HIF1A Gene (Protein Coding)

Hypoxia Inducible Factor 1 Subunit Alpha

GC14P061695
GIFtS:
49
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 ... See more...

Aliases for HIF1A Gene

Aliases for HIF1A Gene

  • Hypoxia Inducible Factor 1 Subunit Alpha 2 3 5
  • BHLHe78 2 3 4
  • PASD8 2 3 4
  • MOP1 2 3 4
  • Hypoxia Inducible Factor 1, Alpha Subunit (Basic Helix-Loop-Helix Transcription Factor) 2 3
  • Class E Basic Helix-Loop-Helix Protein 78 3 4
  • Basic-Helix-Loop-Helix-PAS Protein MOP1 3 4
  • Hypoxia-Inducible Factor 1-Alpha 3 4
  • PAS Domain-Containing Protein 8 3 4
  • Member Of PAS Protein 1 3 4
  • HIF-1-Alpha 3 4
  • HIF-1alpha 2 3
  • HIF1 2 3
  • Hypoxia Inducible Factor 1 Alpha Subunit 3
  • Hypoxia-Inducible Factor1alpha 3
  • Member Of PAS Superfamily 1 3
  • ARNT Interacting Protein 3
  • ARNT-Interacting Protein 4
  • HIF1-ALPHA 3
  • HIF1-Alpha 4
  • BHLHE78 4
  • HIF-1A 3
  • HIF1A 5

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]

CIViC Summary for HIF1A Gene

GeneCards Summary for HIF1A Gene

HIF1A (Hypoxia Inducible Factor 1 Subunit Alpha) is a Protein Coding gene. Diseases associated with HIF1A include Hypoxia and Retinal Ischemia. Among its related pathways are Notch-mediated HES/HEY network and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is EPAS1.

UniProtKB/Swiss-Prot Summary 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. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Activation requires recruitment of transcriptional coactivators such as CREBBP 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.
  • (Microbial infection) Upon infection by human coronavirus SARS-CoV-2, is required for induction of glycolysis in monocytes and the consequent proinflammatory state (PubMed:32697943). In monocytes, induces expression of ACE2 and cytokines such as IL1B, TNF, IL6, and interferons (PubMed:32697943). Promotes human coronavirus SARS-CoV-2 replication and monocyte inflammatory response (PubMed:32697943).

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

Additional gene information for HIF1A Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HIF1A Gene

Genomics for HIF1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for HIF1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HIF1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HIF1A

Top Transcription factor binding sites by QIAGEN in the HIF1A gene promoter:
  • AML1a

Genomic Locations for HIF1A Gene

Latest Assembly
chr14:61,695,513-61,748,259
(GRCh38/hg38)
Size:
52,747 bases
Orientation:
Plus strand

Previous Assembly
chr14:62,162,231-62,214,977
(GRCh37/hg19 by Entrez Gene)
Size:
52,747 bases
Orientation:
Plus strand

chr14:62,162,231-62,214,976
(GRCh37/hg19 by Ensembl)
Size:
52,746 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 Structure • Gene Density

RefSeq DNA sequence for HIF1A Gene

Proteins for HIF1A Gene

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  • 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 ARNT; forms a heterodimer that binds core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (PubMed:10944113, PubMed:20699359). 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. Interacts with HSP90AA1 and HSP90AB1 (PubMed:26517842). Interacts with DCUN1D1; this interaction increases the interaction between VHL and DCUN1D1 (PubMed:23401859).
    Miscellaneous:
    • [Isoform 3]: Up-regulated in peripheral T-lymphocytes after T-cell receptor stimulation. Highest expression in peripheral blood leukocytes and thymus.

    Three dimensional structures from OCA and Proteopedia for HIF1A Gene

    Alternative splice isoforms for HIF1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HIF1A Gene

Post-translational modifications for HIF1A Gene

  • S-nitrosylation of Cys-800 may be responsible for increased recruitment of p300 coactivator necessary for transcriptional activity of HIF-1 complex.
  • 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.
  • 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.
  • 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).
  • 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.
  • In normoxia, is hydroxylated on Pro-402 and Pro-564 in the oxygen-dependent degradation domain (ODD) by EGLN1/PHD2 and EGLN2/PHD1 (PubMed:11292861, PubMed:11566883, PubMed:12351678, PubMed:15776016, PubMed:25974097). EGLN3/PHD3 has also been shown to hydroxylate Pro-564 (PubMed:11292861, PubMed:11566883, PubMed:12351678, PubMed:15776016, PubMed:25974097). The hydroxylated prolines promote interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation (PubMed:11292861, PubMed:11566883, PubMed:12351678, PubMed:15776016, PubMed:25974097). Deubiquitinated by USP20 (PubMed:11292861, PubMed:11566883, PubMed:12351678, PubMed:15776016, PubMed:25974097). Under hypoxia, proline hydroxylation is impaired and ubiquitination is attenuated, resulting in stabilization (PubMed:11292861, PubMed:11566883, PubMed:12351678, PubMed:15776016, PubMed:25974097). In normoxia, is hydroxylated on Asn-803 by HIF1AN, thus abrogating interaction with CREBBP and EP300 and preventing transcriptional activation (PubMed:12080085). This hydroxylation is inhibited by the Cu/Zn-chelator, Clioquinol (PubMed:12080085). Repressed by iron ion, via Fe(2+) prolyl hydroxylase (PHD) enzymes-mediated hydroxylation and subsequent proteasomal degradation (PubMed:28296633).
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of asparagine is (S) stereospecific within HIF CTAD domains.
  • Ubiquitination at Lys185, Lys251, Lys297, Lys377, Lys532, Lys538, Lys547, and Lys709
  • Modification sites at PhosphoSitePlus

Other Protein References for HIF1A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for HIF1A Gene

Domains & Families for HIF1A Gene

Gene Families for HIF1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HIF1A Gene

InterPro:
Blocks:
  • PAS domain
  • Basic helix-loop-helix dimerization domain bHLH
  • PAS fold-3
  • Hypoxia-inducible factor-1 alpha signature
ProtoNet:

Suggested Antigen Peptide Sequences for HIF1A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57096, highly similar to Hypoxia-inducible factor 1 alpha (B4E2U7_HUMAN)
  • Hypoxia-inducible factor 1, alpha subunit, variant K12NR (D0VY79_HUMAN)
  • PAS domain-containing protein 8 (HIF1A_HUMAN)

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).
genes like me logo Genes that share domains with HIF1A: view

Function for HIF1A Gene

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Molecular function for HIF1A Gene

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. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Activation requires recruitment of transcriptional coactivators such as CREBBP 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 Function:
(Microbial infection) Upon infection by human coronavirus SARS-CoV-2, is required for induction of glycolysis in monocytes and the consequent proinflammatory state (PubMed:32697943). In monocytes, induces expression of ACE2 and cytokines such as IL1B, TNF, IL6, and interferons (PubMed:32697943). Promotes human coronavirus SARS-CoV-2 replication and monocyte inflammatory response (PubMed:32697943).
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.
UniProtKB/Swiss-Prot EnzymeRegulation:
Induced by reactive oxygen species (ROS).
UniProtKB/Swiss-Prot EnzymeRegulation:
(Microbial infection) In monocytes, human coronavirus SARS-CoV-2 increases HIF1A levels and activity which promotes a proinflammatory state.
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

Phenotypes From GWAS Catalog for HIF1A Gene

Gene Ontology (GO) - Molecular Function for HIF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 19782034
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA,ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA,IMP 24983504
GO:0002039 p53 binding IPI 15629713
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 Models for research

