HNF4G_HUMAN
ID HNF4G_HUMAN Reviewed; 408 AA.
AC Q14541; Q7Z2V9; Q9UH81; Q9UIS6;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 13-NOV-2007, sequence version 3.
DT 03-AUG-2022, entry version 211.
DE RecName: Full=Hepatocyte nuclear factor 4-gamma;
DE Short=HNF-4-gamma;
DE AltName: Full=Nuclear receptor subfamily 2 group A member 2;
GN Name=HNF4G; Synonyms=NR2A2;
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 [MRNA] (ISOFORM 1).
RC TISSUE=Kidney;
RX PubMed=8622695; DOI=10.1128/mcb.16.3.925;
RA Drewes T., Senkel S., Holewa B., Ryffel G.U.;
RT "Human hepatocyte nuclear factor 4 isoforms are encoded by distinct and
RT differentially expressed genes.";
RL Mol. Cell. Biol. 16:925-931(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND VARIANT ILE-190.
RX PubMed=10512380; DOI=10.2337/diabetes.48.10.2099;
RA Plengvidhya N., Antonellis A., Wogan L.T., Poleev A., Borgschulze M.,
RA Warram J.H., Ryffel G.U., Krolewski A.S., Doria A.;
RT "Hepatocyte nuclear factor-4gamma: cDNA sequence, gene organization, and
RT mutation screening in early-onset autosomal-dominant type 2 diabetes.";
RL Diabetes 48:2099-2102(1999).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [7]
RP X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 103-328.
RX PubMed=12220494; DOI=10.1016/s0969-2126(02)00829-8;
RA Wisely G.B., Miller A.B., Davis R.G., Thornquest A.D. Jr., Johnson R.,
RA Spitzer T., Sefler A., Shearer B., Moore J.T., Miller A.B., Willson T.M.,
RA Williams S.P.;
RT "Hepatocyte nuclear factor 4 is a transcription factor that constitutively
RT binds fatty acids.";
RL Structure 10:1225-1234(2002).
CC -!- FUNCTION: Transcription factor. Has a lower transcription activation
CC potential than HNF4-alpha.
CC -!- INTERACTION:
CC Q14541-2; Q9UEG4: ZNF629; NbExp=3; IntAct=EBI-18543805, EBI-9977294;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q14541-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q14541-2; Sequence=VSP_037691;
CC -!- TISSUE SPECIFICITY: Expressed in pancreas, kidney, small intestine and
CC testis. Weakly expressed in colon. Not expressed in liver, skeletal
CC muscle, lung, placenta, brain, heart, peripheral blood, ovary,
CC prostate, thymus and spleen.
CC -!- SIMILARITY: Belongs to the nuclear hormone receptor family. NR2
CC subfamily. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAE11875.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Wikipedia; Note=Hepatocyte nuclear factors entry;
CC URL="https://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors";
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DR EMBL; Z49826; CAA89990.2; -; mRNA.
DR EMBL; BX571750; CAE11875.1; ALT_INIT; mRNA.
DR EMBL; AF133504; AAF00110.1; -; Genomic_DNA.
DR EMBL; AF133496; AAF00110.1; JOINED; Genomic_DNA.
DR EMBL; AF133497; AAF00110.1; JOINED; Genomic_DNA.
DR EMBL; AF133498; AAF00110.1; JOINED; Genomic_DNA.
DR EMBL; AF133499; AAF00110.1; JOINED; Genomic_DNA.
DR EMBL; AF133500; AAF00110.1; JOINED; Genomic_DNA.
DR EMBL; AF133501; AAF00110.1; JOINED; Genomic_DNA.
DR EMBL; AF133502; AAF00110.1; JOINED; Genomic_DNA.
DR EMBL; AF133503; AAF00110.1; JOINED; Genomic_DNA.
DR EMBL; AF207953; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC105009; AAI05010.1; -; mRNA.
DR EMBL; BC105011; AAI05012.1; -; mRNA.
DR CCDS; CCDS83303.1; -. [Q14541-1]
DR PIR; JC6095; JC6095.
DR RefSeq; NP_001317490.1; NM_001330561.1. [Q14541-1]
DR RefSeq; NP_004124.4; NM_004133.4.
DR RefSeq; XP_016868862.1; XM_017013373.1. [Q14541-1]
DR RefSeq; XP_016868863.1; XM_017013374.1. [Q14541-1]
DR RefSeq; XP_016868864.1; XM_017013375.1. [Q14541-1]
DR RefSeq; XP_016868865.1; XM_017013376.1. [Q14541-1]
DR PDB; 1LV2; X-ray; 2.70 A; A=103-328.
DR PDBsum; 1LV2; -.
DR AlphaFoldDB; Q14541; -.
DR SMR; Q14541; -.
DR BioGRID; 109416; 17.
DR IntAct; Q14541; 3.
DR STRING; 9606.ENSP00000379701; -.
DR ChEMBL; CHEMBL1961786; -.
DR DrugBank; DB03796; Palmitic Acid.
DR iPTMnet; Q14541; -.
DR PhosphoSitePlus; Q14541; -.
DR BioMuta; HNF4G; -.
DR DMDM; 160110004; -.
DR jPOST; Q14541; -.
DR MassIVE; Q14541; -.
DR MaxQB; Q14541; -.
DR PaxDb; Q14541; -.
DR PeptideAtlas; Q14541; -.
DR PRIDE; Q14541; -.
DR ProteomicsDB; 60035; -. [Q14541-1]
DR ProteomicsDB; 60036; -. [Q14541-2]
DR Antibodypedia; 1695; 182 antibodies from 27 providers.
DR DNASU; 3174; -.
DR Ensembl; ENST00000354370.5; ENSP00000346339.1; ENSG00000164749.13. [Q14541-1]
DR Ensembl; ENST00000674002.1; ENSP00000501146.1; ENSG00000164749.13. [Q14541-2]
DR GeneID; 3174; -.
DR KEGG; hsa:3174; -.
DR UCSC; uc003yaq.4; human. [Q14541-1]
DR CTD; 3174; -.
DR DisGeNET; 3174; -.
DR GeneCards; HNF4G; -.
DR HGNC; HGNC:5026; HNF4G.
DR HPA; ENSG00000164749; Tissue enriched (intestine).
DR MIM; 605966; gene.
DR neXtProt; NX_Q14541; -.
DR OpenTargets; ENSG00000164749; -.
DR PharmGKB; PA29351; -.
DR VEuPathDB; HostDB:ENSG00000164749; -.
DR eggNOG; KOG4215; Eukaryota.
DR GeneTree; ENSGT00940000158224; -.
DR HOGENOM; CLU_007368_5_2_1; -.
DR InParanoid; Q14541; -.
DR PhylomeDB; Q14541; -.
DR TreeFam; TF352097; -.
DR PathwayCommons; Q14541; -.
DR Reactome; R-HSA-210745; Regulation of gene expression in beta cells.
DR Reactome; R-HSA-383280; Nuclear Receptor transcription pathway.
DR SignaLink; Q14541; -.
DR SIGNOR; Q14541; -.
DR BioGRID-ORCS; 3174; 17 hits in 1095 CRISPR screens.
DR ChiTaRS; HNF4G; human.
DR EvolutionaryTrace; Q14541; -.
DR GeneWiki; Hepatocyte_nuclear_factor_4_gamma; -.
DR GenomeRNAi; 3174; -.
DR Pharos; Q14541; Tbio.
DR PRO; PR:Q14541; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q14541; protein.
DR Bgee; ENSG00000164749; Expressed in jejunal mucosa and 92 other tissues.
DR ExpressionAtlas; Q14541; baseline and differential.
DR Genevisible; Q14541; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0045171; C:intercellular bridge; IDA:HPA.
DR GO; GO:0072686; C:mitotic spindle; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:ProtInc.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0004879; F:nuclear receptor activity; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR Gene3D; 1.10.565.10; -; 1.
DR Gene3D; 3.30.50.10; -; 1.
DR IDEAL; IID00077; -.
DR InterPro; IPR035500; NHR-like_dom_sf.
DR InterPro; IPR000536; Nucl_hrmn_rcpt_lig-bd.
DR InterPro; IPR001723; Nuclear_hrmn_rcpt.
DR InterPro; IPR001628; Znf_hrmn_rcpt.
DR InterPro; IPR013088; Znf_NHR/GATA.
DR Pfam; PF00104; Hormone_recep; 1.
DR Pfam; PF00105; zf-C4; 1.
DR PRINTS; PR00398; STRDHORMONER.
DR PRINTS; PR00047; STROIDFINGER.
DR SMART; SM00430; HOLI; 1.
