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The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008]
MED1 (Mediator Complex Subunit 1) is a Protein Coding gene. Diseases associated with MED1 include Lipodystrophy, Familial Partial, Type 3. Among its related pathways are Organelle biogenesis and maintenance and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Gene Ontology (GO) annotations related to this gene include chromatin binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IEA,IMP | 17641689 |
GO:0003712 | transcription coregulator activity | IDA | 10198638 |
GO:0003713 | transcription coactivator activity | IEA,IMP | 17223341 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000151 | ubiquitin ligase complex | IEA | -- |
GO:0000785 | chromatin | IEA | -- |
GO:0005634 | nucleus | IEA,IDA | 10235267 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005730 | nucleolus | IDA | 16314496 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
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2 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
3 | Regulation of cholesterol biosynthesis by SREBP (SREBF) | ||
4 | Gene Expression |
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5 | Metabolism |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,ISS | -- |
GO:0000902 | cell morphogenesis | IMP | 17223341 |
GO:0001525 | angiogenesis | IEA,ISS | -- |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0001889 | liver development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Becocalcidiol | Investigational | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MED1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MED1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MED1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MED1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Med1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Med1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MED1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MED1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MED1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | med1 30 |
|
||
Str.18690 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | med1 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | MED1 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
787452 | Benign: not provided | 39,423,369(-) | G/A | SYNONYMOUS_VARIANT | |
rs193921049 | Uncertain Significance: Malignant tumor of prostate | 39,431,132(-) | A/C | MISSENSE_VARIANT | |
rs1139825 | - | p.Pro753Thr | |||
rs35668211 | - | p.Ser1240Gly |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1055612 | CNV | gain | 25217958 |
nsv1063848 | CNV | gain | 25217958 |
nsv1146669 | OTHER | inversion | 26484159 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lipodystrophy, familial partial, type 3 |
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