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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| HIF1A | 3091 | Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) | 14 | HIF1; MOP1; PASD8; HIF-1A; bHLHe78; HIF-1alpha; HIF1-ALPHA |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 20003271 | 2009 | Cell line : - Source : West China Hospital of Sichuan University Sample Type : CRC tumor and normal tissue No. of Sample : 71 Stage : - | Immunohistochemistry | Up-regulation | - | The expression of VEGF, one of the key angiogenic factors regulating VEGF is HIF-1. HIF-1 and VEGF might be used as biomarkers indicating tumor infiltration and poor prognosis in human CRC. HIF-1 and VEGF expression were significantly associated with advanced stage and implied poor prognosis in patients with CRC. |
| 20363910 | 2010 | Cell line : - Source : the Nurses? Health Study and the Health Professionals Follow-up Study Sample Type : CRC tumor and normal tissue No. of Sample : 731 Stage : - | Bisulfite DNA treatment and real-time PCR (MethyLight), Pyrosequencing, Immunohistochemistry | Up-regulation | - | HIF1A expression is independently associated with poor prognosis in colorectal cancer, suggesting HIF1A as a biomarker with potentially important therapeutic implications. HIF1A overexpression was significantly associated with higher colorectal cancer-specific mortality in Kaplan-Meier analysis. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Basic helix-loop-helix proteins |
| Description | 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] |
| Chromosome | 14 |
| Location | 14q23.2 |
| Start | 61695401 |
| End | 61748259 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | 52859 |
| OMIM ID | 603348 |
| HGNC ID | HGNC:4910 |
| Unigene ID | Hs.597216 |
| Ensembl ID | ENSG00000100644 |
| PharmGKB ID | PA29283 |
mRNA Information
| mRNA ID | NM_001530.3 |
|---|---|
| Exon | join(1..439,24982..25172,26109..26254,26339..26423, 31306..31418,32053..32255,37018..37124,38738..38885, 41489..41709,42687..42973,45105..45227,45355..45788, 49305..49413,50291..50417,51534..52859) | mRNA Sequence | Download Select all |
| Length | 4082 |
CDS Information
| Location | join(405..439,24982..25172,26109..26254,26339..26423, 31306..31418,32053..32255,37018..37124,38738..38885, 41489..41709,42687..42973,45105..45227,45355..45788, 49305..49413,50291..50417,51534..51685) |
|---|---|
| CDS Sequence | Download Select all |
| CCDS ID | CCDS9753.1 |
Protein Information
| Protein ID | NP_001521.1 |
|---|---|
| Protein Name | Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) |
| Molecular Wt. (Da) | 92540 |
| Protein Sequence | Download Select all |
| Length | 826 |
| Uniprot ID | Q16790 |
| Ensembl Protein ID | ENSP00000367608 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| K | Acetylation | 532 |
| K | Acetylation | 532 |
| P | Hydroxylation | 564 |
| P | Hydroxylation | 564 |
| N | Hydroxylation | 803 |
| C | Nitration | 800 |
| K | Ubiquitination | 532 |
| K | Ubiquitination | 532 |
| C | S-Nitrosylation | 800 |
| T | Phosphorylation | 796 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 328 | APEX1 | 136 | NP_542380.1 | in vitro | 10594042 |
