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 15-DEC-1998 (Rel. 37, Last annotation update) DE DRA PROTEIN (DOWN-REGULATED IN ADENOMA). GN 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 RT colon adenomas and adenocarcinomas."; RL Proc. Natl. Acad. Sci. U.S.A. 90:4166-4170(1993). RN [2] RP SIMILARITY TO SULFATE PERMEASES. RX MEDLINE=94188926; PubMed=8140616; 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 [3] 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 [4] 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). CC -!- FUNCTION: POSSIBLE SULFATE TRANSPORTER. CC -!- SUBCELLULAR LOCATION: INTEGRAL MEMBRANE PROTEIN (POTENTIAL). CC -!- DEVELOPMENTAL STAGE: EXPRESSION IS SIGNIFICANTLY DECREASED IN CC ADENOMAS (POLYPS) AND ADENOCARCINOMAS OF THE COLON. CC -!- DISEASE: DEFECTS IN DRA ARE THE CAUSE OF CONGENITAL CHLORIDE CC DIARRHEA (CLD), A DISEASE CHARACTERIZED BY VOLUMINOUS WATERY CC STOOLS CONTAINING AN EXCESS OF CHLORIDE. THE CHILDREN WITH THIS CC DISEASE ARE OFTEN PREMATURE. CC -!- SIMILARITY: BELONGS TO THE SULFATE PERMEASE FAMILY. 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 MIM; 126650; -. DR MIM; 214700; -. DR InterPro; IPR001902; -. DR Pfam; PF00916; Sulfate_transp; 1. DR PROSITE; PS01130; SULFATE_TRANSP; 1. KW Transport; Transmembrane; Disease mutation; Polymorphism. 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 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 307 307 C -> W (PROBABLE POLYMORPHISM). FT /FTId=VAR_007431. FT VARIANT 317 317 MISSING (IN CLD). FT /FTId=VAR_007432. 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 //