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Aliases for HIF1A Gene

Aliases for HIF1A Gene

  • Hypoxia Inducible Factor 1 Alpha Subunit 2 3
  • Hypoxia Inducible Factor 1, Alpha Subunit (Basic Helix-Loop-Helix Transcription Factor) 2 3 5
  • Class E Basic Helix-Loop-Helix Protein 78 3 4
  • Basic-Helix-Loop-Helix-PAS Protein MOP1 3 4
  • PAS Domain-Containing Protein 8 3 4
  • ARNT-Interacting Protein 3 4
  • Member Of PAS Protein 1 3 4
  • HIF-1-Alpha 3 4
  • HIF1-ALPHA 3 4
  • BHLHe78 3 4
  • PASD8 3 4
  • MOP1 3 4
  • Hypoxia-Inducible Factor 1, Alpha Subunit (Basic Helix-Loop-Helix Transcription Factor) 3
  • Hypoxia-Inducible Factor 1 Alpha Isoform I.3 3
  • Hypoxia-Inducible Factor1alpha 3
  • Member Of PAS Superfamily 1 3
  • ARNT Interacting Protein 3
  • HIF-1alpha 3
  • HIF-1A 3
  • HIF1 3

External Ids for HIF1A Gene

Previous GeneCards Identifiers for HIF1A Gene

  • GC14P059488
  • GC14P055956
  • GC14P060152
  • GC14P061231
  • GC14P062162
  • GC14P042326

Summaries for HIF1A Gene

Entrez Gene Summary for HIF1A Gene

  • 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]

GeneCards Summary for HIF1A Gene

HIF1A (Hypoxia Inducible Factor 1 Alpha Subunit) is a Protein Coding gene. Diseases associated with HIF1A include hypoxia and retinal ischemia. Among its related pathways are Central carbon metabolism in cancer and Phospholipase D signaling pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HIF3A.

UniProtKB/Swiss-Prot for HIF1A Gene

  • Functions as a master transcriptional regulator of the adaptive response to hypoxia. 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. Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Binds to core DNA sequence 5-[AG]CGTG-3 within the hypoxia response element (HRE) of target gene promoters. Activation requires recruitment of transcriptional coactivators such as CREBPB and EP300. Activity is enhanced by interaction with both, NCOA1 or NCOA2. Interaction with redox regulatory protein APEX seems to activate CTAD and potentiates activation by NCOA1 and CREBBP. Involved in the axonal distribution and transport of mitochondria in neurons during hypoxia.

Tocris Summary for HIF1A Gene

  • Hypoxia Inducible Factors (HIFs) are transcription factors that are activated in response to decreased oxygen availability in the cellular environment. They influence cell metabolism, cell survival and angiogenesis to maintain biological homeostasis.

Gene Wiki entry for HIF1A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIF1A Gene

Genomics for HIF1A Gene

Regulatory Elements for HIF1A Gene

Enhancers for HIF1A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HIF1A on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the HIF1A gene promoter:

Genomic Location for HIF1A Gene

Chromosome:
14
Start:
61,695,401 bp from pter
End:
61,748,259 bp from pter
Size:
52,859 bases
Orientation:
Plus strand

Genomic View for HIF1A Gene

Genes around HIF1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIF1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIF1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIF1A Gene

Proteins for HIF1A Gene

  • Protein details for HIF1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16665-HIF1A_HUMAN
    Recommended name:
    Hypoxia-inducible factor 1-alpha
    Protein Accession:
    Q16665
    Secondary Accessions:
    • C0LZJ3
    • Q53XP6
    • Q96PT9
    • Q9UPB1

    Protein attributes for HIF1A Gene

    Size:
    826 amino acids
    Molecular mass:
    92670 Da
    Quaternary structure:
    • Interacts with the HIF1A beta/ARNT subunit; heterodimerization is required for DNA binding. Interacts with COPS5; the interaction increases the transcriptional activity of HIF1A through increased stability (By similarity). Interacts with EP300 (via TAZ-type 1 domains); the interaction is stimulated in response to hypoxia and inhibited by CITED2. Interacts with CREBBP (via TAZ-type 1 domains). Interacts with NCOA1, NCOA2, APEX and HSP90. Interacts (hydroxylated within the ODD domain) with VHLL (via beta domain); the interaction, leads to polyubiquitination and subsequent HIF1A proteasomal degradation. During hypoxia, sumoylated HIF1A also binds VHL; the interaction promotes the ubiquitination of HIF1A. Interacts with SENP1; the interaction desumoylates HIF1A resulting in stabilization and activation of transcription. Interacts (Via the ODD domain) with ARD1A; the interaction appears not to acetylate HIF1A nor have any affect on protein stability, during hypoxia. Interacts with RWDD3; the interaction enhances HIF1A sumoylation. Interacts with TSGA10 (By similarity). Interacts with HIF3A (By similarity). Interacts with RORA (via the DNA binding domain); the interaction enhances HIF1A transcription under hypoxia through increasing protein stability. Interaction with PSMA7 inhibits the transactivation activity of HIF1A under both normoxic and hypoxia-mimicking conditions. Interacts with USP20. Interacts with RACK1; promotes HIF1A ubiquitination and proteasome-mediated degradation. Interacts (via N-terminus) with USP19. Interacts with SIRT2. Interacts (deacetylated form) with EGLN1. Interacts with CBFA2T3.

    Three dimensional structures from OCA and Proteopedia for HIF1A Gene

    Alternative splice isoforms for HIF1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HIF1A Gene

Proteomics data for HIF1A Gene at MOPED

Post-translational modifications for HIF1A Gene

  • Acetylation of Lys-532 by ARD1 increases interaction with VHL and stimulates subsequent proteasomal degradation (PubMed:12464182). Deacetylation of Lys-709 by SIRT2 increases its interaction with and hydroxylation by EGLN1 thereby inactivating HIF1A activity by inducing its proteasomal degradation (PubMed:24681946).
  • In normoxia, is hydroxylated on Asn-803 by HIF1AN, thus abrogating interaction with CREBBP and EP300 and preventing transcriptional activation. This hydroxylation is inhibited by the Cu/Zn-chelator, Clioquinol.
  • In normoxia, is hydroxylated on Pro-402 and Pro-564 in the oxygen-dependent degradation domain (ODD) by EGLN1/PHD2 and EGLN2/PHD1. EGLN3/PHD3 has also been shown to hydroxylate Pro-564. The hydroxylated prolines promote interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation. Deubiquitinated by USP20. Under hypoxia, proline hydroxylation is impaired and ubiquitination is attenuated, resulting in stabilization.
  • Polyubiquitinated; in normoxia, following hydroxylation and interaction with VHL. Lys-532 appears to be the principal site of ubiquitination. Clioquinol, the Cu/Zn-chelator, inhibits ubiquitination through preventing hydroxylation at Asn-803. Ubiquitinated by a CUL2-based E3 ligase.
  • Requires phosphorylation for DNA-binding. Phosphorylation at Ser-247 by CSNK1D/CK1 represses kinase activity and impairs ARNT binding. Phosphorylation by GSK3-beta and PLK3 promote degradation by the proteasome.
  • S-nitrosylation of Cys-800 may be responsible for increased recruitment of p300 coactivator necessary for transcriptional activity of HIF-1 complex.
  • Sumoylated; with SUMO1 under hypoxia. Sumoylation is enhanced through interaction with RWDD3. Both sumoylation and desumoylation seem to be involved in the regulation of its stability during hypoxia. Sumoylation can promote either its stabilization or its VHL-dependent degradation by promoting hydroxyproline-independent HIF1A-VHL complex binding, thus leading to HIF1A ubiquitination and proteasomal degradation. Desumoylation by SENP1 increases its stability amd transcriptional activity. There is a disaccord between various publications on the effect of sumoylation and desumoylation on its stability and transcriptional activity.
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of asparagine is (S) stereospecific within HIF CTAD domains.
  • Ubiquitination at Lys 185, Lys 251, Lys 297, Lys 377, Lys 532, Lys 538, and Lys 547
  • Modification sites at PhosphoSitePlus

Other Protein References for HIF1A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HIF1A (HIF1A)

No data available for DME Specific Peptides for HIF1A Gene

Domains & Families for HIF1A Gene

Gene Families for HIF1A Gene

Graphical View of Domain Structure for InterPro Entry

Q16665

UniProtKB/Swiss-Prot:

HIF1A_HUMAN :
  • Contains two independent C-terminal transactivation domains, NTAD and CTAD, which function synergistically. Their transcriptional activity is repressed by an intervening inhibitory domain (ID).
Domain:
  • Contains two independent C-terminal transactivation domains, NTAD and CTAD, which function synergistically. Their transcriptional activity is repressed by an intervening inhibitory domain (ID).
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Contains 1 PAC (PAS-associated C-terminal) domain.
  • Contains 2 PAS (PER-ARNT-SIM) domains.
genes like me logo Genes that share domains with HIF1A: view

Function for HIF1A Gene

Molecular function for HIF1A Gene

GENATLAS Biochemistry:
hypoxia-inducible factor 1,alpha subunit,complexing with HIF2A and HIF2B (ANRT) for activation of genes involved in metabolism,angiogenesis,erythropoiesis and glycolysis through the recruitement of the CBP/p300 co-activator,rapidly degraded by proteasome under normoxic conditions,binding to VHL,involved (essential) in cardiovascular development and systemic 02 homeostasis
UniProtKB/Swiss-Prot Function:
Functions as a master transcriptional regulator of the adaptive response to hypoxia. 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. Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Binds to core DNA sequence 5-[AG]CGTG-3 within the hypoxia response element (HRE) of target gene promoters. Activation requires recruitment of transcriptional coactivators such as CREBPB and EP300. Activity is enhanced by interaction with both, NCOA1 or NCOA2. Interaction with redox regulatory protein APEX seems to activate CTAD and potentiates activation by NCOA1 and CREBBP. Involved in the axonal distribution and transport of mitochondria in neurons during hypoxia.
UniProtKB/Swiss-Prot Induction:
Under reduced oxygen tension. Induced also by various receptor-mediated factors such as growth factors, cytokines, and circulatory factors such as PDGF, EGF, FGF2, IGF2, TGFB1, HGF, TNF, IL1B/interleukin-1 beta, angiotensin-2 and thrombin. However, this induction is less intense than that stimulated by hypoxia. Repressed by HIPK2 and LIMD1.

Gene Ontology (GO) - Molecular Function for HIF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with HIF1A: view
genes like me logo Genes that share phenotypes with HIF1A: view

Animal Models for HIF1A Gene

MGI Knock Outs for HIF1A:

Animal Model Products

miRNA for HIF1A Gene

miRTarBase miRNAs that target HIF1A
Targeted motifs for HIF1A Gene
HOMER Transcription Factor Regulatory Elements motif HIF1A
  • Consensus sequence: TACGTGCV Submotif: canonical Cell Type: MCF7 GEO ID: GSE28352

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for HIF1A Gene

Localization for HIF1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIF1A Gene

Cytoplasm. Nucleus. Nucleus speckle. Note=Colocalizes with HIF3A in the nucleus and speckles (By similarity). Cytoplasmic in normoxia, nuclear translocation in response to hypoxia (PubMed:9822602). {ECO:0000250 UniProtKB:Q61221}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HIF1A Gene COMPARTMENTS Subcellular localization image for HIF1A gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 2
extracellular 2
mitochondrion 2
plasma membrane 2
endoplasmic reticulum 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for HIF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0090575 RNA polymerase II transcription factor complex IDA 7539918
genes like me logo Genes that share ontologies with HIF1A: view

Pathways & Interactions for HIF1A Gene

genes like me logo Genes that share pathways with HIF1A: view

SIGNOR curated interactions for HIF1A Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HIF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001568 blood vessel development IEA --
GO:0001755 neural crest cell migration IEA --
GO:0001837 epithelial to mesenchymal transition IEA,ISS 18037992
GO:0001892 embryonic placenta development IEA --
genes like me logo Genes that share ontologies with HIF1A: view

Drugs & Compounds for HIF1A Gene

(88) Drugs for HIF1A Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nitroglycerin Approved, Investigational Pharma inhibitor, stimulator 144
Carvedilol Approved, Investigational Pharma Antagonist, Target, modulator 156
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1835
N-[(1-CHLORO-4-HYDROXYISOQUINOLIN-3-YL)CARBONYL]GLYCINE Experimental Pharma Target 0
2-Methoxyestradiol Investigational Pharma Target 9

(62) Additional Compounds for HIF1A Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
IOX 2
931398-72-0
KC7F2
927822-86-4
ML 228
1357171-62-0
PX 12
141400-58-0

(5) Tocris Compounds for HIF1A Gene

Compound Action Cas Number
DMOG Prolyl hydroxylase inhibitor 89464-63-1
IOX 2 Potent, selective HIF-1alpha prolyl hydroxylase-2 (PHD2) inhibitor 931398-72-0
KC7F2 HIF-1alpha inhibitor; down-regulates HIF-1alpha protein synthesis 927822-86-4
ML 228 HIF pathway activator 1357171-62-0
PX 12 Thioredoxin-1 inhibitor 141400-58-0

(4) ApexBio Compounds for HIF1A Gene

Compound Action Cas Number
BAY 87-2243 HIF-1 inhibitor,potent and selective 1227158-85-1
DMOG Competitive HIF-PH inhibitor, cell-permeable 89464-63-1
FG-4592 (ASP1517) HIF prolyl-hydroxylase inhibitor 808118-40-3
IOX2(Glycine) HIF-1α prolyl hydroxylase-2 (PHD2) inhibitor 931398-72-0
genes like me logo Genes that share compounds with HIF1A: view

Drug Products

Transcripts for HIF1A Gene

mRNA/cDNA for HIF1A Gene

(3) REFSEQ mRNAs :
(21) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HIF1A Gene

Hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HIF1A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP2: -
SP3: - -
SP4:

Relevant External Links for HIF1A Gene

GeneLoc Exon Structure for
HIF1A
ECgene alternative splicing isoforms for
HIF1A

Expression for HIF1A Gene

mRNA expression in normal human tissues for HIF1A Gene

SOURCE GeneReport for Unigene cluster for HIF1A Gene Hs.597216

mRNA Expression by UniProt/SwissProt for HIF1A Gene

Q16665-HIF1A_HUMAN
Tissue specificity: Expressed in most tissues with highest levels in kidney and heart. Overexpressed in the majority of common human cancers and their metastases, due to the presence of intratumoral hypoxia and as a result of mutations in genes encoding oncoproteins and tumor suppressors. A higher level expression seen in pituitary tumors as compared to the pituitary gland.
genes like me logo Genes that share expression patterns with HIF1A: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for HIF1A Gene

Orthologs for HIF1A Gene

This gene was present in the common ancestor of animals.

Orthologs for HIF1A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HIF1A 35
  • 94.21 (n)
  • 95.63 (a)
HIF1A 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HIF1A 35
  • 94.29 (n)
  • 95.87 (a)
HIF1A 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hif1a 35
  • 88.79 (n)
  • 90.38 (a)
Hif1a 16
Hif1a 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HIF1A 35
  • 99.92 (n)
  • 99.88 (a)
HIF1A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hif1a 35
  • 88.63 (n)
  • 90.74 (a)
oppossum
(Monodelphis domestica)
Mammalia HIF1A 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HIF1A 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves HIF1A 35
  • 79.2 (n)
  • 79.65 (a)
HIF1A 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HIF1A 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10694 35
African clawed frog
(Xenopus laevis)
Amphibia hif1a-prov 35
zebrafish
(Danio rerio)
Actinopterygii hif1ab 35
  • 67.87 (n)
  • 72.91 (a)
zgc55405 35
hif1ab 36
  • 61 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8039 35
fruit fly
(Drosophila melanogaster)
Insecta sima 37
  • 41 (a)
sima 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hif-1 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToMany
Species with no ortholog for HIF1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HIF1A Gene

ENSEMBL:
Gene Tree for HIF1A (if available)
TreeFam:
Gene Tree for HIF1A (if available)

Paralogs for HIF1A Gene

Paralogs for HIF1A Gene

(4) SIMAP similar genes for HIF1A Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for HIF1A Gene

genes like me logo Genes that share paralogs with HIF1A: view

Variants for HIF1A Gene

Sequence variations from dbSNP and Humsavar for HIF1A Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_015854 -
VAR_049541 -
VAR_049542 -
rs7143164 -- 61,700,037(+) TTAGA(C/G)AAATC intron-variant
rs3062105 -- 61,705,422(+) CTATT(-/AAAC)AAAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HIF1A Gene

Variant ID Type Subtype PubMed ID
nsv902008 CNV Loss 21882294
nsv1300 CNV Loss 18451855

Variation tolerance for HIF1A Gene

Residual Variation Intolerance Score: 5.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.30; 70.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HIF1A Gene

HapMap Linkage Disequilibrium report
HIF1A
Human Gene Mutation Database (HGMD)
HIF1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIF1A Gene

Disorders for HIF1A Gene

MalaCards: The human disease database

(46) MalaCards diseases for HIF1A Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypoxia
retinal ischemia
renal clear cell carcinoma
  • clear cell carcinoma of kidney
intravascular papillary endothelial hyperplasia
  • masson's pseudoangiosarcoma
kidney cancer
  • renal cell carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search HIF1A in MalaCards View complete list of genes associated with diseases

Relevant External Links for HIF1A

Genetic Association Database (GAD)
HIF1A
Human Genome Epidemiology (HuGE) Navigator
HIF1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HIF1A
genes like me logo Genes that share disorders with HIF1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HIF1A Gene

Publications for HIF1A Gene

  1. Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway. (PMID: 9079689) Hogenesch J.B. … Bradfield C.A. (J. Biol. Chem. 1997) 2 3 4 67
  2. Hypoxia induced paclitaxel resistance in human ovarian cancers via hypoxia-inducible factor 1alpha. (PMID: 19760195) Huang L. … Ma D. (J. Cancer Res. Clin. Oncol. 2010) 3 23
  3. Expression of HIF-1 alpha, VEGF and EPO in peripheral blood from patients with two cardiac abnormalities associated with hypoxia. (PMID: 19804771) Lemus-Varela M.L. … Beas-ZA!rate C. (Clin. Biochem. 2010) 3 23
  4. The role of redox-dependent mechanisms in the downregulation of ligand-induced Toll-like receptors 7, 8 and 4-mediated HIF-1 alpha prolyl hydroxylation. (PMID: 19841637) Nicholas S.A. … Sumbayev V.V. (Immunol. Cell Biol. 2010) 3 23
  5. Hepatitis C virus-linked mitochondrial dysfunction promotes hypoxia-inducible factor 1 alpha-mediated glycolytic adaptation. (PMID: 19846525) Ripoli M. … Piccoli C. (J. Virol. 2010) 3 23

Products for HIF1A Gene

  • Addgene plasmids for HIF1A

Sources for HIF1A Gene

Content