ID PREB_HUMAN STANDARD; PRT; 417 AA. AC Q9HCU5; Q9UH94; DT 28-FEB-2003 (Rel. 41, Created) DT 01-FEB-2005 (Rel. 46, Last sequence update) DT 24-JAN-2006 (Rel. 49, Last annotation update) DE Prolactin regulatory element-binding protein (Mammalian guanine DE nucleotide exchange factor mSec12). GN Name=PREB; Synonyms=SEC12; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE, AND TISSUE SPECIFICITY. RX MEDLINE=20380828; PubMed=10920239; DOI=10.1007/s003350010142; RA Taylor Clelland C.L., Levy B., McKie J.M., Duncan A.M.V., RA Hirschhorn K., Bancroft C.; RT "Cloning and characterization of human PREB; a gene that maps to a RT genomic region associated with trisomy 2p syndrome."; RL Mamm. Genome 11:675-681(2000). RN [2] RP NUCLEOTIDE SEQUENCE. RA Edgar A.J., Polak J.M.; RT "The human and mouse homologues of rat prolactin regulatory element RT binding protein."; RL Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE, AND TISSUE SPECIFICITY. RX MEDLINE=22730768; PubMed=12735795; DOI=10.1186/1471-2164-4-18; RA Edgar A.J.; RT "The gene structure and expression of human ABHD1: overlapping RT polyadenylation signal sequence with Sec12."; RL BMC Genomics 4:18-18(2003). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Brain, Lung, and Uterus; 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). CC -!- FUNCTION: Was first identified based on its probable role in the CC regulation of pituitary gene transcription. Binds to the prolactin CC gene (PRL) promoter and seems to activate transcription (By CC similarity). Guanine nucleotide exchange factor that activates CC SARA2. Required for the formation of COPII transport vesicles from CC the ER. CC -!- SUBUNIT: Binds SARA2. CC -!- SUBCELLULAR LOCATION: Nuclear. Type II membrane protein, CC endoplasmic reticulum (By similarity). CC -!- TISSUE SPECIFICITY: Ubiquitous. CC -!- SIMILARITY: Contains 3 WD repeats. 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; AF226684; AAG01692.1; -; mRNA. DR EMBL; AF203687; AAF19192.1; -; mRNA. DR EMBL; AF227166; AAF74572.1; -; Genomic_DNA. DR EMBL; AK023064; BAB14385.1; -; mRNA. DR EMBL; BC002765; AAH02765.1; -; mRNA. DR EMBL; BC012890; AAH12890.1; -; mRNA. DR EMBL; BC016472; AAH16472.1; -; mRNA. DR EMBL; BC041032; AAH41032.1; -; mRNA. DR TRANSFAC; T05048; -. DR Ensembl; ENSG00000138073; Homo sapiens. DR HGNC; HGNC:9356; PREB. DR H-InvDB; HIX0001910; -. DR MIM; 606395; -. DR GO; GO:0005634; C:nucleus; TAS. DR GO; GO:0006355; P:regulation of transcription, DNA-dependent; TAS. DR InterPro; IPR000008; C2. DR InterPro; IPR001680; WD40. DR Pfam; PF00400; WD40; 2. DR PRINTS; PR00360; C2DOMAIN. DR SMART; SM00320; WD40; 2. DR PROSITE; PS00678; WD_REPEATS_1; FALSE_NEG. DR PROSITE; PS50082; WD_REPEATS_2; 1. DR PROSITE; PS50294; WD_REPEATS_REGION; 1. KW Activator; DNA-binding; Endoplasmic reticulum; ER-Golgi transport; KW Membrane; Nuclear protein; Protein transport; Repeat; Signal-anchor; KW Transcription; Transcription regulation; Transmembrane; Transport; KW WD repeat. FT TOPO_DOM 1 388 Cytoplasmic (Potential). FT TRANSMEM 389 409 Signal-anchor for type II membrane FT protein. FT TOPO_DOM 410 417 Lumenal (Potential). FT REPEAT 152 191 WD 1. FT REPEAT 194 232 WD 2. FT REPEAT 298 337 WD 3. FT CONFLICT 19 19 L -> F (in Ref. 1). SQ SEQUENCE 417 AA; 45468 MW; 7FD490A641202D19 CRC64; MGRRRAPELY RAPFPLYALQ VDPSTGLLIA AGGGGAAKTG IKNGVHFLQL ELINGRLSAS LLHSHDTETR ATMNLALAGD ILAAGQDAHC QLLRFQAHQQ QGNKAEKAGS KEQGPRQRKG AAPAEKKCGA ETQHEGLELR VENLQAVQTD FSSDPLQKVV CFNHDNTLLA TGGTDGYVRV WKVPSLEKVL EFKAHEGEIE DLALGPDGKL VTVGRDLKAS VWQKDQLVTQ LHWQENGPTF SSTPYRYQAC RFGQVPDQPA GLRLFTVQIP HKRLRQPPPC YLTAWDGSNF LPLRTKSCGH EVVSCLDVSE SGTFLGLGTV TGSVAIYIAF SLQCLYYVRE AHGIVVTDVA FLPEKGRGPE LLGSHETALF SVAVDSRCQL HLLPSRRSVP VWLLLLLCVG LIIVTILLLQ SAFPGFL //