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Hnf1a Gene Detail
Summary
  • Symbol
    Hnf1a
  • Name
    HNF1 homeobox A
  • Synonyms
    hepatocyte nuclear factor 1, Hnf-1, HNF1, HNF1[a], HNF1-alpha, Hnf1alpha, LFB1, Tcf1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98504
    NCBI Gene: 21405
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:115087039-115109121 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 55.99 cM, cytoband F
  • Mapping Data
    19 experiments
Strain
Comparison
more
  • SNPs within 2kb
    713 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    6
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98504
 protein coding gene Chr5:115087039-115109153 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029954
 protein coding gene Chr5:117761409-117783274 (-)
A/J MGP_AJ_G0029919
 protein coding gene Chr5:113100878-113123401 (-)
AKR/J MGP_AKRJ_G0029857
 protein coding gene Chr5:116702775-116723207 (-)
BALB/cJ MGP_BALBcJ_G0029930
 protein coding gene Chr5:114496023-114519821 (-)
C3H/HeJ MGP_C3HHeJ_G0029649
 protein coding gene Chr5:117226741-117249794 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030384
 protein coding gene Chr5:122313975-122336607 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027611
 protein coding gene Chr5:107893189-107916917 (-)
CAST/EiJ MGP_CASTEiJ_G0029058
 protein coding gene Chr5:116137244-116158631 (-)
CBA/J MGP_CBAJ_G0029617
 protein coding gene Chr5:126975011-127008037 (-)
DBA/2J MGP_DBA2J_G0029767
 protein coding gene Chr5:113181217-113201845 (-)
FVB/NJ MGP_FVBNJ_G0029723
 protein coding gene Chr5:111992635-112015439 (-)
LP/J MGP_LPJ_G0029855
 protein coding gene Chr5:118335163-118362974 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029754
 protein coding gene Chr5:131343816-131374854 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030425
 protein coding gene Chr5:116176329-116201281 (-)
PWK/PhJ MGP_PWKPhJ_G0028771
 protein coding gene Chr5:111829456-111851633 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028609
 protein coding gene Chr5:113722775-113745905 (-)
WSB/EiJ MGP_WSBEiJ_G0029133
 protein coding gene Chr5:116761395-116786625 (-)



Homology
more
  • Human Ortholog
    HNF1A, HNF1 homeobox A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HNF1A, HNF1 homeobox A
  • Synonyms
    HNF1, HNF-1A, HNF-1-alpha, HNF1alpha, HNF4A, IDDM20, LFB1, MODY3, TCF-1, TCF1
  • Links
    NCBI Gene ID: 6927
    neXtProt AC: NX_P20823
    UniProt: P20823

  • Chr Location
    12q24.31; chr12:120978543-121002512 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Hnf1a mouse models; 15 with human HNF1A associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    63 phenotypes from 4 alleles in 3 genetic backgrounds
    50 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
less
  • All GO Annotations
    123
  • GO References
    51
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    935
  • Tissues
    129
  • cDNA Data
    37
  • Literature Summary
    61
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21405 NCBI Gene Model | MGI Sequence Detail 22083 C57BL/6J ±  kb
    transcript NM_009327 RefSeq | MGI Sequence Detail 3203 ZRU/MplStud  
    polypeptide P22361 UniProt | EBI | MGI Sequence Detail 628 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 52
      cDNA 42
      Primer pair 8
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10803, MGD-MRK-14747, MGD-MRK-14753, MGI:2140832
    References
    more
    • Summaries
      All 201
      Developmental Gene Expression 61
      Diseases 2
      Gene Ontology 51
      Phenotypes 50
    • 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:342895 Chu Y, et al., Lysine 117 Residue Is Essential for the Function of the Hepatocyte Nuclear Factor 1alpha. Diabetes. 2023 Oct 1;72(10):1502-1516
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory