Hif3a hypoxia inducible factor 3, alpha subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hif3aprovided by MGI
Official Full Name: hypoxia inducible factor 3, alpha subunitprovided by MGI
Primary source: MGI:MGI:1859778
See related: Ensembl:ENSMUSG00000004328 AllianceGenome:MGI:1859778
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: Ipas; MOP7; NEPAS; bHLHe17
Summary: Enables DNA binding activity and DNA-binding transcription factor activity. Acts upstream of or within response to hypoxia and transcription by RNA polymerase II. Located in mitochondrion and nuclear speck. Is expressed in several structures, including central nervous system; genitourinary system; and lung. Orthologous to human HIF3A (hypoxia inducible factor 3 subunit alpha). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in limb E14.5 (RPKM 8.5), liver E18 (RPKM 7.7) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 9.15 cM; 7 A2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (16764918..16796352, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (17030993..17062427, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

HIF3A gene disruption causes abnormal alveoli structure and early neonatal death.
Title: HIF3A gene disruption causes abnormal alveoli structure and early neonatal death.
Genetic variants of the hypoxia-inducible factor 3 alpha subunit (Hif3a) gene in the Fat and Lean mouse selection lines.
Title: Genetic variants of the hypoxia-inducible factor 3 alpha subunit (Hif3a) gene in the Fat and Lean mouse selection lines.
Hypoxia inducible factor-3alpha promotes osteosarcoma progression by activating KDM3A-mediated demethylation of SOX9.
Title: Hypoxia inducible factor-3α promotes osteosarcoma progression by activating KDM3A-mediated demethylation of SOX9.
Berberine improves insulin resistance in adipocyte models by regulating the methylation of hypoxia-inducible factor-3alpha.
Title: Berberine improves insulin resistance in adipocyte models by regulating the methylation of hypoxia-inducible factor-3α.
downregulated in psoriasiform dermatitis
Title: Psoriasis-like skin inflammation is reduced in transgenic mice overexpressing inhibitory PAS domain protein.
Phosphorylation of inhibitory PAS domain protein (IPAS) at Ser184 by MAPK-activated protein kinase 2 (MK2 or MAPKAPK2) enhances the proapoptotic function of IPAS.
Title: Increase in proapoptotic activity of inhibitory PAS domain protein via phosphorylation by MK2.
Report suggests that BV-2 microglial cells express HIF-3a under inflammatory conditions and that its activation differed from that of HIF-1a
Title: Differential regulation of HIF-3α in LPS-induced BV-2 microglial cells: Comparison and characterization with HIF-1α.
mRNA of HIF-2alpha and Ets-1 were significantly increased by HIF-3alpha ablation. Both factors activate the VE-cadherin gene, the transcriptional repression of these factors by HIF-3alpha is important for silencing the irrelevant expression of the VE-cadherin gene.
Title: Hypoxia-inducible factor-3α promotes angiogenic activity of pulmonary endothelial cells by repressing the expression of the VE-cadherin gene.
our data indicated that Tnni2K175del mutation led to abnormally increased hif3a and decreased vegf in bone, which explain, at least in part, the small body size of Tnni2K175del mice
Title: A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.
Anoxia preconditioning increases anti-ischemic neuronal resistance which to a certain extent correlates with the changes of HIF-1alpha and HIF-3alpha expression.
Title: Brief anoxia preconditioning and HIF prolyl-hydroxylase inhibition enhances neuronal resistance in organotypic hippocampal slices on model of ischemic damage.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7Mit190 (e-PCR), detects polymorphism
- UniSTS:131082

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription factor activity	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	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 transcription by RNA polymerase II	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: hypoxia-inducible factor 3-alpha

Names: HIF-3-alpha; HIF3-alpha; HIF3-alpha-1; basic-helix-loop-helix-PAS protein MOP7; hypoxia inducible factor three alpha; inhibitory PAS domain protein; member of PAS protein 7; neonatal and embryonic PAS protein

NCBI Reference Sequences (RefSeq)

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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_001162950.1 → NP_001156422.1 hypoxia-inducible factor 3-alpha isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC148976

Consensus CDS

CCDS52045.1

UniProtKB/Swiss-Prot

Q0VBL6

Related

ENSMUSP00000104132.3, ENSMUST00000108492.9

Conserved Domains (4) summary

cd00083
Location:13 → 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:241 → 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 ...

pfam11413
Location:477 → 506

HIF-1; Hypoxia-inducible factor-1

pfam14598
Location:241 → 346

PAS_11; PAS domain
NM_016868.3 → NP_058564.2 hypoxia-inducible factor 3-alpha isoform 2

See identical proteins and their annotated locations for NP_058564.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC148976

Consensus CDS

CCDS20860.1

UniProtKB/Swiss-Prot

A1IM61, E9QLB1, Q0VBL6, Q3UN40, Q8VHR1, Q9QX54, Q9Z2I5

Related

ENSMUSP00000048248.5, ENSMUST00000037762.11

Conserved Domains (4) summary

smart00091
Location:88 → 143

PAS; PAS domain

cd19729
Location:10 → 72

bHLH-PAS_HIF3a_PASD7; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 3-alpha (HIF3a) and similar proteins

pfam08447
Location:249 → 336

PAS_3; PAS fold

pfam11413
Location:475 → 504

HIF-1; Hypoxia-inducible factor-1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

16764918..16796352 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011250628.3 → XP_011248930.1 hypoxia-inducible factor 3-alpha isoform X1

Conserved Domains (4) summary

smart00091
Location:34 → 89

PAS; PAS domain

pfam11413
Location:421 → 450

HIF-1; Hypoxia-inducible factor-1

pfam08447
Location:195 → 282

PAS_3; PAS fold

cl00081
Location:1 → 18

bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily