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    HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) [ Homo sapiens ]

    Gene ID: 3091, updated on 20-May-2012

    Summary

    Official Symbol
    HIF1Aprovided by HGNC
    Official Full Name
    hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)provided by HGNC
    Primary source
    HGNC:4910
    See related
    Ensembl:ENSG00000100644; HPRD:04517; MIM:603348; Vega:OTTHUMG00000140344
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HIF1; MOP1; PASD8; bHLHe78; HIF-1alpha; HIF1-ALPHA
    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]

    Genomic context

    Location :
    14q23.2
    Sequence :
    Chromosome: 14; NC_000014.8 (62162119..62214977)
    See HIF1A in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506751 Neighboring gene protein kinase C, eta Neighboring gene uncharacterized LOC400221 Neighboring gene small nuclear RNA activating complex, polypeptide 1, 43kDa Neighboring gene cytochrome c oxidase subunit IV isoform 1 pseudogene 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001521.1 NP_001659.1 ARNT    BIND  PubMed HIF-1alpha interacts with HIF-1beta 
    NP_001521.1 NP_848514.1 ARNT    BIND  PubMed HIF-1alpha isoform 1 interacts with HIF-1beta isoform 3 
    NP_001521.1 NP_478102.1 CDKN2A    BIND  PubMed p14ARF interacts with HIF-1alpha. 
    NP_001521.1 NP_006828.1 COPS5    BIND  PubMed Jab1 interacts with HIF-1alpha. 
    NP_001521.1 NP_071334.1 EGLN1    BIND  PubMed HIF-1 alpha interacts with PHD2. 
    NP_001521.1 NP_071356.1 EGLN3    BIND  PubMed HIF-1 alpha interacts with PHD3. 
    NP_001521.1 L16588.1 EPO    BIND  PubMed HIF1A (HIF-1-alpha) interacts with the EPO gene 3(prime) enhancer. 
    NP_001521.1 NP_006803.1 OS9    BIND  PubMed HIF-1 alpha interacts with OS-9. 
    NP_001521.1 NP_000312.1 RB1    BIND  PubMed RB1 (pRB) interacts with HIF1A (HIF-1-alpha). 
    NP_001521.1 NP_000537.2 TP53    BIND  PubMed HIF-1alpha interacts with p53 
    NP_001521.1 NP_000537.2 TP53    BIND  PubMed p53 interacts with HIF-1 alpha. 
    NP_001521.1 AF095785.1 VEGFA    BIND  PubMed HIF1A (HIF-1-alpha) interacts with the VEGF promoter. 
    NP_001521.1 NP_000542.1 VHL    BIND  PubMed HIF1A (HIF-1alpha) interacts with VHL. 
    NP_001521.1 NP_000542.1 VHL    BIND  PubMed The von Hippel-Lindau tumor suppressor protein (pVHL) interacts with Hypoxia inducible factor-alpha (HIF-1 alpha) 
    NP_001521.1 VHL    BIND  PubMed Hydroxylated HIF-1 alpha interacts with VHL. This interaction was modeled on a demonstrated interaction between human hydroxylated HIF-1 alpha and an unspecified isoform of VHL from an unspecified species. 
    NP_001521.1     BIND  PubMed HIF-1 alpha interacts with p53 dimer. 
    NP_001521.1     BIND  PubMed Hydroxylated HIF-1 alpha interacts with the ElonginBC-VHL complex. 
    NP_851397.1 NP_001659.1 ARNT    BIND  PubMed HIF-1alpha isoform 2 interacts with HIF-1beta isoform 1 
    NP_851397.1 NP_848514.1 ARNT    BIND  PubMed HIF-1alpha isoform 2 interacts with HIF-1beta isoform 3 
    NP_851397.1 NP_000537.2 TP53    BIND  PubMed p53 interacts with HIF-1 alpha. 
    NP_851397.1     BIND  PubMed HIF-1 alpha interacts with p53 dimer. 
    Q16665 P27695 APEX1    HPRD  PubMed  
    Q16665 P10275 AR    HPRD  PubMed  
    Q16665 P27540 ARNT    HPRD  PubMed  
    Q16665 Q9HBZ2 ARNT2    HPRD  PubMed  
    Q16665 O00327 ARNTL    HPRD  PubMed  
    Q16665 Q8N726 CDKN2A    HPRD  PubMed  
    Q16665 Q99967 CITED2    HPRD  PubMed  
    Q16665 Q92905 COPS5    HPRD  PubMed  
    Q16665 Q92793 CREBBP    HPRD  PubMed  
    Q16665 P68400 CSNK2A1    HPRD  PubMed  
    Q16665 P35222 CTNNB1    HPRD  PubMed  
    Q16665 P51398 DAP3    HPRD  PubMed  
    Q16665 Q9GZT9 EGLN1    HPRD  PubMed  
    Q16665 Q96KS0 EGLN2    HPRD  PubMed  
    Q16665 Q9H6Z9 EGLN3    HPRD  PubMed  
    Q16665 Q09472 EP300    HPRD  PubMed  
    Q16665 Q13547 HDAC1    HPRD  PubMed  
    Q16665 Q9NWT6 HIF1AN    HPRD  PubMed  
    Q16665 Hypoxia inducible factor 3 alpha subunit HIF3A    HPRD  PubMed  
    Q16665 P07900 HSP90AA1    HPRD  PubMed  
    Q16665 P05412 JUN    HPRD  PubMed  
    Q16665 P27361 MAPK3    HPRD  PubMed  
    Q16665 P61244 MAX    HPRD  PubMed  
    Q16665 Q00987 MDM2    HPRD  PubMed  
    Q16665 Q13330 MTA1    HPRD  PubMed  
    Q16665 P41227 NAA10    HPRD  PubMed  
    Q16665 ARD1 homolog B NAA11    HPRD  PubMed  
    Q16665 Q15788 NCOA1    HPRD  PubMed  
    Q16665 Q15596 NCOA2    HPRD  PubMed  
    Q16665 Q99608 NDN    HPRD  PubMed  
    Q16665 Q13438 OS9    HPRD  PubMed  
    Q16665 O15534 PER1    HPRD  PubMed  
    Q16665 P00558 PGK1    HPRD  PubMed  
    Q16665 O14818 PSMA7    HPRD  PubMed  
    Q16665 Q9UHD8 SEPT9    HPRD  PubMed  
    Q16665 P08047 SP1    HPRD  PubMed  
    Q16665 O60224 SSX4B    HPRD  PubMed  
    Q16665 P40763 STAT3    HPRD  PubMed  
    Q16665 P04637 TP53    HPRD  PubMed  
    Q16665 Testis specific, 1 TSGA10    HPRD  PubMed  
    Q16665 P40337 VHL    HPRD  PubMed  
    Q16665 Q6RSH7 VHLL    HPRD  PubMed  
    BioGRID:109338 BioGRID:106825 APEX1    BioGRID  PubMed Reconstituted Complex 
    NP_001659.1 ARNT    BIND  PubMed Arnt interacts with HIF1-alpha. 
    BioGRID:109338 BioGRID:106898 ARNT    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-localization; Reconstituted Complex; Two-hybrid 
    BioGRID:109338 BioGRID:106899 ARNTL    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:109338 BioGRID:120308 BANP    BioGRID  PubMed Affinity Capture-MS 
    Z85996.1 CDKN1A    BIND  PubMed HIF-1alpha interacts with CDKN1A promoter. 
    BioGRID:109338 BioGRID:127317 COMMD1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:107777 CREBBP    BioGRID  PubMed Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex; Two-hybrid 
    BioGRID:109338 BioGRID:114031 CUL2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:109338 BioGRID:113587 DAP3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109338 BioGRID:120060 EGLN1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:125184 EGLN2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109338 BioGRID:125185 EGLN3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109338 BioGRID:108347 EP300    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex 
    BioGRID:109338 BioGRID:116298 FAF1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:116806 FAF2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:120581 FBXW7    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:115671 GNB2L1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:109315 HDAC1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:109316 HDAC2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109338 BioGRID:114368 HDAC3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:115106 HDAC4    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:115331 HDAC5    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:115330 HDAC6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:120794 HIF1AN    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:109552 HSP90AA1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:109558 HSP90AB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:109540 HSPA4    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:109928 JUN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:110319 MAX    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:110340 MCM3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:110344 MCM7    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:110358 MDM2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:109338 BioGRID:114562 MTA1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:250505 Mapk1    BioGRID  PubMed Biochemical Activity 
    BioGRID:109338 BioGRID:113881 NAA10    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:114200 NCOA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109338 BioGRID:109407 NR4A1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:121014 NSFL1C    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:207880 Naa10    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:116156 OS9    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:109338 BioGRID:106652 PARP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:111661 PSMA7    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:111675 PSMC3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:202111 Per1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:116067 RUVBL2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:112210 SAT1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109338 BioGRID:125190 SAT2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:116015 SEPT9    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:112361 SHC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:112479 SMARCA2    BioGRID  PubMed Co-localization 
    BioGRID:109338 BioGRID:112481 SMARCA4    BioGRID  PubMed Co-localization 
    NP_612482.2 SP1    BIND  PubMed Sp1 interacts with HIF-1alpha. 
    BioGRID:109338 BioGRID:112550 SP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:112637 SSX4    BioGRID  PubMed Two-hybrid 
    BioGRID:109338 BioGRID:112651 STAT3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:115563 STUB1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:113188 SUMO1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:112783 TCEB1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:109338 BioGRID:112785 TCEB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109338 BioGRID:113010 TP53    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:109338 BioGRID:119239 UBXN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:117507 UBXN7    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:116077 USP20    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:109338 BioGRID:113258 VCP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109338 BioGRID:113269 VHL    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Co-crystal Structure; Protein-peptide; Reconstituted Complex 
    BioGRID:109338 BioGRID:133800 VHLL    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109338 BioGRID:246987 Vhl    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109338 BioGRID:115470 ZNF197    BioGRID  PubMed Affinity Capture-Western 
    NC_000002.9     BIND  PubMed HIF-1alpha interacts with MSH2 promoter. 
    NC_000002.9     BIND  PubMed HIF-1alpha interacts with MSH6 promoter. 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    B-1 B cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac ventricle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
     
