ID   TF7L1_HUMAN             Reviewed;         588 AA.
AC   Q9HCS4; Q53R97; Q6PD70; Q9NP00;
DT   25-MAR-2003, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2001, sequence version 1.
DT   05-OCT-2010, entry version 77.
DE   RecName: Full=Transcription factor 7-like 1;
DE   AltName: Full=HMG box transcription factor 3;
DE            Short=TCF-3;
GN   Name=TCF7L1; Synonyms=TCF3;
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].
RC   TISSUE=Fetal lung;
RX   MEDLINE=20535962; PubMed=11085512;
RA   Sagara N., Katoh M.;
RT   "Mitomycin C resistance induced by TCF-3 overexpression in gastric
RT   cancer cell line MKN28 is associated with DT-diaphorase down-
RT   regulation.";
RL   Cancer Res. 60:5959-5962(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15815621; DOI=10.1038/nature03466;
RA   Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
RA   Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA   Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA   Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA   Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA   Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA   Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA   Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA   Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA   Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA   McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA   Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
RA   Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA   Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA   Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA   Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA   Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA   Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA   Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA   Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA   McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA   Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA   Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
RA   Waterston R.H., Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2
RT   and 4.";
RL   Nature 434:724-731(2005).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-533.
RC   TISSUE=Eye;
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   [4]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 331-419.
RX   MEDLINE=92158676; PubMed=1741298; DOI=10.1093/nar/20.3.611;
RA   Castrop J., van Norren K., Clevers H.C.;
RT   "A gene family of HMG-box transcription factors with homology to TCF-
RT   1.";
RL   Nucleic Acids Res. 20:611-611(1992).
RN   [5]
RP   TISSUE SPECIFICITY.
RX   MEDLINE=99113953; PubMed=9916915;
RA   Barker N., Huls G., Korinek V., Clevers H.;
RT   "Restricted high level expression of Tcf-4 protein in intestinal and
RT   mammary gland epithelium.";
RL   Am. J. Pathol. 154:29-35(1999).
RN   [6]
RP   VARIANT [LARGE SCALE ANALYSIS] ASN-147.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA   Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA   Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA   Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA   Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal
RT   cancers.";
RL   Science 314:268-274(2006).
CC   -!- FUNCTION: Participates in the Wnt signaling pathway. Binds to DNA
CC       and acts as a repressor in the absence of CTNNB1, and as an
CC       activator in its presence. Necessary for the terminal
CC       differentiation of epidermal cells, the formation of keratohyalin
CC       granules and the development of the barrier function of the
CC       epidermis (By similarity). Down-regulates NQO1, leading to
CC       increased mitomycin c resistance.
CC   -!- SUBUNIT: Binds the armadillo repeat of CTNNB1 and forms a stable
CC       complex (By similarity).
CC   -!- SUBCELLULAR LOCATION: Nucleus.
CC   -!- TISSUE SPECIFICITY: Detected in hair follicles and skin
CC       keratinocytes, and at lower levels in stomach epithelium.
CC   -!- DOMAIN: The putative Groucho interaction domain between the N-
CC       terminal CTNNB1 binding domain and the HMG-box is necessary for
CC       repression of the transactivation mediated by TCF7L1 and CTNNB1
CC       (By similarity).
CC   -!- SIMILARITY: Belongs to the TCF/LEF family.
CC   -!- SIMILARITY: Contains 1 HMG box DNA-binding domain.
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; AB031046; BAB18185.1; -; mRNA.
DR   EMBL; AC011236; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC093162; AAY24094.1; -; Genomic_DNA.
DR   EMBL; BC058894; AAH58894.1; -; mRNA.
DR   EMBL; X62870; CAB91064.1; -; Genomic_DNA.
DR   IPI; IPI00010396; -.
DR   PIR; S22806; S22806.
DR   RefSeq; NP_112573.1; -.
DR   UniGene; Hs.516297; -.
DR   ProteinModelPortal; Q9HCS4; -.
DR   SMR; Q9HCS4; 32-70, 345-420.
DR   STRING; Q9HCS4; -.
DR   PRIDE; Q9HCS4; -.
DR   Ensembl; ENST00000282111; ENSP00000282111; ENSG00000152284.
DR   GeneID; 83439; -.
DR   KEGG; hsa:83439; -.
DR   UCSC; uc002soy.1; human.
DR   CTD; 83439; -.
DR   GeneCards; GC02P085272; -.
DR   H-InvDB; HIX0029776; -.
DR   HGNC; HGNC:11640; TCF7L1.
DR   MIM; 604652; gene.
DR   PharmGKB; PA36393; -.
DR   eggNOG; prNOG14359; -.
DR   HOGENOM; HBG714960; -.
DR   HOVERGEN; HBG000419; -.
DR   InParanoid; Q9HCS4; -.
DR   OMA; RPQDSAF; -.
DR   OrthoDB; EOG908QVN; -.
DR   PhylomeDB; Q9HCS4; -.
DR   NextBio; 72314; -.
DR   ArrayExpress; Q9HCS4; -.
DR   Bgee; Q9HCS4; -.
DR   CleanEx; HS_TCF3; -.
DR   CleanEx; HS_TCF7L1; -.
DR   Genevestigator; Q9HCS4; -.
DR   GermOnline; ENSG00000152284; Homo sapiens.
DR   GO; GO:0005634; C:nucleus; NAS:UniProtKB.
DR   GO; GO:0003700; F:transcription factor activity; NAS:UniProtKB.
DR   GO; GO:0006325; P:chromatin organization; NAS:UniProtKB.
DR   GO; GO:0030111; P:regulation of Wnt receptor signaling pathway; NAS:UniProtKB.
DR   GO; GO:0006350; P:transcription; IEA:UniProtKB-KW.
DR   GO; GO:0016055; P:Wnt receptor signaling pathway; IEA:UniProtKB-KW.
DR   InterPro; IPR013558; CTNNB1-bd_N.
DR   InterPro; IPR000910; HMG_HMG1/HMG2.
DR   InterPro; IPR009071; HMG_superfamily.
DR   Gene3D; G3DSA:1.10.30.10; HMG-box; 1.
DR   Pfam; PF08347; CTNNB1_binding; 1.
DR   Pfam; PF00505; HMG_box; 1.
DR   SMART; SM00398; HMG; 1.
DR   SUPFAM; SSF47095; HMG-box; 1.
DR   PROSITE; PS50118; HMG_BOX_2; 1.
PE   2: Evidence at transcript level;
KW   Activator; Complete proteome; DNA-binding; Nucleus; Polymorphism;
KW   Repressor; Transcription; Transcription regulation;
KW   Wnt signaling pathway.
FT   CHAIN         1    588       Transcription factor 7-like 1.
FT                                /FTId=PRO_0000048614.
FT   DNA_BIND    346    414       HMG box.
FT   REGION        1     74       CTNNB1-binding (By similarity).
FT   MOTIF       421    427       Nuclear localization signal (Potential).
FT   COMPBIAS      5     29       Gly-rich.
FT   COMPBIAS    117    326       Pro-rich.
FT   VARIANT     147    147       T -> N (in a breast cancer sample;
FT                                somatic mutation).
FT                                /FTId=VAR_035938.
FT   VARIANT     533    533       G -> R (in dbSNP:rs11547160).
FT                                /FTId=VAR_049561.
FT   CONFLICT     14     14       Missing (in Ref. 3; AAH58894).
SQ   SEQUENCE   588 AA;  62631 MW;  82FB0C9300482A02 CRC64;
     MPQLGGGGGG GGGGSGGGGG SSAGAAGGGD DLGANDELIP FQDEGGEEQE PSSDSASAQR
     DLDEVKSSLV NESENQSSSS DSEAERRPQP VRDTFQKPRD YFAEVRRPQD SAFFKGPPYP
     GYPFLMIPDL SSPYLSNGPL SPGGARTYLQ MKWPLLDVPS SATVKDTRSP SPAHLSNKVP
     VVQHPHHMHP LTPLITYSND HFSPGSPPTH LSPEIDPKTG IPRPPHPSEL SPYYPLSPGA
     VGQIPHPLGW LVPQQGQPMY SLPPGGFRHP YPALAMNASM SSLVSSRFSP HMVAPAHPGL
     PTSGIPHPAI VSPIVKQEPA PPSLSPAVSV KSPVTVKKEE EKKPHVKKPL NAFMLYMKEM
     RAKVVAECTL KESAAINQIL GRKWHNLSRE EQAKYYELAR KERQLHSQLY PTWSARDNYG
     KKKKRKREKQ LSQTQSQQQV QEAEGALASK SKKPCVQYLP PEKPCDSPAS SHGSMLDSPA
     TPSAALASPA APAATHSEQA QPLSLTTKPE TRAQLALHSA AFLSAKAAAS SSGQMGSQPP
     LLSRPLPLGS MPTALLASPP SFPATLHAHQ ALPVLQAQPL SLVTKSAH
//