ID Q6FHW6_HUMAN Unreviewed; 557 AA. AC Q6FHW6; DT 10-MAY-2005, integrated into UniProtKB/TrEMBL. DT 10-MAY-2005, sequence version 1. DT 24-JUL-2024, entry version 163. DE RecName: Full=Hepatocyte nuclear factor 1-beta {ECO:0000256|ARBA:ARBA00039291}; DE AltName: Full=Transcription factor 2 {ECO:0000256|ARBA:ARBA00041233}; GN Name=TCF2 {ECO:0000313|EMBL:CAG38809.1}; GN ORFNames=hCG_27684 {ECO:0000313|EMBL:EAW57603.1}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606 {ECO:0000313|EMBL:CAG38809.1}; RN [1] {ECO:0000313|EMBL:EAW57603.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=11181995; DOI=10.1126/science.1058040; RA Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G., RA Smith H.O., Yandell M., Evans C.A., Holt R.A., Gocayne J.D., Amanatides P., RA Ballew R.M., Huson D.H., Wortman J.R., Zhang Q., Kodira C.D., Zheng X.H., RA Chen L., Skupski M., Subramanian G., Thomas P.D., Zhang J., RA Gabor Miklos G.L., Nelson C., Broder S., Clark A.G., Nadeau J., RA McKusick V.A., Zinder N., Levine A.J., Roberts R.J., Simon M., Slayman C., RA Hunkapiller M., Bolanos R., Delcher A., Dew I., Fasulo D., Flanigan M., RA Florea L., Halpern A., Hannenhalli S., Kravitz S., Levy S., Mobarry C., RA Reinert K., Remington K., Abu-Threideh J., Beasley E., Biddick K., RA Bonazzi V., Brandon R., Cargill M., Chandramouliswaran I., Charlab R., RA Chaturvedi K., Deng Z., Di Francesco V., Dunn P., Eilbeck K., RA Evangelista C., Gabrielian A.E., Gan W., Ge W., Gong F., Gu Z., Guan P., RA Heiman T.J., Higgins M.E., Ji R.R., Ke Z., Ketchum K.A., Lai Z., Lei Y., RA Li Z., Li J., Liang Y., Lin X., Lu F., Merkulov G.V., Milshina N., RA Moore H.M., Naik A.K., Narayan V.A., Neelam B., Nusskern D., Rusch D.B., RA Salzberg S., Shao W., Shue B., Sun J., Wang Z., Wang A., Wang X., Wang J., RA Wei M., Wides R., Xiao C., Yan C., Yao A., Ye J., Zhan M., Zhang W., RA Zhang H., Zhao Q., Zheng L., Zhong F., Zhong W., Zhu S., Zhao S., RA Gilbert D., Baumhueter S., Spier G., Carter C., Cravchik A., Woodage T., RA Ali F., An H., Awe A., Baldwin D., Baden H., Barnstead M., Barrow I., RA Beeson K., Busam D., Carver A., Center A., Cheng M.L., Curry L., RA Danaher S., Davenport L., Desilets R., Dietz S., Dodson K., Doup L., RA Ferriera S., Garg N., Gluecksmann A., Hart B., Haynes J., Haynes C., RA Heiner C., Hladun S., Hostin D., Houck J., Howland T., Ibegwam C., RA Johnson J., Kalush F., Kline L., Koduru S., Love A., Mann F., May D., RA McCawley S., McIntosh T., McMullen I., Moy M., Moy L., Murphy B., RA Nelson K., Pfannkoch C., Pratts E., Puri V., Qureshi H., Reardon M., RA Rodriguez R., Rogers Y.H., Romblad D., Ruhfel B., Scott R., Sitter C., RA Smallwood M., Stewart E., Strong R., Suh E., Thomas R., Tint N.N., Tse S., RA Vech C., Wang G., Wetter J., Williams S., Williams M., Windsor S., RA Winn-Deen E., Wolfe K., Zaveri J., Zaveri K., Abril J.F., Guigo R., RA Campbell M.J., Sjolander K.V., Karlak B., Kejariwal A., Mi H., Lazareva B., RA Hatton T., Narechania A., Diemer K., Muruganujan A., Guo N., Sato S., RA Bafna V., Istrail S., Lippert R., Schwartz R., Walenz B., Yooseph S., RA Allen D., Basu A., Baxendale J., Blick L., Caminha M., Carnes-Stine J., RA Caulk P., Chiang Y.H., Coyne M., Dahlke C., Mays A., Dombroski M., RA Donnelly M., Ely D., Esparham S., Fosler C., Gire H., Glanowski S., RA Glasser K., Glodek A., Gorokhov M., Graham K., Gropman B., Harris M., RA Heil J., Henderson S., Hoover J., Jennings D., Jordan C., Jordan J., RA Kasha J., Kagan L., Kraft C., Levitsky A., Lewis M., Liu X., Lopez J., RA Ma D., Majoros W., McDaniel J., Murphy S., Newman M., Nguyen T., Nguyen N., RA Nodell M., Pan S., Peck J., Peterson M., Rowe W., Sanders R., Scott J., RA Simpson M., Smith T., Sprague A., Stockwell T., Turner R., Venter E., RA Wang M., Wen M., Wu D., Wu M., Xia A., Zandieh A., Zhu X.; RT "The sequence of the human genome."; RL Science 291:1304-1351(2001). RN [2] {ECO:0000313|EMBL:AAP35790.1} RP NUCLEOTIDE SEQUENCE. RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., RA Phelan M., Farmer A.; RT "Cloning of human full-length CDSs in BD Creator(TM) System Donor vector."; RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases. RN [3] {ECO:0000313|EMBL:CAG38809.1} RP NUCLEOTIDE SEQUENCE. RA Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., RA Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., RA LaBaer J.; RT "Cloning of human full open reading frames in Gateway(TM) system entry RT vector (pDONR201)."; RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases. RN [4] {ECO:0000313|EMBL:EAW57603.1} RP NUCLEOTIDE SEQUENCE. RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [5] {ECO:0000313|EMBL:BAF82820.1} RP NUCLEOTIDE SEQUENCE. RC TISSUE=Thalamus {ECO:0000313|EMBL:BAF82820.1}; RA Wakamatsu A., Yamamoto J., Kimura K., Ishii S., Watanabe K., Sugiyama A., RA Murakawa K., Kaida T., Tsuchiya K., Fukuzumi Y., Kumagai A., Oishi Y., RA Yamamoto S., Ono Y., Komori Y., Yamazaki M., Kisu Y., Nishikawa T., RA Sugano S., Nomura N., Isogai T.; RT "NEDO human cDNA sequencing project."; RL Submitted (OCT-2007) to the EMBL/GenBank/DDBJ databases. CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000256|ARBA:ARBA00004123, CC ECO:0000256|PROSITE-ProRule:PRU00108}. CC -!- SIMILARITY: Belongs to the HNF1 homeobox family. CC {ECO:0000256|ARBA:ARBA00009966}. 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; BT007126; AAP35790.1; -; mRNA. DR EMBL; AK290131; BAF82820.1; -; mRNA. DR EMBL; CR536572; CAG38809.1; -; mRNA. DR EMBL; CH471199; EAW57603.1; -; Genomic_DNA. DR RefSeq; NP_000449.1; NM_000458.3. DR AlphaFoldDB; Q6FHW6; -. DR SMR; Q6FHW6; -. DR Antibodypedia; 72795; 572 antibodies from 39 providers. DR DNASU; 6928; -. DR GeneID; 6928; -. DR KEGG; hsa:6928; -. DR UCSC; uc002hok.5; human. DR CTD; 6928; -. DR DisGeNET; 6928; -. DR PharmGKB; PA162391083; -. DR VEuPathDB; HostDB:ENSG00000275410; -. DR OMA; GQSDDTC; -. DR OrthoDB; 5398560at2759; -. DR BioGRID-ORCS; 6928; 78 hits in 1179 CRISPR screens. DR ChiTaRS; HNF1B; human. DR ExpressionAtlas; Q6FHW6; baseline and differential. DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl. DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IEA:Ensembl. DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl. DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IEA:TreeGrafter. DR GO; GO:0009952; P:anterior/posterior pattern specification; IEA:Ensembl. DR GO; GO:0048754; P:branching morphogenesis of an epithelial tube; IEA:Ensembl. DR GO; GO:0048557; P:embryonic digestive tract morphogenesis; IEA:Ensembl. DR GO; GO:0001714; P:endodermal cell fate specification; IEA:Ensembl. DR GO; GO:0050673; P:epithelial cell proliferation; IEA:Ensembl. DR GO; GO:0061017; P:hepatoblast differentiation; IEA:Ensembl. DR GO; GO:0030902; P:hindbrain development; IEA:Ensembl. DR GO; GO:0001826; P:inner cell mass cell differentiation; IEA:Ensembl. DR GO; GO:0030073; P:insulin secretion; IEA:Ensembl. DR GO; GO:1900200; P:mesenchymal cell apoptotic process involved in metanephros development; IEA:Ensembl. DR GO; GO:0072181; P:mesonephric duct formation; IEA:Ensembl. DR GO; GO:0061296; P:negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis; IEA:Ensembl. DR GO; GO:1900212; P:negative regulation of mesenchymal cell apoptotic process involved in metanephros development; IEA:Ensembl. DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IEA:Ensembl. DR GO; GO:0007219; P:Notch signaling pathway; IEA:Ensembl. DR GO; GO:0031016; P:pancreas development; IEA:InterPro. DR GO; GO:0010628; P:positive regulation of gene expression; IEA:Ensembl. DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IEA:Ensembl. DR GO; GO:0072095; P:regulation of branch elongation involved in ureteric bud branching; IEA:Ensembl. DR GO; GO:0030111; P:regulation of Wnt signaling pathway; IEA:Ensembl. DR GO; GO:0009749; P:response to glucose; IEA:Ensembl. DR GO; GO:0060677; P:ureteric bud elongation; IEA:Ensembl. DR CDD; cd00086; homeodomain; 1. DR Gene3D; 1.10.10.60; Homeodomain-like; 1. DR Gene3D; 1.10.260.40; lambda repressor-like DNA-binding domains; 1. DR InterPro; IPR039066; HNF-1. DR InterPro; IPR006899; HNF-1_N. DR InterPro; IPR044869; HNF-1_POU. DR InterPro; IPR023219; HNF1_dimer_N_dom_sf. DR InterPro; IPR006897; HNF1b_C. DR InterPro; IPR044866; HNF_P1. DR InterPro; IPR009057; Homeobox-like_sf. DR InterPro; IPR001356; Homeobox_dom. DR InterPro; IPR010982; Lambda_DNA-bd_dom_sf. DR PANTHER; PTHR11568; HEPATOCYTE NUCLEAR FACTOR 1; 1. DR PANTHER; PTHR11568:SF2; HEPATOCYTE NUCLEAR FACTOR 1-BETA; 1. DR Pfam; PF04814; HNF-1_N; 1. DR Pfam; PF04812; HNF-1B_C; 1. DR SMART; SM00389; HOX; 1. DR SUPFAM; SSF100957; Dimerization cofactor of HNF-1 alpha; 1. DR SUPFAM; SSF46689; Homeodomain-like; 1. DR SUPFAM; SSF47413; lambda repressor-like DNA-binding domains; 1. DR PROSITE; PS51937; HNF_P1; 1. DR PROSITE; PS50071; HOMEOBOX_2; 1. DR PROSITE; PS51936; POU_4; 1. PE 2: Evidence at transcript level; KW Activator {ECO:0000256|ARBA:ARBA00023159}; KW DNA-binding {ECO:0000256|ARBA:ARBA00023125, ECO:0000256|PROSITE- KW ProRule:PRU00108}; KW Homeobox {ECO:0000256|ARBA:ARBA00023155, ECO:0000256|PROSITE- KW ProRule:PRU00108}; KW Nucleus {ECO:0000256|ARBA:ARBA00023242, ECO:0000256|PROSITE- KW ProRule:PRU00108}; Transcription {ECO:0000256|ARBA:ARBA00023163}; KW Transcription regulation {ECO:0000256|ARBA:ARBA00023015}. FT DOMAIN 1..32 FT /note="HNF-p1" FT /evidence="ECO:0000259|PROSITE:PS51937" FT DOMAIN 93..188 FT /note="POU-specific atypical" FT /evidence="ECO:0000259|PROSITE:PS51936" FT DOMAIN 229..310 FT /note="Homeobox" FT /evidence="ECO:0000259|PROSITE:PS50071" FT DNA_BIND 231..311 FT /note="Homeobox" FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00108" FT REGION 64..85 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 324..352 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" SQ SEQUENCE 557 AA; 61324 MW; 9E1ECC7423B73980 CRC64; MVSKLTSLQQ ELLSALLSSG VTKEVLVQAL EELLPSPNFG VKLETLPLSP GSGAEPDTKP VFHTLTNGHA KGRLSGDEGS EDGDDYDTPP ILKELQALNT EEAAEQRAEV DRMLSEDPWR AAKMIKGYMQ QHNIPQREVV DVTGLNQSHL SQHLNKGTPM KTQKRAALYT WYVRKQREIL RQFNQTVQSS GNMTDKSSQD QLLFLFPEFS QQSHGPGQSD DACSEPTNKK MRRNRFKWGP ASQQILYQAY DRQKNPSKEE REALVEECNR AECLQRGVSP SKAHGLGSNL VTEVRVYNWF ANRRKEEAFR QKLAMDAYSS NQTHSLNPLL SHGSPHHQPS SSPPNKLSGV RYSQQGNNEI TSSSTISHHG NSAMVTSQSV LQQVSPASLD PGHNLLSPDG KMISVSGGGL PPVSTLTNIH SLSHHNPQQS QNLIMTPLSG VMAIAQSLNT SQAQSVPVIN SVAGSLAALQ PVQFSQQLHS PHQQPLMQQS PGSHMAQQPF MAAVTQLQNS HMYAHKQEPP QYSHTSRFPS AMVVTDTSSI STLTNMSSSK QCPLQAW //