GENERAL INFORMATIONi
Gene namei HIF1A
Synonyms bHLHe78, HIF-1alpha, HIF1, MOP1, PASD8
Gene descriptioni Hypoxia inducible factor 1 subunit alpha
Protein classi Cancer-related genes
Human disease related genes
Metabolic proteins
Plasma proteins
Transcription factors
Predicted locationi Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome 14
Cytoband q23.2
Chromosome location (bp) 61695513 - 61748259
Number of transcriptsi 4
Ensembl ENSG00000100644 (version 109)
Entrez gene 3091
HGNC HGNC:4910
UniProt Q16665 (UniProt - Evidence at protein level)
neXtProt NX_Q16665
GeneCards HIF1A
Antibodypedia HIF1A antibodies


PROTEIN FUNCTION
Protein function (UniProt)i Functions as a master transcriptional regulator of the adaptive response to hypoxia 1, 2, 3, 4, 5, 6, 7, 8, 9, 10. Under hypoxic conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia 11, 12, 13, 14, 15, 16, 17, 18, 19. Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease 20. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Activation requires recruitment of transcriptional coactivators such as CREBBP and EP300 21, 22. Activity is enhanced by interaction with NCOA1 and/or NCOA2 23. Interaction with redox regulatory protein APEX1 seems to activate CTAD and potentiates activation by NCOA1 and CREBBP 24, 25. Involved in the axonal distribution and transport of mitochondria in neurons during hypoxia 26. show less
Molecular function (UniProt)i Activator, DNA-binding
Biological process (UniProt)i Host-virus interaction, Transcription, Transcription regulation
Gene summary (Entrez)i 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] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
HIF1A-201
ENSP00000323326
ENST00000323441
Q16665
[Direct mapping] Hypoxia-inducible factor 1-alpha
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Transcription factors
   Basic domains
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Frameshift Mutations
Human disease related genes
   Cancers
   Head and neck cancers
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000302 [response to reactive oxygen species]
GO:0000785 [chromatin]
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001216 [DNA-binding transcription activator activity]
GO:0001223 [transcription coactivator binding]
GO:0001228 [DNA-binding transcription activator activity, RNA polymerase II-specific]
GO:0001666 [response to hypoxia]
GO:0001678 [cellular glucose homeostasis]
GO:0001837 [epithelial to mesenchymal transition]
GO:0001938 [positive regulation of endothelial cell proliferation]
GO:0002039 [p53 binding]
GO:0002248 [connective tissue replacement involved in inflammatory response wound healing]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006110 [regulation of glycolytic process]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007165 [signal transduction]
GO:0010039 [response to iron ion]
GO:0010468 [regulation of gene expression]
GO:0010573 [vascular endothelial growth factor production]
GO:0010575 [positive regulation of vascular endothelial growth factor production]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010634 [positive regulation of epithelial cell migration]
GO:0016604 [nuclear body]
GO:0016607 [nuclear speck]
GO:0016922 [nuclear receptor binding]
GO:0019896 [axonal transport of mitochondrion]
GO:0019899 [enzyme binding]
GO:0019901 [protein kinase binding]
GO:0019904 [protein domain specific binding]
GO:0030949 [positive regulation of vascular endothelial growth factor receptor signaling pathway]
GO:0031625 [ubiquitin protein ligase binding]
GO:0032364 [oxygen homeostasis]
GO:0032722 [positive regulation of chemokine production]
GO:0032909 [regulation of transforming growth factor beta2 production]
GO:0032963 [collagen metabolic process]
GO:0032991 [protein-containing complex]
GO:0043536 [positive regulation of blood vessel endothelial cell migration]
GO:0043565 [sequence-specific DNA binding]
GO:0043619 [regulation of transcription from RNA polymerase II promoter in response to oxidative stress]
GO:0045648 [positive regulation of erythrocyte differentiation]
GO:0045766 [positive regulation of angiogenesis]
GO:0045821 [positive regulation of glycolytic process]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046886 [positive regulation of hormone biosynthetic process]
GO:0046982 [protein heterodimerization activity]
GO:0046983 [protein dimerization activity]
GO:0051000 [positive regulation of nitric-oxide synthase activity]
GO:0051541 [elastin metabolic process]
GO:0051879 [Hsp90 protein binding]
GO:0061419 [positive regulation of transcription from RNA polymerase II promoter in response to hypoxia]
GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding]
GO:0070101 [positive regulation of chemokine-mediated signaling pathway]
GO:0071347 [cellular response to interleukin-1]
GO:0071456 [cellular response to hypoxia]
GO:0090575 [RNA polymerase II transcription regulator complex]
GO:0098586 [cellular response to virus]
GO:0140537 [transcription regulator activator activity]
GO:1900017 [positive regulation of cytokine production involved in inflammatory response]
GO:1902895 [positive regulation of miRNA transcription]
GO:1903377 [negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway]
GO:1904115 [axon cytoplasm]
GO:2000273 [positive regulation of signaling receptor activity]
GO:2000434 [regulation of protein neddylation]
Show all
 735 aa
82.7 kDa 		No 0
HIF1A-202
ENSP00000338018
ENST00000337138
Q16665
[Direct mapping] Hypoxia-inducible factor 1-alpha
Show all
D0VY79
[Target identity:100%; Query identity:100%] Hypoxia-inducible factor 1-alpha
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Transcription factors
   Basic domains
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Frameshift Mutations
Human disease related genes
   Cancers
   Head and neck cancers
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000302 [response to reactive oxygen species]
GO:0000785 [chromatin]
GO:0000791 [euchromatin]
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001216 [DNA-binding transcription activator activity]
GO:0001223 [transcription coactivator binding]
GO:0001228 [DNA-binding transcription activator activity, RNA polymerase II-specific]
GO:0001525 [angiogenesis]
GO:0001568 [blood vessel development]
GO:0001666 [response to hypoxia]
GO:0001678 [cellular glucose homeostasis]
GO:0001755 [neural crest cell migration]
GO:0001837 [epithelial to mesenchymal transition]
GO:0001892 [embryonic placenta development]
GO:0001922 [B-1 B cell homeostasis]
GO:0001938 [positive regulation of endothelial cell proliferation]
GO:0001944 [vasculature development]
GO:0001947 [heart looping]
GO:0002039 [p53 binding]
GO:0002052 [positive regulation of neuroblast proliferation]
GO:0002062 [chondrocyte differentiation]
GO:0002067 [glandular epithelial cell differentiation]
GO:0002071 [glandular epithelial cell maturation]
GO:0002248 [connective tissue replacement involved in inflammatory response wound healing]
GO:0003151 [outflow tract morphogenesis]
GO:0003208 [cardiac ventricle morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006089 [lactate metabolic process]
GO:0006110 [regulation of glycolytic process]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0006879 [cellular iron ion homeostasis]
GO:0006915 [apoptotic process]
GO:0007165 [signal transduction]
GO:0007405 [neuroblast proliferation]
GO:0007595 [lactation]
GO:0008542 [visual learning]
GO:0010039 [response to iron ion]
GO:0010468 [regulation of gene expression]
GO:0010508 [positive regulation of autophagy]
GO:0010573 [vascular endothelial growth factor production]
GO:0010575 [positive regulation of vascular endothelial growth factor production]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010634 [positive regulation of epithelial cell migration]
GO:0014850 [response to muscle activity]
GO:0016239 [positive regulation of macroautophagy]
GO:0016604 [nuclear body]
GO:0016607 [nuclear speck]
GO:0016922 [nuclear receptor binding]
GO:0019896 [axonal transport of mitochondrion]
GO:0019899 [enzyme binding]
GO:0019901 [protein kinase binding]
GO:0019904 [protein domain specific binding]
GO:0021502 [neural fold elevation formation]
GO:0021987 [cerebral cortex development]
