HIF1A: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

HIF1A

Aliases

HIF-1-alpha, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1, PASD8, bHLHe78

Entrez Gene ID

3091

Gene Name

Hypoxia inducible factor 1 subunit alpha

Chromosomal Location

14q23.2

HGNC ID

HGNC:4910

Summary

This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011]

RefSeq DNA

NG_029606.1

RefSeq mRNA

NM_001530.4, NM_181054.3, NM_001243084.1

e!Ensembl

Gene	ENSG00000100644
Transcript	ENST00000337138, ENST00000394997, ENST00000323441, ENST00000557538, ENST00000539097
Protein	ENSP00000338018, ENSP00000378446, ENSP00000323326, ENSP00000451696, ENSP00000437955

Gene Ontology (GO)

Show/Hide all(80 )

GO ID	Ontology	Function	Evidence	Reference
GO:0001666	Biological process	Response to hypoxia	IDA	8756616, 9887100, 11782478, 15261140, 18419598
GO:0001666	Biological process	Response to hypoxia	IMP	12411310
GO:0001837	Biological process	Epithelial to mesenchymal transition	ISS	18037992
GO:0001938	Biological process	Positive regulation of endothelial cell proliferation	IC	8756616
GO:0002248	Biological process	Connective tissue replacement involved in inflammatory response wound healing	ISS	18037992
GO:0006355	Biological process	Regulation of transcription, DNA-templated	IDA	11782478, 15261140
GO:0006357	Biological process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006366	Biological process	Transcription by RNA polymerase II	IMP	24048733
GO:0007165	Biological process	Signal transduction	IMP	12411310
GO:0010039	Biological process	Response to iron ion	IEP	28296633
GO:0010468	Biological process	Regulation of gene expression	IDA	18419598
GO:0010573	Biological process	Vascular endothelial growth factor production	IDA	12958148
GO:0010575	Biological process	Positive regulation of vascular endothelial growth factor production	IDA	8756616
GO:0010575	Biological process	Positive regulation of vascular endothelial growth factor production	IMP	18658046
GO:0010628	Biological process	Positive regulation of gene expression	IDA	15459207, 24244340
GO:0010628	Biological process	Positive regulation of gene expression	IMP	21817107, 22886504
GO:0010629	Biological process	Negative regulation of gene expression	IMP	26879375
GO:0010634	Biological process	Positive regulation of epithelial cell migration	ISS	18037992
GO:0010870	Biological process	Positive regulation of receptor biosynthetic process	IMP	17178876
GO:0019896	Biological process	Axonal transport of mitochondrion	IMP	19528298
GO:0030949	Biological process	Positive regulation of vascular endothelial growth factor receptor signaling pathway	IC	8756616, 12958148
GO:0032364	Biological process	Oxygen homeostasis	IDA	16956324
GO:0032722	Biological process	Positive regulation of chemokine production	TAS	18370914
GO:0032909	Biological process	Regulation of transforming growth factor beta2 production	IMP	12411310
GO:0032963	Biological process	Collagen metabolic process	ISS	18037992
GO:0042789	Biological process	MRNA transcription by RNA polymerase II	IC	7539918
GO:0043536	Biological process	Positive regulation of blood vessel endothelial cell migration	IMP	26879375
GO:0043619	Biological process	Regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IDA	8089148, 8387214
GO:0045648	Biological process	Positive regulation of erythrocyte differentiation	IC	1448077
GO:0045766	Biological process	Positive regulation of angiogenesis	IC	8756616
GO:0045766	Biological process	Positive regulation of angiogenesis	IMP	24048733, 26879375
GO:0045821	Biological process	Positive regulation of glycolytic process	IC	8089148
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IDA	8089148, 9887100, 25043030
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IMP	21056661
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	11573933
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IGI	9576906, 17981124
GO:0046886	Biological process	Positive regulation of hormone biosynthetic process	IDA	1448077
GO:0051000	Biological process	Positive regulation of nitric-oxide synthase activity	TAS	18254728
GO:0051541	Biological process	Elastin metabolic process	ISS	18037992
