ID KLF11_HUMAN Reviewed; 512 AA. AC O14901; Q9EPF4; DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1998, sequence version 2. DT 14-DEC-2011, entry version 115. DE RecName: Full=Krueppel-like factor 11; DE AltName: Full=Transforming growth factor-beta-inducible early growth response protein 2; DE Short=TGFB-inducible early growth response protein 2; DE Short=TIEG-2; GN Name=KLF11; Synonyms=FKLF, TIEG2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA], AND CHARACTERIZATION. RC TISSUE=Pancreas; RX MEDLINE=98421516; PubMed=9748269; DOI=10.1074/jbc.273.40.25929; RA Cook T., Gebelein B., Mesa K., Mladek A., Urrutia R.; RT "Molecular cloning and characterization of TIEG2 reveals a new RT subfamily of transforming growth factor-beta-inducible Sp1-like zinc RT finger-encoding genes involved in the regulation of cell growth."; RL J. Biol. Chem. 273:25929-25936(1998). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, AND TISSUE SPECIFICITY. RC TISSUE=Erythroid cell; RX MEDLINE=99223585; PubMed=10207080; RA Asano H., Li X.S., Stamatoyannopoulos G.; RT "FKLF, a novel Kruppel-like factor that activates human embryonic and RT fetal beta-like globin genes."; RL Mol. Cell. Biol. 19:3571-3579(1999). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Hepatoma; RX MEDLINE=20541714; PubMed=11087666; DOI=10.1006/geno.2000.6362; RA Scohy S., Gabant P., Van Reeth T., Hertveldt V., Dreze P.-L., RA Van Vooren P., Riviere M., Szpirer J., Szpirer C.; RT "Identification of KLF13 and KLF14 (SP6), novel members of the SP/XKLF RT transcription factor family."; RL Genomics 70:93-101(2000). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Placenta; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [5] RP VARIANTS MODY7 MET-220 AND SER-347, VARIANT ARG-62, CHARACTERIZATION RP OF VARIANTS MODY7 MET-220 AND SER-347, AND CHARACTERIZATION OF VARIANT RP ARG-62. RX PubMed=15774581; DOI=10.1073/pnas.0409177102; RA Neve B., Fernandez-Zapico M.E., Ashkenazi-Katalan V., Dina C., RA Hamid Y.H., Joly E., Vaillant E., Benmezroua Y., Durand E., RA Bakaher N., Delannoy V., Vaxillaire M., Cook T., Dallinga-Thie G.M., RA Jansen H., Charles M.-A., Clement K., Galan P., Hercberg S., RA Helbecque N., Charpentier G., Prentki M., Hansen T., Pedersen O., RA Urrutia R., Melloul D., Froguel P.; RT "Role of transcription factor KLF11 and its diabetes-associated gene RT variants in pancreatic beta cell function."; RL Proc. Natl. Acad. Sci. U.S.A. 102:4807-4812(2005). CC -!- FUNCTION: Transcription factor. Activates the epsilon- and gamma- CC globin gene promoters and, to a much lower degree, the beta-globin CC gene and represses promoters containing SP1-like binding CC inhibiting cell growth. Represses transcription of SMAD7 which CC enhances TGF-beta signaling. Induces apoptosis. CC -!- SUBCELLULAR LOCATION: Nucleus. CC -!- TISSUE SPECIFICITY: Ubiquitous. Higher expression in erythroid CC cells. CC -!- INDUCTION: By TGFB1. CC -!- DISEASE: Defects in KLF11 are the cause of maturity-onset diabetes CC of the young type 7 (MODY7) [MIM:610508]. MODY is a form of CC diabetes that is characterized by an autosomal dominant mode of CC inheritance, onset in childhood or early adulthood (usually before CC 25 years of age), a primary defect in insulin secretion and CC frequent insulin-independence at the beginning of the disease. CC -!- SIMILARITY: Belongs to the Sp1 C2H2-type zinc-finger protein CC family. CC -!- SIMILARITY: Contains 3 C2H2-type zinc fingers. CC -!- CAUTION: PubMed:11087666 sequence was originally thought to CC originate from mouse. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; AF028008; AAC61880.1; -; mRNA. DR EMBL; AF272830; AAF75793.1; -; mRNA. DR EMBL; BC063286; AAH63286.1; -; mRNA. DR EMBL; BC069383; AAH69383.1; -; mRNA. DR EMBL; BC074922; AAH74922.1; -; mRNA. DR IPI; IPI00024692; -. DR RefSeq; NP_001171187.1; NM_001177716.1. DR RefSeq; NP_001171189.1; NM_001177718.1. DR RefSeq; NP_003588.1; NM_003597.4. DR UniGene; Hs.12229; -. DR UniGene; Hs.694968; -. DR PDB; 1PO4; Model; -; A=40-52. DR PDBsum; 1PO4; -. DR ProteinModelPortal; O14901; -. DR SMR; O14901; 368-480. DR IntAct; O14901; 6. DR MINT; MINT-2795353; -. DR STRING; O14901; -. DR PhosphoSite; O14901; -. DR PRIDE; O14901; -. DR Ensembl; ENST00000305883; ENSP00000307023; ENSG00000172059. DR GeneID; 8462; -. DR KEGG; hsa:8462; -. DR UCSC; uc002raf.1; human. DR CTD; 8462; -. DR GeneCards; GC02P010100; -. DR H-InvDB; HIX0200263; -. DR HGNC; HGNC:11811; KLF11. DR MIM; 603301; gene. DR MIM; 606391; phenotype. DR MIM; 610508; phenotype. DR neXtProt; NX_O14901; -. DR Orphanet; 552; MODY syndrome. DR eggNOG; prNOG12506; -. DR HOGENOM; HBG713719; -. DR HOVERGEN; HBG052264; -. DR InParanoid; O14901; -. DR OMA; CSPKNYE; -. DR PhylomeDB; O14901; -. DR NextBio; 31670; -. DR ArrayExpress; O14901; -. DR Bgee; O14901; -. DR CleanEx; HS_KLF11; -. DR Genevestigator; O14901; -. DR GermOnline; ENSG00000172059; Homo sapiens. DR GO; GO:0005634; C:nucleus; TAS:ProtInc. DR GO; GO:0000981; F:sequence-specific DNA binding RNA polymerase II transcription factor activity; IDA:BHF-UCL. DR GO; GO:0044212; F:transcription regulatory region DNA binding; IDA:BHF-UCL. DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro. DR GO; GO:0006915; P:apoptotic process; IEA:UniProtKB-KW. DR GO; GO:0008285; P:negative regulation of cell proliferation; IDA:BHF-UCL. DR GO; GO:0000122; P:negative regulation of transcription from RNA polymerase II promoter; IDA:BHF-UCL. DR GO; GO:0043065; P:positive regulation of apoptotic process; IDA:BHF-UCL. DR GO; GO:0000115; P:regulation of transcription involved in S phase of mitotic cell cycle; IDA:BHF-UCL. DR InterPro; IPR007087; Znf_C2H2. DR InterPro; IPR015880; Znf_C2H2-like. DR InterPro; IPR013087; Znf_C2H2/integrase_DNA-bd. DR Gene3D; G3DSA:3.30.160.60; Znf_C2H2/integrase_DNA-bd; 3. DR KO; K09209; -. DR Pfam; PF00096; zf-C2H2; 3. DR SMART; SM00355; ZnF_C2H2; 3. DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 3. DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 3. PE 1: Evidence at protein level; KW 3D-structure; Activator; Apoptosis; Complete proteome; KW Diabetes mellitus; Disease mutation; DNA-binding; Metal-binding; KW Nucleus; Polymorphism; Reference proteome; Repeat; Repressor; KW Transcription; Transcription regulation; Zinc; Zinc-finger. FT CHAIN 1 512 Krueppel-like factor 11. FT /FTId=PRO_0000047180. FT ZN_FING 394 418 C2H2-type 1. FT ZN_FING 424 448 C2H2-type 2. FT ZN_FING 454 476 C2H2-type 3. FT VARIANT 62 62 Q -> R (high frequency in individuals FT with diabetes mellitus type 2; increased FT repression activity; increased binding to FT mSin3A; impairs activation of insulin FT promoter; dbSNP:rs35927125). FT /FTId=VAR_031522. FT VARIANT 220 220 T -> M (in MODY7; absent in one family FT member with diabetes; increased FT repression activity; no alteration in FT binding affinity to mSin3A; FT dbSNP:rs34336420). FT /FTId=VAR_031523. FT VARIANT 347 347 A -> S (in MODY7; increased repression FT activity; no alteration in binding FT affinity to mSin3A). FT /FTId=VAR_031524. FT VARIANT 378 378 S -> F (in dbSNP:rs35476458). FT /FTId=VAR_052717. FT CONFLICT 125 125 P -> S (in Ref. 3). FT CONFLICT 144 150 VVARALS -> QWPDSD (in Ref. 3). FT CONFLICT 371 371 P -> L (in Ref. 3). FT CONFLICT 415 415 L -> V (in Ref. 3). SQ SEQUENCE 512 AA; 55139 MW; A69863B5467FB068 CRC64; MHTPDFAGPD DARAVDIMDI CESILERKRH DSERSTCSIL EQTDMEAVEA LVCMSSWGQR SQKGDLLRIR PLTPVSDSGD VTTTVHMDAA TPELPKDFHS LSTLCITPPQ SPDLVEPSTR TPVSPQVTDS KACTATDVLQ SSAVVARALS GGAERGLLGL EPVPSSPCRA KGTSVIRHTG ESPAACFPTI QTPDCRLSDS REGEEQLLGH FETLQDTHLT DSLLSTNLVS CQPCLHKSGG LLLTDKGQQA GWPGAVQTCS PKNYENDLPR KTTPLISVSV PAPPVLCQMI PVTGQSSMLP AFLKPPPQLS VGTVRPILAQ AAPAPQPVFV GPAVPQGAVM LVLPQGALPP PAPCAANVMA AGNTKLLPLA PAPVFITSSQ NCVPQVDFSR RRNYVCSFPG CRKTYFKSSH LKAHLRTHTG EKPFNCSWDG CDKKFARSDE LSRHRRTHTG EKKFVCPVCD RRFMRSDHLT KHARRHMTTK KIPGWQAEVG KLNRIASAES PGSPLVSMPA SA //