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Hnf1a Gene Detail
Summary
  • Symbol
    Hnf1a
  • Name
    HNF1 homeobox A
  • Synonyms
    hepatocyte nuclear factor 1, Hnf-1, HNF1, HNF1[a], Hnf1alpha, HNF1-alpha, LFB1, Tcf1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98504
    NCBI Gene: 21405
  • Gene Overview
    MyGene.info: HNF1A
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr5:114948980-114971094 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      22115 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 55.99 cM, cytoband F
  • Mapping Data
    19 experiments
Homology
more
  • Human Ortholog
    HNF1A, HNF1 homeobox A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HNF1A, HNF1 homeobox A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HNF1, HNF-1A, HNF4A, IDDM20, LFB1, MODY3, TCF1, TCF-1
  • Links
    NCBI Gene ID: 6927
    neXtProt AC: NX_P20823
    UniProt: P20823

  • Chr Location
    12q24.31; chr12:120978515-121002512 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    3 with Hnf1a mouse models; 5 with human HNF1A associations

Human Disease Mouse Models
      
IDs
View 3 models
IDs
View 1 model
      
IDs
View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    52 phenotypes from 4 alleles in 3 genetic backgrounds
    14 phenotypes from multigenic genotypes
    40 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      110 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      cDNA 39
      Primer pair 6
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10803, MGD-MRK-14747, MGD-MRK-14753, MGI:2140832
    References
    more
    • Summaries
      All 195
      Developmental Gene Expression 51
      Diseases 4
      Gene Ontology 49
      Phenotypes 40
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:254864 Jeevan-Raj B, et al., The Transcription Factor Tcf1 Contributes to Normal NK Cell Development and Function by Limiting the Expression of Granzymes. Cell Rep. 2017 Jul 18;20(3):613-626

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory