HNF6_HUMAN
ID HNF6_HUMAN Reviewed; 465 AA.
AC Q9UBC0; B2RTV4; Q99744; Q9UMR6;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 181.
DE RecName: Full=Hepatocyte nuclear factor 6;
DE Short=HNF-6;
DE AltName: Full=One cut domain family member 1;
DE AltName: Full=One cut homeobox 1;
GN Name=ONECUT1; Synonyms=HNF6, HNF6A;
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;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Furuta H., Horikawa Y., Wang Y.-Q., Bell G.I.;
RT "Isolation and characterization of the human hepatocyte nuclear factor 6
RT gene.";
RL Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Furuta H., Wang Y.-Q., Bell G.I.;
RT "The sequence of human mRNA for the hepatocyte nuclear factor-6 alpha.";
RL Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-368, AND VARIANT ALA-75.
RX PubMed=10491763; DOI=10.1007/s001250051261;
RA Moeller A.M., Ek J., Durviaux S.M., Urhammer S.A., Clausen J.O., Eiberg H.,
RA Hansen T., Rousseau G.G., Lemaigre F.P., Pedersen O.;
RT "Hepatocyte nuclear factor-6: associations between genetic variability and
RT type II diabetes and between genetic variability and estimates of insulin
RT secretion.";
RL Diabetologia 42:1011-1016(1999).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 174-465.
RA Samadani U., Costa R.H.;
RT "Yeast one-hybrid cloning of the partial human cDNA for hepatocyte nuclear
RT factor 6.";
RL Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Transcriptional activator. Binds the consensus sequence 5'-
CC DHWATTGAYTWWD-3' on a variety of gene promoters such as those of HNF3B
CC and TTR. Important for liver genes transcription.
CC -!- SUBUNIT: Binds DNA as a monomer. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: Highly expressed in liver; lower expression in
CC testis and skin.
CC -!- SIMILARITY: Belongs to the CUT homeobox family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Wikipedia; Note=Hepatocyte nuclear factors entry;
CC URL="https://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors";
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; AF035581; AAD02033.1; -; Genomic_DNA.
DR EMBL; AF035580; AAD02033.1; JOINED; Genomic_DNA.
DR EMBL; U96173; AAD00826.1; -; mRNA.
DR EMBL; CH471082; EAW77461.1; -; Genomic_DNA.
DR EMBL; BC140830; AAI40831.1; -; mRNA.
DR EMBL; Y17739; CAB50769.1; -; Genomic_DNA.
DR EMBL; U77975; AAB61705.1; -; mRNA.
DR CCDS; CCDS10150.1; -.
DR RefSeq; NP_004489.1; NM_004498.2.
DR AlphaFoldDB; Q9UBC0; -.
DR BMRB; Q9UBC0; -.
DR SMR; Q9UBC0; -.
DR BioGRID; 109417; 40.
DR CORUM; Q9UBC0; -.
DR IntAct; Q9UBC0; 1.
DR STRING; 9606.ENSP00000302630; -.
DR iPTMnet; Q9UBC0; -.
DR PhosphoSitePlus; Q9UBC0; -.
DR BioMuta; ONECUT1; -.
DR DMDM; 13627184; -.
DR MassIVE; Q9UBC0; -.
DR PaxDb; Q9UBC0; -.
DR PeptideAtlas; Q9UBC0; -.
DR PRIDE; Q9UBC0; -.
DR ProteomicsDB; 83930; -.
DR Antibodypedia; 930; 241 antibodies from 30 providers.
DR DNASU; 3175; -.
DR Ensembl; ENST00000305901.7; ENSP00000302630.4; ENSG00000169856.9.
DR GeneID; 3175; -.
DR KEGG; hsa:3175; -.
DR MANE-Select; ENST00000305901.7; ENSP00000302630.4; NM_004498.4; NP_004489.1.
DR UCSC; uc002aci.3; human.
DR CTD; 3175; -.
DR DisGeNET; 3175; -.
DR GeneCards; ONECUT1; -.
DR HGNC; HGNC:8138; ONECUT1.
DR HPA; ENSG00000169856; Group enriched (gallbladder, liver, pancreas, retina).
DR MIM; 604164; gene.
DR neXtProt; NX_Q9UBC0; -.
DR OpenTargets; ENSG00000169856; -.
DR PharmGKB; PA31924; -.
DR VEuPathDB; HostDB:ENSG00000169856; -.
DR eggNOG; KOG2252; Eukaryota.
DR GeneTree; ENSGT00950000183103; -.
DR HOGENOM; CLU_018642_0_0_1; -.
DR InParanoid; Q9UBC0; -.
DR OMA; AMLGRHT; -.
DR OrthoDB; 709082at2759; -.
DR PhylomeDB; Q9UBC0; -.
DR TreeFam; TF318206; -.
DR PathwayCommons; Q9UBC0; -.
DR Reactome; R-HSA-210744; Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells.
DR Reactome; R-HSA-210747; Regulation of gene expression in early pancreatic precursor cells.
