Search results:


General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
HNF1A 6927 HNF1 homeobox A  12HNF1; 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   2003Cell line : -

Source : -

Sample Type : CRC tumor and normal tissue

No. of Sample : 10 adenomas and 29 colon cancers

Stage : -

DNA SequencingMutation-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



Chromosome: 12; NC_000012.11 (121416549..121440315)

View Larger Image
   
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 IDXP_005253988.1
Protein NameHNF1 homeobox A
Molecular Wt. (Da)70560
Protein Sequence

   Download   Select all

Length 662  
Uniprot IDP17844
Ensembl Protein ID ENSP00000225792  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation247

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
213ALB62NP_000468.1in vitro2460858   
613BCR1044NP_004318.3in vivo16442529   
1050CEBPA296NP_004355.2in vitro8288579   
1499CTNNB1286NP_001895.1in vivo121   072   631   126   654   000   000   000   
5092PCBD1523NP_000272.1in vitro;in vivo;yeast 2-hybrid9092652   
6774STAT326NP_644805.1in vivo11134330   


Pathway Information


            
Pathway Name Pathway ID
Maturity onset diabetes of the young hsa04950
Signaling pathways regulating pluripotency of stem cells hsa04550


Structure Information


PDB ID1IC8
Resolution2.6
MethodX-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
cd00086200-273  homeodomain
cl00084200-273  homeodomain superfamily
pfam04812282-541  HNF-1B_C
cl04770282-541  HNF-1B_C superfamily
pfam04813542-630  HNF-1A_C
cl04771542-630  HNF-1A_C superfamily
smart00389199-273  HOX
pfam00046200-272  Homeobox
pfam048141-176  HNF-1_N
pfam05109323-574  Herpes_BLLF1


Ontology Information


   
HPRD ID518
Molecular ClassTranscription factor
Molecular FunctionOxidoreductase activity (GO:0016491)
Biological ProcessSynaptic transmission (GO:0007268); Xenobiotic metabolism (GO:0006805)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO