ENSG00000100644


Homo sapiens

Features
Gene ID: ENSG00000100644
  
Biological name :HIF1A
  
Synonyms : HIF1A / hypoxia inducible factor 1 alpha subunit / Q16665
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q23.2
Gene start: 61695513
Gene end: 61748259
  
Corresponding Affymetrix probe sets: 200989_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000338018
Ensembl peptide - ENSP00000451696
Ensembl peptide - ENSP00000437955
Ensembl peptide - ENSP00000378446
Ensembl peptide - ENSP00000323326
NCBI entrez gene - 3091     See in Manteia.
OMIM - 603348
RefSeq - NM_001243084
RefSeq - NM_001530
RefSeq - NM_181054
RefSeq Peptide - NP_001521
RefSeq Peptide - NP_851397
RefSeq Peptide - NP_001230013
swissprot - Q16665
swissprot - A8MYV6
swissprot - F8W9L0
swissprot - D0VY79
Ensembl - ENSG00000100644
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hif1aaENSDARG00000006181Danio rerio
 hif1abENSDARG00000034293Danio rerio
 HIF1AENSGALG00000011870Gallus gallus
 Hif1aENSMUSG00000021109Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EPAS1 / Q99814 / endothelial PAS domain protein 1ENSG0000011601646
HIF3A / Q9Y2N7 / hypoxia inducible factor 3 alpha subunitENSG0000012444031
NPAS3 / Q8IXF0 / neuronal PAS domain protein 3ENSG0000015132222
SIM1 / P81133 / single-minded family bHLH transcription factor 1ENSG0000011224621
SIM2 / Q14190 / single-minded family bHLH transcription factor 2ENSG0000015926321
NPAS1 / Q99742 / neuronal PAS domain protein 1ENSG0000013075118
NPAS2 / Q99743 / neuronal PAS domain protein 2ENSG0000017048515
ARNT / P27540 / aryl hydrocarbon receptor nuclear translocatorENSG0000014343715
CLOCK / O15516 / clock circadian regulatorENSG0000013485215
ARNTL2 / Q8WYA1 / aryl hydrocarbon receptor nuclear translocator like 2ENSG0000002915314
ARNT2 / Q9HBZ2 / aryl hydrocarbon receptor nuclear translocator 2ENSG0000017237914
ARNTL / O00327 / aryl hydrocarbon receptor nuclear translocator likeENSG0000013379413


Protein motifs (from Interpro)
Interpro ID Name
 IPR000014  PAS domain
 IPR001321  Hypoxia-inducible factor-1 alpha
 IPR001610  PAC motif
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR013655  PAS fold-3
 IPR013767  PAS fold
 IPR014887  HIF-1 alpha, transactivation domain, C-terminal
 IPR021537  Hypoxia-inducible factor, alpha subunit
 IPR035965  PAS domain superfamily
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001568 blood vessel development IEA
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001755 neural crest cell migration IEA
 biological_processGO:0001837 epithelial to mesenchymal transition IEA
 biological_processGO:0001892 embryonic placenta development IEA
 biological_processGO:0001922 B-1 B cell homeostasis IEA
 biological_processGO:0001938 positive regulation of endothelial cell proliferation IC
 biological_processGO:0001944 vasculature development IEA
 biological_processGO:0001947 heart looping IEA
 biological_processGO:0002052 positive regulation of neuroblast proliferation IEA
 biological_processGO:0002248 connective tissue replacement involved in inflammatory response wound healing IEA
 biological_processGO:0003151 outflow tract morphogenesis IEA
 biological_processGO:0003208 cardiac ventricle morphogenesis IEA
 biological_processGO:0006089 lactate metabolic process IEA
 biological_processGO:0006110 regulation of glycolytic process IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IDA
 biological_processGO:0006366 transcription by RNA polymerase II IMP
 biological_processGO:0006879 cellular iron ion homeostasis IEA
 biological_processGO:0007165 signal transduction IMP
 biological_processGO:0007595 lactation IEA
 biological_processGO:0008542 visual learning IEA
 biological_processGO:0010039 response to iron ion IEP
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0010508 positive regulation of autophagy IEA
 biological_processGO:0010573 vascular endothelial growth factor production IDA
 biological_processGO:0010575 positive regulation of vascular endothelial growth factor production IMP
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0010634 positive regulation of epithelial cell migration IEA
 biological_processGO:0010870 positive regulation of receptor biosynthetic process IMP
 biological_processGO:0014850 response to muscle activity IEA
 biological_processGO:0016239 positive regulation of macroautophagy IEA
 biological_processGO:0016567 protein ubiquitination TAS
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0019896 axonal transport of mitochondrion IMP
 biological_processGO:0021502 neural fold elevation formation IEA
 biological_processGO:0021987 cerebral cortex development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030279 negative regulation of ossification IEA
 biological_processGO:0030502 negative regulation of bone mineralization IEA
 biological_processGO:0030949 positive regulation of vascular endothelial growth factor receptor signaling pathway IEA
 biological_processGO:0032007 negative regulation of TOR signaling IEA
 biological_processGO:0032364 oxygen homeostasis IDA
 biological_processGO:0032722 positive regulation of chemokine production TAS
 biological_processGO:0032909 regulation of transforming growth factor beta2 production IMP
 biological_processGO:0032963 collagen metabolic process IEA
 biological_processGO:0035162 embryonic hemopoiesis IEA
 biological_processGO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA
 biological_processGO:0042127 regulation of cell proliferation IEA
 biological_processGO:0042541 hemoglobin biosynthetic process IEA
 biological_processGO:0042593 glucose homeostasis IEA
 biological_processGO:0042789 mRNA transcription by RNA polymerase II IC
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0043536 positive regulation of blood vessel endothelial cell migration IMP
 biological_processGO:0043619 regulation of transcription from RNA polymerase II promoter in response to oxidative stress IEA
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0045648 positive regulation of erythrocyte differentiation IEA
 biological_processGO:0045766 positive regulation of angiogenesis IMP
 biological_processGO:0045821 positive regulation of glycolytic process IC
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0045926 negative regulation of growth IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0046716 muscle cell cellular homeostasis IEA
 biological_processGO:0046886 positive regulation of hormone biosynthetic process IDA
 biological_processGO:0048514 blood vessel morphogenesis IEA
 biological_processGO:0048546 digestive tract morphogenesis IEA
 biological_processGO:0048593 camera-type eye morphogenesis IEA
 biological_processGO:0050790 regulation of catalytic activity IEA
 biological_processGO:0051000 positive regulation of nitric-oxide synthase activity TAS
 biological_processGO:0051216 cartilage development IEA
 biological_processGO:0051541 elastin metabolic process ISS
 biological_processGO:0060574 intestinal epithelial cell maturation IEA
 biological_processGO:0061030 epithelial cell differentiation involved in mammary gland alveolus development IEA
 biological_processGO:0061072 iris morphogenesis IEA
 biological_processGO:0061298 retina vasculature development in camera-type eye IEA
 biological_processGO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
 biological_processGO:0061419 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia IMP
 biological_processGO:0070101 positive regulation of chemokine-mediated signaling pathway IC
 biological_processGO:0070243 regulation of thymocyte apoptotic process IEA
 biological_processGO:0070244 negative regulation of thymocyte apoptotic process IEA
 biological_processGO:0071347 cellular response to interleukin-1 IEP
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0071542 dopaminergic neuron differentiation IEA
 biological_processGO:0097411 hypoxia-inducible factor-1alpha signaling pathway IEA
 biological_processGO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase II IMP
 biological_processGO:1903377 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IDA
 biological_processGO:1903599 positive regulation of autophagy of mitochondrion IEA
 biological_processGO:1903715 regulation of aerobic respiration IEA
 biological_processGO:2000378 negative regulation of reactive oxygen species metabolic process IEA
 biological_processGO:2001054 negative regulation of mesenchymal cell apoptotic process IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IPI
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0016607 nuclear speck ISS
 cellular_componentGO:0031514 motile cilium IEA
 cellular_componentGO:0032991 protein-containing complex IMP
 cellular_componentGO:0090575 RNA polymerase II transcription factor complex IDA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA
 molecular_functionGO:0000989 transcription factor activity, transcription factor binding IDA
 molecular_functionGO:0001076 transcription factor activity, RNA polymerase II transcription factor binding IEA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP
 molecular_functionGO:0002039 p53 binding IPI
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0019904 protein domain specific binding IPI
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0035035 histone acetyltransferase binding IPI
 molecular_functionGO:0035257 nuclear hormone receptor binding IPI
 molecular_functionGO:0042826 histone deacetylase binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity TAS
 molecular_functionGO:0046983 protein dimerization activity IEA
 molecular_functionGO:0051879 Hsp90 protein binding IDA
 molecular_functionGO:0070888 E-box binding IEA


Pathways (from Reactome)
Pathway description
Regulation of gene expression by Hypoxia-inducible Factor
Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
NOTCH1 Intracellular Domain Regulates Transcription
Circadian Clock
Ub-specific processing proteases
Interleukin-4 and Interleukin-13 signaling
PTK6 Expression
PTK6 promotes HIF1A stabilization
Neddylation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100387 RBX1 / P62877 / ring-box 1  / reaction / complex
 ENSG00000101213 PTK6 / Q13882 / protein tyrosine kinase 6  / reaction
 ENSG00000113070 HBEGF / Q99075 / heparin binding EGF like growth factor  / reaction
 ENSG00000131508 P62837 / UBE2D2 / ubiquitin conjugating enzyme E2 D2  / reaction
 ENSG00000129521 EGLN3 / Q9H6Z9 / egl-9 family hypoxia inducible factor 3  / complex / reaction
 ENSG00000103363 ELOB / Q15370 / elongin B  / reaction / complex
 ENSG00000005339 CREBBP / Q92793 / CREB binding protein  / complex
 ENSG00000134086 VHL / P40337 / von Hippel-Lindau tumor suppressor  / complex / reaction
 ENSG00000136235 GPNMB / Q14956 / glycoprotein nmb  / reaction
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / complex
 ENSG00000146648 EGFR / P00533 / epidermal growth factor receptor  / reaction
 ENSG00000188906 LRRK2 / Q5S007 / leucine rich repeat kinase 2  / reaction
 ENSG00000154582 ELOC / Q15369 / elongin C  / reaction / complex
 ENSG00000269858 EGLN2 / Q96KS0 / egl-9 family hypoxia inducible factor 2  / reaction
 ENSG00000166135 HIF1AN / Q9NWT6 / hypoxia inducible factor 1 alpha subunit inhibitor  / reaction
 ENSG00000144791 LIMD1 / Q9UGP4 / LIM domains containing 1  / reaction / complex
 ENSG00000108094 CUL2 / Q13617 / cullin 2  / complex / reaction
 ENSG00000072401 P51668 / UBE2D1 / ubiquitin conjugating enzyme E2 D1  / reaction
 ENSG00000109332 P61077 / UBE2D3 / ubiquitin conjugating enzyme E2 D3  / reaction
 ENSG00000172046 USP19 / O94966 / ubiquitin specific peptidase 19  / reaction / complex
 ENSG00000148400 NOTCH1 / P46531  / reaction / complex
 ENSG00000143437 ARNT / P27540 / aryl hydrocarbon receptor nuclear translocator  / reaction / complex
 ENSG00000135766 EGLN1 / Q9GZT9 / egl-9 family hypoxia inducible factor 1  / complex / reaction






 

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