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HIF1A (hypoxia inducible factor 1 alpha subunit)

Identity

Alias_nameshypoxia inducible factor 1
Alias_symbol (synonym)MOP1
HIF-1alpha
PASD8
HIF1
bHLHe78
Other aliasHIF-1-alpha
HIF-1A
HIF1-ALPHA
HGNC (Hugo) HIF1A
LocusID (NCBI) 3091
Atlas_Id 40821
Location 14q23.2  [Link to chromosome band 14q23]
Location_base_pair Starts at 62164340 and ends at 62214977 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HIF1A (14q23.2) / CD63 (12q13.2)HIF1A (14q23.2) / EEF1D (8q24.3)HIF1A (14q23.2) / MNAT1 (14q23.1)
HIF1A (14q23.2) / NRP1 (10p11.22)HIF1A (14q23.2) / OFD1 (Xp22.2)HIF1A (14q23.2) / PRKCH (14q23.1)
HIF1A (14q23.2) / ROMO1 (20q11.22)HIF1A (14q23.2) / RP11-47I22.3 ()MXI1 (10q25.2) / HIF1A (14q23.2)
SPINT1 (15q15.1) / HIF1A (14q23.2)HIF1A 14q23.2 / MNAT1 14q23.1HIF1A 14q23.2 / PRKCH 14q23.1
HIF1A 14q23.2 RP11-47I22.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Breast: Ductal carcinoma
Head and Neck: Ear: Endolymphatic Sac Tumor (ELST)
Bone: Periosteal chondroma


External links

Nomenclature
HGNC (Hugo)HIF1A   4910
Cards
Entrez_Gene (NCBI)HIF1A  3091  hypoxia inducible factor 1 alpha subunit
AliasesHIF-1-alpha; HIF-1A; HIF-1alpha; HIF1; 
HIF1-ALPHA; MOP1; PASD8; bHLHe78
GeneCards (Weizmann)HIF1A
Ensembl hg19 (Hinxton)ENSG00000100644 [Gene_View]  chr14:62164340-62214977 [Contig_View]  HIF1A [Vega]
Ensembl hg38 (Hinxton)ENSG00000100644 [Gene_View]  chr14:62164340-62214977 [Contig_View]  HIF1A [Vega]
ICGC DataPortalENSG00000100644
TCGA cBioPortalHIF1A
AceView (NCBI)HIF1A
Genatlas (Paris)HIF1A
WikiGenes3091
SOURCE (Princeton)HIF1A
Genetics Home Reference (NIH)HIF1A
Genomic and cartography
GoldenPath hg19 (UCSC)HIF1A  -     chr14:62164340-62214977 +  14q23.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HIF1A  -     14q23.2   [Description]    (hg38-Dec_2013)
EnsemblHIF1A - 14q23.2 [CytoView hg19]  HIF1A - 14q23.2 [CytoView hg38]
Mapping of homologs : NCBIHIF1A [Mapview hg19]  HIF1A [Mapview hg38]
OMIM603348   
Gene and transcription
Genbank (Entrez)AB073325 AB500182 AB733094 AF207601 AF207602
RefSeq transcript (Entrez)NM_001243084 NM_001530 NM_181054
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_029606 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)HIF1A
Cluster EST : UnigeneHs.719495 [ NCBI ]
CGAP (NCI)Hs.719495
Alternative Splicing GalleryENSG00000100644
Gene ExpressionHIF1A [ NCBI-GEO ]   HIF1A [ EBI - ARRAY_EXPRESS ]   HIF1A [ SEEK ]   HIF1A [ MEM ]
Gene Expression Viewer (FireBrowse)HIF1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3091
GTEX Portal (Tissue expression)HIF1A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16665   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16665  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16665
Splice isoforms : SwissVarQ16665
PhosPhoSitePlusQ16665
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    PAS (PS50112)   
Domains : Interpro (EBI)bHLH_dom    HIF-1_alpha    HIF-1_TAD_C    HIF_alpha_subunit    PAC    PAS    PAS_fold    PAS_fold_3   
Domain families : Pfam (Sanger)HIF-1 (PF11413)    HIF-1a_CTAD (PF08778)    PAS (PF00989)    PAS_3 (PF08447)   
Domain families : Pfam (NCBI)pfam11413    pfam08778    pfam00989    pfam08447   
Domain families : Smart (EMBL)HLH (SM00353)  PAC (SM00086)  PAS (SM00091)  
Conserved Domain (NCBI)HIF1A
DMDM Disease mutations3091
Blocks (Seattle)HIF1A
PDB (SRS)1D7G    1H2K    1H2L    1H2M    1L3E    1L8C    1LM8    1LQB    2ILM    3HQR    3HQU    4AJY    4H6J   
PDB (PDBSum)1D7G    1H2K    1H2L    1H2M    1L3E    1L8C    1LM8    1LQB    2ILM    3HQR    3HQU    4AJY    4H6J   
PDB (IMB)1D7G    1H2K    1H2L    1H2M    1L3E    1L8C    1LM8    1LQB    2ILM    3HQR    3HQU    4AJY    4H6J   
PDB (RSDB)1D7G    1H2K    1H2L    1H2M    1L3E    1L8C    1LM8    1LQB    2ILM    3HQR    3HQU    4AJY    4H6J   
Structural Biology KnowledgeBase1D7G    1H2K    1H2L    1H2M    1L3E    1L8C    1LM8    1LQB    2ILM    3HQR    3HQU    4AJY    4H6J   
SCOP (Structural Classification of Proteins)1D7G    1H2K    1H2L    1H2M    1L3E    1L8C    1LM8    1LQB    2ILM    3HQR    3HQU    4AJY    4H6J   
CATH (Classification of proteins structures)1D7G    1H2K    1H2L    1H2M    1L3E    1L8C    1LM8    1LQB    2ILM    3HQR    3HQU    4AJY    4H6J   
SuperfamilyQ16665
Human Protein AtlasENSG00000100644
Peptide AtlasQ16665
HPRD04517
IPIIPI00003442   IPI00332963   IPI01013207   IPI00788876   IPI01011029   IPI00744661   IPI00377113   
Protein Interaction databases
DIP (DOE-UCLA)Q16665
IntAct (EBI)Q16665
FunCoupENSG00000100644
BioGRIDHIF1A
STRING (EMBL)HIF1A
ZODIACHIF1A
Ontologies - Pathways
QuickGOQ16665
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  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  angiogenesis  response to hypoxia  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  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleoplasm  transcription factor complex  cytoplasm  cytosol  cytosol  lactate metabolic process  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  cellular iron ion homeostasis  acute-phase response  signal transduction  lactation  transcription factor binding  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 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  nuclear speck  axon transport of mitochondrion  enzyme binding  protein kinase binding  neural fold elevation formation  cerebral cortex development  negative regulation of bone mineralization  positive regulation of vascular endothelial growth factor receptor signaling pathway  motile cilium  ubiquitin protein ligase binding  negative regulation of TOR signaling  response to estradiol  oxygen homeostasis  protein complex binding  positive regulation of chemokine production  cellular response to insulin stimulus  regulation of transforming growth factor beta2 production  collagen metabolic process  histone acetyltransferase binding  embryonic hemopoiesis  nuclear hormone receptor binding  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  histone deacetylase binding  positive regulation of apoptotic process  response to alkaloid  sequence-specific DNA binding  regulation of transcription from RNA polymerase II promoter in response to oxidative stress  positive regulation of erythrocyte differentiation  positive regulation of angiogenesis  positive regulation of angiogenesis  positive regulation of cell size  positive regulation of glycolytic process  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  negative regulation of vasoconstriction  negative regulation of growth  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  muscle cell cellular homeostasis  positive regulation of hormone biosynthetic process  protein heterodimerization activity  protein heterodimerization activity  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  Hsp90 protein binding  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 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 hypoxia  cellular response to light stimulus  dopaminergic neuron differentiation  response to anesthetic  RNA polymerase II transcription factor complex  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  axon cytoplasm  negative regulation of reactive oxygen species metabolic process  negative regulation of mesenchymal cell apoptotic process  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  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  angiogenesis  response to hypoxia  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  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleoplasm  transcription factor complex  cytoplasm  cytosol  cytosol  lactate metabolic process  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  cellular iron ion homeostasis  acute-phase response  signal transduction  lactation  transcription factor binding  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 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  nuclear speck  axon transport of mitochondrion  enzyme binding  protein kinase binding  neural fold elevation formation  cerebral cortex development  negative regulation of bone mineralization  positive regulation of vascular endothelial growth factor receptor signaling pathway  motile cilium  ubiquitin protein ligase binding  negative regulation of TOR signaling  response to estradiol  oxygen homeostasis  protein complex binding  positive regulation of chemokine production  cellular response to insulin stimulus  regulation of transforming growth factor beta2 production  collagen metabolic process  histone acetyltransferase binding  embryonic hemopoiesis  nuclear hormone receptor binding  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  histone deacetylase binding  positive regulation of apoptotic process  response to alkaloid  sequence-specific DNA binding  regulation of transcription from RNA polymerase II promoter in response to oxidative stress  positive regulation of erythrocyte differentiation  positive regulation of angiogenesis  positive regulation of angiogenesis  positive regulation of cell size  positive regulation of glycolytic process  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  negative regulation of vasoconstriction  negative regulation of growth  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  muscle cell cellular homeostasis  positive regulation of hormone biosynthetic process  protein heterodimerization activity  protein heterodimerization activity  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  Hsp90 protein binding  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 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 hypoxia  cellular response to light stimulus  dopaminergic neuron differentiation  response to anesthetic  RNA polymerase II transcription factor complex  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  axon cytoplasm  negative regulation of reactive oxygen species metabolic process  negative regulation of mesenchymal cell apoptotic process  
Pathways : BIOCARTAHypoxia and p53 in the Cardiovascular system [Genes]    Erythropoietin mediated neuroprotection through NF-kB [Genes]    VEGF, Hypoxia, and Angiogenesis [Genes]    Hypoxia-Inducible Factor in the Cardiovascular System [Genes]   
Pathways : KEGGHIF-1 signaling pathway    mTOR signaling pathway    Thyroid hormone signaling pathway    Pathways in cancer    Proteoglycans in cancer    Renal cell carcinoma   
NDEx NetworkHIF1A
Atlas of Cancer Signalling NetworkHIF1A
Wikipedia pathwaysHIF1A
Orthology - Evolution
OrthoDB3091
GeneTree (enSembl)ENSG00000100644
Phylogenetic Trees/Animal Genes : TreeFamHIF1A
HOVERGENQ16665
HOGENOMQ16665
Homologs : HomoloGeneHIF1A
Homology/Alignments : Family Browser (UCSC)HIF1A
Gene fusions - Rearrangements
Fusion : MitelmanHIF1A/MNAT1 [14q23.2/14q23.1]  
Fusion : MitelmanHIF1A/PRKCH [14q23.2/14q23.1]  [t(14;14)(q23;q23)]  
Fusion: TCGAHIF1A 14q23.2 MNAT1 14q23.1 BRCA
Fusion: TCGAHIF1A 14q23.2 PRKCH 14q23.1 LUAD OV
Fusion: TCGAHIF1A 14q23.2 RP11-47I22.3 KIRC LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHIF1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HIF1A
dbVarHIF1A
ClinVarHIF1A
1000_GenomesHIF1A 
Exome Variant ServerHIF1A
ExAC (Exome Aggregation Consortium)HIF1A (select the gene name)
Genetic variants : HAPMAP3091
Genomic Variants (DGV)HIF1A [DGVbeta]
DECIPHER (Syndromes)14:62164340-62214977  ENSG00000100644
CONAN: Copy Number AnalysisHIF1A 
Mutations
ICGC Data PortalHIF1A 
TCGA Data PortalHIF1A 
Broad Tumor PortalHIF1A
OASIS PortalHIF1A [ Somatic mutations - Copy number]
Cancer Gene: CensusHIF1A 
Somatic Mutations in Cancer : COSMICHIF1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHIF1A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HIF1A
DgiDB (Drug Gene Interaction Database)HIF1A
DoCM (Curated mutations)HIF1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HIF1A (select a term)
intoGenHIF1A
Cancer3DHIF1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603348   
Orphanet
MedgenHIF1A
Genetic Testing Registry HIF1A
NextProtQ16665 [Medical]
TSGene3091
GENETestsHIF1A
Huge Navigator HIF1A [HugePedia]
snp3D : Map Gene to Disease3091
BioCentury BCIQHIF1A
ClinGenHIF1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3091
Chemical/Pharm GKB GenePA29283
Clinical trialHIF1A
Miscellaneous
canSAR (ICR)HIF1A (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHIF1A
EVEXHIF1A
GoPubMedHIF1A
iHOPHIF1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:08:59 CET 2017

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