Human Gene HNF1A (ENST00000257555.11_8) from GENCODE V47lift37
  Description: Nucleus (from UniProt A0A0A0MQU7)
Gencode Transcript: ENST00000257555.11_8
Gencode Gene: ENSG00000135100.19_10
Transcript (Including UTRs)
   Position: hg19 chr12:121,416,346-121,440,315 Size: 23,970 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr12:121,416,572-121,438,995 Size: 22,424 Coding Exon Count: 10 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathways
Other NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:121,416,346-121,440,315)mRNA (may differ from genome)Protein (631 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedUniProtKBWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HNF1A
Diseases sorted by gene-association score: diabetes mellitus, insulin-dependent, 20* (1331), mody, type iii* (1300), hepatic adenoma, somatic* (1019), diabetes mellitus, insulin-dependent* (1006), renal cell carcinoma* (709), monogenic diabetes* (418), hyperinsulinism due to hnf1a deficiency* (350), maturity-onset diabetes of the young* (302), renal clear cell carcinoma* (283), diabetes mellitus, noninsulin-dependent* (114), clear cell papillary renal cell carcinoma* (25), hyperglycemia (23), hepatocellular adenoma (17), maturity-onset diabetes of the young 6 (14), hepatocellular carcinoma (14), aminoaciduria (10), chromophobe renal cell carcinoma* (10), diabetes mellitus, insulin-dependent, 11 (7), hepatoblastoma (7), polycystic kidney disease 4, with or without hepatic disease (5), corneal dystrophy, posterior polymorphous, 3 (4), gestational diabetes (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.55 RPKM in Liver
Total median expression: 18.65 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -99.90226-0.442 Picture PostScript Text
3' UTR -589.701320-0.447 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Descriptions from all associated GenBank mRNAs
  X71346 - Homo sapiens HNF1-B mRNA.
HM116541 - Homo sapiens HNF1 alpha A splice variant 1 (HNF1A) mRNA, complete cds, alternatively spliced.
HM116542 - Homo sapiens HNF1 alpha A splice variant 2 (HNF1A) mRNA, complete cds, alternatively spliced.
HM116543 - Homo sapiens HNF1 alpha A splice variant 3 (HNF1A) mRNA, complete cds, alternatively spliced.
HM116544 - Homo sapiens HNF1 alpha A splice variant 4 (HNF1A) mRNA, complete cds, alternatively spliced.
HM116545 - Homo sapiens HNF1 alpha A splice variant 5 (HNF1A) mRNA, complete cds, alternatively spliced.
HM116546 - Homo sapiens HNF1 alpha A splice variant 6 (HNF1A) mRNA, complete cds, alternatively spliced.
HM116547 - Homo sapiens HNF1 alpha A splice variant 7 (HNF1A) mRNA, complete cds, alternatively spliced.
HM116548 - Homo sapiens HNF1 alpha A splice variant 8 (HNF1A) mRNA, complete cds, alternatively spliced.
HM116549 - Homo sapiens HNF1 alpha A splice variant 8 (HNF1A) mRNA, partial sequence.
HM116550 - Homo sapiens HNF1 alpha A splice variant 10 (HNF1A) mRNA, partial sequence.
HM116551 - Homo sapiens HNF1 alpha A splice variant 11 (HNF1A) mRNA, partial sequence.
X71347 - H.sapiens HNF1-C mRNA.
HM116552 - Homo sapiens HNF1 alpha C splice variant 1 (HNF1A) mRNA, complete cds, alternatively spliced.
HM116557 - Homo sapiens HNF1 alpha B splice variant 1 (HNF1A) mRNA, complete cds, alternatively spliced.
HM116558 - Homo sapiens HNF1 alpha B splice variant 2 (HNF1A) mRNA, complete cds, alternatively spliced.
HM116559 - Homo sapiens HNF1 alpha B splice variant 3 (HNF1A) mRNA, complete cds, alternatively spliced.
HM116560 - Homo sapiens HNF1 alpha B splice variant 4 (HNF1A) mRNA, complete sequence.
HM116561 - Homo sapiens HNF1 alpha B splice variant 6 (HNF1A) mRNA, complete cds, alternatively spliced.
HM116562 - Homo sapiens HNF1 alpha B splice variant 7 (HNF1A) mRNA, partial sequence.
HM116563 - Homo sapiens HNF1 alpha B splice variant 5 (HNF1A) mRNA, complete cds, alternatively spliced.
AK298422 - Homo sapiens cDNA FLJ56500 complete cds, highly similar to Hepatocyte nuclear factor 1-alpha.
M57732 - Human hepatic nuclear factor 1 (TCF1) mRNA, complete cds, clones HCL10, HCL12, HCL17, and HCL20.
HM449088 - Homo sapiens HNF1A homeobox A insIVS8 (HNF1A) mRNA, complete cds.
HM449089 - Homo sapiens HNF1A homeobox A delta 2 (HNF1A) mRNA, complete cds.
BC143483 - Homo sapiens cDNA clone IMAGE:9051991.
BC104908 - Homo sapiens HNF1 homeobox A, mRNA (cDNA clone MGC:132568 IMAGE:8143911), complete cds.
BC104910 - Homo sapiens HNF1 homeobox A, mRNA (cDNA clone MGC:132570 IMAGE:8143913), complete cds.
AB527468 - Synthetic construct DNA, clone: pF1KB7864, Homo sapiens HNF1A gene for HNF1 homeobox A, without stop codon, in Flexi system.
EU446660 - Synthetic construct Homo sapiens clone IMAGE:100069800; IMAGE:100011869; FLH258602.01L transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor (TCF1) gene, encodes complete protein.
JD384877 - Sequence 365901 from Patent EP1572962.
JD393439 - Sequence 374463 from Patent EP1572962.
JD399269 - Sequence 380293 from Patent EP1572962.
JD140437 - Sequence 121461 from Patent EP1572962.
JD325786 - Sequence 306810 from Patent EP1572962.
JD232221 - Sequence 213245 from Patent EP1572962.
JD084612 - Sequence 65636 from Patent EP1572962.
JD151403 - Sequence 132427 from Patent EP1572962.
JD402503 - Sequence 383527 from Patent EP1572962.
JD151356 - Sequence 132380 from Patent EP1572962.
JD439384 - Sequence 420408 from Patent EP1572962.
JD114199 - Sequence 95223 from Patent EP1572962.
JD222848 - Sequence 203872 from Patent EP1572962.
JD457587 - Sequence 438611 from Patent EP1572962.
JD389061 - Sequence 370085 from Patent EP1572962.
JD385944 - Sequence 366968 from Patent EP1572962.
JD132346 - Sequence 113370 from Patent EP1572962.
JD518312 - Sequence 499336 from Patent EP1572962.
JD333869 - Sequence 314893 from Patent EP1572962.
JD260389 - Sequence 241413 from Patent EP1572962.
JD159464 - Sequence 140488 from Patent EP1572962.
JD326653 - Sequence 307677 from Patent EP1572962.
JD483326 - Sequence 464350 from Patent EP1572962.
JD102688 - Sequence 83712 from Patent EP1572962.
JD480169 - Sequence 461193 from Patent EP1572962.
JD140218 - Sequence 121242 from Patent EP1572962.
JD287974 - Sequence 268998 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ghPathway - Growth Hormone Signaling Pathway
h_wntPathway - WNT Signaling Pathway
h_ps1Pathway - Presenilin action in Notch and Wnt signaling
h_hesPathway - Segmentation Clock
h_malPathway - Role of MAL in Rho-Mediated Activation of SRF
h_alkPathway - ALK in cardiac myocytes

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0A0MQU7, A0A0A0MQU7_HUMAN, ENST00000257555.1, ENST00000257555.10, ENST00000257555.2, ENST00000257555.3, ENST00000257555.4, ENST00000257555.5, ENST00000257555.6, ENST00000257555.7, ENST00000257555.8, ENST00000257555.9, HNF1A , NM_001406915, uc317fyn.1, uc317fyn.2
UCSC ID: ENST00000257555.11_8
RefSeq Accession: NM_000545.8

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene HNF1A:
hi (Nonsyndromic Genetic Hyperinsulinism Overview)
mody-ov (Maturity-Onset Diabetes of the Young Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.