Showing Protein Pendrin (HMDBP03024)

• 8549

1. Sodium-independent chloride/iodide transporter
2. Solute carrier family 26 member 4

1. Membrane
2. Multi-pass membrane protein (Probable)

>2343 bp
ATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTCCCCGAGTACAGCTGCAGCTAC
ATGGTGTCGCGGCCGGTCTACAGCGAGCTCGCTTTCCAGCAACAGCACGAGCGGCGCCTG
CAGGAGCGCAAGACGCTGCGGGAGAGCCTGGCCAAGTGCTGCAGTTGTTCAAGAAAGAGA
GCCTTTGGTGTGCTAAAGACTCTTGTGCCCATCTTGGAGTGGCTCCCCAAATACCGAGTC
AAGGAATGGCTGCTTAGTGACGTCATTTCGGGAGTTAGTACTGGGCTAGTGGCCACGCTG
CAAGGGATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCT
TTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGACCT
TTTCCAGTGGTGAGTTTAATGGTGGGATCTGTTGTTCTGAGCATGGCCCCCGACGAACAC
TTTCTCGTATCCAGCAGCAATGGAACTGTATTAAATACTACTATGATAGACACTGCAGCT
AGAGATACAGCTAGAGTCCTGATTGCCAGTGCCCTGACTCTGCTGGTTGGAATTATACAG
TTGATATTTGGTGGCTTGCAGATTGGATTCATAGTGAGGTACTTGGCAGATCCTTTGGTT
GGTGGCTTCACAACAGCTGCTGCCTTCCAAGTGCTGGTCTCACAGCTAAAGATTGTCCTC
AATGTTTCAACCAAAAACTACAATGGAGTTCTCTCTATTATCTATACGCTGGTTGAGATT
TTTCAAAATATTGGTGATACCAATCTTGCTGATTTCACTGCTGGATTGCTCACCATTGTC
GTCTGTATGGCAGTTAAGGAATTAAATGATCGGTTTAGACACAAAATCCCAGTCCCTATT
CCTATAGAAGTAATTGTGACGATAATTGCTACTGCCATTTCATATGGAGCCAACCTGGAA
AAAAATTACAATGCTGGCATTGTTAAATCCATCCCAAGGGGGTTTTTGCCTCCTGAACTT
CCACCTGTGAGCTTGTTCTCGGAGATGCTGGCTGCATCATTTTCCATCGCTGTGGTGGCT
TATGCTATTGCAGTGTCAGTAGGAAAAGTATATGCCACCAAGTATGATTACACCATCGAT
GGGAACCAGGAATTCATTGCCTTTGGGATCAGCAACATCTTCTCAGGATTCTTCTCTTGT
TTTGTGGCCACCACTGCTCTTTCCCGCACGGCCGTCCAGGAGAGCACTGGAGGAAAGACA
CAGGTTGCTGGCATCATCTCTGCTGCGATTGTGATGATCGCCATTCTTGCCCTGGGGAAG
CTTCTGGAACCCTTGCAGAAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGG
ATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTT
ATCTGGGTGTTTACGTGTATAGTGTCCATCATTCTGGGGCTGGATCTCGGTTTACTAGCT
GGCCTTATATTTGGACTGTTGACTGTGGTCCTGAGAGTTCAGTTTCCTTCTTGGAATGGC
CTTGGAAGCATCCCTAGCACAGATATCTACAAAAGTACCAAGAATTACAAAAACATTGAA
GAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGAT
GGTTTTAAAAAATGTATCAAGTCCACAGTTGGATTTGATGCCATTAGAGTATATAATAAG
AGGCTGAAAGCGCTGAGGAAAATACAGAAACTAATAAAAAGTGGACAATTAAGAGCAACA
AAGAATGGCATCATAAGTGATGCTGTTTCAACAAATAATGCTTTTGAGCCTGATGAGGAT
ATTGAAGATCTGGAGGAACTTGATATCCCAACCAAGGAAATAGAGATTCAAGTGGATTGG
AACTCTGAGCTTCCAGTCAAAGTGAACGTTCCCAAAGTGCCAATCCATAGCCTTGTGCTT
GACTGTGGAGCTATATCTTTCCTGGACGTTGTTGGAGTGAGATCACTGCGGGTGATTGTC
AAAGAATTCCAAAGAATTGATGTGAATGTGTATTTTGCATCACTTCAAGATTATGTGATA
GAAAAGCTGGAGCAATGCGGGTTCTTTGACGACAACATTAGAAAGGACACATTCTTTTTG
ACGGTCCATGATGCTATACTCTATCTACAGAACCAAGTGAAATCTCAAGAGGGTCAAGGT
TCCATTTTAGAAACGATCACTCTCATTCAGGATTGTAAAGATACCCTTGAATTAATAGAA
ACAGAGCTGACGGAAGAAGAACTTGATGTCCAGGATGAGGCTATGCGTACACTTGCATCC
TGA

• STAS (PF01740 )
• Sulfate_transp (PF00916 )

• None

• 110-130
• 136-156
• 192-212
• 264-284
• 296-316
• 345-365
• 385-405
• 422-442
• 449-469
• 487-507
• 653-673

>Pendrin
MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKR
AFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSA
FFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEHFLVSSSNGTVLNTTMIDTAA
RDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAFQVLVSQLKIVL
NVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIVVCMAVKELNDRFRHKIPVPI
PIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEMLAASFSIAVVA
YAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKT
QVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAV
IWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIE
EPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRAT
KNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVL
DCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFL
TVHDAILYLQNQVKSQEGQGSILETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS

1. Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, 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 CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, 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 WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK: The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. [PubMed:12853948 ]
2. Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Muller-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. 2006 Jul;91(7):2678-81. Epub 2006 May 9. [PubMed:16684826 ]
3. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997 Dec;17(4):411-22. [PubMed:9398842 ]
4. Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP: The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet. 1999 Apr;21(4):440-3. [PubMed:10192399 ]
5. Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G: Two frequent missense mutations in Pendred syndrome. Hum Mol Genet. 1998 Jul;7(7):1099-104. [PubMed:9618166 ]
6. Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman4 A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC: Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet. 1998 Jul;7(7):1105-12. [PubMed:9618167 ]
7. Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER: A mutation in PDS causes non-syndromic recessive deafness. Nat Genet. 1998 Mar;18(3):215-7. [PubMed:9500541 ]
8. Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ: Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet. 1999 Feb;104(2):188-92. [PubMed:10190331 ]
9. Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H: Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. Am J Med Genet. 2000 Jan 3;90(1):38-44. [PubMed:10602116 ]
10. 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). 2000 Mar;52(3):279-85. [PubMed:10718825 ]
11. 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. 2000 Jun;8(6):437-42. [PubMed:10878664 ]
12. Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD: Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. QJM. 2000 Feb;93(2):99-104. [PubMed:10700480 ]
13. Gonzalez Trevino O, Karamanoglu Arseven O, Ceballos CJ, Vives VI, Ramirez RC, Gomez VV, Medeiros-Neto G, Kopp P: Clinical and molecular analysis of three Mexican families with Pendred's syndrome. Eur J Endocrinol. 2001 Jun;144(6):585-93. [PubMed:11375792 ]
14. Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat. 2001 May;17(5):403-11. [PubMed:11317356 ]
15. Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Hum Mutat. 2001 Dec;18(6):548. [PubMed:11748854 ]
16. Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X: Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Hum Mutat. 2002 Jul;20(1):77-8. [PubMed:12112665 ]
17. Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC: 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. 2002 Apr;87(4):1778-84. [PubMed:11932316 ]
18. 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. 2002 Apr;51(4):479-84. [PubMed:11919333 ]
19. Tekin M, Akcayoz 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. 2003 Oct;64(4):371-4. [PubMed:12974744 ]
20. 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. 2003 Dec;11(12):916-22. [PubMed:14508505 ]
21. 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. 2003 Jun;88(6):2916-21. [PubMed:12788906 ]
22. Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet. 2003 Apr;40(4):242-8. [PubMed:12676893 ]
23. Prasad S, Kolln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJ: 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. 2004 Jan 1;124A(1):1-9. [PubMed:14679580 ]
24. 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 MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabedian EN, Marlin S: Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet. 2004 Oct;66(4):333-40. [PubMed:15355436 ]
25. Napiontek U, Borck G, Muller-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. 2004 Nov;89(11):5347-51. [PubMed:15531480 ]
26. Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ: 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. 2005 Feb;42(2):159-65. [PubMed:15689455 ]
27. Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ: Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat. 2009 Apr;30(4):599-608. doi: 10.1002/humu.20884. [PubMed:19204907 ]