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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
External Ids for HIF1A Gene
- HGNC: 4910
- Entrez Gene: 3091
- Ensembl: ENSG00000100644
- OMIM: 603348
- UniProtKB: Q16665
Previous GeneCards Identifiers for HIF1A Gene
- GC14P059488
- GC14P055956
- GC14P060152
- GC14P061231
- GC14P062162
- GC14P042326
Summaries 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 Subunit Alpha) is a Protein Coding gene. Diseases associated with HIF1A include Hypoxia and Retinal Ischemia. Among its related pathways are Signaling by PTK6 and HIF1Alpha Pathway. 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.
-
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.
Additional gene information for HIF1A Gene
- HGNC(4910)
- Entrez Gene(3091)
- Ensembl(ENSG00000100644)
- OMIM(603348)
- UniProtKB(Q16665)
- Open Targets Platform(ENSG00000100644)
- Monarch Initiative
- Search for HIF1A at DataMed
- Search for HIF1A at HumanCyc
No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HIF1A Gene
Genomics for HIF1A Gene
GeneHancer (GH) Regulatory Elements Pubs
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
Genomic Locations for HIF1A Gene
- chr14:61,695,513-61,748,259
- (GRCh38/hg38)
- Size:
- 52,747 bases
- Orientation:
- Plus strand
- chr14:62,162,119-62,214,977
- (GRCh37/hg19)
- 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:
-
- 14q23.2 by HGNC
- 14q23.2 by Entrez Gene
- 14q23.2 by Ensembl
HIF1A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
- 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
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
- NX_Q16665 (NX_Q16665-1)
- Modification sites at PhosphoSitePlus
Other Protein References for HIF1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ HIF1A Antibody
- NSJ Bioreagents HIF1A Antibody / HIF-1 alpha (Recombinant Rabbit Monoclonal)
-
Custom Antibody ServicesOriGene Antibodies for HIF1A
- AB0070-100
- AB0112-200
- AM06608SU-N
- AM50284PU-S
- AM50284PU-T
- AP14543PU-N
- AP20633PU-N
- AP23253PU-N
- AP54986SU-N
- AP54987SU-N
- TA309689
- TA309690
- TA309691
- TA319212
- TA319213
- TA324790
- TA325528
- TA326476
- TA329159
- TA335200
- TA336260
- TA336308
- TA336484
- TA336704
- TA336763
- TA336764
- TA336765
- TA336766
- TA351581
- TA354706
- TA811847
- TA811847S
- Novus Biologicals Antibodies for HIF1A
-
Abcam antibodies for HIF1A
- Invitrogen Antibodies for HIF1A (AFLGC-HIF1A)
- antibodies-online: Show 156 available HIF1A Antibodies ranked by validation data
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-
Recommended
- 255 WB Antibodies (anti-mouse)
- 27 IHC (p) Antibodies (anti-mouse)
- 18 FACS Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 8 IHC Antibodies (anti-mouse)
- 4 IP Antibodies (anti-mouse)
- 1 PLA Antibody (anti-mouse)
- 489 WB Antibodies (anti-human)
- 46 IF Antibodies (anti-human)
- 35 IHC (p) Antibodies (anti-human)
- 22 FACS Antibodies (anti-human)
- 17 IHC Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 7 IP Antibodies (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 1 PLA Antibody (anti-human)
- 216 WB Antibodies (anti-rat)
- 26 IHC (p) Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 7 FACS Antibodies (anti-rat)
- 7 IHC Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 1 PLA Antibody (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for HIF1A
- Sino Biological Antibodies for HIF1A
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for HIF1A
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- Sino Biological Recombinant Proteins for HIF1A
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for HIF1A
-
Abcam proteins for HIF1A
Assay Products
- antibodies-online: Show 107 available HIF1A Elisa Kits ranked by validation data
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-
Quality Products:
- ABIN6574209
- ABIN6720481
- ABIN1115458
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- ABIN366532
- ABIN4889776
- ABIN1081535
- ABIN1570296
- ABIN2703085
- ABIN5524605
- ABIN1115461
- ABIN424082
- ABIN367879
- ABIN5524606
- ABIN1570297
- ABIN5526864
- ABIN2344926
- ABIN5670215
- ABIN1081536
- ABIN416136
- ABIN1115459
- ABIN368077
- ABIN5524609
- ABIN1570299
- ABIN5670897
- ABIN1081538
- ABIN627134
- ABIN5594627
- ABIN992977
- ABIN1137712
-
Abcam assays for HIF1A
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
Q16665UniProtKB/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).
Function for HIF1A Gene
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 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.
