HNF1A - HNF1 homeobox A Gene
Also Known as HNF1; LFB1; TCF1; HNF4A; MODY3; TCF-1; HNF-1A; IDDM20; HNF1alpha; HNF-1-alpha
Species: Homo sapiens
About HNF1A
This gene has 13 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 110 phenotypes. Biased expression in kidney (RPKM 13.4), duodenum (RPKM 9.8) and 6 other tissues.
Summary
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]
HNF1A Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_000545.8 | NP_000536.6 | hepatocyte nuclear factor 1-alpha isoform 2 |
| NM_001306179.2 | NP_001293108.2 | hepatocyte nuclear factor 1-alpha isoform 1 |
| NM_001406915.1 | NP_001393844.1 | hepatocyte nuclear factor 1-alpha isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
1677179 | GOA |
| enables DNA-binding transcription factor activity |
IDA
IDA: Inferred from direct assay
|
1989880 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
1677179 | GOA |
| enables protein dimerization activity |
IPI
IPI: Inferred from physical interaction
|
12453420 | GOA |
| enables protein heterodimerization activity |
IDA
IDA: Inferred from direct assay
|
12530534 | GOA |
| enables protein homodimerization activity |
IPI
IPI: Inferred from physical interaction
|
1677179 | GOA |
| enables transcription cis-regulatory region binding |
IDA
IDA: Inferred from direct assay
|
12453420 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in D-glucose import |
IMP
IMP: Inferred from mutant phenotype
|
11269503 | GOA |
| involved in glucose homeostasis |
IMP
IMP: Inferred from mutant phenotype
|
11269503 | GOA |
| involved in insulin secretion |
IMP
IMP: Inferred from mutant phenotype
|
10333057 | GOA |
| involved in positive regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
1989880 | GOA |
| involved in positive regulation of transcription initiation by RNA polymerase II |
IGI
IGI: Inferred from genetic interaction
|
15355349 | GOA |
| NOT involved in regulation of pronephros size |
IMP
IMP: Inferred from mutant phenotype
|
15355349 | GOA |
| involved in regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
10330009 | GOA |
| involved in renal D-glucose absorption |
IMP
IMP: Inferred from mutant phenotype
|
11269503 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
12530534 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
12530534 | GOA |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
11980910 | GOA |
HNF1A Protein Structure
HNF-1_N: Hepatocyte nuclear factor 1 (HNF-1), N terminus (1 - 176)
Homeobox: Homeobox domain (200 - 273)
HNF-1B_C: Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus (282 - 541)
HNF-1A_C: Hepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus (573 - 661)
- 0
- 200
- 400
- 600
- 662 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
hepatocyte nuclear factor 1-alpha |
|
HNF1A Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
HNF1A | P20823 | DYRK1B | Homo sapiens | Q9Y463 | 11980910 | |
|
Intra
|
HNF1A | P20823 | DYRK1B | Homo sapiens | Q9Y463 | 14500717 | |
|
Intra
|
HNF1A | P20823 | PCBD1 | Homo sapiens | P61457 | 17353931 | |
|
Intra
|
HNF1A | P20823 | PCBD1 | Homo sapiens | P61457 | 35140242 | |
|
Intra
|
HNF1A | P20823 | PCBD1 | Homo sapiens | P61457 | 35140242 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
|
| Type 1 Diabetes Mellitus 20 |
|
|
| Hepatic Adenomas, Familial |
|
|
| Hyperinsulinism Due To Hnf1a Deficiency |
|
|
| Maturity-Onset Diabetes Of The Young |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Chromophobe Renal Cell Carcinoma |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Diabetes Mellitus |
|
|
| Monogenic Diabetes |
|
|
| Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
|
| Clear Cell Papillary Renal Cell Carcinoma |
|
|
| Hepatocellular Adenoma |
|
|
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
|
| Hyperglycemia |
|
|
| Liver Benign Neoplasm |
|
|
| Renal Cysts And Diabetes Syndrome |
|
|
| Aminoaciduria |
|
|
| Maturity-Onset Diabetes Of The Young, Type 1 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
|
| Glycogen Storage Disease |
|
|
| Gestational Diabetes |
|
|
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
|
| Insulinoma |
|
|
| Hepatoblastoma |
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
|
| Type 1 Diabetes Mellitus 11 |
|
|
| Hyperinsulinism |
|
|
| Breast Cancer |
|
|
| Prediabetes Syndrome |
|
|
| Hepatocellular Carcinoma |
|
|
| Glucose Intolerance |
|
|
| Hepatic Angiomyolipoma |
|
|
| Intrahepatic Bile Duct Adenoma |
|
|
| Renal Glucosuria |
|
|
| Pancreatic Agenesis |
|
|
| Glycogen Storage Disease Ia |
|
|
| Permanent Neonatal Diabetes Mellitus |
|
|
| Gastrointestinal System Benign Neoplasm |
|
|
| Colorectal Cancer |
|
|
| Endobronchial Lipoma |
|
|
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
|
| Fanconi Syndrome |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | HNF1A | RGD | RGD:3828 |
| Canis familiaris | HNF1A | VGNC | VGNC:41723 |
| Macaca mulatta | HNF1A | VGNC | VGNC:99941 |
| Felis catus | HNF1A | VGNC | VGNC:62825 |
| Bos taurus | HNF1A | VGNC | VGNC:29889 |
| Mus musculus | HNF1A | MGD | MGI:98504 |
| Others | HNF1A | NCBI |