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

Chr5:114948361-114971067 bp, - strand From VEGA annotation of GRCm38   22707 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 zebrafish

Protein SuperFamily: transcription factor HNF-1
Gene Tree: Hnf1a

Human homologs

Human Homolog		HNF1A, HNF1 homeobox A
NCBI Gene ID		6927
neXtProt AC		NX_P20823
Human Synonyms		HNF1, HNF-1A, IDDM20, LFB1, MODY3, TCF1, TCF-1
Human Chr (Location)		12q24.2; chr12:121416549-121440315 (+)  GRCh37.p10
Disease Associations		(6) Diseases Associated with Human HNF1A

Alleles and phenotypes

All alleles(12) : Targeted(5) Gene trapped(7)
 

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 Using Mouse Hnf1a (4)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (86 annotations)

Process	bile acid and bile salt transport, bile acid biosynthetic process, ...
Component	cytoplasm, nucleus, ...
Function	DNA binding, double-stranded DNA binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (44 records)
Data Summary: Results (207)    Tissues (120)    Images (40)
Theiler Stages: 2, 3, 4, 5, 9, 11, 12, 13, 14, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 28

Assay Type	Results
Immunohistochemistry	8
RNA in situ	102
Northern blot	17
RT-PCR	72
RNase protection	8

cDNA source data(34)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Hnf1a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000014612	VEGA Gene Model | MGI Sequence Detail	22707	C57BL/6J
transcript	OTTMUST00000034659	VEGA | MGI Sequence Detail	3810	Not Applicable
polypeptide	OTTMUSP00000015521	VEGA | MGI Sequence Detail	628	Not Applicable

All sequences(33) RefSeq(2) UniProt(4)

Polymorphisms

RFLP(6) : SNPs(34 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194050 Massa F, et al., Hepatocyte nuclear factor 1beta controls nephron tubular development. Development. 2013 Feb;140(4):886-96
All references(149)

Other accession IDs

MGD-MRK-10803, MGD-MRK-14747, MGD-MRK-14753, MGI:2140832