- 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
| 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,ISM | 19274049 |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA,IMP | 24983504 |
| GO:0002039 | p53 binding | IPI | 15629713 |
Phenotypes for HIF1A Gene
- MGI mutant phenotypes for HIF1A:
-
inferred from 12 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for HIF1A:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Increased cell death HMECs cells
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased viability ratio
- Strongly decreased CFP-tsO45G cell surface transport
- Increased shRNA abundance (Z-score > 2)
- Increased shRNA abundance
- Decreased shRNA abundance (Z-score < -2)
- Decreased caspase 3/7 activity
Animal Models for HIF1A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HIF1A - Select products 50% OFF >
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HIF1A
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIF1A
miRNA for HIF1A Gene
- miRTarBase miRNAs that target HIF1A
-
- hsa-miR-20a-5p (MIRT000002)
- hsa-miR-519c-3p (MIRT000496)
- hsa-miR-20b-5p (MIRT000498)
- mmu-miR-20b-5p (MIRT000680)
- mmu-miR-199a-5p (MIRT001183)
- mmu-miR-31-5p (MIRT002278)
- hsa-miR-107 (MIRT004487)
- hsa-miR-18a-5p (MIRT004587)
- hsa-miR-17-5p (MIRT004588)
- hsa-miR-424-5p (MIRT005926)
- hsa-miR-199a-5p (MIRT006138)
- hsa-miR-138-5p (MIRT006744)
- hsa-miR-199b-5p (MIRT007022)
- hsa-miR-33a-5p (MIRT028216)
- mmu-miR-107-3p (MIRT035544)
- hsa-miR-106b-3p (MIRT038587)
- hsa-let-7b-5p (MIRT051936)
- bta-miR-31 (MIRT053898)
- hsa-miR-210-3p (MIRT054349)
- mmu-miR-210-3p (MIRT054623)
- hsa-miR-3121-3p (MIRT070721)
- hsa-miR-3668 (MIRT070723)
- hsa-miR-6815-3p (MIRT070728)
- hsa-miR-589-3p (MIRT070730)
- hsa-miR-889-3p (MIRT070731)
- hsa-miR-935 (MIRT070733)
- hsa-miR-1910-3p (MIRT070734)
- hsa-miR-3074-3p (MIRT070735)
- hsa-miR-5094 (MIRT070737)
- hsa-miR-6511a-5p (MIRT070739)
- hsa-miR-6755-5p (MIRT070740)
- hsa-miR-6806-5p (MIRT070741)
- hsa-miR-93-5p (MIRT070742)
- hsa-miR-106a-5p (MIRT070743)
- hsa-miR-106b-5p (MIRT070745)
- hsa-miR-519d-3p (MIRT070750)
- hsa-miR-4282 (MIRT070774)
- hsa-miR-8055 (MIRT138601)
- hsa-miR-153-5p (MIRT191495)
- hsa-miR-18b-5p (MIRT191496)
- hsa-miR-3662 (MIRT191501)
- hsa-miR-4735-3p (MIRT191502)
- hsa-miR-576-3p (MIRT191510)
- hsa-miR-151a-3p (MIRT279526)
- hsa-miR-5681b (MIRT279539)
- hsa-miR-155-5p (MIRT398178)
- hsa-miR-5692a (MIRT398180)
- hsa-miR-22-3p (MIRT437403)
- rno-miR-206-3p (MIRT437888)
- hsa-miR-21-5p (MIRT437916)
- mmu-miR-106a-5p (MIRT438768)
- hsa-miR-5089-3p (MIRT536880)
- hsa-miR-4662a-5p (MIRT536881)
- hsa-miR-1322 (MIRT536882)
- hsa-miR-509-5p (MIRT547974)
- hsa-miR-509-3-5p (MIRT547975)
- hsa-miR-4418 (MIRT547976)
- hsa-miR-6807-3p (MIRT547977)
- hsa-miR-217 (MIRT547978)
- hsa-miR-4799-5p (MIRT547979)
- hsa-miR-4463 (MIRT547980)
- hsa-miR-4499 (MIRT547981)
- hsa-miR-329-5p (MIRT557309)
- hsa-miR-4748 (MIRT557310)
- hsa-miR-4464 (MIRT557311)
- hsa-miR-449c-5p (MIRT557312)
- hsa-miR-34b-5p (MIRT557313)
- hsa-miR-2682-5p (MIRT557314)
- hsa-miR-940 (MIRT557315)
- hsa-miR-6893-5p (MIRT557316)
- hsa-miR-6808-5p (MIRT557317)
- hsa-miR-106a-3p (MIRT557318)
- hsa-miR-299-5p (MIRT557319)
- mmu-miR-129-5p (MIRT589850)
- mmu-miR-5101 (MIRT589851)
- mmu-miR-101a-3p (MIRT589852)
- mmu-miR-144-3p (MIRT589853)
- mmu-miR-101b-3p (MIRT589854)
- hsa-miR-4470 (MIRT702956)
- hsa-miR-4487 (MIRT702957)
- hsa-miR-558 (MIRT702958)
- hsa-miR-3160-3p (MIRT702959)
- hsa-miR-3128 (MIRT702960)
- hsa-miR-625-3p (MIRT702961)
- hsa-miR-548ah-5p (MIRT702962)
- hsa-miR-3609 (MIRT702963)
- hsa-miR-494-3p (MIRT702964)
- hsa-miR-142-5p (MIRT731348)
- hsa-miR-27a-3p (MIRT731838)
- rno-miR-433-3p (MIRT731848)
- hsa-miR-433-3p (MIRT731849)
- mmu-miR-18a-5p (MIRT731915)
- hsa-miR-429 (MIRT732516)
- hsa-miR-338-3p (MIRT733004)
- hsa-miR-186-5p (MIRT733159)
- bta-miR-155 (MIRT733508)
- bta-miR-199a-5p (MIRT733509)
- hsa-miR-138-1-3p (MIRT733856)
- hsa-miR-145-5p (MIRT734225)
- hsa-miR-200c-5p (MIRT734294)
- hsa-miR-497-3p (MIRT734722)
- mmu-miR-17-3p (MIRT734989)
Targeted motifs for HIF1A Gene
HOMER Transcription Factor Regulatory Elements motif HIF1A
- Consensus sequence: TACGTGCV Submotif: canonical Cell Type: MCF7 GEO ID: GSE28352
miRNA Products
Inhibitory RNA Products
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Clone Products
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Cell Line Products
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Horizon Cell Lines 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}.
