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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
  • Gene Overview
    MyGene.info: HIF1A
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr12:73901375-73947530 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      46156 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 31.99 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    HIF1A, hypoxia inducible factor 1 subunit alpha
  • Vertebrate Orthologs
    9
  • Human Ortholog
    HIF1A, hypoxia inducible factor 1 subunit alpha
    Orthology source: HomoloGene, HGNC
  • 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; chr14:61695401-61748259 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Hif1a mouse models

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    169 phenotypes from 11 alleles in 19 genetic backgrounds
    45 phenotypes from multigenic genotypes
    320 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.
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
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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 OTTMUSG00000019740 VEGA Gene Model | MGI Sequence Detail 46156 C57BL/6J ±  kb
    transcript OTTMUST00000047239 VEGA | MGI Sequence Detail 4724 Not Applicable  
    polypeptide OTTMUSP00000021321 VEGA | MGI Sequence Detail 836 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      300 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 60
      Genomic 21
      cDNA 30
      Primer pair 7
      Other 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-35379, MGI:2144750
    References
    more
    • Summaries
      All 679
      Developmental Gene Expression 111
      Diseases 4
      Gene Ontology 57
      Phenotypes 320
    • 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:259999 Meng X, et al., Hypoxia-inducible factor-1alpha is a critical transcription factor for IL-10-producing B cells in autoimmune disease. Nat Commun. 2018 Jan 17;9(1):251

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