DR SMART; SM00399; ZnF_C4; 1.
DR SUPFAM; SSF48508; SSF48508; 1.
DR PROSITE; PS51843; NR_LBD; 1.
DR PROSITE; PS00031; NUCLEAR_REC_DBD_1; 1.
DR PROSITE; PS51030; NUCLEAR_REC_DBD_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Phosphoprotein; Receptor; Reference proteome; Transcription;
KW Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..408
FT /note="Hepatocyte nuclear factor 4-gamma"
FT /id="PRO_0000053562"
FT DOMAIN 99..328
FT /note="NR LBD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01189"
FT DNA_BIND 9..84
FT /note="Nuclear receptor"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00407"
FT ZN_FING 12..32
FT /note="NR C4-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00407"
FT ZN_FING 48..72
FT /note="NR C4-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00407"
FT REGION 368..390
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 94
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P22449"
FT MOD_RES 370
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P49698"
FT MOD_RES 373
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P49698"
FT MOD_RES 377
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P49698"
FT VAR_SEQ 1
FT /note="M -> MDMANYSEVLDPTYTTLEFETMQILYNSSDSSAPETSM (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_037691"
FT VARIANT 190
FT /note="M -> I (in dbSNP:rs1805098)"
FT /evidence="ECO:0000269|PubMed:10512380"
FT /id="VAR_009704"
FT CONFLICT 28
FT /note="S -> T (in Ref. 1; CAA89990 and 3; AAF00110)"
FT /evidence="ECO:0000305"
FT CONFLICT 45
FT /note="V -> I (in Ref. 1; CAA89990 and 3; AAF00110)"
FT /evidence="ECO:0000305"
FT HELIX 103..116
FT /evidence="ECO:0007829|PDB:1LV2"
FT HELIX 136..155
FT /evidence="ECO:0007829|PDB:1LV2"
FT HELIX 158..161
FT /evidence="ECO:0007829|PDB:1LV2"
FT HELIX 167..174
FT /evidence="ECO:0007829|PDB:1LV2"
FT HELIX 176..188
FT /evidence="ECO:0007829|PDB:1LV2"
FT STRAND 191..196
FT /evidence="ECO:0007829|PDB:1LV2"
FT STRAND 202..204
FT /evidence="ECO:0007829|PDB:1LV2"
FT TURN 210..212
FT /evidence="ECO:0007829|PDB:1LV2"
FT HELIX 213..222
FT /evidence="ECO:0007829|PDB:1LV2"
FT HELIX 224..230
FT /evidence="ECO:0007829|PDB:1LV2"
FT HELIX 234..245
FT /evidence="ECO:0007829|PDB:1LV2"
FT HELIX 256..275
FT /evidence="ECO:0007829|PDB:1LV2"
FT STRAND 277..280
FT /evidence="ECO:0007829|PDB:1LV2"
FT TURN 281..283
FT /evidence="ECO:0007829|PDB:1LV2"
FT HELIX 284..289
FT /evidence="ECO:0007829|PDB:1LV2"
FT HELIX 292..311
FT /evidence="ECO:0007829|PDB:1LV2"
FT HELIX 319..324
FT /evidence="ECO:0007829|PDB:1LV2"
FT TURN 325..327
FT /evidence="ECO:0007829|PDB:1LV2"
SQ SEQUENCE 408 AA; 45877 MW; C75410E10251AE9F CRC64;
MNTTDNGVNC LCAICGDRAT GKHYGASSCD GCKGFFRRSI RKSHVYSCRF SRQCVVDKDK
RNQCRYCRLR KCFRAGMKKE AVQNERDRIS TRRSTFDGSN IPSINTLAQA EVRSRQISVS
SPGSSTDINV KKIASIGDVC ESMKQQLLVL VEWAKYIPAF CELPLDDQVA LLRAHAGEHL
LLGATKRSMM YKDILLLGNN YVIHRNSCEV EISRVANRVL DELVRPFQEI QIDDNEYACL
KAIVFFDPDA KGLSDPVKIK NMRFQVQIGL EDYINDRQYD SRGRFGELLL LLPTLQSITW
QMIEQIQFVK LFGMVKIDNL LQEMLLGGAS NDGSHLHHPM HPHLSQDPLT GQTILLGPMS
TLVHADQIST PETPLPSPPQ GSGQEQYKIA ANQASVISHQ HLSKQKQL
