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Medical vocabulary: What does Hepatocyte Nuclear Factor 4 mean
Medical vocabulary: What does Hepatocyte Nuclear Factor 4 mean
Published: 2016/01/20
Channel: botcaster inc. bot
Gene Music using Protein Sequence of HNF4G "HEPATOCYTE NUCLEAR FACTOR 4, GAMMA"
Gene Music using Protein Sequence of HNF4G "HEPATOCYTE NUCLEAR FACTOR 4, GAMMA"
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Gene Music Using Protein Sequence of PTERIN-4 ALPHA-CARBINOLAMINE DEHYDRATASE/DIMERIZATION (PCBD1)
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Channel: Gene Music Studio
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Tuesday Group 37 - CBL2
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Medical vocabulary: What does Hepatocyte Nuclear Factors mean
Medical vocabulary: What does Hepatocyte Nuclear Factors mean
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Demystifying Medicine 2017: Hepatocellular Cancer and Liver Transplantation
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Medical vocabulary: What does Hepatocyte Nuclear Factor 1-beta mean
Medical vocabulary: What does Hepatocyte Nuclear Factor 1-beta mean
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Published: 2014/03/21
Channel: nihvcast
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Demystifying Medicine 2016: Non Alcoholic Fatty Liver Disease and Steato-Hepatitis (NAFLD/ NASH)
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Gene Music using Protein Sequence of BLZF1 "BASIC LEUCINE ZIPPER NUCLEAR FACTOR 1"
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Channel: Gene Music Studio
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Demystifying Medicine 2013 - New Hepatitis Viruses and an Old Persistent One
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Medical vocabulary: What does Fibroblast Growth Factor 4 mean
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Medical vocabulary: What does Receptor, Fibroblast Growth Factor, Type 4 mean
Medical vocabulary: What does Receptor, Fibroblast Growth Factor, Type 4 mean
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Medical vocabulary: What does Fibroblast Growth Factor 8 mean
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Gene Music using Protein Sequence of BCS1L "BC1 (UBIQUINOL-CYTOCHROME C REDUCTASE) SYNTHESIS-LIKE"
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Medical vocabulary: What does Triangular Fibrocartilage mean
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Medical vocabulary: What does Fibroblast Growth Factor 10 mean
Medical vocabulary: What does Fibroblast Growth Factor 10 mean
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Redox Biology 2014 - Signal Transduction, Redox Physiology
Redox Biology 2014 - Signal Transduction, Redox Physiology
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Gene Music using Protein Sequence of BECN1 "BECLIN 1, AUTOPHAGY RELATED"
Gene Music using Protein Sequence of BECN1 "BECLIN 1, AUTOPHAGY RELATED"
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Medical vocabulary: What does Odontogenic Tumor, Squamous mean
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Gene Music using Protein Sequence of BECN2 "BECLIN 2"
Gene Music using Protein Sequence of BECN2 "BECLIN 2"
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Medical vocabulary: What does Fibroblast Growth Factor 3 mean
Medical vocabulary: What does Fibroblast Growth Factor 3 mean
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Medical vocabulary: What does Fibroblast Growth Factor 6 mean
Medical vocabulary: What does Fibroblast Growth Factor 6 mean
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Gene Music using Protein Sequence of BEST3 "BESTROPHIN 3"
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Channel: Gene Music Studio
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Gene Music using Protein Sequence of BEND5 "BEN DOMAIN CONTAINING 5"
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WIKIPEDIA ARTICLE

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Hepatocyte nuclear factor 4 alpha
Identifiers
Symbol HNF4A
Alt. symbols TCF14, MODY, MODY1
Entrez 3172
HUGO 5024
OMIM 600281
PDB 1M7W
RefSeq NM_001030004
UniProt P41235
Other data
Locus Chr. 20 q12-20q13.1
Hepatocyte nuclear factor 4 gamma
Identifiers
Symbol HNF4G
Entrez 3174
HUGO 5026
OMIM 605966
PDB 1LV2
RefSeq NM_004133
UniProt Q14541
Other data
Locus Chr. 8 q21-q22

