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  3. HNF1A

HNF1A (HNF1 homeobox A)

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Summary of HNF1A

This gene encodes a protein that is a transcription factor required for the expression of several liver-specific genes. This gene is associated with diabetes (R).

0 users want this gene increased, 0 users want it decreased

The Function of HNF1A

Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.

Protein names

Recommended name:

Hepatocyte nuclear factor 1-alpha

Short name:

LFB1

Alternative name(s):

HNF-1-alpha
HNF-1A
Liver-specific transcription factor LF-B1
Transcription factor 1
TCF-1

HNF1A SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1169286 (HNF1A) ??
  2. RS1169288 (HNF1A) ??
  3. RS1169300 (HNF1A) ??
  4. RS1169305 (HNF1A) ??
  5. RS1169310 (HNF1A) ??
  6. RS1183910 (HNF1A) ??
  7. RS12427353 (HNF1A) ??
  8. RS2244608 (HNF1A) ??
  9. RS2259816 (HNF1A) ??
  10. RS2393791 (HNF1A) ??
  11. RS2464196 (HNF1A) ??
  12. RS7310409 (HNF1A) ??
  13. RS735396 (HNF1A) ??
  14. RS7979473 (HNF1A) ??

Top Gene-Substance Interactions

Substances That Increase HNF1A

Substances Interaction Organism Category

Substances That Decrease HNF1A

Substances Interaction Organism Category

Advanced Summary

     Covered on Genetics Home Reference: congenital hyperinsulinismtype 1 diabetesFrom NCBI Gene: Maturity-onset diabetes of the young, type 3Diabetes mellitus, insulin-dependent, 20Diabetes mellitus type 2Hepatic adenomas, familialRenal cell carcinoma, nonpapillaryDiabetes mellitus type 1From UniProt: Maturity-onset diabetes of the young 3 (MODY3): A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. [MIM:600496] Hepatic adenomas familial (HEPAF): Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3). [MIM:142330] Diabetes mellitus, insulin-dependent, 20 (IDDM20): A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. [MIM:612520]

     From NCBI Gene: The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] From UniProt: Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • NF-kappaB
  • CUTL1
  • NF-kappaB1
  • C/EBPalpha
  • HNF-4alpha1
  • HNF-4alpha2
  • SREBP-1a
  • YY1
  • SREBP-1c
  • SREBP-1b

Tissue specificity:

Liver.

Molecular Function:

  • Dna Binding
  • Protein Dimerization Activity
  • Protein Heterodimerization Activity
  • Protein Homodimerization Activity
  • Rna Polymerase Ii Regulatory Region Sequence-Specific Dna Binding
  • Transcriptional Activator Activity, Rna Polymerase Ii Core Promoter Proximal Region Sequence-Specific Binding
  • Transcription Factor Activity, Sequence-Specific Dna Binding
  • Transcription Regulatory Region Dna Binding

Biological Processes:

  • Glucose Homeostasis
  • Glucose Import
  • Insulin Secretion
  • Positive Regulation Of Transcription, Dna-Templated
  • Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
  • Positive Regulation Of Transcription Initiation From Rna Polymerase Ii Promoter
  • Regulation Of Transcription From Rna Polymerase Ii Promoter
  • Renal Glucose Absorption
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| transcription factor 1| af244934-22s| albumin proximal factor| Anapl_02183| AS27_09005| AS28_08530| CB1_000340058| EH28_01625| GW7_02126| H920_14962| hepatic nuclear factor 1| hepatic nuclear factor-1-alpha| hepatic nuclear factor (HNF1)| hepatocyte nuclear factor 1| hepatocyte nuclear factor 1 alpha| hepatocyte nuclear factor 1-alpha| Hnf-1| HNF1| hnf1-a| HNF1[a]| HNF-1A| hnf1a-a| hnf1a-b| Hnf1alpha| HNF-1alpha| HNF-1-alpha| HNF1-alpha| HNFAL| I79_010330| IDDM20| interferon production regulator factor| LFB1| LF-B1| LF-B1, hepatic nuclear factor (HNF1): albumin proximal factor, also TCF1| liver-specific transcription factor LF-B1| M959_05977| MDA_GLEAN10018099| MODY3| N301_16412| N302_15478| N303_08744| N305_04682| N306_12511| N307_14070| N308_10040| N309_13405| N311_01389| N312_07038| N320_10613| N321_11597| N322_10564| N324_03255| N325_08618| N326_12604| N327_08084| N328_10625| N329_06526| N330_06302| N332_12478| N335_07446| N336_10903| N340_10875| N341_09933| PAL_GLEAN10010797| sHNF1| tcf1| TCF-1| Transcription factor 1, hepatic| transcription factor 1, hepatic isoform 3-like protein| transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor| TREES_T100018639| UY3_08704| XLFB1| XLFB1a| XLFB1b| xx:af244934-22s| Y1Q_023409| Y956_15763| Z169_14561| hnf1a

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