HNF1A

HNF1A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHNF1A, HNF-1A, HNF1, IDDM20, LFB1, MODY3, TCF-1, TCF1, HNF1 homeobox A, HNF4A, HNF1alpha
External IDsOMIM: 142410; MGI: 98504; HomoloGene: 459; GeneCards: HNF1A; OMA:HNF1A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000545
NM_001306179

NM_009327

RefSeq (protein)

NP_000536
NP_001293108
NP_000536.5
NP_001293108.1

NP_033353

Location (UCSC)Chr 12: 120.98 – 121 MbChr 5: 115.09 – 115.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

HNF1 homeobox A (hepatocyte nuclear factor 1 homeobox A), also known as HNF1A, is a human gene on chromosome 12.[5][6][7] It is ubiquitously expressed in many tissues and cell types.[8] 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.[9] Mutations in the HNF1A gene have been known to cause diabetes.[10] The HNF1A gene also contains a SNP associated with increased risk of coronary artery disease.[11]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000135100Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029556Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Szpirer C, Riviere M, Cortese R, Nakamura T, Islam MQ, Levan G, et al. (June 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.
  6. ^ Vaxillaire M, Boccio V, Philippi A, Vigouroux C, Terwilliger J, Passa P, et al. (April 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. S2CID 665243.
  7. ^ Cite error: The named reference :5 was invoked but never defined (see the help page).
  8. ^ "BioGPS - your Gene Portal System". biogps.org. Retrieved 2016-10-11.
  9. ^ Courtois G, Morgan JG, Campbell LA, Fourel G, Crabtree GR (October 1987). "Interaction of a liver-specific nuclear factor with the fibrinogen and alpha 1-antitrypsin promoters". Science. 238 (4827): 688–92. Bibcode:1987Sci...238..688C. doi:10.1126/science.3499668. PMID 3499668.
  10. ^ Cite error: The named reference :0 was invoked but never defined (see the help page).
  11. ^ Cite error: The named reference :1 was invoked but never defined (see the help page).