| 367 | AR | 2437 | NP_000035.2 | in vivo | 17426252 |
| 405 | ARNT | 524 | NP_001659.1 | in vivo;yeast 2-hybrid | 9079689 |
| 406 | ARNTL | 3973 | NP_001169.3 | in vivo;yeast 2-hybrid | 9576906 |
| 1387 | CREBBP | 2534 | NP_004371.2 | in vitro;in vivo;yeast 2-hybrid | 10 202 154 173 823 200 000 000 000 000 000 |
| 2033 | EP300 | 4078 | NP_001420.2 | in vitro;in vivo | 1 182 364 311 959 990 000 000 000 000 000 000 000 000 |
| 3065 | HDAC1 | 3143 | NP_004955.2 | in vivo | 16511565 |
| 3164 | NR4A1 | 744 | NP_002126.2 | in vivo | 18305400 |
| 3320 | HSP90AA1 | 777 | NP_001017963.2 | in vitro;in vivo | 9079689 |
| 3725 | JUN | 1302 | NP_002219.1 | in vivo | 11739718 |
| 4149 | MAX | 1113 | NP_002373.3 | in vivo | 17418410 |
| 4193 | MDM2 | 1272 | NP_002383.2 | in vitro;in vivo | 1 064 027 412 606 550 |
| 5187 | PER1 | 3774 | NP_002607.2 | in vitro;in vivo | 11726537 |
| 5230 | PGK1 | 2412 | NP_000282.1 | in vivo | 8089148 |
| 5595 | MAPK3 | 3479 | NP_002737.2 | in vitro;in vivo | 10551817 |
| 6667 | SP1 | 1796 | NP_612482.2 | in vivo | 1 741 841 017 024 170 |
| 7157 | TP53 | 1859 | NP_000537.3 | in vitro | 121 243 969 537 326 |
| 7428 | VHL | 1905 | NP_000542.1 | in vitro;in vivo | 11 504 942 109 441 100 000 000 000 000 000 |
| 7818 | DAP3 | 3646 | NP_004623.1 | in vitro | 10903152 |
| 8648 | NCOA1 | 4070 | NP_003734.3 | in vitro;in vivo | 10594042 |
| 9112 | MTA1 | 4633 | NP_004680.2 | in vivo | 16511565 |
| 54583 | EGLN1 | 6971 | NP_071334.1 | in vitro;in vivo | 154 740 271 651 156 000 000 000 |
| 112399 | EGLN3 | 6972 | NP_071356.1 | in vitro;in vivo | 154 740 271 651 156 000 000 000 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Central carbon metabolism in cancer | hsa05230 |
| Choline metabolism in cancer | hsa05231 |
| HIF-1 signaling pathway | hsa04066 |
| mTOR signaling pathway | hsa04150 |
| Pathways in cancer | hsa05200 |
| Proteoglycans in cancer | hsa05205 |
| Renal cell carcinoma | hsa05211 |
| Thyroid hormone signaling pathway | hsa04919 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00130 | 239-338 | PAS |
| cl21578 | 239-338 | PAS superfamily |
| cd00130 | 96-150 | PAS |
| cl21578 | 96-150 | PAS superfamily |
| cd00083 | 15-68 | HLH |
| cl00081 | 15-68 | HLH superfamily |
| pfam08778 | 787-826 | HIF-1a_CTAD |
| cl07403 | 787-826 | HIF-1a_CTAD superfamily |
| pfam11413 | 549-582 | HIF-1 |
| cl12942 | 549-582 | HIF-1 superfamily |
| smart00091 | 93-148 | PAS |
| smart00091 | 239-295 | PAS |
| smart00353 | 23-68 | HLH |
| smart00086 | 302-343 | PAC |
| cl09965 | 302-343 | PAC superfamily |
| pfam14598 | 242-343 | PAS_11 |
| pfam08447 | 254-339 | PAS_3 |
| pfam13426 | 250-338 | PAS_9 |
| pfam00989 | 251-326 | PAS |
| COG2202 | 99-338 | PAS |
| TIGR00229 | 101-168 | sensory_box |
| pfam00989 | 95-170 | PAS |
| TIGR00229 | 251-318 | sensory_box |
Ontology Information
| HPRD ID | 4417 |
|---|---|
| Molecular Class | Transcription factor |
| Molecular Function | Catalytic activity (GO:0003824) |
| Biological Process | Metabolism (GO:0008152); Energy pathways (GO:0006091) |
Drug Information
| Uniprot ID | DrugBank ID | Name | Type |
|---|---|---|---|
| Q16665 | DB01136 | Carvedilol | SmallMoleculeDrug |