ID DRA_HUMAN STANDARD; PRT; 764 AA. AC P40879; DT 01-FEB-1995 (Rel. 31, Created) DT 01-FEB-1995 (Rel. 31, Last sequence update) DT 05-JUL-2004 (Rel. 44, Last annotation update) DE Chloride anion exchanger (DRA protein) (Down-regulated in adenoma). GN Name=SLC26A3; Synonyms=DRA; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A. RC TISSUE=Colon; RX MEDLINE=93248250; PubMed=7683425; RA Schweinfest C.W., Henderson K.W., Suster S., Kondoh N., Papas T.S.; RT "Identification of a colon mucosa gene that is down-regulated in colon RT adenomas and adenocarcinomas."; RL Proc. Natl. Acad. Sci. U.S.A. 90:4166-4170(1993). RN [2] RP SEQUENCE FROM N.A. RC TISSUE=Lung; RX MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899; RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G., RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D., RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K., RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F., RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L., RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E., RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C., RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J., RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H., RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W., RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A., RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A., RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G., RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C., RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E., RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.; RT "Generation and initial analysis of more than 15,000 full-length human RT and mouse cDNA sequences."; RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002). RN [3] RP SIMILARITY TO SULFATE PERMEASES. RX MEDLINE=94188926; PubMed=8140616; DOI=10.1016/0968-0004(94)90168-6; RA Sandal N.N., Marcker K.A.; RT "Similarities between a soybean nodulin, Neurospora crassa sulphate RT permease II and a putative human tumour suppressor."; RL Trends Biochem. Sci. 19:19-19(1994). RN [4] RP VARIANTS CLD LEU-124 AND VAL-317 DEL, AND VARIANT TRP-307. RX MEDLINE=97051927; PubMed=8896562; RA Hoeglund P., Haila S., Socha J., Tomaszewski L., Saarialho-Kere U., RA Karjalainen-Lindsberg M.-L., Airola K., Holmberg C., RA de la Chapelle A., Kere J.; RT "Mutations of the Down-regulated in adenoma (DRA) gene cause RT congenital chloride diarrhoea."; RL Nat. Genet. 14:316-319(1996). RN [5] RP VARIANTS CLD SER-120; ARG-131; VAL-317 DEL AND TYR-527 DEL. RX MEDLINE=98213471; PubMed=9554749; RA Hoeglund P., Haila S., Gustavson K.-H., Taipale M., Hannula K., RA Popinska K., Holmberg C., Socha J., de la Chapelle A., Kere J.; RT "Clustering of private mutations in the congenital chloride RT diarrhea/down-regulated in adenoma gene."; RL Hum. Mutat. 11:321-327(1998). RN [6] RP VARIANTS CLD PRO-206 AND VAL-468. RX MEDLINE=21415581; PubMed=11524734; DOI=10.1002/humu.1179; RA Hoeglund P., Sormaala M., Haila S., Socha J., Rajaram U., RA Scheurlen W., Sinaasappel M., de Jonge H., Holmberg C., Yoshikawa H., RA Kere J.; RT "Identification of seven novel mutations including the first two RT genomic rearrangements in SLC26A3 mutated in congenital chloride RT diarrhea."; RL Hum. Mutat. 18:233-242(2001). CC -!