYGNVD GFKKCIKSTV GFDAIRVYNK RLKALRKIQK LIKSGQLRAT
610 620 630 640 650
KNGIISDAVS TNNAFEPDED IEDLEELDIP TKEIEIQVDW NSELPVKVNV
660 670 680 690 700
PKVPIHSLVL DCGAISFLDV VGVRSLRVIV KEFQRIDVNV YFASLQDYVI
710 720 730 740 750
EKLEQCGFFD DNIRKDTFFL TVHDAILYLQ NQVKSQEGQG SILETITLIQ
760 770 780
DCKDTLELIE TELTEEELDV QDEAMRTLAS
Length:780
Mass (Da):85,723
Last modified:June 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3AEF5D720B155CE0
GO
Isoform 2 (identifier: O43511-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-431: Missing.

Note: No experimental confirmation available.
Show »
Length:349
Mass (Da):39,267
Checksum:i1A8E9A33DC1037BE
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
C9JQG1C9JQG1_HUMAN
Pendrin
SLC26A4
131Annotation 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>
A0A2R8Y4W7A0A2R8Y4W7_HUMAN
Pendrin
SLC26A4
251Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0649886G → V1 PublicationCorresponds to variant dbSNP:rs111033423EnsemblClinVar.1
Natural variantiVAR_02163824R → G in Pendred syndrome/deafness individuals. 1 PublicationCorresponds to variant dbSNP:rs1268256689Ensembl.1
Natural variantiVAR_02163928S → R in PDS and DFNB4. 2 PublicationsCorresponds to variant dbSNP:rs539699299EnsemblClinVar.1
Natural variantiVAR_02164029E → Q in PDS. 3 PublicationsCorresponds to variant dbSNP:rs111033205EnsemblClinVar.1
Natural variantiVAR_02164178Y → C in PDS. 2 Publications1
Natural variantiVAR_02164290S → L in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs370588279EnsemblClinVar.1
Natural variantiVAR_06498999T → M1 PublicationCorresponds to variant dbSNP:rs141142414Ensembl.1
Natural variantiVAR_021643102G → R in PDS; fails to localize to cell membrane; abolishes iodide transport. 1 Publication1
Natural variantiVAR_021644104A → V in Pendred syndrome/deafness individuals. 1 PublicationCorresponds to variant dbSNP:rs1203167658Ensembl.1
Natural variantiVAR_021645105Y → C in PDS. 2 PublicationsCorresponds to variant dbSNP:rs1442599990Ensembl.1
Natural variantiVAR_021646106A → D in PDS. 2 Publications1
Natural variantiVAR_021647117L → F in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport. 2 PublicationsCorresponds to variant dbSNP:rs145254330EnsemblClinVar.1
Natural variantiVAR_027238123P → S in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs984967571Ensembl.1
Natural variantiVAR_021648132T → I in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs1554354370EnsemblClinVar.1
Natural variantiVAR_021649133S → T in PDS. 2 PublicationsCorresponds to variant dbSNP:rs121908365EnsemblClinVar.1
Natural variantiVAR_021650137S → P in PDS. 1 PublicationCorresponds to variant dbSNP:rs1554354382EnsemblClinVar.1
Natural variantiVAR_021651138V → F in PDS; fails to localize to cell membrane; abolishes iodide transport. 9 PublicationsCorresponds to variant dbSNP:rs111033199EnsemblClinVar.1
Natural variantiVAR_021652139G → A in PDS. 2 Publications1
Natural variantiVAR_064990144V → A Found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs772023020Ensembl.1
Natural variantiVAR_027239147M → V in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs760413427Ensembl.1
Natural variantiVAR_064991185R → T in DFNB4; also found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance; may affect subcellular location at the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs542620119EnsemblClinVar.1
Natural variantiVAR_011623193T → I in PDS. 2 PublicationsCorresponds to variant dbSNP:rs111033348EnsemblClinVar.1
Natural variantiVAR_007440209G → V in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane. 8 PublicationsCorresponds to variant dbSNP:rs111033303EnsemblClinVar.1
Natural variantiVAR_079503227A → P in DFNB4. 1 Publication1
Natural variantiVAR_007441236L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. 8 PublicationsCorresponds to variant dbSNP:rs80338848EnsemblClinVar.1
Natural variantiVAR_021653239V → D in PDS and DFNB4. 2 PublicationsCorresponds to variant dbSNP:rs111033256EnsemblClinVar.1
Natural variantiVAR_021654252S → P in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs1315422549Ensembl.1
Natural variantiVAR_021655271D → H in PDS. 2 Publications1
Natural variantiVAR_064992281V → I in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs727505080EnsemblClinVar.1
Natural variantiVAR_053663301P → L. Corresponds to variant dbSNP:rs34373141Ensembl.1
Natural variantiVAR_053664324N → Y1 PublicationCorresponds to variant dbSNP:rs36039758EnsemblClinVar.1
Natural variantiVAR_021656335F → L in PDS and DFNB4. 4 Publications