GENE NAME | HNF1A |
CHROMOSOME | 12 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000135100 |
UNIPROT ACCESSION NUMBER | A0A0A0MQU7 |
GO MOLECULAR FUNCTION | ['DNA binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'transcription cis-regulatory region binding', 'protein binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'protein dimerization activity', 'DNA-binding transcription factor activity', 'DNA-binding transcription factor activity, RNA polymerase II-specific'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04950; hsa04950; R-HSA-1266738; R-HSA-186712; R-HSA-210745 |
4 combinations linked to HNF1A | OLI962; OLI203; OLI1027; OLI1721 |
4 variants linked to HNF1A | HNF1A:c.872dup, p.Gly292ArgfsTer25; HNF1A:c.872C>G, p.Pro291Arg; HNF1A:c.685C>T, p.Arg229Ter; HNF1A:c.872C>G, p.Pro291Arg |
1 disease linked to HNF1A | MODY |