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Hif1a hypoxia inducible factor 1, alpha subunit [ Mus musculus (house mouse) ]

Gene ID: 15251, updated on 2-Nov-2024

Summary

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Official Symbol: Hif1aprovided by MGI
Official Full Name: hypoxia inducible factor 1, alpha subunitprovided by MGI
Primary source: MGI:MGI:106918
See related: Ensembl:ENSMUSG00000021109 AllianceGenome:MGI:106918
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MOP1; bHLHe78; HIF1alpha; HIF1-alpha; HIF-1-alpha
Summary: This gene encodes the alpha subunit which, along with the beta subunit, forms a heterodimeric transcription factor that regulates the cellular and developmental response to reduced oxygen tension. The transcription factor has been shown to regulate genes involved in several biological processes, including erythropoiesis and angiogenesis which aid in increased delivery of oxygen to hypoxic regions. The transcription factor also plays a role in the induction of genes involved in cell proliferation and survival, energy metabolism, apoptosis, and glucose and iron metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
Expression: Ubiquitous expression in placenta adult (RPKM 31.3), limb E14.5 (RPKM 21.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

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See Hif1a in Genome Data Viewer

Location:: 12 C3; 12 31.99 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (73948186..73994304)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (73901324..73947554)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TRPA1 Influences Staphylococcus aureus Skin Infection in Mice and Associates with HIF-1a and MAPK Pathway Modulation.
Title: TRPA1 Influences Staphylococcus aureus Skin Infection in Mice and Associates with HIF-1a and MAPK Pathway Modulation.
ER Stress and Mitochondrial Perturbations Regulate Cell Death in Retinal Detachment: Exploring the Role of HIF1alpha.
Title: ER Stress and Mitochondrial Perturbations Regulate Cell Death in Retinal Detachment: Exploring the Role of HIF1α.
UCHL1-dependent control of hypoxia-inducible factor transcriptional activity during liver fibrosis.
Title: UCHL1-dependent control of hypoxia-inducible factor transcriptional activity during liver fibrosis.
HIF1 activation safeguards cortical bone formation against impaired oxidative phosphorylation.
Title: HIF1 activation safeguards cortical bone formation against impaired oxidative phosphorylation.
Differential impact of sex on regulation of skeletal muscle mitochondrial function and protein homeostasis by hypoxia-inducible factor-1alpha in normoxia.
Title: Differential impact of sex on regulation of skeletal muscle mitochondrial function and protein homeostasis by hypoxia-inducible factor-1α in normoxia.
Hepatic BMAL1 and HIF1alpha regulate a time-dependent hypoxic response and prevent hepatopulmonary-like syndrome.
Title: Hepatic BMAL1 and HIF1α regulate a time-dependent hypoxic response and prevent hepatopulmonary-like syndrome.
Differential but complementary roles of HIF-1alpha and HIF-2alpha in the regulation of bone homeostasis.
Title: Differential but complementary roles of HIF-1α and HIF-2α in the regulation of bone homeostasis.
HIV coinfection exacerbates HBV-induced liver fibrogenesis through a HIF-1alpha- and TGF-beta1-dependent pathway.
Title: HIV coinfection exacerbates HBV-induced liver fibrogenesis through a HIF-1α- and TGF-β1-dependent pathway.
HIF-1alpha limits myocardial infarction by promoting mitophagy in mouse hearts adapted to chronic hypoxia.
Title: HIF-1α limits myocardial infarction by promoting mitophagy in mouse hearts adapted to chronic hypoxia.
Oxygen and HIF1alpha-dependent SDF1 expression in primary astrocytes.
Title: Oxygen and HIF1α-dependent SDF1 expression in primary astrocytes.

Submit: New GeneRIF Correction See all GeneRIFs (1076)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (13) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_6691-6694:992007331:1 (e-PCR)
- UniSTS:231249

