KEGG   Homo sapiens (human): 9971
Entry
9971              CDS       T01001                                 
Symbol
NR1H4, BAR, FXR, HRR-1, HRR1, PFIC5, RIP14
Name
(RefSeq) nuclear receptor subfamily 1 group H member 4
  KO
K08537  farnesoid X receptor
Organism
hsa  Homo sapiens (human)
Pathway
hsa04976  Bile secretion
Disease
H00624  Progressive familial intrahepatic cholestasis
Drug target
Chenodeoxycholic acid: D00163<JP/US>
Cholic acid: D10699<JP/US>
Obeticholic acid: D09360<US>
Tropifexor: D11548
Turofexorate isopropyl: D08277
Ursodeoxycholic acid: D00734<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04976 Bile secretion
    9971 (NR1H4)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    9971 (NR1H4)
  09183 Protein families: signaling and cellular processes
   03310 Nuclear receptors [BR:hsa03310]
    9971 (NR1H4)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Zinc finger
   Cys4 thyroid hormone receptor-like
    9971 (NR1H4)
Nuclear receptors [BR:hsa03310]
 1. Thyroid hormone like
  1H. Liver X receptor like receptor
   9971 (NR1H4)
SSDB
Motif
Pfam: zf-C4 Hormone_recep
Other DBs
NCBI-GeneID: 9971
NCBI-ProteinID: NP_001193922
OMIM: 603826
HGNC: 7967
Ensembl: ENSG00000012504
UniProt: Q96RI1
Structure
Position
12:100473866..100564414
AA seq 486 aa
MVMQFQGLENPIQISPHCSCTPSGFFMEMMSMKPAKGVLTEQVAGPLGQNLEVEPYSQYS
NVQFPQVQPQISSSSYYSNLGFYPQQPEEWYSPGIYELRRMPAETLYQGETEVAEMPVTK
KPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAVYKCKNGGNCV
MDMYMRRKCQECRLRKCKEMGMLAECMYTGLLTEIQCKSKRLRKNVKQHADQTVNEDSEG
RDLRQVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLI
LTEMATNHVQVLVEFTKKLPGFQTLDHEDQIALLKGSAVEAMFLRSAEIFNKKLPSGHSD
LLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQYIKDREAVEK
LQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLC
EIWDVQ
NT seq 1461 nt   +upstreamnt  +downstreamnt
atggtaatgcagtttcaggggttagaaaatccaattcaaattagtcctcactgcagctgt
acgccgtcaggatttttcatggaaatgatgagtatgaagcccgcgaaaggtgttttaaca
gaacaagtggcaggtcctctgggacagaacctggaagtggaaccatactcgcaatacagc
aatgttcagtttccccaagttcaaccacagatttcctcgtcatcctattattccaacctg
ggtttctacccccagcagcctgaagagtggtactctcctggaatatatgaactcaggcgt
atgccagctgagactctctaccagggagaaactgaggtagcagagatgcctgtaacaaag
aagccccgcatgggcgcgtcagcagggaggatcaaaggggatgagctgtgtgttgtttgt
ggagacagagcctctggataccactataatgcactgacctgtgaggggtgtaaaggtttc
ttcaggagaagcattaccaaaaacgctgtgtacaagtgtaaaaacgggggcaactgtgtg
atggatatgtacatgcgaagaaagtgtcaagagtgtcgactaaggaaatgcaaagagatg
ggaatgttggctgaatgtatgtatacaggcttgttaactgaaattcagtgtaaatctaag
cgactgagaaaaaatgtgaagcagcatgcagatcagaccgtgaatgaagacagtgaaggt
cgtgacttgcgacaagtgacctcgacaacaaagtcatgcagggagaaaactgaactcacc
ccagatcaacagactcttctacattttattatggattcatataacaaacagaggatgcct
caggaaataacaaataaaattttaaaagaagaattcagtgcagaagaaaattttctcatt
ttgacggaaatggcaaccaatcatgtacaggttcttgtagaattcacaaaaaagctacca
ggatttcagactttggaccatgaagaccagattgctttgctgaaagggtctgcggttgaa
gctatgttccttcgttcagctgagattttcaataagaaacttccgtctgggcattctgac
ctattggaagaaagaattcgaaatagtggtatctctgatgaatatataacacctatgttt
agtttttataaaagtattggggaactgaaaatgactcaagaggagtatgctctgcttaca
gcaattgttatcctgtctccagatagacaatacataaaggatagagaggcagtagagaag
cttcaggagccacttcttgatgtgctacaaaagttgtgtaagattcaccagcctgaaaat
cctcaacactttgcctgtctcctgggtcgcctgactgaattacggacattcaatcatcac
cacgctgagatgctgatgtcatggagagtaaacgaccacaagtttaccccacttctctgt
gaaatctgggacgtgcagtga

  All links  
Disease (2)   
   OMIM (2)   
Gene (9)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (18)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (16)   
DNA sequence (53)   
   RefSeq(nuc) (17)   
   GenBank (18)   
   EMBL (18)   
3D Structure (86)   
   PDB (86)   
Protein domain (2)   
   Pfam (2)   
All databases (170)   

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