KEGG   Homo sapiens (human): 9971
Entry
9971              CDS       T01001                                 

Gene name
NR1H4, BAR, FXR, HRR-1, HRR1, PFIC5, RIP14
Definition
(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<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
Vega: OTTHUMG00000170359
Pharos: Q96RI1(Tclin)
UniProt: Q96RI1
Structure
PDB: 

Position
12q23.1
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

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (6)   
   KEGG DRUG (6)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (12)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (47)   
   RefSeq(nuc) (11)   
   GenBank (18)   
   EMBL (18)   
Protein domain (2)   
   Pfam (2)   
All databases (87)   

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