HuLPr45076

Uniprot ID

S26A4_HUMAN

Uniprot Acc

O43511;O43170;

Protein name

Pendrin

Comment

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 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 infor

Subcellular localization

Membrane;Multi-pass membrane protein(Probable).

Gene name

solute carrier family 26, member 4

Protein sequence

MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRL QERKTLRESLAKCCSCSRKRAFGVLKTLVPILEWLPKYR VKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLY SAFFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAP DEHFLVSSSNGTVLNTTMIDTAARDTARVLIASALTLLV GIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAFQVLVSQ LKIVLNVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTA GLLTIVVCMAVKELNDRFRHKIPVPIPIEVIVTIIATAI SYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEMLAA SFSIAVVAYAIAVSVGKVYATKYDYTIDGNQEFIAFGIS NIFSGFFSCFVATTALSRTAVQESTGGKTQVAGIISAAI VMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIP RLWRQNKIDAVIWVFTCIVSIILGLDLGLLAGLIFGLLT VVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIEEPQGVKI LRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALR KIQKLIKSGQLRATKNGIISDAVSTNNAFEPDEDIEDLE ELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVLDCGA ISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVIEKL EQCGFFDDNIRKDTFFLTVHDAILYLQNQVKSQEGQGSI LETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS

Database cross reference

RefSeq Protein accession:NP_000432
RefSeq Protein gi:4505697

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;Human Liver Organelles;

GO:0016324;C:apical plasma membrane;IDA:UniProtKB. GO:0016021;C:integral to membrane;TAS:ProtInc.

GO-F

GO:0015108;F:chloride transmembrane transporter activity;TAS:ProtInc. GO:0005452;F:inorganic anion exchanger activity;TAS:Reactome. GO:0015111;F:iodide transmembrane transporter activity;TAS:ProtInc. GO:0008271;F:secondary active sulfate transmembrane t

GO-P

GO:0006885;P:regulation of pH;ISS:UniProtKB. GO:0032880;P:regulation of protein localization;ISS:UniProtKB. GO:0007605;P:sensory perception of sound;TAS:ProtInc.

TSH