| 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 |
- Nucleoplasm (4)
- Nuclear bodies (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IDA,ISA | -- |
| GO:0005623 | cell | IEA | -- |
| GO:0005634 | nucleus | IBA,IDA | 8089148 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IPI | 9576906 |
Pathways & Interactions for HIF1A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of activated PAK-2p34 by proteasome mediated degradation | ||
| 2 | HIF Repressors |
.38
.38
|
|
| 3 | Signaling by NOTCH1 | ||
| 4 | Signaling by PTK6 |
.01
|
|
| 5 | Notch Signaling Pathway (WikiPathways) | ||
Pathways by source for HIF1A Gene
1 Sino Biological pathway for HIF1A Gene
17 BioSystems pathways for HIF1A Gene
23 Reactome pathways for HIF1A Gene
12 KEGG pathways 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
3 R&D Systems pathways for HIF1A Gene
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
Interacting Proteins for HIF1A Gene
Selected Interacting proteins:
Q16665-HIF1A_HUMAN
ENSP00000437955
for HIF1A Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for HIF1A
SIGNOR curated interactions for HIF1A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| 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 | -- |
| GO:0001837 | epithelial to mesenchymal transition | IEA,ISS | 18037992 |
Drugs & Compounds for HIF1A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Nitroglycerin | Approved, Investigational | Pharma | inhibitor, stimulator | 229 | ||
| Carvedilol | Approved, Investigational | Pharma | Antagonist, Target, modulator | 199 | ||
| Hydralazine | Approved | Pharma | Target, inducer | 57 | ||
| Axitinib | Approved, Investigational | Pharma | Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors | 144 | ||
| 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 | 779 |
| 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 |
Transcripts for HIF1A Gene
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 :
-
- ENST00000323441 3555 nts (view in UCSC)
- ENST00000337138 3946 nts (view in UCSC)
- ENST00000394997 3922 nts (view in UCSC)
- ENST00000539097 3956 nts (view in UCSC)
- ENST00000547430 711 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HIF1A - Select products 50% OFF >
- * HIF1A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
Santa Cruz Biotechnology (SCBT) CRISPR for HIF1A
miRNA Products
Inhibitory RNA Products
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Clone Products
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HIF1A
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HIF1A
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Cartilage (Muscoskeletal System)
- Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
- Brain (Nervous System)
- Bone (Muscoskeletal System)
- Mesenchymal Stem Cells
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HIF1A
SOURCE GeneReport for Unigene cluster for HIF1A Gene:
Hs.597216mRNA 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(4.8)
- Lung(4.4)
- Kidney(4.3)
- Skin(4.2)
- Intestine(4.1)
- Heart(4)
- Blood(4)
- Bone marrow(3.9)
- Spleen(3.7)
- Muscle(3.7)
- Lymph node(3.6)
- Pancreas(3.5)
- Adrenal gland(3.4)
- Eye(3.2)
- Stomach(3.2)
- Thyroid gland(3.1)
- Gall bladder(3)
- Bone(3)
- Urine(2.2)
Primer Products
-
OriGene qPCR primer pairs for HIF1A
-
OriGene qPCR primer pairs and template standards for HIF1A
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HIF1A 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HIF1A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HIF1A 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Hif1a 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hif1a 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | HIF1A 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HIF1A 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HIF1A 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | HIF1A 31 |
|
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 |
|
OneToOne | |
| zgc55405 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8039 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | sima 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | hif-1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
(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
Variants for HIF1A Gene
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 |
|---|---|---|---|---|---|
| 709474 | Benign: not provided | 61,746,956(+) | G/A | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
| 716592 | Benign: not provided | 61,736,905(+) | G/A | MISSENSE_VARIANT | |
| 716776 | Benign: not provided | 61,740,835(+) | G/A | SYNONYMOUS_VARIANT | |
| 722908 | Likely Benign: not provided | 61,738,343(+) | C/T | SYNONYMOUS_VARIANT | |
| 723203 | Benign: not provided | 61,737,102(+) | C/G | SYNONYMOUS_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIF1A Gene
Disorders for HIF1A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypoxia |
|
|
| retinal ischemia |
|
|
| polycythemia |
|
|
| aging |
|
|
| limb ischemia |
|
|
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 of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for HIF1A Gene
Publications for HIF1A Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for HIF1A Gene
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