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIF1A

Clone products for research

  • Addgene plasmids for HIF1A

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HIF1A gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
extracellular 3
cytoskeleton 3
mitochondrion 3
endoplasmic reticulum 3
lysosome 3
peroxisome 2
endosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HIF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA,ISA --
GO:0005634 nucleus IDA 8089148
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IPI 9576906
GO:0005737 cytoplasm IEA,IDA 19651758
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

Pathways by source for HIF1A Gene

1 Sino Biological pathway for HIF1A Gene
3 GeneGo (Thomson Reuters) pathways for HIF1A Gene
  • Development_Leptin signaling via JAK/STAT and MAPK cascades
  • Transcription Ligand-dependent activation of the ESR1/SP pathway
  • Transcription Receptor-mediated HIF regulation
5 Qiagen pathways for HIF1A Gene
  • HIF1Alpha Pathway
  • ILK Signaling
  • Molecular Mechanisms of Cancer
  • mTOR Pathway
  • p53 Signaling
2 Cell Signaling Technology pathways for HIF1A Gene
2 GeneTex pathways for HIF1A Gene

SIGNOR curated interactions for HIF1A Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for HIF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species IDA 32697943
GO:0001525 angiogenesis IEA --
GO:0001568 blood vessel development IEA --
GO:0001666 response to hypoxia IEA,IMP 12411310
GO:0001755 neural crest cell migration IEA --
genes like me logo Genes that share ontologies with HIF1A: view

Drugs & Compounds for HIF1A Gene

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(104) 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 242
Carvedilol Approved, Investigational Pharma Target, modulator 204
Hydralazine Approved Pharma Target, inducer 58
Axitinib Approved, Investigational Pharma Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 160
Sorafenib Approved, Investigational Pharma Raf kinases and tyrosine kinases inhibitor, RAF, VEGFR2, and PDGFR-beta inhibitors, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 795

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
TC-S 7009
1422955-31-4

(4) Tocris Compounds for HIF1A Gene

Compound Action Cas Number
Echinomycin Highly potent and selective HIF-1alpha inhibitor 512-64-1
KC7F2 HIF-1alpha inhibitor; down-regulates HIF-1alpha protein synthesis 927822-86-4
ML 228 HIF pathway activator 1357171-62-0
TC-S 7009 High affinity and selective HIF-2alpha inhibitor 1422955-31-4

(11) ApexBio Compounds for HIF1A Gene

Compound Action Cas Number
BAY 87-2243 HIF-1 inhibitor,potent and selective 1227158-85-1
Chetomin A4505 inhibitor 1403-36-7
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
KC7F2 HIF-1α inhibitor 927822-86-4
ML 228 HIF pathway activator 1357171-62-0
Molidustat (BAY85-3934) Novel HIF-PH inhibitor 1154028-82-6
PX 12 Trx-1 inhibitor 141400-58-0
PX-478 2HCl HIF-1α inhibitor 685898-44-6
YC 1 inhibitor of HIF-1α 170632-47-0
genes like me logo Genes that share compounds with HIF1A: view

Transcripts for HIF1A Gene

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mRNA/cDNA for HIF1A Gene

3 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIF1A

Clone products for research

  • Addgene plasmids for HIF1A

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

Expression for HIF1A Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HIF1A Gene

mRNA expression in normal human tissues for HIF1A Gene
mRNA expression by BioGPS for HIF1A GenemRNA expression by GTEx for HIF1A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HIF1A

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.

Evidence on tissue expression from TISSUES for HIF1A Gene

  • Nervous system(5)
  • Liver(4.7)
  • Lung(4.4)
  • Kidney(4.1)
  • Skin(4.1)
  • Intestine(3.9)
  • Heart(3.8)
  • Bone marrow(3.7)
  • Blood(3.7)
  • Spleen(3.6)
  • Muscle(3.4)
  • Lymph node(3.4)
  • Pancreas(3.3)
  • Adrenal gland(3.2)
  • Eye(3)
  • Stomach(3)
  • Thyroid gland(3)
  • Gall bladder(2.9)
  • Bone(2.7)
genes like me logo Genes that share expression patterns with HIF1A: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
 Mammalia HIF1A 30 31
  • 99.92 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia HIF1A 30 31
  • 94.29 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia HIF1A 30 31
  • 94.21 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Hif1a 30 17 31
  • 88.79 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Hif1a 30
  • 88.63 (n)
Oppossum
(Monodelphis domestica)
 Mammalia HIF1A 31
  • 84 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia HIF1A 31
  • 79 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves HIF1A 30 31
  • 79.2 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia HIF1A 31
  • 76 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia hif1a-prov 30
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia Str.10694 30
Zebrafish
(Danio rerio)
 Actinopterygii hif1ab 30 31
  • 67.87 (n)
 OneToOne
zgc55405 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8039 30
Fruit Fly
(Drosophila melanogaster)
 Insecta sima 31 32
  • 16 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea hif-1 31
  • 22 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 28 (a)
 OneToMany
Species where no ortholog for HIF1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HIF1A: view image

Paralogs for HIF1A Gene

Paralogs for HIF1A Gene

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

  • HIF1A_HUMAN
  • A8MYV6_HUMAN
  • D0VY79_HUMAN
  • F8W9L0_HUMAN

Pseudogenes.org Pseudogenes for HIF1A Gene

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

Variants for HIF1A Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HIF1A Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
988324 Pathogenic: not provided 61,721,575(+) G/A
NM_001530.4(HIF1A):c.293G>A (p.Gly98Asp) 		MISSENSE
rs112401635 Benign: not provided 61,734,128(+) T/TC
NM_001530.4(HIF1A):c.881-4dup 		INTRON
rs113805602 Benign: not provided 61,727,650(+) T/C
NM_001530.4(HIF1A):c.768T>C (p.Asp256=) 		SYNONYMOUS
rs141997782 Benign: not provided 61,732,424(+) C/T
NM_001530.4(HIF1A):c.780C>T (p.Thr260=) 		SYNONYMOUS
rs142179458 Benign: not provided 61,736,905(+) G/A
NM_001530.4(HIF1A):c.1045G>A (p.Asp349Asn) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HIF1A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv3721n54 CNV loss 21841781
nsv1131145 CNV deletion 24896259
nsv1300 CNV deletion 18451855
nsv564884 CNV loss 21841781
nsv952848 CNV duplication 24416366

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)

Additional Variant Information for HIF1A Gene

Human Gene Mutation Database (HGMD)
HIF1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIF1A

SNP Genotyping and Copy Number Assays for research

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

Disorders for HIF1A Gene

MalaCards: The human disease database

(147) MalaCards diseases for HIF1A Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hypoxia
retinal ischemia
polycythemia
  • erythrocythemia
ischemia
  • acute coronary syndrome
aging
- elite association - COSMIC cancer census association via MalaCards
Search HIF1A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HIF1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 JB … Bradfield CA (The Journal of biological chemistry 1997) 2 3 4 23
  2. Mutational analysis of hypoxia-related genes HIF1alpha and CUL2 in common human cancers. (PMID: 20078552) Park SW … Lee SH (APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2009) 3 23 41
  3. Exploratory study evaluating the association of polymorphisms of angiogenesis genes with hot flashes. (PMID: 18785001) Schneider BP … Sledge GW (Breast cancer research and treatment 2009) 3 23 41
  4. Non-synonymous sequence variants within the oxygen-dependent degradation domain of the HIF1A gene are not associated with pre-eclampsia in the Finnish population. (PMID: 18980686) Heino S … Laivuori H (BMC medical genetics 2008) 3 23 41
  5. Two hypoxia sensor genes and their association with symptoms of acute mountain sickness in Sherpas. (PMID: 18998488) Droma Y … Kubo K (Aviation, space, and environmental medicine 2008) 3 23 41

ExternalLinks

View latest publications for HIF1A gene in Mastermind

Products for HIF1A Gene