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Hnf1a
Gene Detail
Symbol

Name
ID
Hnf1a
HNF1 homeobox A
MGI:98504
Synonyms
hepatocyte nuclear factor 1, Hnf-1, HNF1, HNF1[a], Hnf1alpha, HNF1-alpha, LFB1, Tcf1
Feature Type
protein coding gene
Genetic Map
Chromosome 5
55.99 cM, cytoband F
Detailed Genetic Map ± 1 cM


Mapping data(19)
Sequence Map
Chr5:114948980-114971094 bp, - strand
From VEGA annotation of GRCm38

  22115 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:459  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: HNF1A
Protein SuperFamily: transcription factor HNF-1
Gene Tree: Hnf1a

Human
homologs
HNF1A, HNF1 homeobox A
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6927
neXtProt AC: NX_P20823

Human Synonyms: HNF1, HNF-1A, IDDM20, LFB1, MODY3, TCF1, TCF-1

Human Chr (Location): 12q24.2; chr12:120977787-121002512 (+)  GRCh38.p2

Disease Associations: (6) Diseases Associated with Human HNF1A

Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Gene trapped(7) Targeted(5) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF )
 
Most homozygous null mutants die at 3-6 weeks from progressive wasting syndrome, liver and renal dysfunction and type II diabetes. Mutants have little or no phenylalanine hydroxylase, albumin, alpha 1-antitrypsin and secreted insulin.
 
Human Diseases Modeled in Mice Using Hnf1a (4)    Mutations Annotated to Human Diseases (4)   
Interactions
Hnf1a interacts with 174 markers (Mir1b, Mir15a, Mir15b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (93 annotations)
Process bile acid and bile salt transport, bile acid biosynthetic process, ...
Component cell, cytoplasm, ...
Function DNA binding, double-stranded DNA binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (46 records)
Data Summary: Results (195)    Tissues (115)    Images (41)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 9
RNA in situ 102
Northern blot 17
RT-PCR 63
RNase protection 4
cDNA source data(34)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase hnf1a ; ZFIN hnf1a    NEW 
Molecular
reagents
All nucleic(46) cDNA(39) Primer pair(6) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000014612 (Evidence)
Ensembl Gene Model ENSMUSG00000029556 (Evidence)
Entrez Gene 21405 (Evidence)
UniGene 332607
DFCI TC1582906, TC1678171
NIA Mouse Gene Index U026615
PDB 1G2Y, 1G2Z, 1F93, 1G39, 1JB6
Consensus CDS Project CCDS19577.1
International Mouse Phenotyping Consortium Status Hnf1a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014612 VEGA Gene Model | MGI Sequence Detail 22115 C57BL/6J ±  kb
transcript OTTMUST00000034659 VEGA | MGI Sequence Detail 3191 Not Applicable 
polypeptide OTTMUSP00000015521 VEGA | MGI Sequence Detail 628 Not Applicable 

For the selected sequences
All sequences(37) RefSeq(4) UniProt(4)
Polymorphisms
RFLP(6) : SNPs within 2kb(111 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006898 Hepatocyte nuclear factor 1, alpha isoform C-terminal
InterPro IPR006897 Hepatocyte nuclear factor 1, beta isoform, C-terminal
InterPro IPR023219 Hepatocyte nuclear factor 1, dimerisation domain
InterPro IPR006899 Hepatocyte nuclear factor 1, N-terminal
InterPro IPR001356 Homeodomain
InterPro IPR009057 Homeodomain-like
InterPro IPR010982 Lambda repressor-like, DNA-binding domain
Protein Ontology PR:000008652 hepatocyte nuclear factor 1-alpha
References
(Earliest) J:10901 Kuo CJ, et al., Molecular cloning, functional expression, and chromosomal localization of mouse hepatocyte nuclear factor 1. Proc Natl Acad Sci U S A. 1990 Dec;87(24):9838-42
(Latest) J:212199 Zhang Q, et al., Alterations of epigenetic signatures in hepatocyte nuclear factor 4alpha deficient mouse liver determined by improved ChIP-qPCR and (h)MeDIP-qPCR assays. PLoS One. 2014;9(1):e84925
All references(151)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-10803, MGD-MRK-14747, MGD-MRK-14753, MGI:2140832

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory