Hs07069743_cn

• Gene Symbol: HIF1A
• Assay Reference Genome Location: Chr.14:61699156 on build GRCh38
• Cytoband: 14q23.2

Target Gene Details

• Entrez Gene ID: 3091
• Gene Name: hypoxia inducible factor 1 alpha subunit
• Gene Aliases: HIF-1-alpha, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1, PASD8, bHLHe78
• Location: Chr.14:61695401-61748259 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HIF1A	NM_001243084.1			NP_001230013.1
	NM_001530.3			NP_001521.1
	NM_181054.2			NP_851397.1
	AB073325.1			BAB70608.1
	AB500182.1
	AB733094.1
	AF207601.1			AAF20139.1
	AF207602.1			AAF20140.1
	AF304431.1			AAG43026.1
	AK296876.1
	AK299551.1
	AK304315.1
	AK304436.1
	AK312397.1
	AU123241.1
	BC012527.2			AAH12527.1
	BT009776.1			AAP88778.1
	BX648795.1
	DC344032.1
	FJ790247.1
	U22431.1			AAC50152.1
	U29165.1			AAC51210.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv952848	Chr.14:61696883 - 61721682 on Build GRCh38	Duplication	HIF1A
nsv564884	Chr.14:61667038 - 61740839 on Build GRCh38	Loss	HIF1A-AS1 HIF1A
dgv3721n54	Chr.14:61682190 - 61740839 on Build GRCh38	Loss	HIF1A-AS1 HIF1A

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
angiogenesis
response to hypoxia
neural crest cell migration
epithelial to mesenchymal transition
embryonic placenta development
B-1 B cell homeostasis
positive regulation of endothelial cell proliferation
heart looping
positive regulation of neuroblast proliferation
connective tissue replacement involved in inflammatory response wound healing
outflow tract morphogenesis
cardiac ventricle morphogenesis
lactate metabolic process
regulation of transcription, DNA-templated
transcription from RNA polymerase II promoter
cellular iron ion homeostasis
acute-phase response
signal transduction
lactation
visual learning
response to salt stress
response to X-ray
regulation of gene expression
vascular endothelial growth factor production
positive regulation of vascular endothelial growth factor production
positive regulation of gene expression
positive regulation of epithelial cell migration
positive regulation of receptor biosynthetic process
response to auditory stimulus
response to purine-containing compound
response to muscle activity
positive regulation of macroautophagy
axonal transport of mitochondrion
neural fold elevation formation
cerebral cortex development
negative regulation of bone mineralization
positive regulation of vascular endothelial growth factor receptor signaling pathway
negative regulation of TOR signaling
response to estradiol
oxygen homeostasis
positive regulation of chemokine production
cellular response to insulin stimulus
regulation of transforming growth factor beta2 production
collagen metabolic process
embryonic hemopoiesis
cellular response to drug
positive regulation of insulin secretion involved in cellular response to glucose stimulus
hemoglobin biosynthetic process
mRNA transcription from RNA polymerase II promoter
positive regulation of apoptotic process
response to alkaloid
regulation of transcription from RNA polymerase II promoter in response to oxidative stress
response to estrogen
positive regulation of erythrocyte differentiation
positive regulation of angiogenesis
positive regulation of cell size
positive regulation of glycolytic process
positive regulation of transcription, DNA-templated
negative regulation of vasoconstriction
negative regulation of growth
positive regulation of transcription from RNA polymerase II promoter
muscle cell cellular homeostasis
positive regulation of hormone biosynthetic process
digestive tract morphogenesis
positive regulation of smooth muscle cell proliferation
positive regulation of nitric-oxide synthase activity
cartilage development
response to glucocorticoid
elastin metabolic process
maternal process involved in female pregnancy
intestinal epithelial cell maturation
response to fungicide
epithelial cell differentiation involved in mammary gland alveolus development
iris morphogenesis
retina vasculature development in camera-type eye
regulation of transcription from RNA polymerase II promoter in response to hypoxia
positive regulation of transcription from RNA polymerase II promoter in response to hypoxia
positive regulation of chemokine-mediated signaling pathway
negative regulation of thymocyte apoptotic process
cellular response to hydrogen peroxide
cellular response to lipopolysaccharide
cellular response to carbon monoxide
cellular response to nitrite
cellular response to electrical stimulus
cellular response to mechanical stimulus
cellular response to cobalt ion
cellular response to glucose stimulus
cellular response to interleukin-1
cellular response to organic cyclic compound
cellular response to hypoxia
cellular response to light stimulus
dopaminergic neuron differentiation
response to anesthetic
cellular response to toxic substance
hypoxia-inducible factor-1alpha signaling pathway
regulation of cellular response to hypoxia
positive regulation of pri-miRNA transcription from RNA polymerase II promoter
negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway
positive regulation of mitophagy
regulation of aerobic respiration
cellular response to cyanide
negative regulation of reactive oxygen species metabolic process
negative regulation of mesenchymal cell apoptotic process

Function(s)

transcription factor activity, transcription factor binding
transcription factor activity, RNA polymerase II transcription factor binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
transcription factor activity, sequence-specific DNA binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
protein binding
transcription factor binding
enzyme binding
protein kinase binding
ubiquitin protein ligase binding
protein complex binding
histone acetyltransferase binding
nuclear hormone receptor binding
histone deacetylase binding
sequence-specific DNA binding
protein heterodimerization activity
Hsp90 protein binding