Gene Information
|
Gene Name
|
HIF1A |
|
Gene ID
|
3091
|
|
Gene Full Name
|
hypoxia inducible factor 1 subunit alpha |
|
Gene Alias
|
HIF-1-alpha|HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78 |
|
Transcripts
|
ENSG00000100644
|
|
Virus
|
HBV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Nucleoplasm, Nuclear bodies;
|
|
Membrane Info
|
Cancer-related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Transcription factors |
|
Uniport_ID
|
Q16665
|
|
HGNC ID
|
HGNC:4910
|
|
OMIM ID
|
603348 |
|
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 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] |
Target gene [HIF1A] related to virus gene/protein/region
Mutation Table: if previous studies reported that target gene was related to virus gene/region/protein, the information in this literature was listed in this section
| ID |
PMID |
Mutation |
Gene/Protein/Region |
Encoding Gene/Protein |
Disease |
Description |
Detail |
| 1 |
24346287 |
K130M |
X
|
X
|
Carcinoma, Hepatocellular
|
T
|
View |
| 2 |
24346287 |
V131I |
X
|
X
|
Carcinoma, Hepatocellular
|
T
|
View |
| 3 |
24346287 |
A1630G |
X
|
X
|
Carcinoma, Hepatocellular
|
T
|
View |
| 4 |
24346287 |
A1762T |
X
|
X
|
Carcinoma, Hepatocellular
|
T
|
View |
| 5 |
24346287 |
G1721A |
X
|
X
|
Carcinoma, Hepatocellular
|
T
|
View |
| 6 |
24346287 |
G1764A |
X
|
X
|
Carcinoma, Hepatocellular
|
T
|
View |
| 7 |
24346287 |
A12T |
X
|
X
|
Carcinoma, Hepatocellular
|
T
|
View |
| 8 |
24346287 |
A66T |
X
|
X
|
Carcinoma, Hepatocellular
|
T
|
View |
| 9 |
24346287 |
E109D |
X
|
X
|
Carcinoma, Hepatocellular
|
T
|
View |
| 10 |
24346287 |
H86Y |
X
|
X
|
Carcinoma, Hepatocellular
|
T
|
View |
| 11 |
25019072 |
K130M |
X
|
X
|
Carcinoma, Hepatocellular
|
T
|
View |
| 12 |
25019072 |
V131I |
X
|
X
|
Carcinoma, Hepatocellular
|
T
|
View |
| 13 |
32887289 |
W196X |
S
|
S
|
|
T
|
View |
| 14 |
32887289 |
M204I |
RT
|
P
|
|
T
|
View |
Target gene [HIF1A] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
S GSE252863
|
scRNA-seq |
10 |
Illumina HiSeq 2500 (Homo sapiens) |
|
GSE236281
|
RNA-seq |
12 |
Illumina MiSeq (Homo sapiens) |
|
GSE199850
|
scRNA-seq |
1 |
HiSeq X Ten (Homo sapiens) |
|
C GSE68402
|
Chip-seq |
26 |
Illumina MiSeq (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens) |
|
S GSE247322
|
scRNA-seq |
27 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
TCGA_LIHC_HBV
|
DNA methylation sequencing;RNA-seq |
97 |
TCGA |
|
C GSE270130
|
Chip-seq |
27 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE224901
|
RNA-seq |
21 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE100400
|
Chip-seq;RNA-seq;4C_cccDNA |
31 |
Illumina NextSeq 500 (Homo sapiens);Illumina NextSeq 500 (Mus musculus) |
|
GSE173897
|
RNA-seq |
95 |
Illumina HiSeq 4000 (Homo sapiens) |
|
GSE262515
|
RNA-seq |
21 |
Illumina HiSeq 2500 (Homo sapiens);Illumina HiSeq 2500 (Mus musculus) |
|
GSE110345
|
RNA-seq |
4 |
Illumina HiSeq 2500 (Homo sapiens) |
|
C GSE131257
|
ATAC-seq;RNA-seq |
19 |
Illumina HiSeq 2500 (Homo sapiens) |
|
GSE94660
|
RNA-seq |
42 |
Illumina HiSeq 2500 (Homo sapiens) |
When the query gene is differentially changed in the dataset, a feature/violin plot will be displayed.
> Dataset: GSE252863 - Gene expression in cell subsets
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> Dataset: GSE247322 - Gene expression in cell subsets
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