HIF1A Gene
protein-coding GIFtS : 71
GCID: GC14 P062162
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix...
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Aliasesfor HIF1A gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Hypoxia Inducible Factor 1, Alpha Subunit (Basic Helix-Loop-HelixTranscription Factor) 1 2 PAS Domain-Containing Protein 82 3 MOP11 2 3 5 HIF-1A2 PASD81 2 3 HIF1-ALPHA2 BHLHe781 ARNT Interacting Protein2 HIF-1alpha1 2 Hypoxia-Inducible Factor 1 Alpha Isoform I.32 HIF11 2 Hypoxia-Inducible Factor 1, Alpha Subunit (Basic Helix-Loop-Helix TranscriptionFactor)2 Basic-Helix-Loop-Helix-PAS Protein MOP12 3 Hypoxia-Inducible Factor 1-Alpha2 Class E Basic Helix-Loop-Helix Protein 782 3 Hypoxia-Inducible Factor1alpha2 Member Of PAS Protein 12 3 Member Of PAS Superfamily 12 HIF-1-Alpha1 BHLHE783 ARNT-Interacting Protein2 3 HIF1-Alpha1
Export aliases for HIF1A gene to outside databases Previous GC identifers: GC14P059488 GC14P055956 GC14P060152 GC14P061231 GC14P042326
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Summariesfor HIF1A gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for HIF1A : 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) UniProtKB/Swiss-Prot: HIF1A_HUMAN, Q16665 Function : Functions as a master transcriptional regulator of the adaptive response to hypoxia. Under hypoxicconditions, 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 Gene Wiki entry for HIF1A
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Genomic Viewsfor HIF1A gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000014.8 NC_018925.1 NT_026437.12 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HIF1A gene promoter: AML1a Other transcription factors Search SABiosciences Chromatin IP Primers for HIF1A Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat HIF1A
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 14q23.2 Ensembl cytogenetic band: 14q23.2 HGNC cytogenetic band: 14q23.2 HIF1A Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 14 GeneLoc Exon Structure
GeneLoc location for GC14P062162: view genomic region
(about GC identifiers )
Start:
62,162,119 bp from pter
End:
62,214,977 bp from pter
Size:
52,859 bases
Orientation:
plus strand
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Proteinsfor HIF1A gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: HIF1A_HUMAN, Q16665 (See
protein sequence )Recommended Name: Hypoxia-inducible factor 1-alpha Size : 826 amino acids; 92670 Da
Subunit : Interacts with the HIF1A beta/ARNT subunit; heterodimerization is required for DNA binding. Interacts withCOPS5; 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 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 GNB2L1/RACK1; promotes HIF1A ubiquitination and proteasome-mediated degradation. Interacts (via N-terminus) with USP19
Subcellular location : Cytoplasm. Nucleus. Note=Cytoplasmic in normoxia, nuclear translocation in response to hypoxia.Colocalizes with SUMO1 in the nucleus, under hypoxia
6/13 PDB 3D structures from and Proteopedia for HIF1A (see all 13 ):1D7G (3D)
  1H2K (3D)
  1H2L (3D)
  1H2M (3D)
  1L3E (3D)
  1L8C (3D)
 
Secondary accessions : C0LZJ3 Q53XP6 Q96PT9 Q9UPB1Alternative splicing : 3 isoforms : Q16665-1 Q16665-2 Q16665-3 (Up-regulated in peripheral T lymphocytes after T-cell receptor stimulation. Highest expression in peripheral blood leukocytes and thymus)Explore the universe of human proteins at neXtProt for HIF1A: NX_Q16665 Post-translational modifications:
In normoxia, is hydroxylated on Pro-402 and Pro-564 in the oxygen-dependent degradation domain (ODD) by EGLN1/PHD1 and EGLN2/PHD2. 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 stabilization1
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, Clioquinol1
S-nitrosylation of Cys-800 may be responsible for increased recruitment of p300 coactivator necessary for transcriptional activity of HIF-1 complex1
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 proteasome1
Sumoylated; with SUMO1 under hypoxia. Sumoylation is enhanced through interaction with RWDD3. Desumoylation by SENP1 leads to increased HIF1A stability and transriptional activity (By similarity)1
Ubiquitinated; 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-8031