HNF4 (Hepatocyte Nuclear Factor 4) is a nuclear receptor protein mostly expressed in the liver, gut, kidney, and pancreatic beta cells that is critical for liver development. In humans, there are two isoforms of HNF4, HNF4α and HNF4γ, encoded by two separate genes HNF4A and HNF4G respectively.[1]

Ligands[edit]

HNF4 was originally classified as an orphan receptor that exhibits constitutive transactivation activity apparently by being continuously bound to a variety of fatty acids.[2][3] The existence of a ligand for HNF4 has been somewhat controversial, but linoleic acid (LA) has been identified as the endogenous ligand of native HNF4 expressed in mouse liver; the binding of LA to HNF4 is reversible.[4]

The ligand binding domain of HNF4, as with other nuclear receptors, adopts a canonical alpha helical sandwich fold[5][6] and interacts with co-activator proteins.[7]

HNF4 binds to the consensus sequence AGGTCAaAGGTCA in order to activate transcription.

Pathology[edit]

Mutations in the HNF4A gene have been linked to maturity onset diabetes of the young 1 (MODY1).[8]

This seems to be caused by HNF4-a's [1] role in the synthesis of SHBG, which is known to be severely diminished in patients with insulin-resistance.

See also[edit]

References[edit]

  1. ^ Chartier FL, Bossu JP, Laudet V, Fruchart JC, Laine B (1994). "Cloning and sequencing of cDNAs encoding the human hepatocyte nuclear factor 4 indicate the presence of two isoforms in human liver". Gene. 147 (2): 269–72. PMID 7926813. doi:10.1016/0378-1119(94)90079-5. 
  2. ^ Sladek F (August 2002). "Desperately seeking...something". Mol. Cell. 10 (2): 219–21. PMID 12191466. doi:10.1016/S1097-2765(02)00605-6. 
  3. ^ Jump DB, Botolin D, Wang Y, Xu J, Christian B, Demeure O (November 2005). "Fatty acid regulation of hepatic gene transcription". J. Nutr. 135 (11): 2503–6. PMID 16251601. 
  4. ^ Yuan X, Ta TC, Lin M, Evans JR, Dong Y, Bolotin E, Sherman MA, Forman BM, Sladek FM (2009). Laudet V, ed. "Identification of an endogenous ligand bound to a native orphan nuclear receptor". PLoS ONE. 4 (5): e5609. PMC 2680617Freely accessible. PMID 19440305. doi:10.1371/journal.pone.0005609. 
  5. ^ Wisely GB, Miller AB, Davis RG, Thornquest AD, Johnson R, Spitzer T, Sefler A, Shearer B, Moore JT, Miller AB, Willson TM, Williams SP (September 2002). "Hepatocyte nuclear factor 4 is a transcription factor that constitutively binds fatty acids". Structure. 10 (9): 1225–34. PMID 12220494. doi:10.1016/S0969-2126(02)00829-8. 
  6. ^ Dhe-Paganon S, Duda K, Iwamoto M, Chi YI, Shoelson SE (October 2002). "Crystal structure of the HNF4 alpha ligand binding domain in complex with endogenous fatty acid ligand". J. Biol. Chem. 277 (41): 37973–6. PMID 12193589. doi:10.1074/jbc.C200420200. 
  7. ^ Duda K, Chi YI, Shoelson SE (May 2004). "Structural basis for HNF-4alpha activation by ligand and coactivator binding". J. Biol. Chem. 279 (22): 23311–6. PMID 14982928. doi:10.1074/jbc.M400864200. 
  8. ^ Fajans SS, Bell GI, Polonsky KS (2001). "Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young". N Engl J Med. 345 (13): 971–80. PMID 11575290. doi:10.1056/NEJMra002168. 

External links[edit]


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