AAAS
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Official Full Name
achalasia, adrenocortical insufficiency, alacrimia -
Overview
The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. -
Synonyms
AAAS;achalasia, adrenocortical insufficiency, alacrimia;achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple A);aladin;Allgrove;triple A;Allgrove, triple-A;AAA;AAASb;GL003;ADRACALA;ADRACALIN;DKFZp586G1624
Recombinant Proteins
- Human
- Mouse
- Zebrafish
- Wheat Germ
- Mammalian Cells
- E.Coli/Yeast
- HEK293
- Insect Cells
- In Vitro Cell Free System
- GST
- His
- Non
- Avi
- Fc
- Flag
| Cat.# | Product name | Source (Host) | Species | Tag | Protein Length | Price |
|---|---|---|---|---|---|---|
| AAAS-006H | Recombinant Human AAAS Protein, GST-tagged | Wheat Germ | Human | GST |
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| AAAS-007H | Recombinant Human AAAS Protein, GST-tagged | Wheat Germ | Human | GST |
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| AAAS-1054M | Recombinant Mouse AAAS Protein | Mammalian Cells | Mouse | His |
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| AAAS-12428Z | Recombinant Zebrafish AAAS | Mammalian Cells | Zebrafish | His |
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| Aaas-3246M | Recombinant Mouse Aaas, His-tagged | E.Coli/Yeast | Mouse | His | 546 |
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| AAAS-9161HCL | Recombinant Human AAAS 293 Cell Lysate | HEK293 | Human | Non |
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| AAAS-168M | Recombinant Mouse AAAS Protein, His (Fc)-Avi-tagged | HEK293 | Mouse | Avi&Fc&His |
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| AAAS-168M-B | Recombinant Mouse AAAS Protein Pre-coupled Magnetic Beads | HEK293 | Mouse |
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| AAAS-247H | Recombinant Human AAAS Protein, DDK-tagged | Insect Cells | Human | Flag |
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| AAAS-743HF | Recombinant Full Length Human AAAS Protein, GST-tagged | In Vitro Cell Free System | Human | GST | Full L. 546 amino acids |
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Involved Pathway
AAAS involved in several pathways and played different roles in them. We selected most pathways AAAS participated on our site, such as RNA transport, which may be useful for your reference. Also, other proteins which involved in the same pathway with AAAS were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
| Pathway Name | Pathway Related Protein |
|---|---|
| RNA transport | THOC7,UPF1,FXR2,NUP62,NUP210,RANGAP1A,SMN,NUP153,EIF3I,TPR |
Protein Function
AAAS has several biochemical functions, for example, chromatin binding,histone-lysine N-methyltransferase activity,p53 binding. Some of the functions are cooperated with other proteins, some of the functions could acted by AAAS itself. We selected most functions AAAS had, and list some proteins which have the same functions with AAAS. You can find most of the proteins on our site.
| Function | Related Protein |
|---|---|
| chromatin binding | NIPBL,CIC,HDAC2,BARX2,PCGF2,AIRE,TOP2B,PPARG,SUPT5H,UPF1 |
| p53 binding | TRP63,EP300,BCL2L12,BRD4,SETD7,GATA1,CREBBP,ZMAT4,SIRT1,ZNF385C |
| protein-lysine N-methyltransferase activity | RNMTL1A,TRMT10B,SETD7,PRDM11,METTL8,SMYD2A,METTL21D,FAM86A,NDUFAF5,METTL21C |
| histone-lysine N-methyltransferase activity | SUV420H1,PRDM7,SETD1B,SUV39H1B,PRDM2,EHMT2,SETD1BA,EZH2,SETD7,MLL5 |
| protein binding | NCSTN,LILRB4,RAB1A,NRCAM,FBLIM1,WWC1,MED24,ZNF385C,PAK3,ORAI3 |
Interacting Protein
AAAS has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with AAAS here. Most of them are supplied by our site. Hope this information will be useful for your research of AAAS.
NUDCD3;NUDC;REL;NUP153;NUP107;UBE2I;Ube2i;KPNB1;Nup98;Nup107;Rcc1;SEH1L;Ranbp2
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