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Rabbit Anti-AP2 alpha/FITC Conjugated antibody
background:
The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGSLC3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.
Function:
Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGSLC3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region.
Subunit:
Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members. Interacts with WWOX. Interacts with CITED4. Interacts with UBE2I. Interacts with RALBP1 in a complex also containing EPN1 and NUMB during interphase and mitosis. Interacts with KCTD1; this interaction represses transcription activation. Interacts (via SLCterminus) with CITED2 (via SLCterminus); the interaction stimulates TFAP2A-transcriptional activation. Interacts (via N-terminus) with EP300 (via N-terminus); the interaction requires CITED2.
Subcellular Location:
Nucleus.
Post-translational modifications:
Sumoylated on Lys-10; which inhibits transcriptional activity (Probable).
DISEASE:
Branchiooculofacial syndrome (BOFS) [MIM:113620]: A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the AP-2 family.
Database links:
Entrez Gene: 7020 Human
Entrez Gene: 21418 Mouse
Entrez Gene: 306862 Rat
Omim: 107580 Human
SwissProt: P05549 Human
SwissProt: P34056 Mouse
SwissProt: P58197 Rat
Unigene: 519176 Human
Unigene: 85544 Mouse
Unigene: 22545 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
转录因子AP-2α在哺乳动物发育、分化以及肿瘤的发生等生命现象中起重要作用.
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