HNF1A

Source: Wikipedia, the free encyclopedia.
HNF1A
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
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

diabetes.[10] The HNF1A gene also contains a SNP associated with increased risk of coronary artery disease.[11]

Structure

Gene

The HNF1A gene resides on chromosome 12 at the band 12q24.2 and contains 10

Protein

This protein belongs to the HNF1

heterodimerization of HNF-1α. The resulting dimer contains a rigid “mini-zipper”, comprising α-helices 1 and 1′, linked by a non-canonical tight turn to a flexible C-terminal comprising α-helices 2 and 2′.[15]

Function

HNF-1α is a

Clinical significance

HNF1A mutations can cause

In humans, mutations in HNF1A cause diabetes that responds to low dose

hypoglycemic effects of sulphonylureas. The cause of hyperglycemia appears to alter the response to hypoglycemic drugs. Accordingly, HNF-1α-induced diabetes has marked sulphonylurea sensitivity. This pharmacogenetic effect is consistent with models of HNF-1α deficiency, and the genetic basis of hyperglycemia may have implications for patient management.[10] Common genetic variation within HNF1A is also associated with risk of developing type 2 diabetes and increased penetrance of early-onset diabetes[33]

Clinical marker

A multi-locus genetic risk score study based on a combination of 27 loci, including the HNF1A gene, identified individuals at increased risk for both incident and recurrent coronary artery disease events, as well as an enhanced clinical benefit from statin therapy. The study was based on a community cohort study (the Malmo Diet and Cancer study) and four additional randomized controlled trials of primary prevention cohorts (JUPITER and ASCOT) and secondary prevention cohorts (CARE and PROVE IT-TIMI 22).[11]

Interactions

HNF1A has been shown to

interact
with:

See also

References

  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. PMID 1535333
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  6. ^ .
  7. ^ a b "HNF1A HNF1 homeobox A [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-10-11.
  8. ^ "BioGPS - your Gene Portal System". biogps.org. Retrieved 2016-10-11.
  9. PMID 3499668
    .
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  12. ^ "Homo sapiens HNF1 homeobox A (HNF1A), RefSeqGene (LRG_522) on chromosome 12". 13 June 2021.
  13. ^ a b "HNF1A - Hepatocyte nuclear factor 1-alpha - Homo sapiens (Human) - HNF1A gene & protein". www.uniprot.org. Retrieved 2016-10-11.
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    PMID 12453420
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  33. ^ "The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY"
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    PMID 10777539
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Further reading

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