DR SignaLink; Q9UBC0; -.
DR BioGRID-ORCS; 3175; 14 hits in 1093 CRISPR screens.
DR ChiTaRS; ONECUT1; human.
DR GenomeRNAi; 3175; -.
DR Pharos; Q9UBC0; Tbio.
DR PRO; PR:Q9UBC0; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q9UBC0; protein.
DR Bgee; ENSG00000169856; Expressed in body of pancreas and 43 other tissues.
DR ExpressionAtlas; Q9UBC0; baseline and differential.
DR Genevisible; Q9UBC0; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003682; F:chromatin binding; IEA:Ensembl.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; ISS:BHF-UCL.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0009653; P:anatomical structure morphogenesis; IEA:Ensembl.
DR GO; GO:0030183; P:B cell differentiation; IEA:Ensembl.
DR GO; GO:0045165; P:cell fate commitment; IEA:Ensembl.
DR GO; GO:0016477; P:cell migration; IEA:Ensembl.
DR GO; GO:0060271; P:cilium assembly; IEA:Ensembl.
DR GO; GO:0007492; P:endoderm development; IEA:Ensembl.
DR GO; GO:0002064; P:epithelial cell development; IEA:Ensembl.
DR GO; GO:0006006; P:glucose metabolic process; IEA:Ensembl.
DR GO; GO:0001889; P:liver development; IEA:Ensembl.
DR GO; GO:0030512; P:negative regulation of transforming growth factor beta receptor signaling pathway; IEA:Ensembl.
DR GO; GO:0007219; P:Notch signaling pathway; IEA:Ensembl.
DR GO; GO:0003310; P:pancreatic A cell differentiation; IEA:Ensembl.
DR GO; GO:0003311; P:pancreatic D cell differentiation; IEA:Ensembl.
DR GO; GO:0030335; P:positive regulation of cell migration; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0001952; P:regulation of cell-matrix adhesion; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; NAS:UniProtKB.
DR GO; GO:0048536; P:spleen development; IEA:Ensembl.
DR GO; GO:0007179; P:transforming growth factor beta receptor signaling pathway; IEA:Ensembl.
DR GO; GO:0003309; P:type B pancreatic cell differentiation; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR Gene3D; 1.10.260.40; -; 1.
DR InterPro; IPR003350; CUT_dom.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR010982; Lambda_DNA-bd_dom_sf.
DR Pfam; PF02376; CUT; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR SMART; SM01109; CUT; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR SUPFAM; SSF47413; SSF47413; 1.
DR PROSITE; PS51042; CUT; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 2: Evidence at transcript level;
KW Activator; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..465
FT /note="Hepatocyte nuclear factor 6"
FT /id="PRO_0000202402"
FT DNA_BIND 283..369
FT /note="CUT"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00374"
FT DNA_BIND 385..444
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 17..55
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 120..141
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 264..290
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 442..465
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 122..140
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 269..290
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 446..465
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 75
FT /note="P -> A (in dbSNP:rs74805019)"
FT /evidence="ECO:0000269|PubMed:10491763"
FT /id="VAR_010729"
FT CONFLICT 220
FT /note="A -> T (in Ref. 5 and 6)"
FT /evidence="ECO:0000305"
FT CONFLICT 284
FT /note="S -> N (in Ref. 6; AAB61705)"
FT /evidence="ECO:0000305"
FT CONFLICT 288
FT /note="Q -> H (in Ref. 6; AAB61705)"
FT /evidence="ECO:0000305"
FT CONFLICT 318
FT /note="R -> K (in Ref. 6; AAB61705)"
FT /evidence="ECO:0000305"
FT CONFLICT 386
FT /note="K -> Q (in Ref. 6; AAB61705)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 465 AA; 51023 MW; F47F78957A6ECFC2 CRC64;
MNAQLTMEAI GELHGVSHEP VPAPADLLGG SPHARSSVAH RGSHLPPAHP RSMGMASLLD
GGSGGGDYHH HHRAPEHSLA GPLHPTMTMA CETPPGMSMP TTYTTLTPLQ PLPPISTVSD
KFPHHHHHHH HHHHPHHHQR LAGNVSGSFT LMRDERGLAS MNNLYTPYHK DVAGMGQSLS
PLSSSGLGSI HNSQQGLPHY AHPGAAMPTD KMLTPNGFEA HHPAMLGRHG EQHLTPTSAG
MVPINGLPPH HPHAHLNAQG HGQLLGTARE PNPSVTGAQV SNGSNSGQME EINTKEVAQR
ITTELKRYSI PQAIFAQRVL CRSQGTLSDL LRNPKPWSKL KSGRETFRRM WKWLQEPEFQ
RMSALRLAAC KRKEQEHGKD RGNTPKKPRL VFTDVQRRTL HAIFKENKRP SKELQITISQ
QLGLELSTVS NFFMNARRRS LDKWQDEGSS NSGNSSSSSS TCTKA
