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HNF1A information


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: ENSG00000135100 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029556 – Ensembl, 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, Szpirer J (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, Beckmann JS, Velho G, Lathrop GM, Froguel P (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).

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HNF1A

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Gliclazide

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MODY 3

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MODY 3 or HNF1A-MODY is a form of maturity-onset diabetes of the young. It is caused by mutations of the HNF1-alpha gene, a homeobox gene on human chromosome...

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TCF

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and Spain TCF Financial Corporation, a holding company TCF Bank TCF-1 or HNF1A, a gene TCF4 or TCF7L2, a protein transcription factor TCF/LEF family of...

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Homeobox

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POU6F2 CERS-class: LASS2, LASS3, LASS4, LASS5, LASS6; HNF-class: HMBOX1; HNF1A, HNF1B; SINE-class: SIX1, SIX2, SIX3, SIX4, SIX5, SIX6 CUT-class: ONECUT1...

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List of human transcription factors

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ENSG00000188620 Homeodomain Known motif – High-throughput in vitro [366] TAAKTG HNF1A ENSG00000135100 Homeodomain Known motif – High-throughput in vitro [367]...

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MODY 1

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transcription factor 14 (TCF14). HNF4α controls function of HNF1α (see MODY 3; HNF1A) and perhaps HNF1β (MODY 5) as well. This transcription network plays a...

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Chromosome 12

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Golgi transport 1B GPN3: encoding enzyme GPN-loop GTPase 3 HNF1A-AS1: encoding protein HNF1A antisense RNA 1 HPD: 4-hydroxyphenylpyruvate dioxygenase IFFO1:...

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PCAF

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PCAF. PCAF has been shown to interact with: BRCA2, CTNNB1, CREBBP, EVI1, HNF1A, IRF1, IRF2, KLF13, Mdm2 Myc, NCOA1, POLR2A, RBPJ, TCF3, TRRAP, and TWIST1...

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Genetic causes of type 2 diabetes

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NOTCH2, WFS1, IGF2BP2, SLC30A8, JAZF1, HHEX, DGKB, CDKN2A, CDKN2B, KCNQ1, HNF1A, HNF1B MC4R, GIPR, HNF4A, MTNR1B, PPARG, ZBED3, SLC30A8, CDKAL1, GLIS3,...

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Glucokinase regulator

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(November 2007). "Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young". Diabetologia. 50 (11): 2313–7...

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Hepatocyte nuclear factors

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PMID 11463573. Hepatocyte nuclear factor 1A bound to DNA [1] Different rendering of HNF1a bound to DNA Hepatocyte+Nuclear+Factors at the U.S. National Library of...

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couple of genes of interest in Japanese populations. These genes are ADCY5, HNF1A, PRC1 that exhibited this monoallelic effect in Japanese populations and...

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secretory lineage 16230531 HES1 Hes1 Commitment to absorptive lineage 10615124 HNF1A HNF1-α Regulates terminal differentiation of enterocytes and secretory cells...

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PCBD1

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tetrahydrobiopterin deficiency. PCBD1 has been shown to interact with DYRK1B and HNF1A. GRCh38: Ensembl release 89: ENSG00000166228 – Ensembl, May 2017 GRCm38:...

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EP300

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CEBPB, CITED1, CITED2, DDX5, DTX1, EID1, ELK1, ESR1, FEN1, GPS2, HIF1A, HNF1A, HNRPU, ING4, ING5, IRF2, LEF1, MAF, MAML1, MEF2C, MEF2D, MYBL2, Mdm2, MyoD...

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RAC3

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activation of protein kinases. RAC3 has been shown to interact with CIB1 and HNF1A. RAC3 also interacts with Nrf2 proteins. ETAR, ILK, and β-arr1 interact...

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HNF1B

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form heterodimers with another member of this transcription factor family, HNF1A; depending on the HNF1B isoform, the result may be to activate or inhibit...

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List of OMIM disorder codes

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insulin-dependent, 2; 125852; INS Diabetes mellitus, insulin-dependent, 20; 612520; HNF1A Diabetes mellitus, insulin-resistant, with acanthosis nigricans; 610549;...

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