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AAAS

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;

Type

Recombinant Proteins
Cell & Tissue Lysates
Protein Pre-coupled Magnetic Beads

Species

Human
Mouse
Zebrafish

Source

E.Coli or Yeast
HEK293
In Vitro Cell Free System
Insect Cell
Mammalian Cell
Wheat Germ

Tag

DDK
GST
His
His (Fc)
Avi
N/A

Species	Cat.#	Product name	Source (Host)	Tag	Protein Length	Price
Human	AAAS-006H	Recombinant Human AAAS Protein, GST-tagged	Wheat Germ	GST		Inquiry
Human	AAAS-007H	Recombinant Human AAAS Protein, GST-tagged	Wheat Germ	GST		Inquiry
Human	AAAS-9161HCL	Recombinant Human AAAS 293 Cell Lysate	HEK293	N/A		Inquiry
Human	AAAS-743HF	Recombinant Full Length Human AAAS Protein, GST-tagged	In Vitro Cell Free System	GST	546 amino acids	Inquiry
Human	AAAS-247H	Recombinant Human AAAS Protein, DDK-tagged	Insect Cell	DDK		Inquiry
Mouse	AAAS-1054M	Recombinant Mouse AAAS Protein	Mammalian Cell	His		Inquiry
Mouse	Aaas-3246M	Recombinant Mouse Aaas, His-tagged	E.Coli or Yeast	His	546	Inquiry
Mouse	AAAS-168M	Recombinant Mouse AAAS Protein, His (Fc)-Avi-tagged	HEK293	His (Fc)-Avi		Inquiry
Mouse	AAAS-168M-B	Recombinant Mouse AAAS Protein Pre-coupled Magnetic Beads	HEK293			Inquiry
Zebrafish	AAAS-12428Z	Recombinant Zebrafish AAAS	Mammalian Cell	His		Inquiry

Involved Pathway
Protein Function
Interacting Protein

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	EIF4EBP3L;EIF5B;SMN2;EIF3BA;TGS1;PAIP1;ALYREF;NXF2;SARNP

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	TRP63;SIN3B;SETD7;POU5F3;HMGB2;NKX6;TAL1;SSRP1A;BAP1
histone-lysine N-methyltransferase activity	WBP7;EHMT1A;SETD8A;SETD7;WHSC1L1;SETD1B;EZH1;EHMT2;SUV39H1A
p53 binding	AXIN1;TAF9;TRIM29;SMARCB1;ZFP385C;ZNF385D;DAXX;PSME3;ZMAT4
protein binding	PLK1S1;HELZ;RNF20;EIF4H;TSC22D1;LOC729991;KSR1;WBP1;ACACA
protein-lysine N-methyltransferase activity	SMYD2;PRDM12;EZH2;PRDM13;RNMTL1A;TRMT10C;METTL21C;METTL21A;FAM86A

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