HNF1A

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HNF1A
Protein TCF1 PDB 1ic8.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases HNF1A, HNF-1A, HNF1, IDDM20, LFB1, MODY3, TCF-1, TCF1, HNF1 homeobox A
External IDs MGI: 98504 HomoloGene: 459 GeneCards: 6927
Genetically Related Diseases
Disease Name References
diabetes mellitus type 2
RNA expression pattern
PBB GE TCF1 210515 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000545
NM_001306179

NM_009327

RefSeq (protein)

NP_000536.5
NP_001293108.1
NP_000536.5
NP_001293108.1

NP_033353.2

Location (UCSC) Chr 12: 120.98 – 121 Mb Chr 5: 114.95 – 114.97 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

HNF1 homeobox A (hepatocyte nuclear factor 1 homeobox A), also known as HNF1A, is a human gene.[1][2]

The protein encoded by this gene is a transcription factor that is highly expressed in the liver and is involved in the regulation of the expression of several liver-specific genes.[3]

Clinical significance[edit]

HNF1A mutations can cause maturity onset diabetes of the young type 3, one of the forms of "monogenic diabetes",[2] as well as hepatocellular adenoma. HNF-1 protein is present in clear cell carcinoma of ovary [4][5]

Interactions[edit]

HNF1A has been shown to interact with:

See also[edit]

References[edit]

  1. ^ Szpirer C, Riviere M, Cortese R, Nakamura T, Islam MQ, Levan G, Szpirer J (Jun 1992). "Chromosomal localization in man and rat of the genes encoding the liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1 (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of the hepatocyte growth factor/scatter factor gene (HGF)". Genomics 13 (2): 293–300. doi:10.1016/0888-7543(92)90245-N. PMID 1535333. 
  2. ^ a b Vaxillaire M, Boccio V, Philippi A, Vigouroux C, Terwilliger J, Passa P, Beckmann JS, Velho G, Lathrop GM, Froguel P (Apr 1995). "A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q". Nature Genetics 9 (4): 418–23. doi:10.1038/ng0495-418. PMID 7795649. 
  3. ^ Courtois G, Morgan JG, Campbell LA, Fourel G, Crabtree GR (Oct 1987). "Interaction of a liver-specific nuclear factor with the fibrinogen and alpha 1-antitrypsin promoters". Science 238 (4827): 688–92. doi:10.1126/science.3499668. PMID 3499668. 
  4. ^ Köbel M, Kalloger SE, Carrick J, Huntsman D, Asad H, Oliva E, Ewanowich CA, Soslow RA, Gilks CB (Jan 2009). "A limited panel of immunomarkers can reliably distinguish between clear cell and high-grade serous carcinoma of the ovary". The American Journal of Surgical Pathology 33 (1): 14–21. doi:10.1097/PAS.0b013e3181788546. PMID 18830127. 
  5. ^ Offman SL, Longacre TA (Sep 2012). "Clear cell carcinoma of the female genital tract (not everything is as clear as it seems)". Advances in Anatomic Pathology 19 (5): 296–312. doi:10.1097/PAP.0b013e31826663b1. PMID 22885379. 
  6. ^ a b c d Soutoglou E, Papafotiou G, Katrakili N, Talianidis I (Apr 2000). "Transcriptional activation by hepatocyte nuclear factor-1 requires synergism between multiple coactivator proteins". The Journal of Biological Chemistry 275 (17): 12515–20. doi:10.1074/jbc.275.17.12515. PMID 10777539. 
  7. ^ Ban N, Yamada Y, Someya Y, Miyawaki K, Ihara Y, Hosokawa M, Toyokuni S, Tsuda K, Seino Y (May 2002). "Hepatocyte nuclear factor-1alpha recruits the transcriptional co-activator p300 on the GLUT2 gene promoter". Diabetes 51 (5): 1409–18. doi:10.2337/diabetes.51.5.1409. PMID 11978637. 
  8. ^ Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D. "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology 3: 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931. 
  9. ^ Sourdive DJ, Transy C, Garbay S, Yaniv M (Apr 1997). "The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity". Nucleic Acids Research 25 (8): 1476–84. doi:10.1093/nar/25.8.1476. PMC 146627. PMID 9092652. 
  10. ^ Hines RN, Luo Z, Cresteil T, Ding X, Prough RA, Fitzpatrick JL, Ripp SL, Falkner KC, Ge NL, Levine A, Elferink CJ (May 2001). "Molecular regulation of genes encoding xenobiotic-metabolizing enzymes: mechanisms involving endogenous factors". Drug Metabolism and Disposition 29 (5): 623–33. PMID 11302926. 
  11. ^ Rufibach LE, Duncan SA, Battle M, Deeb SS (Jul 2006). "Transcriptional regulation of the human hepatic lipase (LIPC) gene promoter". Journal of Lipid Research 47 (7): 1463–77. doi:10.1194/jlr.M600082-JLR200. PMID 16603721. 
  12. ^ a b Bulla GA, Kraus DM (Dec 2004). "Dissociation of the hepatic phenotype from HNF4 and HNF1alpha expression". Bioscience Reports 24 (6): 595–608. doi:10.1007/s10540-005-2794-8. PMID 16158197. 

Further reading[edit]

  • Eastman Q, Grosschedl R (Apr 1999). "Regulation of LEF-1/TCF transcription factors by Wnt and other signals". Current Opinion in Cell Biology 11 (2): 233–40. doi:10.1016/S0955-0674(99)80031-3. PMID 10209158. 
  • Bioulac-Sage P, Blanc JF, Rebouissou S, Balabaud C, Zucman-Rossi J (May 2007). "Genotype phenotype classification of hepatocellular adenoma". World Journal of Gastroenterology 13 (19): 2649–54. doi:10.3748/wjg.v13.i19.2649. PMID 17569132.