    cellular response to hypoxia IEP
    Inferred from Expression Pattern
    more info
     
    cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to interleukin-1 IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    collagen metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    connective tissue replacement involved in inflammatory response wound healing ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    elastin metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    embryonic hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    hemoglobin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    lactate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA transcription from RNA polymerase II promoter IC
    Inferred by Curator
    more info
    PubMed 
    muscle cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of growth IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of mesenchymal cell apoptosis IEA
    Inferred from Electronic Annotation
    more info
     
    neural crest cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    neural fold elevation formation IEA
    Inferred from Electronic Annotation
    more info
     
    outflow tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    oxygen homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of angiogenesis IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of chemokine production TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of chemokine-mediated signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of endothelial cell proliferation IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of epithelial cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of erythrocyte differentiation IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of glycolysis IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of hormone biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of nitric-oxide synthase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of receptor biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription, DNA-dependent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-dependent IMP
    Inferred from Mutant Phenotype
    more info
     
    positive regulation of vascular endothelial growth factor receptor signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation vascular endothelial growth factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter in response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-dependent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-dependent TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of transforming growth factor beta2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to muscle activity IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vascular endothelial growth factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule-based flagellum IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    hypoxia-inducible factor 1-alpha
    Names
    hypoxia-inducible factor 1-alpha
    HIF-1-alpha
    member of PAS protein 1
    ARNT interacting protein
    ARNT-interacting protein
    member of PAS superfamily 1
    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 isoform I.3
    hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029606.1 RefSeqGene