GO:0030154 [cell differentiation]
GO:0030279 [negative regulation of ossification]
GO:0030282 [bone mineralization]
GO:0030502 [negative regulation of bone mineralization]
GO:0030949 [positive regulation of vascular endothelial growth factor receptor signaling pathway]
GO:0031514 [motile cilium]
GO:0031625 [ubiquitin protein ligase binding]
GO:0031929 [TOR signaling]
GO:0032007 [negative regulation of TOR signaling]
GO:0032364 [oxygen homeostasis]
GO:0032722 [positive regulation of chemokine production]
GO:0032909 [regulation of transforming growth factor beta2 production]
GO:0032963 [collagen metabolic process]
GO:0032991 [protein-containing complex]
GO:0035162 [embryonic hemopoiesis]
GO:0035773 [insulin secretion involved in cellular response to glucose stimulus]
GO:0035774 [positive regulation of insulin secretion involved in cellular response to glucose stimulus]
GO:0042127 [regulation of cell population proliferation]
GO:0042541 [hemoglobin biosynthetic process]
GO:0042593 [glucose homeostasis]
GO:0042826 [histone deacetylase binding]
GO:0043066 [negative regulation of apoptotic process]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0043536 [positive regulation of blood vessel endothelial cell migration]
GO:0043565 [sequence-specific DNA binding]
GO:0043619 [regulation of transcription from RNA polymerase II promoter in response to oxidative stress]
GO:0045648 [positive regulation of erythrocyte differentiation]
GO:0045766 [positive regulation of angiogenesis]
GO:0045821 [positive regulation of glycolytic process]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045926 [negative regulation of growth]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046716 [muscle cell cellular homeostasis]
GO:0046886 [positive regulation of hormone biosynthetic process]
GO:0046982 [protein heterodimerization activity]
GO:0046983 [protein dimerization activity]
GO:0048514 [blood vessel morphogenesis]
GO:0048546 [digestive tract morphogenesis]
GO:0048593 [camera-type eye morphogenesis]
GO:0050790 [regulation of catalytic activity]
GO:0051000 [positive regulation of nitric-oxide synthase activity]
GO:0051216 [cartilage development]
GO:0051402 [neuron apoptotic process]
GO:0051541 [elastin metabolic process]
GO:0051879 [Hsp90 protein binding]
GO:0060574 [intestinal epithelial cell maturation]
GO:0061030 [epithelial cell differentiation involved in mammary gland alveolus development]
GO:0061072 [iris morphogenesis]
GO:0061298 [retina vasculature development in camera-type eye]
GO:0061419 [positive regulation of transcription from RNA polymerase II promoter in response to hypoxia]
GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding]
GO:0070101 [positive regulation of chemokine-mediated signaling pathway]
GO:0070243 [regulation of thymocyte apoptotic process]
GO:0070244 [negative regulation of thymocyte apoptotic process]
GO:0070888 [E-box binding]
GO:0071347 [cellular response to interleukin-1]
GO:0071456 [cellular response to hypoxia]
GO:0071542 [dopaminergic neuron differentiation]
GO:0090575 [RNA polymerase II transcription regulator complex]
GO:0097152 [mesenchymal cell apoptotic process]
GO:0097411 [hypoxia-inducible factor-1alpha signaling pathway]
GO:0098586 [cellular response to virus]
GO:0140537 [transcription regulator activator activity]
GO:1900017 [positive regulation of cytokine production involved in inflammatory response]
GO:1902895 [positive regulation of miRNA transcription]
GO:1903377 [negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway]
GO:1903599 [positive regulation of autophagy of mitochondrion]
GO:1903715 [regulation of aerobic respiration]
GO:1904115 [axon cytoplasm]
GO:2000273 [positive regulation of signaling receptor activity]
GO:2000378 [negative regulation of reactive oxygen species metabolic process]
GO:2000434 [regulation of protein neddylation]
GO:2001054 [negative regulation of mesenchymal cell apoptotic process]
Show all
 826 aa
92.7 kDa 		No 0
HIF1A-203
ENSP00000378446
ENST00000394997
A8MYV6
[Direct mapping] Hypoxia-inducible factor 1-alpha
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Frameshift Mutations
Human disease related genes
   Cancers
   Head and neck cancers
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of DNA-templated transcription]
GO:0016604 [nuclear body]
GO:0016607 [nuclear speck]
GO:0046983 [protein dimerization activity]
Show all
 827 aa
92.8 kDa 		No 0
HIF1A-204
ENSP00000437955
ENST00000539097
Q16665
[Direct mapping] Hypoxia-inducible factor 1-alpha
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Transcription factors
   Basic domains
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Frameshift Mutations
Human disease related genes
   Cancers
   Head and neck cancers
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000302 [response to reactive oxygen species]
GO:0000785 [chromatin]
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001216 [DNA-binding transcription activator activity]
GO:0001223 [transcription coactivator binding]
GO:0001228 [DNA-binding transcription activator activity, RNA polymerase II-specific]
GO:0001666 [response to hypoxia]
GO:0001678 [cellular glucose homeostasis]
GO:0001837 [epithelial to mesenchymal transition]
GO:0001938 [positive regulation of endothelial cell proliferation]
GO:0002039 [p53 binding]
GO:0002248 [connective tissue replacement involved in inflammatory response wound healing]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006110 [regulation of glycolytic process]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007165 [signal transduction]
GO:0010039 [response to iron ion]
GO:0010468 [regulation of gene expression]
GO:0010573 [vascular endothelial growth factor production]
GO:0010575 [positive regulation of vascular endothelial growth factor production]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010634 [positive regulation of epithelial cell migration]
GO:0016604 [nuclear body]
GO:0016607 [nuclear speck]
GO:0016922 [nuclear receptor binding]
GO:0019896 [axonal transport of mitochondrion]
GO:0019899 [enzyme binding]
GO:0019901 [protein kinase binding]
GO:0019904 [protein domain specific binding]
GO:0030949 [positive regulation of vascular endothelial growth factor receptor signaling pathway]
GO:0031625 [ubiquitin protein ligase binding]
GO:0032364 [oxygen homeostasis]
GO:0032722 [positive regulation of chemokine production]
GO:0032909 [regulation of transforming growth factor beta2 production]
GO:0032963 [collagen metabolic process]
GO:0032991 [protein-containing complex]
GO:0043536 [positive regulation of blood vessel endothelial cell migration]
GO:0043565 [sequence-specific DNA binding]
GO:0043619 [regulation of transcription from RNA polymerase II promoter in response to oxidative stress]
GO:0045648 [positive regulation of erythrocyte differentiation]
GO:0045766 [positive regulation of angiogenesis]
GO:0045821 [positive regulation of glycolytic process]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046886 [positive regulation of hormone biosynthetic process]
GO:0046982 [protein heterodimerization activity]
GO:0046983 [protein dimerization activity]
GO:0051000 [positive regulation of nitric-oxide synthase activity]
GO:0051541 [elastin metabolic process]
GO:0051879 [Hsp90 protein binding]
GO:0061419 [positive regulation of transcription from RNA polymerase II promoter in response to hypoxia]
GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding]
GO:0070101 [positive regulation of chemokine-mediated signaling pathway]
GO:0071347 [cellular response to interleukin-1]
GO:0071456 [cellular response to hypoxia]
GO:0090575 [RNA polymerase II transcription regulator complex]
GO:0098586 [cellular response to virus]
GO:0140537 [transcription regulator activator activity]
GO:1900017 [positive regulation of cytokine production involved in inflammatory response]
GO:1902895 [positive regulation of miRNA transcription]
GO:1903377 [negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway]
GO:1904115 [axon cytoplasm]
GO:2000273 [positive regulation of signaling receptor activity]
GO:2000434 [regulation of protein neddylation]
Show all
 850 aa
95.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.


contact@proteinatlas.org