- FUNCTION: Chloride/bicarbonate exchanger. Involved in absorbtion CC of in the colon. Helps mediate electrolyte and fluid absorption. CC -!- SUBCELLULAR LOCATION: Integral membrane protein (Probable). CC -!- DEVELOPMENTAL STAGE: Expression is significantly decreased in CC adenomas (polyps) and adenocarcinomas of the colon. CC -!- DISEASE: Defects in SLC26A3 are the cause of congenital chloride CC diarrhea (CLD) [MIM:214700]. CLD is a disease characterized by CC voluminous watery stools containing an excess of chloride. The CC children with this disease are often premature. CC -!- SIMILARITY: Belongs to the SLC26A/SulP transporter (TC 2.A.53) CC family. CC -!- SIMILARITY: Contains 1 STAS domain. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; L02785; AAA58443.1; -. DR EMBL; BC025671; AAH25671.1; -. DR PIR; A47456; A47456. DR Genew; HGNC:3018; SLC26A3. DR MIM; 126650; -. DR MIM; 214700; -. DR GO; GO:0005624; C:membrane fraction; TAS. DR GO; GO:0003712; F:transcription cofactor activity; TAS. DR GO; GO:0003700; F:transcription factor activity; TAS. DR GO; GO:0005215; F:transporter activity; TAS. DR GO; GO:0006820; P:anion transport; TAS. DR GO; GO:0007588; P:excretion; TAS. DR InterPro; IPR002645; STAS. DR InterPro; IPR001902; Sulph_transpt. DR Pfam; PF01740; STAS; 1. DR Pfam; PF00916; Sulfate_transp; 1. DR TIGRFAMs; TIGR00815; sulP; 1. DR PROSITE; PS01130; SLC26A; 1. DR PROSITE; PS50801; STAS; 1. KW Antiport; Chloride; Disease mutation; Polymorphism; Transmembrane; KW Transport. FT TRANSMEM 77 97 Potential. FT TRANSMEM 100 120 Potential. FT TRANSMEM 125 145 Potential. FT TRANSMEM 176 196 Potential. FT TRANSMEM 198 218 Potential. FT TRANSMEM 259 279 Potential. FT TRANSMEM 286 306 Potential. FT TRANSMEM 343 363 Potential. FT TRANSMEM 375 395 Potential. FT TRANSMEM 412 432 Potential. FT TRANSMEM 439 459 Potential. FT TRANSMEM 470 490 Potential. FT TRANSMEM 644 664 Potential. FT TRANSMEM 702 722 Potential. FT DOMAIN 525 720 STAS. FT VARIANT 120 120 G -> S (in CLD). FT /FTId=VAR_007428. FT VARIANT 124 124 H -> L (in CLD). FT /FTId=VAR_007429. FT VARIANT 131 131 P -> R (in CLD). FT /FTId=VAR_007430. FT VARIANT 206 206 S -> P (in CLD). FT /FTId=VAR_012777. FT VARIANT 307 307 C -> W (probable polymorphism). FT /FTId=VAR_007431. FT VARIANT 317 317 Missing (in CLD). FT /FTId=VAR_007432. FT VARIANT 468 468 D -> V (in CLD). FT /FTId=VAR_012778. FT VARIANT 527 527 Missing (in CLD). FT /FTId=VAR_007433. SQ SEQUENCE 764 AA; 84504 MW; 694C5BC2D4121F6D CRC64; MIEPFGNQYI VARPVYSTNA FEENHKKTGR HHKTFLDHLK VCCSCSPQKA KRIVLSLFPI ASWLPAYRLK EWLLSDIVSG ISTGIVAVLQ GLAFALLVDI PPVYGLYASF FPAIIYLFFG TSRHISVGPF PILSMMVGLA VSGAVSKAVP DRNATTLGLP NNSNNSSLLD DERVRVAAAA SVTVLSGIIQ LAFGILRIGF VVIYLSESLI SGFTTAAAVH VLVSQLKFIF QLTVPSHTDP VSIFKVLYSV FSQIEKTNIA DLVTALIVLL VVSIVKEINQ RFKDKLPVPI PIEFIMTVIA AGVSYGCDFK NRFKVAVVGD MNPGFQPPIT PDVETFQNTV GDCFGIAMVA FAVAFSVASV YSLKYDYPLD GNQELIALGL GNIVCGVFRG FAGSTALSRS AVQESTGGKT QIAGLIGAII VLIVVLAIGF LLAPLQKSVL AALALGNLKG MLMQFAEIGR LWRKDKYDCL IWIMTFIFTI VLGLGLGLAA SVAFQLLTIV FRTQFPKCST LANIGRTNIY KNKKDYYDMY EPEGVKIFRC PSPIYFANIG FFRRKLIDAV GFSPLRILRK RNKALRKIRK LQKQGLLQVT PKGFICTVDT IKDSDEELDN NQIEVLDQPI NTTDLPFHID WNDDLPLNIE VPKISLHSLI LDFSAVSFLD VSSVRGLKSI LQEFIRIKVD VYIVGTDDDF IEKLNRYEFF DGEVKSSIFF LTIHDAVLHI LMKKDYSTSK FNPSQEKDGK IDFTINTNGG LRNRVYEVPV ETKF //