Gene Gene information from NCBI Gene database.
Entrez ID 3091
Gene name Hypoxia inducible factor 1 subunit alpha
Gene symbol HIF1A
Synonyms (NCBI Gene)
HIF-1-alphaHIF-1AHIF-1alphaHIF1HIF1-ALPHAMOP1PASD8bHLHe78
Chromosome 14
Chromosome location 14q23.2
Summary This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia
miRNA miRNA information provided by mirtarbase database.
630
miRTarBase ID miRNA Experiments Reference
MIRT000498 hsa-miR-20b-5p qRT-PCRELISAChIPWestern blot 20232316
MIRT000496 hsa-miR-519c-3p Luciferase reporter assayqRT-PCRWestern blot 20233879
MIRT004487 hsa-miR-107 qRT-PCRLuciferase reporter assayWestern blotNorthern blot 20308559
MIRT000002 hsa-miR-20a-5p Luciferase reporter assayWestern blotNorthern blot 18632605
MIRT000002 hsa-miR-20a-5p Luciferase reporter assayWestern blotNorthern blot 18632605
Transcription factors Transcription factors information provided by TRRUST V2 database.
26
Transcription factor Regulation Reference
ARNT Activation 14764593
BRCA1 Unknown 16543242
EGR1 Activation 18506761
FOXO4 Repression 12761217;20136501
HDAC7 Activation 20693714
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
191
GO ID Ontology Definition Evidence Reference
GO:0000302 Process Response to reactive oxygen species IDA 32697943
GO:0000785 Component Chromatin IDA 19782034
GO:0000785 Component Chromatin ISA
GO:0000791 Component Euchromatin IEA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603348 4910 ENSG00000100644
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16665
Protein name Hypoxia-inducible factor 1-alpha (HIF-1-alpha) (HIF1-alpha) (ARNT-interacting protein) (Basic-helix-loop-helix-PAS protein MOP1) (Class E basic helix-loop-helix protein 78) (bHLHe78) (Member of PAS protein 1) (PAS domain-containing protein 8)
Protein function Functions as a master transcriptional regulator of the adaptive response to hypoxia (PubMed:11292861, PubMed:11566883, PubMed:15465032, PubMed:16973622, PubMed:17610843, PubMed:18658046, PubMed:20624928, PubMed:22009797, PubMed:30125331, PubMed:
PDB 1H2K , 1H2L , 1H2M , 1L3E , 1L8C , 1LM8 , 1LQB , 2ILM , 3HQR , 3HQU , 4AJY , 4H6J , 5JWP , 5L9B , 5L9V , 5LA9 , 5LAS , 6GFX , 6GMR , 6YW3 , 7LVS , 7QGS , 8HE0 , 8HE3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00989 PAS 90 188 PAS fold Domain
PF08447 PAS_3 252 339 PAS fold Domain
PF11413 HIF-1 551 581 Hypoxia-inducible factor-1 Family
PF08778 HIF-1a_CTAD 789 825 HIF-1 alpha C terminal transactivation domain Domain
Tissue specificity 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 o
Sequence
MEGAGGANDKKKISSERRKEKSRDAARSRRSKESEVFYELAHQLPLPHNVSSHLDKASVM
RLTISYLRVRKLLDAGDLDIEDDMKAQMNCFYLKALDGFVMVLTDDGDMIYISDNVNKYM
GLTQFELTGHSVFDFTHPCDHEEMREMLTHRNGLVKKGKEQNTQRSFFLRMKCTLTSRGR
TMNIKSAT
WKVLHCTGHIHVYDTNSNQPQCGYKKPPMTCLVLICEPIPHPSNIEIPLDSK
TFLSRHSLDMKFSYCDERITELMGYEPEELLGRSIYEYYHALDSDHLTKTHHDMFTKGQV
TTGQYRMLAKRGGYVWVETQATVIYNTKNSQPQCIVCVN
YVVSGIIQHDLIFSLQQTECV
LKPVESSDMKMTQLFTKVESEDTSSLFDKLKKEPDALTLLAPAAGDTIISLDFGSNDTET
DDQQLEEVPLYNDVMLPSPNEKLQNINLAMSPLPTAETPKPLRSSADPALNQEVALKLEP
NPESLELSFTMPQIQDQTPSPSDGSTRQSSPEPNSPSEYCFYVDSDMVNEFKLELVEKLF
AEDTEAKNPFSTQDTDLDLEMLAPYIPMDDDFQLRSFDQLSPLESSSASPESASPQSTVT
VFQQTQIQEPTANATTTTATTDELKTVTKDRMEDIKILIASPSPTHIHKETTSATSSPYR
DTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKR
KMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDLAC
RLLGQSMDESGLPQLTSYDCEVNAPIQGSRNLLQGEELLRALDQVN
Sequence length 826
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  HIF-1 signaling pathway
Mitophagy - animal
Autophagy - animal
Efferocytosis
Th17 cell differentiation
Thyroid hormone signaling pathway
Kaposi sarcoma-associated herpesvirus infection
Pathways in cancer
Proteoglycans in cancer
Chemical carcinogenesis - reactive oxygen species
Renal cell carcinoma
Central carbon metabolism in cancer
Choline metabolism in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
  Regulation of gene expression by Hypoxia-inducible Factor
Cellular response to hypoxia
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Ub-specific processing proteases
Interleukin-4 and Interleukin-13 signaling
PTK6 Expression
PTK6 promotes HIF1A stabilization
Neddylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
50
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Enchondromatosis Likely pathogenic rs2503132758, rs199752292, rs2503156139 RCV002468425
RCV002468427
RCV002468429
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maffucci syndrome Likely pathogenic rs2044704486, rs2503149952 RCV002468428
RCV002468430
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANAPLASIA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia BEFREE 31800874
★☆☆☆☆
Found in Text Mining only
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome BEFREE 20832699, 21242666, 25431923, 30278484, 31461385
★☆☆☆☆
Found in Text Mining only
Acidosis Lactic Lactic acidosis Pubtator 22135092 Inhibit
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 24966925, 27002764
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 27002764
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 21868571, 24064771, 26642852, 30595549
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 29409830
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 24711541, 25931453, 30909668
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 25248926
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 12209691, 12632503, 17452775, 17487356
★☆☆☆☆
Found in Text Mining only