[1]	NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT PDS CYS-667. TISSUE=Thyroid; DOI=10.1038/ng1297-411; PubMed=9398842 [NCBI, ExPASy, EBI, Israel, Japan] Everett L.A., Glaser B., Beck J.C., Idol J.R., Buchs A., Heyman M., Adawi F., Hazani E., Nassir E., Baxevanis A.D., Sheffield V.C., Green E.D.; "Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)."; Nat. Genet. 17:411-422(1997).
[2]	NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. DOI=10.1038/nature01782; PubMed=12853948 [NCBI, ExPASy, EBI, Israel, Japan] Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.; "The DNA sequence of human chromosome 7."; Nature 424:157-164(2003).
[3]	FUNCTION. DOI=10.1038/7783; PubMed=10192399 [NCBI, ExPASy, EBI, Israel, Japan] Scott D.A., Wang R., Kreman T.M., Sheffield V.C., Karnishki L.P.; "The Pendred syndrome gene encodes a chloride-iodide transport protein."; Nat. Genet. 21:440-443(1999).
[4]	VARIANTS PDS PHE-138; ALA-139; VAL-209; PRO-236; HIS-271; HIS-409; PRO-416; TRP-445; TYR-565 AND ARG-723. DOI=10.1093/hmg/7.7.1099; PubMed=9618166 [NCBI, ExPASy, EBI, Israel, Japan] van Hauwe P., Everett L.A., Coucke P., Scott D.A., Kraft M.L., Ris-Stalpers C., Bolder C., Otten B., de Vijlder J.J.M., Dietrich N.L., Ramesh A., Srisailapathy S.C.R., Parving A., Cremers C.W.R.J., Willems P.J., Smith R.J.H., Green E.D., van Camp G.; "Two frequent missense mutations in Pendred syndrome."; Hum. Mol. Genet. 7:1099-1104(1998).
[5]	VARIANTS PDS PHE-138; PRO-236; GLY-384; HIS-409; MET-410; PRO-416; HIS-530; CYS-556 AND GLU-672. DOI=10.1093/hmg/7.7.1105; PubMed=9618167 [NCBI, ExPASy, EBI, Israel, Japan] Coyle B., Reardon W., Herbrick J.-A., Tsui L.-C., Gausden E., Lee J., Coffey R., Grueters A., Grossman A., Phelps P.D., Luxon L., Kendall-Taylor P., Scherer S.W., Trembath R.C.; "Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)."; Hum. Mol. Genet. 7:1105-1112(1998).
[6]	VARIANTS DFNB4 LEU-490 AND SER-497. DOI=10.1038/ng0398-215; PubMed=9500541 [NCBI, ExPASy, EBI, Israel, Japan] Li X.C., Everett L.A., Lalwani A.K., Desmukh D., Friedman T.B., Green E.D., Wilcox E.R.; "A mutation in PDS causes non-syndromic recessive deafness."; Nat. Genet. 18:215-217(1998).
[7]	VARIANTS DFNB4 VAL-209; GLU-369; VAL-372; MET-721 AND ARG-723. DOI=10.1007/s004390050933; PubMed=10190331 [NCBI, ExPASy, EBI, Israel, Japan] Usami S., Abe S., Weston M.D., Shinkawa H., Van Camp G., Kimberling W.J.; "Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations."; Hum. Genet. 104:188-192(1999).
[8]	VARIANT PDS TRP-445. DOI=10.1002/(SICI)1096-8628(20000103)90:1<38::AID-AJMG8>3.3.CO;2-I; PubMed=10602116 [NCBI, ExPASy, EBI, Israel, Japan] Masmoudi S., Charfedine I., Hmani M., Grati M., Ghorbel A.M., Elgaied-Boulila A., Drira M., Hardelin J.-P., Ayadi M.; "Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation."; Am. J. Med. Genet. 90:38-44(2000).
[9]	VARIANT PDS ASN-508. DOI=10.1046/j.1365-2265.2000.00930.x; PubMed=10718825 [NCBI, ExPASy, EBI, Israel, Japan] Bogazzi F., Raggi F., Ultimieri F., Campomori A., Cosci C., Berrettini S., Neri E., La Rocca R., Ronca G., Martino E., Bartalena L.; "A novel mutation in the pendrin gene associated with Pendred's syndrome."; Clin. Endocrinol. (Oxf.) 52:279-285(2000).
[10]	VARIANT PDS ILE-193. DOI=10.1038/sj.ejhg.5200489; PubMed=10878664 [NCBI, ExPASy, EBI, Israel, Japan] Adato A., Raskin L., Petit C., Bonne-Tamir B.; "Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus."; Eur. J. Hum. Genet. 8:437-442(2000).
[11]	VARIANTS DFNB4 PHE-117; VAL-209; PRO-236; MET-410; PRO-416; TRP-445 AND ARG-446. DOI=10.1093/qjmed/93.2.99; PubMed=10700480 [NCBI, ExPASy, EBI, Israel, Japan] Reardon W., O'Mahoney C.F., Trembath R., Jan H., Phelps P.D.; "Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene."; QJM 93:99-104(2000).
[12]	VARIANTS PDS PHE-138 AND PRO-411. DOI=10.1530/eje.0.1440585; PubMed=11375792 [NCBI, ExPASy, EBI, Israel, Japan] Gonzalez Trevino O., Karamanoglu Arseven O., Ceballos C.J., Vives V.I., Ramirez R.C., Gomez V.V., Medeiros-Neto G., Kopp P.; "Clinical and molecular analysis of three Mexican families with Pendred's syndrome."; Eur. J. Endocrinol. 144:585-593(2001).
[13]	VARIANTS PDS GLN-29; CYS-105; ASP-106; PHE-138; VAL-209; PRO-236; LEU-335; PRO-416; ASP-480; HIS-530; SER-597; ALA-653 AND GLU-672. DOI=10.1002/humu.1116; PubMed=11317356 [NCBI, ExPASy, EBI, Israel, Japan] Campbell C., Cucci R.A., Prasad S., Green G.E., Edeal J.B., Galer C.E., Karniski L.P., Sheffield V.C., Smith R.J.H.; "Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations."; Hum. Mutat. 17:403-411(2001).
[14]	VARIANTS PDS TRP-445; HIS-556 AND MET-721, AND VARIANTS DFNB4 ILE-132 AND MET-410. DOI=10.1002/humu.1238; PubMed=11748854 [NCBI, ExPASy, EBI, Israel, Japan] Lopez-Bigas N., Melchionda S., de Cid R., Grifa A., Zelante L., Govea N., Arbones M.L., Gasparini P., Estivill X.; "Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment."; Hum. Mutat. 18:548-548(2001).
[15]	ERRATUM. DOI=10.1002/humu.9043; PubMed=12112665 [NCBI, ExPASy, EBI, Israel, Japan] Lopez-Bigas N., Melchionda S., de Cid R., Grifa A., Zelante L., Govea N., Arbones M.L., Gasparini P., Estivill X.; Hum. Mutat. 20:77-78(2002).
[16]	CHARACTERIZATION OF VARIANTS PDS ARG-102; PHE-117; PHE-138; VAL-209; PRO-236; MET-410; ARG-446; CYS-556 AND GLU-672. DOI=10.1210/jc.87.4.1778; PubMed=11932316 [NCBI, ExPASy, EBI, Israel, Japan] Taylor J.P., Metcalfe R.A., Watson P.F., Weetman A.P., Trembath R.C.; "Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome."; J. Clin. Endocrinol. Metab. 87:1778-1784(2002).
[17]	VARIANTS PDS ARG-28; THR-133; HIS-409; MET-410 AND SER-597. DOI=10.1203/00006450-200204000-00013; PubMed=11919333 [NCBI, ExPASy, EBI, Israel, Japan] Fugazzola L., Cerutti N., Mannavola D., Crino A., Cassio A., Gasparoni P., Vannucchi G., Beck-Peccoz P.; "Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies."; Pediatr. Res. 51:479-484(2002).
[18]	VARIANTS PDS ASP-239 AND ARG-723. DOI=10.1034/j.1399-0004.2003.00144.x; PubMed=12974744 [NCBI, ExPASy, EBI, Israel, Japan] Tekin M., Akcayoez D., Comak E., Bogoclu G., Duman T., Fitoz S., Ilhan I., Akar N.; "Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey."; Clin. Genet. 64:371-374(2003).
[19]	VARIANTS DFNB4 SER-123; VAL-147 AND PHE-666. DOI=10.1038/sj.ejhg.5201073; PubMed=14508505 [NCBI, ExPASy, EBI, Israel, Japan] Tsukamoto K., Suzuki H., Harada D., Namba A., Abe S., Usami S.; "Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese."; Eur. J. Hum. Genet. 11:916-922(2003).
