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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
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
    7 experiments
Homology
more
  • Human Ortholog
    HIF1A, hypoxia inducible factor 1 alpha subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    HIF1A, hypoxia inducible factor 1 alpha subunit
    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

  • Chr Location
    14q23.2; chr14:61695401-61748259 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Hif1a mouse models

Human Disease Mouse Models
       Glycogen Storage Disease V; GSD5   OMIM: 232600 View 1 model
Glycogen Storage Disease VII; GSD7   OMIM: 232800 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
    279 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.
  • All Mutations and Alleles
    30
  • Chemically induced (other)
    1
  • Gene trapped
    12
  • Targeted
    14
  • Transgenic
    3
  • Genomic Mutations
    1 involving Hif1a
  • Incidental Mutations
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
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
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    300 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 59
    Genomic 21
    cDNA 30
    Primer pair 6
    Other 2

    Microarray probesets 7
Other
Accession IDs
less
MGD-MRK-35379, MGI:2144750
References
more
  • Summaries
    All 504
    Developmental Gene Expression 98
    Diseases 4
    Gene Ontology 56
    Phenotypes 279
  • 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:236191 Kapitsinou PP, et al., The Endothelial Prolyl-4-Hydroxylase Domain 2/Hypoxia-Inducible Factor 2 Axis Regulates Pulmonary Artery Pressure in Mice. Mol Cell Biol. 2016 May 15;36(10):1584-94

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory