Swiss-Prot entry
ID NR1H4_HUMAN STANDARD; PRT; 486 AA.
AC Q96RI1; Q8NFP5; Q8NFP6; Q92943;
DT 28-FEB-2003 (Rel. 41, Created)
DT 05-JUL-2004 (Rel. 44, Last sequence update)
DT 01-MAY-2005 (Rel. 47, Last annotation update)
DE Bile acid receptor (Farnesoid X-activated receptor) (Farnesol receptor
DE HRR-1) (Retinoid X receptor-interacting protein 14) (RXR-interacting
DE protein 14).
GN Name=NR1H4; Synonyms=BAR, FXR, HRR1, RIP14;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE (ISOFORM 3).
RA Papetti M., Wood N., Lohmar P.D., Bowman M.R.;
RT "The identification of the cDNA coding for HRR-1, a novel human
RT farnesol receptor.";
RL Submitted (AUG-1996) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE (ISOFORM 4).
RA Han J.-I., Bok S.-H., Jeong T.-S.;
RT "Functional analysis of human farnesol receptor (NR1H4) splicing
RT variant.";
RL Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE (ISOFORMS 1 AND 2).
RX MEDLINE=22057885; PubMed=12062799 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/S0378-1119(02)00557-7;
RA Huber R.M., Murphy K., Miao B., Link J.R., Cunningham M.R.,
RA Rupar M.J., Gunyuzlu P.L., Haws T.F. Jr., Kassam A., Powell F.,
RA Hollis G.F., Young P.R., Mukherjee R., Burn T.C.;
RT "Generation of multiple farnesoid-X-receptor isoforms through the use
RT of alternative promoters.";
RL Gene 290:35-43(2002).
RN [4]
RP FUNCTION.
RX MEDLINE=99269275; PubMed=10334992 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1126/science.284.5418.1362;
RA Makishima M., Okamoto A.Y., Repa J.J., Tu H., Learned R.M., Luk A.,
RA Hull M.V., Lustig K.D., Mangelsdorf D.J., Shan B.;
RT "Identification of a nuclear receptor for bile acids.";
RL Science 284:1362-1365(1999).
RN [5]
RP FUNCTION.
RX MEDLINE=99269276; PubMed=10334993 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1126/science.284.5418.1365;
RA Parks D.J., Blanchard S.G., Bledsoe R.K., Chandra G., Consler T.G.,
RA Kliewer S.A., Stimmel J.B., Willson T.M., Zavacki A.M., Moore D.D.,
RA Lehmann J.M.;
RT "Bile acids: natural ligands for an orphan nuclear receptor.";
RL Science 284:1365-1368(1999).
CC -!- FUNCTION: Receptor for bile acids such as chenodeoxycholic acid,
CC lithocholic acid and deoxycholic acid. Repress the transcription
CC of the cholesterol 7-alpha-hydroxylase gene (CYP7A1) and activates
CC the intestinal bile acid-binding protein (IBABP).
CC -!- SUBUNIT: Heterodimer of NR1H4 and RXR.
CC -!- SUBCELLULAR LOCATION: Nuclear (Probable).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q96RI1-3; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96RI1-4; Sequence=VSP_003665;
CC Name=3;
CC IsoId=Q96RI1-1; Sequence=VSP_010135;
CC Name=4;
CC IsoId=Q96RI1-2; Sequence=VSP_010135, VSP_003665;
CC -!- SIMILARITY: Belongs to the nuclear hormone receptor family. NR1
CC subfamily.
CC -!- SIMILARITY: Contains 1 nuclear receptor DNA-binding domain.
CC --------------------------------------------------------------------------
CC This Swiss-Prot entry is copyright. It is produced through a collaboration
CC between the Swiss Institute of Bioinformatics and the EMBL outstation -
CC the European Bioinformatics Institute. There are no restrictions on its
CC use as long as its content is in no way modified and this statement is not
CC removed.
CC --------------------------------------------------------------------------
DR EMBL; U68233; AAB08107.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; AF384555; AAK60271.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; AF478445; AAM53550.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; AF478446; AAM53551.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR PDB; 1OSH; X-ray; A=245-476. [ExPASy / RCSB]
DR SMR; Q96RI1; 135-224, 258-485.
DR TRANSFAC; T04498; -.
DR Ensembl; ENSG00000012504; Homo_sapiens
DR Genew; HGNC:7967; NR1H4.
DR CleanEx; HGNC:7967; NR1H4.
DR MIM; 603826; -. [NCBI / EBI]
DR GeneCards; NR1H4.
DR GeneLynx; NR1H4.
DR GenAtlas; NR1H4.
DR SOURCE; NR1H4.
DR InterPro; IPR000536; Hormone_rec_lig.
DR InterPro; IPR001723; Stdhrmn_receptor.
DR InterPro; IPR008946; Str_ncl_receptor.
DR InterPro; IPR001628; Znf_C4steroid.
DR InterPro; Graphical view of domain structure.
DR Pfam; PF00104; Hormone_recep; 1.
DR Pfam; PF00105; zf-C4; 1.
DR Pfam; Graphical view of domain structure.
DR PRINTS; PR00398; STRDHORMONER.
DR PRINTS; PR00047; STROIDFINGER.
DR PRINTS; PR00350; VITAMINDR.
DR ProDom; PD000035; Znf_C4steroid; 1.
DR ProDom [Domain structure / List of seq. sharing at least 1 domain ]
DR SMART; SM00430; HOLI; 1.
DR SMART; SM00399; ZnF_C4; 1.
DR PROSITE; PS00031; NUCLEAR_REC_DBD_1; 1.
DR PROSITE; PS51030; NUCLEAR_REC_DBD_2; 1.
DR CMR; Q96RI1.
DR HOVERGEN [Family / Alignment / Tree]
DR BLOCKS; Q96RI1.
DR ProtoNet; Q96RI1.
DR ProtoMap; Q96RI1.
DR PRESAGE; Q96RI1.
DR DIP; Q96RI1.
DR ModBase; Q96RI1.
DR SWISS-2DPAGE; GET REGION ON 2D PAGE.
KW 3D-structure; Activator; Alternative splicing; DNA-binding;
KW Nuclear protein; Receptor; Repressor; Transcription;
KW Transcription regulation; Zinc-finger.
FT DNA_BIND 134 209 Nuclear receptor-type.
FT ZN_FING 137 157 C4-type.
FT ZN_FING 173 197 C4-type.
FT DOMAIN 256 474 Ligand-binding (Potential).
FT VARSPLIC 1 36 MVMQFQGLENPIQISPHCSCTPSGFFMEMMSMKPAK -> M
FT GSKMNLIEHSHLPTTDEFSFSENLF (in isoform 3
FT and isoform 4).
FT /FTId=VSP_010135.
FT VARSPLIC 207 210 Missing (in isoform 2 and isoform 4).
FT /FTId=VSP_003665.
SQ SEQUENCE 486 AA; 55914 MW; C23283576A8CF76B CRC64;
MVMQFQGLEN PIQISPHCSC TPSGFFMEMM SMKPAKGVLT EQVAGPLGQN LEVEPYSQYS
NVQFPQVQPQ ISSSSYYSNL GFYPQQPEEW YSPGIYELRR MPAETLYQGE TEVAEMPVTK
KPRMGASAGR IKGDELCVVC GDRASGYHYN ALTCEGCKGF FRRSITKNAV YKCKNGGNCV
MDMYMRRKCQ ECRLRKCKEM GMLAECMYTG LLTEIQCKSK RLRKNVKQHA DQTVNEDSEG
RDLRQVTSTT KSCREKTELT PDQQTLLHFI MDSYNKQRMP QEITNKILKE EFSAEENFLI
LTEMATNHVQ VLVEFTKKLP GFQTLDHEDQ IALLKGSAVE AMFLRSAEIF NKKLPSGHSD
LLEERIRNSG ISDEYITPMF SFYKSIGELK MTQEEYALLT AIVILSPDRQ YIKDREAVEK
LQEPLLDVLQ KLCKIHQPEN PQHFACLLGR LTELRTFNHH HAEMLMSWRV NDHKFTPLLC
EIWDVQ
//