      Range
      5001..57859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243084.1NP_001230013.1  hypoxia-inducible factor 1-alpha isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and uses an alternate in-frame acceptor splice site at the next exon compared to variant 1. This results in a longer isoform (3, also known as isoform I.3) with a distinct N-terminus compared to isoform 1. This isoform is transcriptionally active, and is upregulated in activated human T lymphocytes (PMID:18638657).
      Source sequence(s)
      BC012527, CN264320, FJ790247, X72726
      UniProtKB/TrEMBL
      C0LZJ3
      UniProtKB/Swiss-Prot
      Q16665
      Conserved Domains (5) summary
      cd00130
      Location:263362
      Blast Score: 173
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam08778
      Location:811850
      Blast Score: 198
      HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
      pfam08447
      Location:278363
      Blast Score: 201
      PAS_3; PAS fold
      pfam11413
      Location:573602
      Blast Score: 144
      HIF-1; Hypoxia-inducible factor-1
      cl00081
      Location:6192
      Blast Score: 83
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    2. NM_001530.3NP_001521.1  hypoxia-inducible factor 1-alpha isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.
      Source sequence(s)
      BC012527, CN264295, DC344032
      Consensus CDS
      CCDS9753.1
      UniProtKB/TrEMBL
      D0VY79
      UniProtKB/Swiss-Prot
      Q16665
      Related
      ENSP00000338018, OTTHUMP00000179061, ENST00000337138, OTTHUMT00000276977
      Conserved Domains (5) summary
      cd00130
      Location:239338
      Blast Score: 173
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam08778
      Location:787826
      Blast Score: 198
      HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
      pfam08447
      Location:254339
      Blast Score: 202
      PAS_3; PAS fold
      pfam11413
      Location:549578
      Blast Score: 143
      HIF-1; Hypoxia-inducible factor-1
      cl00081
      Location:3768
      Blast Score: 84
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    3. NM_181054.2NP_851397.1  hypoxia-inducible factor 1-alpha isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks the penultimate coding exon compared to variant 1. This results in a frame-shift, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB073325, BC012527, CN264295, DC344032
      Consensus CDS
      CCDS9754.1
      UniProtKB/Swiss-Prot
      Q16665
      Related
      ENSP00000323326, OTTHUMP00000179062, ENST00000323441, OTTHUMT00000276978
      Conserved Domains (4) summary
      cd00130
      Location:239338
      Blast Score: 173
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam08447
      Location:254339
      Blast Score: 200
      PAS_3; PAS fold
      pfam11413
      Location:549578
      Blast Score: 143
      HIF-1; Hypoxia-inducible factor-1
      cl00081
      Location:3768
      Blast Score: 85
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      62162119..62214977
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      42326005..42378869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF050127.1 AAC68568.1
    genomic AF208487.1 AAF20149.1
    genomic AL137129.4 (84762..137499) None
    genomic CH471061.1 EAW80806.1
      EAW80807.1
      EAW80808.1
      EAW80809.1
    mRNA AB073325.1 BAB70608.1
    mRNA AB500182.1 BAI49183.1
    mRNA AF207601.1 AAF20139.1
    mRNA AF207602.1 AAF20140.1
    mRNA AF304431.1 AAG43026.1
    mRNA AJ227916.1 None
    mRNA AK093749.1 None
    mRNA AK296876.1 BAG59438.1
    mRNA AK299551.1 BAG61496.1
    mRNA AK304315.1 BAG65167.1
    mRNA AK304436.1 BAG65259.1
    mRNA AK312397.1 BAG35314.1
    mRNA AU123241.1 None
    mRNA BC012527.2 AAH12527.1
    mRNA BT009776.1 AAP88778.1
    mRNA BX648795.1 None
    mRNA CN264295.1 None
    mRNA CN264320.1 None
    mRNA DC344032.1 None
    mRNA FJ790247.1 ACN88547.1
    mRNA U22431.1 AAC50152.1
    mRNA U29165.1 AAC51210.1
    mRNA X72726.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16665.1 GenPept UniProtKB/Swiss-Prot:Q16665

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