MARC_6693-6692:992007336:1 (e-PCR)
- UniSTS:231250

PMC316445P1 (e-PCR)
- UniSTS:272993

Hif1a (e-PCR), detects polymorphism
- UniSTS:499123

X95580 (e-PCR)
- UniSTS:125897

AA959795 (e-PCR)
- UniSTS:160213

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
contributes_to DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription repressor activity	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription repressor activity	ISO Inferred from Sequence Orthology more info
enables E-box binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables Hsp90 protein binding	IEA Inferred from Electronic Annotation more info
enables Hsp90 protein binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IGI Inferred from Genetic Interaction more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables nuclear receptor binding	IEA Inferred from Electronic Annotation more info
enables nuclear receptor binding	ISO Inferred from Sequence Orthology more info
enables p53 binding	IEA Inferred from Electronic Annotation more info
enables p53 binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein kinase binding	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator binding	ISS Inferred from Sequence or Structural Similarity more info
enables transcription regulator activator activity	IEA Inferred from Electronic Annotation more info
enables transcription regulator activator activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within B-1 B cell homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonal transport of mitochondrion	ISO Inferred from Sequence Orthology more info
involved_in axonal transport of mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cardiac ventricle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to hypoxia	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to hypoxia	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to hypoxia	ISO Inferred from Sequence Orthology more info
involved_in cellular response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to interleukin-1	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxidative stress	ISO Inferred from Sequence Orthology more info
involved_in cellular response to virus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to virus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in connective tissue replacement involved in inflammatory response wound healing	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within digestive tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dopaminergic neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within dopaminergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in elastin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic placenta development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cell differentiation involved in mammary gland alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glandular epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glandular epithelial cell maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hemoglobin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hypoxia-inducible factor-1alpha signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of insulin secretion involved in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intestinal epithelial cell maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular glucose homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within intracellular iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular oxygen homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular oxygen homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within iris morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in iron import into the mitochondrion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lactate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lactation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of mesenchymal cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle cell cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of mesenchymal cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of miRNA transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of miRNA transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of reactive oxygen species biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of thymocyte apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of vasoconstriction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural crest cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural fold elevation formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuroblast proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of blood vessel endothelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of blood vessel endothelial cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of chemokine-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of positive regulation of chemokine-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cytokine production involved in inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cytokine production involved in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of endothelial cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gluconeogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of hormone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of hormone biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of macroautophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of miRNA transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of miRNA transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of neuroblast proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of signaling receptor activity	IEA Inferred from Electronic Annotation more info
acts_upstream_of positive regulation of signaling receptor activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of smooth muscle cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of sprouting angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of stress granule assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vascular endothelial growth factor production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vascular endothelial growth factor production	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of vascular endothelial growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular wound healing	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info	PubMed
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of catalytic activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of glycolytic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of glycolytic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of glycolytic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein neddylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein neddylation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of thymocyte apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transforming growth factor beta2 production	IEA Inferred from Electronic Annotation more info
involved_in regulation of transforming growth factor beta2 production	ISO Inferred from Sequence Orthology more info
involved_in response to fungicide	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to hypoxia	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to hypoxia	ISO Inferred from Sequence Orthology more info	PubMed
involved_in response to hypoxia	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to iron ion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to muscle activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to reactive oxygen species	ISO Inferred from Sequence Orthology more info
involved_in response to reactive oxygen species	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within retina vasculature development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	ISO Inferred from Sequence Orthology more info
involved_in vascular endothelial growth factor production	IEA Inferred from Electronic Annotation more info
involved_in vascular endothelial growth factor production	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within vasculature development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within visual learning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IEA Inferred from Electronic Annotation more info
part_of RNA polymerase II transcription regulator complex	ISO Inferred from Sequence Orthology more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in euchromatin	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: hypoxia-inducible factor 1-alpha

Names: ARNT-interacting protein

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001313919.2 → NP_001300848.1 hypoxia-inducible factor 1-alpha isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC124712

UniProtKB/TrEMBL

Q3UCW2

Conserved Domains (6) summary

smart00091
Location:94 → 149

PAS; PAS domain

cd00083
Location:16 → 69

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cd00130
Location:240 → 339

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam08447
Location:255 → 340

PAS_3; PAS fold

pfam08778
Location:800 → 836

HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain

pfam11413
Location:565 → 594

HIF-1; Hypoxia-inducible factor-1
NM_001313920.2 → NP_001300849.1 hypoxia-inducible factor 1-alpha isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) has an alternate 5' structure, which results in the use of a downstream start codon, and uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC124712

Consensus CDS

CCDS83968.1

UniProtKB/TrEMBL

A0A0R4J1E9, Q3UCW2

Related

ENSMUSP00000106088.2, ENSMUST00000110461.8

Conserved Domains (6) summary

smart00091
Location:81 → 136

PAS; PAS domain

cd00083
Location:3 → 56

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cd00130
Location:227 → 326

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam08447
Location:242 → 327

PAS_3; PAS fold

pfam08778
Location:773 → 809

HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain

pfam11413
Location:538 → 567

HIF-1; Hypoxia-inducible factor-1
NM_001422141.1 → NP_001409070.1 hypoxia-inducible factor 1-alpha isoform 4

Status: VALIDATED

Source sequence(s)

AC124712
NM_001422142.1 → NP_001409071.1 hypoxia-inducible factor 1-alpha isoform 5

Status: VALIDATED

Source sequence(s)

AC124712
NM_001422143.1 → NP_001409072.1 hypoxia-inducible factor 1-alpha isoform 6

Status: VALIDATED

Source sequence(s)

AC124712
NM_010431.3 → NP_034561.2 hypoxia-inducible factor 1-alpha isoform 2

See identical proteins and their annotated locations for NP_034561.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC124712

Consensus CDS

CCDS25977.1

UniProtKB/Swiss-Prot

O08741, O08993, Q61221, Q61664, Q61665, Q8C681, Q8CC19, Q8CCB6, Q8R385, Q9CYA8

UniProtKB/TrEMBL

Q3UCW2

Related

ENSMUSP00000021530.8, ENSMUST00000021530.8

Conserved Domains (6) summary

smart00091
Location:93 → 148

PAS; PAS domain

cd00083
Location:15 → 68

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cd00130
Location:239 → 338

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam08447
Location:254 → 339

PAS_3; PAS fold

pfam08778
Location:799 → 835

HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain

pfam11413
Location:564 → 593

HIF-1; Hypoxia-inducible factor-1