HNF1A
Ensembl | |||||||||
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UniProt | |||||||||
RefSeq (mRNA) | |||||||||
RefSeq (protein) | |||||||||
Location (UCSC) | Chr 12: 120.98 – 121 Mb | Chr 5: 115.09 – 115.11 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
HNF1 homeobox A (hepatocyte nuclear factor 1 homeobox A), also known as HNF1A, is a human
Structure
Gene
The HNF1A gene resides on chromosome 12 at the band 12q24.2 and contains 10
Protein
This protein belongs to the HNF1
Function
HNF-1α is a
Clinical significance
HNF1A mutations can cause
In humans, mutations in HNF1A cause diabetes that responds to low dose
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
See also
- Hepatocyte nuclear factors
- Maturity onset diabetes of the young
- Other HNF class homeoboxes:
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000135100 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029556 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 1535333.
- ^ S2CID 665243.
- ^ a b "HNF1A HNF1 homeobox A [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-10-11.
- ^ "BioGPS - your Gene Portal System". biogps.org. Retrieved 2016-10-11.
- PMID 3499668.
- ^ S2CID 34914098.
- ^ PMID 25748612.
- ^ "Homo sapiens HNF1 homeobox A (HNF1A), RefSeqGene (LRG_522) on chromosome 12". 13 June 2021.
- ^ a b "HNF1A - Hepatocyte nuclear factor 1-alpha - Homo sapiens (Human) - HNF1A gene & protein". www.uniprot.org. Retrieved 2016-10-11.
- ^ PMID 12453420.
- ^ PMID 16930618.
- PMID 26413797.
- PMID 20808783.
- PMID 20388655.
- PMID 26800876.
- PMID 23300881.
- PMID 24100303.
- PMID 16781669.
- S2CID 24464350.
- S2CID 22640762.
- PMID 23922447.
- S2CID 85192269.
- PMID 25793983.
- S2CID 11919671.
- S2CID 19610205.
- S2CID 33159622.
- PMID 27432078.
- S2CID 20405132.
- ^ "The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY"
- ^ PMID 10777539.
- PMID 11978637.
- PMID 17353931.
- PMID 9092652.
- PMID 7744010.
- S2CID 22528806.
- PMID 11302926.
- PMID 16603721.
- ^ S2CID 55553843.
Further reading
- Eastman Q, Grosschedl R (April 1999). "Regulation of LEF-1/TCF transcription factors by Wnt and other signals". Current Opinion in Cell Biology. 11 (2): 233–40. 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. PMID 17569132.