The iron and 2-oxoglutarate dependent 3-hydroxylation of asparagine is (S) stereospecific within HIF CTAD domains1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q16665 HIF1A Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (3 alternative transcripts):
NP_001230013.1 NP_001521.1 NP_851397.1 ENSEMBL proteins: ENSP00000338018 ENSP00000378446 ENSP00000323326 ENSP00000451696 ENSP00000437955 Reactome Protein details: Q16665 Human Recombinant Protein Products: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
HIF1A for ontologies About GeneDecksing HIF1A Antibody Products: Assay Products for HIF1A:
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Protein
Domains / Familiesfor HIF1A gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
HIF1A for domains About GeneDecksing 5/8 InterPro domains/families (see all 8 ):
Graphical View of Domain Structure for InterPro Entry Q16665 ProtoNet protein and cluster: Q16665
4 Blocks protein families : IPB000014 PAS domain IPB001092 Basic helix-loop-helix dimerization domain bHLH IPB001321 Hypoxia-inducible factor-1 alpha signature IPB013655 PAS fold-3 UniProtKB/Swiss-Prot: HIF1A_HUMAN, Q16665 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) Similarity : Contains 1 bHLH (basic helix-loop-helix) domainSimilarity : Contains 1 PAC (PAS-associated C-terminal) domainSimilarity : Contains 2 PAS (PER-ARNT-SIM) domains
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Functionfor HIF1A gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: HIF1A_HUMAN, Q16665 Function : Functions as a master transcriptional regulator of the adaptive response to hypoxia. Under hypoxicconditions, 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 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 entry for HIF1A : 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 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HIF1A (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HIF1A (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): HIF1A (NM_001530 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HIF1A Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HIF1A
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIF1A
Gene Ontology (GO): 5/18 molecular function terms (GO ID links to tree view) (see all 18 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0000988 protein binding transcription factor activity
IDA -- GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
IEA -- GO:0003677 DNA binding
-- -- GO:0003700 sequence-specific DNA binding transcription factor activity
TAS 15261140 GO:0003704 specific RNA polymerase II transcription factor activity
-- --
HIF1A for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for HIF1A :Animal Models: Mouse knock-outs for HIF1A: Hif1a tm1.1Stom Hif1a tm1Jhu Hif1a tm1Mcs Hif1a tm1Rsjo Hif1a tm1Kats Hif1a tm1Pec 15/23 MGI mutant phenotypes (inferred from 11 alleles ) (MGI details for Hif1a) (see all 23 ):
HIF1A for phenotypes About GeneDecksing
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Pathways & Interactionsfor HIF1A gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/24 super-pathways (see all 24 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant 2 Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha 3 Development_CNTF receptor signaling 4 Regulation of Gene Expression by Hypoxia-inducible Factor 5 Translocation of HIF-alpha from Cytosol to Nucleus
Pathway sources See GeneCards unified pathways Show all pathways 3 EMD Millipore Pathways for HIF1A 5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HIF1A 2
Cell Signaling Technology (CST) Pathways for HIF1A 3 GeneGo (Thomson Reuters) Pathways for HIF1A 5/10 BioSystems Pathways for HIF1A (see all 10 ) 5/21
Reactome Pathways for HIF1A (see all 21 )3
Kegg Pathways (Kegg details for HIF1A) :
HIF1A for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HIF1A STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/393 Interacting proteins for HIF1A (Q16665 1 , 2 , 3 ENSP00000338018 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 393 )Interactant Interaction Details GeneCard External ID(s) EP300 Q09472 1 , 2 , 3 , ENSP00000263253 4 EBI-447269,EBI-3908041 MINT-4791660 MINT-4791678 MINT-6802121 MINT-7943730 MINT-6802156 MINT-4652938 MINT-4791632 MINT-7943746 I2D:
score=7 STRING: ENSP00000263253 VHL P40337 1 , 2 , 3 , ENSP00000256474 4 EBI-447269,EBI-301246 MINT-6543069 MINT-1957453 MINT-1957650 I2D:
score=9 STRING: ENSP00000256474 HIF1AN Q9NWT6 1 , 2 , 3 , ENSP00000299163 4 EBI-447269,EBI-745632 MINT-6802187 I2D:
score=4 STRING: ENSP00000299163 MTA1 Q13330 2 , 3 , ENSP00000333633 4 MINT-1957363 MINT-1957385 MINT-1957313 MINT-1957331 MINT-1957284 MINT-1957260 I2D:
score=3 STRING: ENSP00000333633 SP1 P08047 2 , 3 , ENSP00000329357 4 MINT-3378435 MINT-3378397 MINT-3378454 I2D:
score=5 STRING: ENSP00000329357
About this table Gene Ontology (GO): 5/80 biological process terms (GO ID links to tree view) (see all 80 ): About this table
HIF1A for ontologies About GeneDecksing
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Drugs & Compoundsfor HIF1A gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
HIF1A for compounds About GeneDecksing
Enzo Life Sciences drugs & compounds for HIF1A
Browse Tocris compounds for HIF1A 1 DrugBank Compound for HIF1A About this table 10/132 Novoseek chemical compound relationships for HIF1A gene (see all 132 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
vegf
92.5
2009
15256117 (9), 16964427 (9), 18025805 (9), 20003271 (9) (see all 99 )
cobalt chloride
84.7
46
18715655 (2), 16149050 (2), 18490575 (2), 16109785 (1) (see all 29 )
cocl2
79
70
16489029 (3), 12215445 (3), 17474992 (3), 15525582 (2) (see all 36 )
oxygen
78.4
471
12378005 (4), 15862307 (4), 15967517 (4), 17272744 (4) (see all 99 )
pimonidazole
74.4
24
16456867 (4), 12829158 (4), 17289019 (2), 15623619 (2) (see all 9 )
deferoxamine
69.7
101
18371939 (5), 16527254 (4), 18459142 (4), 15878351 (3) (see all 44 )
ly294002
65.6
46
11585776 (3), 10749120 (1), 11457733 (1), 15623602 (1) (see all 31 )
2-methoxyestradiol
65.5
23
15336552 (3), 19429018 (2), 19809499 (2), 18202195 (1) (see all 12 )
rapamycin
64
99
17230506 (4), 16849522 (3), 19190131 (3), 19002496 (2) (see all 45 )
geldanamycin
62.3
35
16432534 (6), 11980636 (4), 12811834 (3), 16228978 (3) (see all 11 )
Search CenterWatch for drugs/clinical trials and news about HIF1A
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Transcriptsfor HIF1A gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for HIF1A gene (3 alternative transcripts): NM_001243084.1 NM_001530.3 NM_181054.2 Unigene Clusters for HIF1A:
Hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) Hs.597216 [show with all ESTs ] , Hs.719495 [show with all ESTs ] Unigene Representative Sequences: NM_001530 , BF794025 13 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000557446 ENST00000553999 ENST00000337138 (uc010tsc.1 uc001xfq.2 uc001xfr.2 )ENST00000394997 (uc001xfs.2 uc021rua.1 ) ENST00000323441 ENST00000557538 ENST00000557206 ENST00000556237 ENST00000555014 ENST00000554177 ENST00000547430 ENST00000556827 ENST00000539097 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HIF1A (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HIF1A (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): HIF1A (NM_001530 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HIF1A Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HIF1A
Additional cDNA sequence: AJ227916.1
24/32 DOTS entries (see all 32 ): DT.448859 DT.120747150
DT.100828291 DT.120747034 DT.95328228 DT.120747024 DT.95361808 DT.100828293 DT.100828298 DT.120747160 DT.40132945 DT.92035848 DT.95241728 DT.95361839 DT.97813592 DT.100672723 DT.100828289 DT.100828296 DT.120747179 DT.75110718 DT.75130521 DT.92456711 DT.95072045 DT.95146965 7 AceView cDNA sequences :
AK093749 BF869719 AI510796 AV648847 BF848384 BU664561 AW800170 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for HIF1A About this scheme ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 SP1 :             -                         SP2 :             -                         SP3 :             -                     -     SP4 :                                    
ECgene alternative splicing isoforms for HIF1A
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Expression for HIF1A gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section HIF1A expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TAGATTTCAA
About this image HIF1A expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See HIF1A Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HIF1A SOURCE GeneReport for Unigene clusters: Hs.597216 Hs.719495 UniProtKB/Swiss-Prot: HIF1A_HUMAN, Q16665 Tissue specificity : Expressed in most tissues with highest levels in kidney and heart. Overexpressed in the majority ofcommon 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 SABiosciences Expression via Pathway-Focused PCR Arrays including HIF1A (see all 15 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HIF1ABrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat HIF1A QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HIF1A QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HIF1A In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIF1A
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Orthologsfor HIF1A gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for HIF1A gene from 6/21 species (see all 21 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
HIF1A1
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix more
79.2(n) 79.65(a)
 
374177 NM_204297.1 NP_989628.1
lizard (Anolis carolinensis)
Reptilia
HIF1A6
--
76(a)
1 ↔ 1
1(3186934-3208207)
African clawed frog (Xenopus laevis)
Amphibia
hif1a-prov2
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix more
77.2(n)
 
BC043769.1
zebrafish (Danio rerio)
Actinopterygii
zgc554052
similar to hypoxia-inducible factor 1, alpha subunit more
72.89(n)
 
393202 BC046875.1
fruit fly (Drosophila melanogaster)
Insecta
sima1 , 3
regulation of transcription, DNA-dependent RNA more 3 similar1
41(a) 3 45.05(n) 1 36.34(a) 1
 
43580 1 NM_079845.3 1 NP_524584.2 1
worm (Caenorhabditis elegans)
Secernentea
hlh-346 hif-16
Helix-loop-helix 34HIF (hypoxia inducible factor) homolog family memb...
25(a) 16(a)
possible ortholog1 ↔ many
V(13705963-13707347) V(20780380-20785227)
ENSEMBL Gene Tree for HIF1A (if available)TreeFam Gene Tree for HIF1A (if available)
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Paralogsfor HIF1A gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for HIF1A gene ARNT2 2 CLOCK 2 NPAS2 2 ARNT 2 EPAS1 2 NPAS3 2 SIM2 2 SIM1 2 HIF3A 2 ARNTL 2 ARNTL2 2 NPAS1 2 4 SIMAP similar genes for HIF1A using alignment to 4 protein entries: HIF1A_HUMAN (see all proteins ):EPAS1 SIM2 NPAS3 HIF3A
HIF1A for paralogs About GeneDecksing 1 Pseudogenes.org Pseudogene for HIF1A PGOHUM00000247859
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Genomic Variantsfor HIF1A gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 14 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for HIF1A (62162119 - 62214977 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for HIF1A: -- Human Gene Mutation Database (HGMD) : HIF1A SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HIF1A
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Disorders
/ Diseasesfor HIF1A gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
HIF1A for disorders About GeneDecksing
OMIM gene information: 603348
OMIM disorders : --20/241 diseases for HIF1A (see all 241 ): About MalaCards hypoxia von hippel-lindau disease sprinting performance alveolar soft part sarcoma middle ear cholesteatoma peutz-jeghers syndrome diffuse large b-cell lymphoma endolymphatic sac tumor proliferative diabetic retinopathy age related macular degeneration acute mountain sickness arteriovenous malformation fibrous histiocytoma dna topoisomerase i renal clear cell carcinoma non-small cell lung carcinoma critical limb ischemia adenomatous polyposis coli lichen planus congenital diaphragmatic hernia 2 diseases from the University of Copenhagen DISEASES database for HIF1A :Cancer Vascular disease 10/97 Novoseek disease relationships for HIF1A gene (see all 97 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
tumors
76.9
1247
12795846 (6), 18025805 (6), 19893619 (6), 19689405 (5) (see all 99 )
cancer
70.5
378
19080625 (5), 19689405 (4), 20078552 (4), 17914567 (3) (see all 99 )
solid tumor
68.7
36
16682946 (2), 10945599 (2), 18503779 (2), 17404022 (1) (see all 27 )
renal clear cell carcinoma
68.5
24
11431362 (5), 15062033 (3), 16600797 (3), 17064593 (3) (see all 11 )
carcinoma renal cell
64.5
76
19526589 (4), 19816521 (4), 16109571 (2), 17922867 (2) (see all 48 )
metastasis
62.8
235
20164027 (5), 16251878 (4), 15849727 (4), 17028975 (4) (see all 99 )
neovascularization
57.5
12
18528739 (2), 15786555 (2), 10640274 (1), 16552951 (1) (see all 10 )
retinal neovascularization
55.9
8
18853324 (3), 15834450 (1), 18307947 (1), 18767037 (1)
aggressiveness
53.8
16
17088993 (1), 20431729 (1), 20514449 (1), 16103077 (1) (see all 14 )
prostate cancer
50
126
9850048 (4), 16954428 (4), 19102499 (4), 15791851 (3) (see all 61 )
Genetic Association Database (GAD): HIF1A Human Genome Epidemiology (HuGE) Navigator: HIF1A (88 documents) Export disorders for HIF1A gene to outside databases
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Publicationsfor HIF1A gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for HIF1A gene, integrated from 9 sources (see all 2700 ): (articles sorted by number of sources associating them with HIF1A) Utopia : connect your pdf to the dynamic world of online information
Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway. (PubMed id 9079689) 1 , 2 , 3, 9 Hogenesch J.B.... Bradfield C.A. (1997) HIF-1 alpha protein as a target for S-nitrosation. (PubMed id 12560087) 1 , 2 , 9 Sumbayev V.V.... Bruene B. (2003) Mechanism of regulation of the hypoxia-inducible factor-1 alpha by the von Hippel-Lindau tumor suppressor protein. (PubMed id 10944113) 1 , 2 , 9 Tanimoto K.... Poellinger L. (2000) Sumoylation increases HIF-1alpha stability and its transcriptional activity. (PubMed id 15465032) 1 , 2 , 9 Bae S.-H....Kim K.-W. (2004) Interaction between HIF-1 alpha (ODD) and hARD1 does not induce acetylation and destabilization of HIF-1 alpha. (PubMed id 16288748) 1 , 2 , 9 Arnesen T.... Lillehaug J.R. (2005) VHL protein-interacting deubiquitinating enzyme 2 deubiquitinates and stabilizes HIF-1alpha. (PubMed id 15776016) 1 , 2 , 9 Li Z.... Wu G. (2005) Sequence variation in hypoxia-inducible factor 1alpha (HIF1A): association with maximal oxygen consumption. (PubMed id 12865501) 1 , 4, 9 Prior S.J....Roth S.M. (2003) Functional role of p35srj, a novel p300/CBP binding protein, during transactivation by HIF-1. (PubMed id 9887100) 1 , 2 , 9 Bhattacharya S....Livingston D.M. (1999) Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension. (PubMed id 7539918) 1 , 2 , 9 Wang G.L.... Semenza G.L. (1995) Common single nucleotide polymorphism of hypoxia-inducible factor-1alpha and its impact on the clinicopathological features of esophageal squamous cell carcinoma. (PubMed id 16246222) 1 , 4, 9 Ling T.S....Ding X.F. (2005)
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External Searches for HIF1A gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing HIF1A gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing HIF1A gene
(According to HUGE )
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Specialized Databases showing HIF1A gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for HIF1A gene: Search GeneIP for patents involving HIF1A GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor HIF1A gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for HIF1A OriGene shRNA RFP for HIF1A OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for HIF1A OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HIF1A OriGene Protein Over-expression Lysate for HIF1A Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for HIF1A OriGene 3'-UTR Clone for HIF1A OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HIF1A OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HIF1A Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for HIF1A OriGene Custom Protein Services for HIF1A OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HIF1A QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HIF1A QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat HIF1A QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat HIF1A QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HIF1A QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HIF1A
Antibodies & Assays for HIF1A  
Search Tocris compounds for HIF1A
Recombinant Protein for HIF1A
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIF1A
ThermoFisher Antibody for HIF1A
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HIF1A
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