GO:0061419	Biological process	Positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IDA	22735262
GO:0061419	Biological process	Positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IMP	19652095, 24681946
GO:0070101	Biological process	Positive regulation of chemokine-mediated signaling pathway	IC	17178876
GO:0071347	Biological process	Cellular response to interleukin-1	IEP	12958148
GO:0071456	Biological process	Cellular response to hypoxia	IDA	11573933, 19528298, 20889502
GO:0071456	Biological process	Cellular response to hypoxia	IEP	19782034, 20810912
GO:1902895	Biological process	Positive regulation of pri-miRNA transcription by RNA polymerase II	IDA	19782034
GO:1902895	Biological process	Positive regulation of pri-miRNA transcription by RNA polymerase II	IMP	19141645, 24983504
GO:1903377	Biological process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	24899725
GO:0000790	Cellular component	Nuclear chromatin	IDA	19782034
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	8089148, 15261140, 18658046, 20810912, 20972335, 22848707, 24048733, 25043030
GO:0005667	Cellular component	Transcription factor complex	IPI	9576906
GO:0005737	Cellular component	Cytoplasm	IDA	19651758, 24048733
GO:0005829	Cellular component	Cytosol	IDA	24681946
GO:0032991	Cellular component	Protein-containing complex	IMP	14594809, 15629713
GO:0090575	Cellular component	RNA polymerase II transcription factor complex	IDA	7539918, 8756616
GO:0000977	Molecular function	RNA polymerase II regulatory region sequence-specific DNA binding	IDA	19782034
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	8387214, 9079689
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	7539918, 8756616
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	19274049
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	NAS	19274049
GO:0001228	Molecular function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	19782034
GO:0001228	Molecular function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	24983504
GO:0002039	Molecular function	P53 binding	IPI	15629713
GO:0003700	Molecular function	DNA-binding transcription factor activity	IDA	11782478, 18658046, 25043030
GO:0003700	Molecular function	DNA-binding transcription factor activity	TAS	15261140
GO:0005515	Molecular function	Protein binding	IPI	9704006, 9887100, 11292862, 12004076, 12050673, 12446723, 15261140, 15721254, 16424018, 16511565, 16543236, 17003112, 17024177, 17353276, 17382325, 17426252, 18268343, 18323857, 18427106, 18509053, 18775313, 19071119, 19168635, 19680224, 20562859, 20603618, 20661221, 20840591, 20932
GO:0008134	Molecular function	Transcription factor binding	IPI	7539918
GO:0019899	Molecular function	Enzyme binding	IPI	11641274
GO:0019901	Molecular function	Protein kinase binding	IPI	20889502
GO:0019904	Molecular function	Protein domain specific binding	IPI	14594809
GO:0031625	Molecular function	Ubiquitin protein ligase binding	IPI	11641274
GO:0035035	Molecular function	Histone acetyltransferase binding	IPI	15261140
GO:0035257	Molecular function	Nuclear hormone receptor binding	IPI	18658046
GO:0043565	Molecular function	Sequence-specific DNA binding	IDA	7539918, 8756616, 9079689
GO:0046982	Molecular function	Protein heterodimerization activity	IPI	9079689, 12239177
GO:0046982	Molecular function	Protein heterodimerization activity	TAS	15261140
GO:0051879	Molecular function	Hsp90 protein binding	IDA	9079689

Protein Information

Protein Name

Hypoxia-inducible factor 1-alpha, ARNT interacting protein, PAS domain-containing protein 8, basic-helix-loop-helix-PAS protein MOP1, class E basic helix-loop-helix protein 78, hypoxia inducible factor 1 alpha subunit, hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor), hypoxia-inducible factor 1 alpha isoform I.3, hypoxia-inducible factor1alpha, member of PAS protein 1, member of PAS superfamily 1

Function

Refseq Proteins

NP_001521.1, NP_851397.1, NP_001230013.1

UniProt

Q16665

PDB

1D7G, 4H6J, 3HQR, 3HQU, 5L9B, 5L9V, 5LA9, 5LAS, 1LM8, 1LQB, 4AJY, 6GFX, 6GMR, 1L3E, 1H2K, 1H2L, 1H2M, 1L8C, 2ILM, 5JWP

Pfam

Pfam Accession	Pfam ID
PF11413	HIF-1
PF08778	HIF-1a_CTAD
PF00989	PAS
PF08447	PAS_3