Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3091
Gene name Gene Name - the full gene name approved by the HGNC.
Hypoxia inducible factor 1 subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HIF1A
Synonyms (NCBI Gene) Gene synonyms aliases
HIF-1-alpha, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1, PASD8, bHLHe78
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q23.2
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000498 hsa-miR-20b-5p qRT-PCR, ELISA, ChIP, Western blot 20232316
MIRT000496 hsa-miR-519c-3p Luciferase reporter assay, qRT-PCR, Western blot 20233879
MIRT004487 hsa-miR-107 qRT-PCR, Luciferase reporter assay, Western blot, Northern blot 20308559
MIRT000002 hsa-miR-20a-5p Luciferase reporter assay, Western blot, Northern blot 18632605
MIRT000002 hsa-miR-20a-5p Luciferase reporter assay, Western blot, Northern blot 18632605
Transcription factors
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 information of associated ontologies with gene provided by GO database.
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:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 19782034
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603348 4910 ENSG00000100644
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Astrocytoma Astrocytoma, Subependymal Giant Cell Astrocytoma, Juvenile Pilocytic Astrocytoma, Diffuse Astrocytoma, Pilocytic Astrocytoma, Childhood Cerebral Astrocytoma, Cerebral Astrocytoma rs555607708 15341671
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
24349381
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
24349381
Carcinoma Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 19808899
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure 15732037 ClinVar
Heart failure Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided 15732037 ClinVar
Mental depression Mental Depression, Unipolar Depression, Major Depressive Disorder 23333658 ClinVar
Myocardial infarction Myocardial Failure 15732037 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 36480544
Abortion Habitual Associate 27018158
Abortion Spontaneous Inhibit 22135724
Acidosis Associate 36012235
Acidosis Lactic Inhibit 22135092
Acidosis Renal Tubular Associate 39349238
Acquired Immunodeficiency Syndrome Associate 19204000
Acute Aortic Syndrome Associate 33953793
Acute Kidney Injury Associate 12885785, 19279559, 33491566, 35587223, 36655871
Acute Lung Injury Associate 36142499, 37989425