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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| HNF1A | 6927 | HNF1 homeobox A  | 12 | HNF1; LFB1; TCF1; MODY3; TCF-1; HNF-1A; IDDM20  |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 12730871    | 2003 | Cell line : - Source : - Sample Type : CRC tumor and normal tissue No. of Sample : 10 adenomas and 29 colon cancers Stage : - | DNA Sequencing | Mutation | - | Three mutations in microsatellite instability high (MSI-H) tumors were found in the exon 4 polymorphic poly-cytosin (C)(8) or (C)(9) tract and consisted of a cytosin deletion at position 291. The (C)(9) allele was significantly more frequently mutated than the (C)(8) allele, showing a higher instability of the longer repetition. |
Gene Details

| Gene Type | protein coding |
|---|---|
| Gene Family | Homeoboxes / HNF class |
| Description | 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. [provided by RefSeq, Mar 2009]   |
| Chromosome | 12 |
| Location | 12q24.2 |
| Start | 120977787   |
| End | 121002512   |
| Strand | +   |
| Gene Sequence |    Download   Select all |
| Length | 24726   |
| OMIM ID | 142410    |
| HGNC ID | HGNC:11621    |
| Unigene ID | Hs.654455     |
| Ensembl ID | ENSG00000135100    |
| PharmGKB ID | PA36380    |
mRNA Information
| mRNA ID | XM_005253931.2 |
|---|---|
| Exon | join(1..1308,11047..11246,15734..15920,16378..16619, 18476..18627,18755..18956,19688..19879,21482..21841, 23279..24719)   | mRNA Sequence |    Download   Select all |
| Length | 4284   |
CDS Information
| Location | join(983..1308,11047..11246,15734..15920,16378..16619, 18476..18627,18755..18956,19688..19879,21482..21841, 23279..23406) |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | - |    
Protein Information
| Protein ID | XP_005253988.1 |
|---|---|
| Protein Name | HNF1 homeobox A |
| Molecular Wt. (Da) | 70560 |
| Protein Sequence |    Download   Select all |
| Length | 662   |
| Uniprot ID | P17844 |    
| Ensembl Protein ID | ENSP00000225792   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 247 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING)      View   
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 213 |    ALB |    62 |    NP_000468.1 |    in vitro |    2460858    |
| 613 |    BCR |    1044 |    NP_004318.3 |    in vivo |    16442529    |
| 1050 |    CEBPA |    296 |    NP_004355.2 |    in vitro |    8288579    |
| 1499 |    CTNNB1 |    286 |    NP_001895.1 |    in vivo |    121   072   631   126   654   000   000   000    |
| 5092 |    PCBD1 |    523 |    NP_000272.1 |    in vitro;in vivo;yeast 2-hybrid |    9092652    |
| 6774 |    STAT3 |    26 |    NP_644805.1 |    in vivo |    11134330    |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Maturity onset diabetes of the young |    hsa04950 |    
| Signaling pathways regulating pluripotency of stem cells |    hsa04550 |    
Structure Information
| PDB ID | 1IC8 |
|---|---|
| Resolution | 2.6 |
| Method | X-RAY DIFFRACTION |
| Chains | E   |
| Molecule | 5'-D(*CP*TP*TP*GP*GP*TP*TP*AP*AP*TP*AP*AP*TP*TP*CP*AP*CP*CP*AP*GP*A)-3'   |
| Model | View |
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00086 | 200-273  | homeodomain |
| cl00084 | 200-273  | homeodomain superfamily |
| pfam04812 | 282-541  | HNF-1B_C |
| cl04770 | 282-541  | HNF-1B_C superfamily |
| pfam04813 | 542-630  | HNF-1A_C |
| cl04771 | 542-630  | HNF-1A_C superfamily |
| smart00389 | 199-273  | HOX |
| pfam00046 | 200-272  | Homeobox |
| pfam04814 | 1-176  | HNF-1_N |
| pfam05109 | 323-574  | Herpes_BLLF1 |
Ontology Information
| HPRD ID | 518 |    
|---|---|
| Molecular Class | Transcription factor |
| Molecular Function | Oxidoreductase activity (GO:0016491) |
| Biological Process | Synaptic transmission (GO:0007268); Xenobiotic metabolism (GO:0006805)   |
Drug Information
No matching records could be found.
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    
