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Accession Number: | O43511 |
Protein Name: | Pendrin |
Length: | 780 |
Molecular Weight: | 85723.00 |
Species: | Homo sapiens (Human) [9606] |
Number of TMSs: | 13 |
Location1 / Topology2 / Orientation3: | Membrane1 / Multi-pass membrane protein2 |
Substrate | anion, chloride, iodide, hydrogencarbonate, cyanate, base, oxalate(2-), thiocyanate |
Cross database links:
Entrez Gene ID: | 5172 |
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Pfam: | PF01740 PF00916 |
KEGG: | hsa:5172 |
Gene Ontology
GO:0016324
C:apical plasma membrane
GO:0016021
C:integral to membrane
GO:0015108
F:chloride transmembrane transporter activity
GO:0015111
F:iodide transmembrane transporter activity
GO:0008271
F:secondary active sulfate transmembrane transporter activity
GO:0015116
F:sulfate transmembrane transporter activity
GO:0006885
P:regulation of pH
GO:0032880
P:regulation of protein localization
GO:0007605
P:sensory perception of sound
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References (30)[1] “Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).” Everett L.A.et.al. 9398842 [2] “The DNA sequence of human chromosome 7.” Hillier L.W.et.al. 12853948 [3] “The Pendred syndrome gene encodes a chloride-iodide transport protein.” Scott D.A.et.al. 10192399 [4] “Two frequent missense mutations in Pendred syndrome.” van Hauwe P.et.al. 9618166 [5] “Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre).” Coyle B.et.al. 9618167 [6] “A mutation in PDS causes non-syndromic recessive deafness.” Li X.C.et.al. 9500541 [7] “Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.” Usami S.et.al. 10190331 [8] “Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.” Masmoudi S.et.al. 10602116 [9] “A novel mutation in the pendrin gene associated with Pendred's syndrome.” Bogazzi F.et.al. 10718825 [10] “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.” Adato A.et.al. 10878664 [11] “Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene.” Reardon W.et.al. 10700480 [12] “Clinical and molecular analysis of three Mexican families with Pendred's syndrome.” Gonzalez Trevino O.et.al. 11375792 [13] “Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.” Campbell C.et.al. 11317356 [14] “Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.” Lopez-Bigas N.et.al. 11748854 [15] “” Lopez-Bigas N.et.al. 12112665 [16] “Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.” Taylor J.P.et.al. 11932316 [17] “Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.” Fugazzola L.et.al. 11919333 [18] “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.” Tekin M.et.al. 12974744 [19] “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.” Tsukamoto K.et.al. 14508505 [20] “Mutations in the PDS gene in german families with Pendred's syndrome: V138F is a founder mutation.” Borck G.et.al. 12788906 [21] “Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.” Park H.-J.et.al. 12676893 [22] “Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.” Prasad S.et.al. 14679580 [23] “Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.” Blons H.et.al. 15355436 [24] “Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.” Napiontek U.et.al. 15531480 [25] “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.” Pryor S.P.et.al. 15689455 [26] “Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.” Pfarr N.et.al. 16684826 [27] “Temporal bone imaging in GJB2 deafness.” Propst E.J.et.al. 17146393 [28] “Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?” Choi B.Y.et.al. 19204907 [29] “Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA).” Pourova R.et.al. 20597900 [30] “Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive.” Alasti F.et.al. 20108392
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External Searches:
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Analyze:
Predict TMSs (Predict number of transmembrane segments) | ||||
FASTA formatted sequence |
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1: MAAPGGRSEP PQLPEYSCSY MVSRPVYSEL AFQQQHERRL QERKTLRESL AKCCSCSRKR 61: AFGVLKTLVP ILEWLPKYRV KEWLLSDVIS GVSTGLVATL QGMAYALLAA VPVGYGLYSA 121: FFPILTYFIF GTSRHISVGP FPVVSLMVGS VVLSMAPDEH FLVSSSNGTV LNTTMIDTAA 181: RDTARVLIAS ALTLLVGIIQ LIFGGLQIGF IVRYLADPLV GGFTTAAAFQ VLVSQLKIVL 241: NVSTKNYNGV LSIIYTLVEI FQNIGDTNLA DFTAGLLTIV VCMAVKELND RFRHKIPVPI 301: PIEVIVTIIA TAISYGANLE KNYNAGIVKS IPRGFLPPEL PPVSLFSEML AASFSIAVVA 361: YAIAVSVGKV YATKYDYTID GNQEFIAFGI SNIFSGFFSC FVATTALSRT AVQESTGGKT 421: QVAGIISAAI VMIAILALGK LLEPLQKSVL AAVVIANLKG MFMQLCDIPR LWRQNKIDAV 481: IWVFTCIVSI ILGLDLGLLA GLIFGLLTVV LRVQFPSWNG LGSIPSTDIY KSTKNYKNIE 541: EPQGVKILRF SSPIFYGNVD GFKKCIKSTV GFDAIRVYNK RLKALRKIQK LIKSGQLRAT 601: KNGIISDAVS TNNAFEPDED IEDLEELDIP TKEIEIQVDW NSELPVKVNV PKVPIHSLVL 661: DCGAISFLDV VGVRSLRVIV KEFQRIDVNV YFASLQDYVI EKLEQCGFFD DNIRKDTFFL 721: TVHDAILYLQ NQVKSQEGQG SILETITLIQ DCKDTLELIE TELTEEELDV QDEAMRTLAS