[20]	VARIANTS PDS THR-133; PHE-138; GLY-384 AND HIS-530. DOI=10.1210/jc.2002-021334; PubMed=12788906 [NCBI, ExPASy, EBI, Israel, Japan] Borck G., Roth C., Martine U., Wildhardt G., Pohlenz J.; "Mutations in the PDS gene in german families with Pendred's syndrome: V138F is a founder mutation."; J. Clin. Endocrinol. Metab. 88:2916-2921(2003).
[21]	VARIANTS DFNB4 ARG-28; LEU-90; ASP-239; PRO-252; TYR-392; PRO-409; MET-410; PHE-455; LYS-457; GLN-676; MET-721 AND ARG-723. DOI=10.1136/jmg.40.4.242; PubMed=12676893 [NCBI, ExPASy, EBI, Israel, Japan] Park H.-J., Shaukat S., Liu X.-Z., Hahn S.H., Naz S., Ghosh M., Kim H.-N., Moon S.-K., Abe S., Tukamoto K., Riazuddin S., Kabra M., Erdenetungalag R., Radnaabazar J., Khan S., Pandya A., Usami S., Nance W.E., Wilcox E.R., Riazuddin S., Griffith A.J.; "Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness."; J. Med. Genet. 40:242-248(2003).
[22]	VARIANTS PDS/DFNB4 GLY-24; GLN-29; CYS-78; VAL-104; CYS-105; ASP-106; PHE-138; ALA-139; VAL-209; PRO-236; HIS-271; LEU-335; GLY-384; HIS-409; MET-410; PRO-416; ARG-421; ALA-429 DEL; TRP-445; ASP-480; HIS-530; CYS-556; TYR-565; SER-597; ALA-653; GLU-672; SER-683 AND ARG-723. DOI=10.1002/ajmg.a.20272; PubMed=14679580 [NCBI, ExPASy, EBI, Israel, Japan] Prasad S., Koelln K.A., Cucci R.A., Trembath R.C., Van Camp G., Smith R.J.H.; "Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations."; Am. J. Med. Genet. A 124:1-9(2004).
[23]	VARIANTS PDS GLN-29; CYS-78; PRO-137; PHE-138; ILE-193; VAL-209; PRO-236; ASN-391; HIS-409; MET-410; PRO-416; TRP-445; HIS-530; ILE-552; SER-597; PRO-694; MET-721 AND ASN-724. DOI=10.1111/j.1399-0004.2004.00296.x; PubMed=15355436 [NCBI, ExPASy, EBI, Israel, Japan] Blons H., Feldmann D., Duval V., Messaz O., Denoyelle F., Loundon N., Sergout-Allaoui A., Houang M., Duriez F., Lacombe D., Delobel B., Leman J., Catros H., Journel H., Drouin-Garraud V., Obstoy M.-F., Toutain A., Oden S., Toublanc J.E., Couderc R., Petit C., Garabedian E.-N., Marlin S.; "Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity."; Clin. Genet. 66:333-340(2004).
[24]	VARIANT PDS PRO-416. DOI=10.1210/jc.2004-1013; PubMed=15531480 [NCBI, ExPASy, EBI, Israel, Japan] Napiontek U., Borck G., Mueller-Forell W., Pfarr N., Bohnert A., Keilmann A., Pohlenz J.; "Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene."; J. Clin. Endocrinol. Metab. 89:5347-5351(2004).
[25]	VARIANTS PDS ARG-514; SER-530; GLY-609 AND CYS-776. DOI=10.1136/jmg.2004.024208; PubMed=15689455 [NCBI, ExPASy, EBI, Israel, Japan] Pryor S.P., Madeo A.C., Reynolds J.C., Sarlis N.J., Arnos K.S., Nance W.E., Yang Y., Zalewski C.K., Brewer C.C., Butman J.A., Griffith A.J.; "SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities."; J. Med. Genet. 42:159-165(2005).
[26]	VARIANT PDS CYS-776, AND CHARACTERIZATION OF VARIANT PDS CYS-776. DOI=10.1210/jc.2006-0142; PubMed=16684826 [NCBI, ExPASy, EBI, Israel, Japan] Pfarr N., Borck G., Turk A., Napiontek U., Keilmann A., Mueller-Forell W., Kopp P., Pohlenz J.; "Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes."; J. Clin. Endocrinol. Metab. 91:2678-2681(2006).

Comments

FUNCTION: Sodium-independent transporter of chloride and iodide.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Probable).
TISSUE SPECIFICITY: High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues.
DISEASE: Defects in SLC26A4 are a cause of Pendred syndrome (PDS) [MIM:274600]. PDS is an autosomal recessive disorder characterized by congenital sensorineural hearing loss combined 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.
DISEASE: Defects in SLC26A4 are the cause of non-syndromic sensorineural deafness autosomal recessive type 4 (DFNB4) [MIM:600791]; also known as vestibular aqueduct syndrome (EVA). DFNB4 is a form of 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.
SIMILARITY: Belongs to the SLC26A/SulP transporter (TC 2.A.53) family [view classification].
SIMILARITY: Contains 1 STAS domain.
WEB RESOURCE: Name=Hereditary hearing loss homepage; Note=Gene page; URL="http://webhost.ua.ac.be/hhh/";.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=SLC26A4";.
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=S&genename=SLC26A4+%40+PDS";.
WEB RESOURCE: Name=Wikipedia; Note=Pendrin entry; URL="http://en.wikipedia.org/wiki/Pendrin";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

AF030880; AAC51873.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AC002467; AAB88773.2; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI00012842; -.

NP_000432.1; -.

3D structure databases

ModBase

O43511.

Organism-specific databases

GeneCards

GC07P107088; -.

H-InvDB

HIX0006991; -.
HIX0033526; -.

HGNC:8818; SLC26A4.

274600; phenotype. [NCBI / EBI]
600791; phenotype. [NCBI / EBI]
605646; gene. [NCBI / EBI]

Orphanet

87884; Nonsyndromic genetic deafness.
705; Pendred syndrome.

PharmGKB

PA35506; -.

Gene expression databases

O43511; -.

O43511; -.

HS_SLC26A4; -.

ENSG00000091137; Homo sapiens.

Ontologies

GO:0016324;	Cellular component: apical plasma membrane (inferred from direct assay from UniProtKB).
GO:0016021;	Cellular component: integral to membrane (traceable author statement from ProtInc).
GO:0031404;	Molecular function: chloride ion binding (inferred from electronic annotation from UniProtKB-KW).
GO:0015108;	Molecular function: chloride transmembrane transporter activity (traceable author statement from ProtInc).
GO:0015111;	Molecular function: iodide transmembrane transporter activity (traceable author statement from ProtInc).
GO:0008271;	Molecular function: secondary active sulfate transmembrane transporter activity (inferred from electronic annotation from InterPro).
GO:0006885;	Biological process: regulation of pH (inferred from sequence or structural similarity from UniProtKB).
GO:0032880;	Biological process: regulation of protein localization (inferred from sequence or structural similarity from UniProtKB).
GO:0007605;	Biological process: sensory perception of sound (traceable author statement from ProtInc).
GO:0008272;	Biological process: sulfate transport (traceable author statement from ProtInc).
QuickGo view.

Family and domain databases

InterPro

IPR018045; S04_transporter_CS.
IPR002645; SO4_transptr/STAS.
IPR001902; SulP_transpt.
IPR011547; Sulph_transpt.
Graphical view of domain structure.

Pfam

PF01740; STAS; 1.
PF00916; Sulfate_transp; 1.
Pfam graphical view of domain structure.

TIGRFAMs

TIGR00815; sulP; 1.

PROSITE

PS01130; SLC26A; 1.
PS50801; STAS; 1.
PROSITE graphical view of domain structure (profiles).

Proteomic databases

PRIDE

O43511; -.

Genome annotation databases

Ensembl

ENSG00000091137; Homo sapiens. [Contig view]

GeneID

5172; -.

KEGG

hsa:5172; -.

Phylogenomic databases

HOGENOM

O43511; -.

HOVERGEN

O43511; -.

OMA

O43511; DAIRVYN.

Other

NextBio

20014; -.

SOURCE

SLC26A4; Homo sapiens.

ProtoNet

O43511.

UniRef

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Chloride; Deafness; Disease mutation; Membrane; Non-syndromic deafness; Polymorphism; Transmembrane; Transport.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 780`	`780`	`Pendrin.`	`PRO_0000080164`
`TOPO_DOM`	`1 109`	`109`	`Cytoplasmic (Potential).`
`TRANSMEM`	`110 130`	`21`	`1 (Potential).`
`TOPO_DOM`	`131 135`	`5`	`Extracellular (Potential).`
`TRANSMEM`	`136 156`	`21`	`2 (Potential).`
`TOPO_DOM`	`157 191`	`35`	`Cytoplasmic (Potential).`
`TRANSMEM`	`192 212`	`21`	`3 (Potential).`
`TOPO_DOM`	`213 263`	`51`	`Extracellular (Potential).`
`TRANSMEM`	`264 284`	`21`	`4 (Potential).`
`TOPO_DOM`	`285 295`	`11`	`Cytoplasmic (Potential).`
`TRANSMEM`	`296 316`	`21`	`5 (Potential).`
`TOPO_DOM`	`317 344`	`28`	`Extracellular (Potential).`
`TRANSMEM`	`345 365`	`21`	`6 (Potential).`
`TOPO_DOM`	`366 384`	`19`	`Cytoplasmic (Potential).`
`TRANSMEM`	`385 405`	`21`	`7 (Potential).`
`TOPO_DOM`	`406 421`	`16`	`Extracellular (Potential).`
`TRANSMEM`	`422 442`	`21`	`8 (Potential).`
`TOPO_DOM`	`443 448`	`6`	`Cytoplasmic (Potential).`
`TRANSMEM`	`449 469`	`21`	`9 (Potential).`
`TOPO_DOM`	`470 486`	`17`	`Extracellular (Potential).`
`TRANSMEM`	`487 507`	`21`	`10 (Potential).`
`TOPO_DOM`	`508 652`	`145`	`Cytoplasmic (Potential).`
`TRANSMEM`	`653 673`	`21`	`11 (Potential).`
`TOPO_DOM`	`674 780`	`107`	`Extracellular (Potential).`
`DOMAIN`	`535 729`	`195`	`STAS.`
`VARIANT`	`24 24`	`1`	`R -> G (in Pendred syndrome/deafness individuals).`	`VAR_021638`
`VARIANT`	`28 28`	`1`	`S -> R (in PDS and DFNB4).`	`VAR_021639`
`VARIANT`	`29 29`	`1`	`E -> Q (in PDS).`	`VAR_021640`
`VARIANT`	`78 78`	`1`	`Y -> C (in PDS).`	`VAR_021641`
`VARIANT`	`90 90`	`1`	`S -> L (in DFNB4).`	`VAR_021642`
`VARIANT`	`102 102`	`1`	`G -> R (in PDS; fails to localize to cell membrane; abolishes iodide transport).`	`VAR_021643`
`VARIANT`	`104 104`	`1`	`A -> V (in Pendred syndrome/deafness individuals).`	`VAR_021644`
`VARIANT`	`105 105`	`1`	`Y -> C (in PDS).`	`VAR_021645`
`VARIANT`	`106 106`	`1`	`A -> D (in PDS).`	`VAR_021646`
`VARIANT`	`117 117`	`1`	`L -> F (in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport).`	`VAR_021647`
`VARIANT`	`123 123`	`1`	`P -> S (in DFNB4).`	`VAR_027238`
`VARIANT`	`132 132`	`1`	`T -> I (in DFNB4).`	`VAR_021648`
`VARIANT`	`133 133`	`1`	`S -> T (in PDS).`	`VAR_021649`
`VARIANT`	`137 137`	`1`	`S -> P (in PDS).`	`VAR_021650`
`VARIANT`	`138 138`	`1`	`V -> F (in PDS; fails to localize to cell membrane; abolishes iodide transport).`	`VAR_021651`
`VARIANT`	`139 139`	`1`	`G -> A (in PDS).`	`VAR_021652`
`VARIANT`	`147 147`	`1`	`M -> V (in DFNB4).`	`VAR_027239`
`VARIANT`	`193 193`	`1`	`T -> I (in PDS).`	`VAR_011623`
`VARIANT`	`209 209`	`1`	`G -> V (in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane).`	`VAR_007440`
`VARIANT`	`236 236`	`1`	`L -> P (in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport).`	`VAR_007441`
`VARIANT`	`239 239`	`1`	`V -> D (in PDS and DFNB4).`	`VAR_021653`
`VARIANT`	`252 252`	`1`	`S -> P (in DFNB4).`	`VAR_021654`
`VARIANT`	`271 271`	`1`	`D -> H (in PDS).`	`VAR_021655`
`VARIANT`	`301 301`	`1`	`P -> L (in dbSNP:rs34373141 [NCBI]).`	`VAR_053663`
`VARIANT`	`324 324`	`1`	`N -> Y (in dbSNP:rs36039758 [NCBI]).`	`VAR_053664`
`VARIANT`	`335 335`	`1`	`F -> L (in PDS).`	`VAR_021656`
`VARIANT`	`369 369`	`1`	`K -> E (in DFNB4).`	`VAR_007442`
`VARIANT`	`372 372`	`1`	`A -> V (in DFNB4).`	`VAR_007443`
`VARIANT`	`384 384`	`1`	`E -> G (in PDS and PDS/DFNB4).`	`VAR_007444`
`VARIANT`	`391 391`	`1`	`S -> N (in PDS).`	`VAR_021657`
`VARIANT`	`392 392`	`1`	`N -> Y (in DFNB4).`	`VAR_021658`
`VARIANT`	`409 409`	`1`	`R -> H (in PDS).`	`VAR_021659`
`VARIANT`	`409 409`	`1`	`R -> P (in DFNB4).`	`VAR_021660`
`VARIANT`	`410 410`	`1`	`T -> M (in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport).`	`VAR_021661`
`VARIANT`	`411 411`	`1`	`A -> P (in PDS).`	`VAR_021662`
`VARIANT`	`416 416`	`1`	`T -> P (in PDS and DFNB4; common mutation).`	`VAR_007445`
`VARIANT`	`421 421`	`1`	`Q -> R (in Pendred syndrome/deafness individuals).`	`VAR_021663`
`VARIANT`	`429 429`	`1`	`Missing (in Pendred syndrome/deafness individuals).`	`VAR_021664`
`VARIANT`	`445 445`	`1`	`L -> W (in PDS and DFNB4).`	`VAR_011624`
`VARIANT`	`446 446`	`1`	`Q -> R (in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport).`	`VAR_021665`
`VARIANT`	`455 455`	`1`	`I -> F (in DFNB4).`	`VAR_021666`
`VARIANT`	`457 457`	`1`	`N -> K (in DFNB4).`	`VAR_021667`
`VARIANT`	`480 480`	`1`	`V -> D (in PDS; retains residual transport function).`	`VAR_021668`
`VARIANT`	`490 490`	`1`	`I -> L (in DFNB4).`	`VAR_021669`
`VARIANT`	`497 497`	`1`	`G -> S (in DFNB4).`	`VAR_007446`
`VARIANT`	`508 508`	`1`	`T -> N (in PDS).`	`VAR_027240`
`VARIANT`	`514 514`	`1`	`Q -> R (in PDS).`	`VAR_027241`
`VARIANT`	`530 530`	`1`	`Y -> H (in PDS).`	`VAR_021670`
`VARIANT`	`530 530`	`1`	`Y -> S (in PDS).`	`VAR_027242`
`VARIANT`	`552 552`	`1`	`S -> I (in PDS).`	`VAR_021671`
`VARIANT`	`556 556`	`1`	`Y -> C (in PDS; partially affects protein localization to cell membrane; abolishes iodide transport).`	`VAR_021672`
`VARIANT`	`556 556`	`1`	`Y -> H (in PDS).`	`VAR_021673`
`VARIANT`	`565 565`	`1`	`C -> Y (in PDS).`	`VAR_021674`
`VARIANT`	`597 597`	`1`	`L -> S (in PDS; common mutation).`	`VAR_021675`
`VARIANT`	`609 609`	`1`	`V -> G (in PDS; could be a polymorphism; dbSNP:rs17154335 [NCBI]).`	`VAR_027243`
`VARIANT`	`653 653`	`1`	`V -> A (in PDS; retains residual transport function).`	`VAR_021676`
`VARIANT`	`666 666`	`1`	`S -> F (in DFNB4).`	`VAR_027244`
`VARIANT`	`667 667`	`1`	`F -> C (in PDS).`	`VAR_007447`
`VARIANT`	`672 672`	`1`	`G -> E (in PDS; partially affects protein localization to cell membrane; abolishes iodide transport).`	`VAR_021677`
`VARIANT`	`676 676`	`1`	`L -> Q (in DFNB4).`	`VAR_021678`
`VARIANT`	`683 683`	`1`	`F -> S (in Pendred syndrome/deafness individuals).`	`VAR_021679`
`VARIANT`	`687 687`	`1`	`D -> Y (in dbSNP:rs35548413 [NCBI]).`	`VAR_053665`
`VARIANT`	`694 694`	`1`	`S -> P (in PDS).`	`VAR_021680`
`VARIANT`	`721 721`	`1`	`T -> M (in DFNB4 and PDS).`	`VAR_007448`
`VARIANT`	`723 723`	`1`	`H -> R (in DFNB4 and PDS; common mutation in Korea and Japan).`	`VAR_007449`
`VARIANT`	`724 724`	`1`	`D -> N (in PDS).`	`VAR_021681`
`VARIANT`	`740 740`	`1`	`G -> S (in dbSNP:rs17154353 [NCBI]).`	`VAR_027245`
`VARIANT`	`776 776`	`1`	`R -> C (in PDS; retains its ability to transport iodide in vitro).`	`VAR_027246`

Sequence information

Length: 780 AA [This is the length of the unprocessed precursor]

Molecular weight: 85723 Da [This is the MW of the unprocessed precursor]

CRC64: 3AEF5D720B155CE0 [This is a checksum on the sequence]

        10         20         30         40         50         60 
MAAPGGRSEP PQLPEYSCSY MVSRPVYSEL AFQQQHERRL QERKTLRESL AKCCSCSRKR 

        70         80         90        100        110        120 
AFGVLKTLVP ILEWLPKYRV KEWLLSDVIS GVSTGLVATL QGMAYALLAA VPVGYGLYSA 

       130        140        150        160        170        180 
FFPILTYFIF GTSRHISVGP FPVVSLMVGS VVLSMAPDEH FLVSSSNGTV LNTTMIDTAA 

       190        200        210        220        230        240 
RDTARVLIAS ALTLLVGIIQ LIFGGLQIGF IVRYLADPLV GGFTTAAAFQ VLVSQLKIVL 

       250        260        270        280        290        300 
NVSTKNYNGV LSIIYTLVEI FQNIGDTNLA DFTAGLLTIV VCMAVKELND RFRHKIPVPI 

       310        320        330        340        350        360 
PIEVIVTIIA TAISYGANLE KNYNAGIVKS IPRGFLPPEL PPVSLFSEML AASFSIAVVA 

       370        380        390        400        410        420 
YAIAVSVGKV YATKYDYTID GNQEFIAFGI SNIFSGFFSC FVATTALSRT AVQESTGGKT 

       430        440        450        460        470        480 
QVAGIISAAI VMIAILALGK LLEPLQKSVL AAVVIANLKG MFMQLCDIPR LWRQNKIDAV 

       490        500        510        520        530        540 
IWVFTCIVSI ILGLDLGLLA GLIFGLLTVV LRVQFPSWNG LGSIPSTDIY KSTKNYKNIE 

       550        560        570        580        590        600 
EPQGVKILRF SSPIFYGNVD GFKKCIKSTV GFDAIRVYNK RLKALRKIQK LIKSGQLRAT 

       610        620        630        640        650        660 
KNGIISDAVS TNNAFEPDED IEDLEELDIP TKEIEIQVDW NSELPVKVNV PKVPIHSLVL 

       670        680        690        700        710        720 
DCGAISFLDV VGVRSLRVIV KEFQRIDVNV YFASLQDYVI EKLEQCGFFD DNIRKDTFFL 

       730        740        750        760        770        780 
TVHDAILYLQ NQVKSQEGQG SILETITLIQ DCKDTLELIE TELTEEELDV QDEAMRTLAS

O43511 in FASTA format

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	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools