HIF3A - hypoxia inducible factor 3 subunit alpha Gene

Homo sapiens

Also known as IPAS; MOP7; PASD7; HIF-3A; bHLHe17; HIF3-alpha-1

Gene ID: 64344 | Gene type: protein coding

About HIF3A

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:46,297,042-46,343,433 (from NCBI)

This gene has 19 transcripts (splice variants), 191 orthologues and 7 paralogues. Broad expression in placenta (RPKM 8.3), spleen (RPKM 6.6) and 17 other tissues.

Summary

The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]

HIF3A Products(4)

mRNA	Protein	Name
NM_022462.4	NP_071907.4	hypoxia-inducible factor 3-alpha isoform b
NM_152794.4	NP_690007.1	hypoxia-inducible factor 3-alpha isoform a
NM_152795.4	NP_690008.2	hypoxia-inducible factor 3-alpha isoform c
NM_152796.2	NP_690009.1	hypoxia-inducible factor 3-alpha isoform d

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	11573933	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	31768607	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16126907	GOA

Biological Process GO Annotation	Evidence	Reference	Source
NOT involved in cellular response to hypoxia	IDA IDA: Inferred from direct assay	11573933	GOA
involved in regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11573933	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromatin	IDA IDA: Inferred from direct assay	31768607	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HIF3A Protein Structure

PAS

PAS_11

HIF-1

0
200
400
600
669 a.a.

Protein Preferred Names

Protein Names

hypoxia-inducible factor 3-alpha

PAS domain-containing protein 7

Related Diseases

Diseases

Alias

Erythrocytosis, Familial, 4

ECYT4	Familial Erythrocytosis 4
Erythrocytosis, Familial, Type 4

Erythrocytosis, Familial, 3

ECYT3	Familial Erythrocytosis 3
Erythrocytosis, Familial, Type 3

Erythrocytosis, Familial, 8

Diphosphoglycerate Mutase Deficiency Of Erythrocyte	ECYT8
Bisphosphoglycerate Mutase Deficiency	Bisphosphoglyceromutase Deficiency
Bpgm Deficiency	Dpgm Deficiency
Deficiency Of Bisphosphoglycerate Mutase	Familial Erythrocytosis 8
Hemolytic Anemia Due To Diphosphoglycerate Mutase Deficiency	Erythrocytosis Due To Bisphosphoglycerate Mutase Deficiency
Erythrocytosis, Familial, Type 8

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06170	HIF3A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HIF3A	VGNC	VGNC:62814
Macaca mulatta	HIF3A	VGNC	VGNC:73395
Mus musculus	HIF3A	MGD	MGI:1859778
Rattus norvegicus	HIF3A	RGD	RGD:70332
Bos taurus	HIF3A	VGNC	VGNC:29850

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