About   Help   FAQ
Due to maintenance, access to MGI may be intermittent starting at 7:30AM ET on Friday, September 29.
Hif1a Gene Detail
Summary
  • Symbol
    Hif1a
  • Name
    hypoxia inducible factor 1, alpha subunit
  • Synonyms
    bHLHe78, HIF1alpha, HIF-1alpha, MOP1
  • Feature Type
    protein coding gene
  • IDs
    MGI:106918
    NCBI Gene: 15251
  • Alliance
    gene page
  • Transcription Start Sites
    20 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:73948149-73994304 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 31.99 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    300 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_106918
 protein coding gene Chr12:73948098-73994328 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019840
 protein coding gene Chr12:73853001-73890619 (+)
A/J MGP_AJ_G0019798
 protein coding gene Chr12:71080122-71119567 (+)
AKR/J MGP_AKRJ_G0019773
 protein coding gene Chr12:73221560-73261185 (+)
BALB/cJ MGP_BALBcJ_G0019778
 protein coding gene Chr12:71559315-71598947 (+)
C3H/HeJ MGP_C3HHeJ_G0019583
 protein coding gene Chr12:73687518-73726741 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020230
 protein coding gene Chr12:76126794-76167943 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017848
 protein coding gene Chr12:68519698-68559210 (+)
CAST/EiJ MGP_CASTEiJ_G0019135
 protein coding gene Chr12:68468141-68507271 (+)
CBA/J MGP_CBAJ_G0019553
 protein coding gene Chr12:79072334-79112047 (+)
DBA/2J MGP_DBA2J_G0019669
 protein coding gene Chr12:70966729-71006860 (+)
FVB/NJ MGP_FVBNJ_G0019656
 protein coding gene Chr12:69810835-69850277 (+)
LP/J MGP_LPJ_G0019741
 protein coding gene Chr12:73854528-73900722 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019695
 protein coding gene Chr12:82153592-82193470 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020265
 protein coding gene Chr12:72717376-72756718 (+)
PWK/PhJ MGP_PWKPhJ_G0018900
 protein coding gene Chr12:65293378-65331889 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018695
 protein coding gene Chr12:67158105-67203030 (+)
WSB/EiJ MGP_WSBEiJ_G0019186
 protein coding gene Chr12:73313050-73353168 (+)



Homology
more
  • Human Ortholog
    HIF1A, hypoxia inducible factor 1 subunit alpha
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HIF1A, hypoxia inducible factor 1 subunit alpha
  • Synonyms
    bHLHe78, HIF1, HIF-1A, HIF-1alpha, HIF-1-alpha, HIF1-ALPHA, MOP1, PASD8
  • Links
    NCBI Gene ID: 3091
    neXtProt AC: NX_Q16665
    UniProt: Q16665

  • Chr Location
    14q23.2; chr14:61695513-61748259 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Hif1a mouse models; 4 with human HIF1A associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    177 phenotypes from 9 alleles in 21 genetic backgrounds
    42 phenotypes from multigenic genotypes
    526 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null mutants die during embryonic development with severe cardiovascular malformations, neural tube defects, cephalic defects, reduced somite number and increased hypoxia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    200
  • GO References
    58
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
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
non-membrane-bounded 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
    1112
  • Tissues
    235
  • cDNA Data
    26
  • Literature Summary
    168
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021109 Ensembl Gene Model | MGI Sequence Detail 46156 C57BL/6J ±  kb
    transcript ENSMUST00000021530 Ensembl | MGI Sequence Detail 4724 Not Applicable  
    polypeptide ENSMUSP00000021530 Ensembl | MGI Sequence Detail 836 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 67
      Genomic 21
      cDNA 31
      Primer pair 11
      Other 4

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-35379, MGI:2144750
    References
    more
    • Summaries
      All 1012
      Developmental Gene Expression 168
      Diseases 3
      Gene Ontology 58
      Phenotypes 526
    • Earliest
      J:12228 Obara N, et al., Expression of neural cell adhesion molecule (NCAM) during the first molar development in the mouse. Anat Embryol (Berl). 1993 Mar;187(3):209-19
    • Latest
      J:340099 Jia A, et al., Hippo Kinase MST1-Mediated Cell Metabolism Reprograms the Homeostasis and Differentiation of Granulocyte Progenitor Cells. J Immunol. 2023 Jul 1;211(1):91-102
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    09/19/2023
    MGI 6.22     		The Jackson Laboratory