- Wdr82 [Search on AGR]
Homo sapiens TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Jul 2010]
- Nrk [Search on AGR]
Drosophila melanogaster Neurospecific receptor kinase (Nrk) encodes a receptor tyrosine kinase that is expressed in the developing nervous system and regulates axon pathfinding and rhabdomere elongation. It interacts genetically with Dys and Dg.
- Gipc1 [Search on AGR]
Homo sapiens GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]
- SP2353 [Search on AGR]
Drosophila melanogaster SP2353 (SP2353) encodes a EGF-like- and LamininG-domain-containing protein. It interacts genetically with Dg, which encodes a extracellular matrix receptor. It regulates muscle homeostasis, rhabdomere differentiation and innate immune response.
- Setd1b [Search on AGR]
Homo sapiens SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]
- Dg [Search on AGR]
Drosophila melanogaster Dystroglycan (Dg) encodes a major non-integrin extracellular matrix (ECM) receptor that connects the ECM to the actin cytoskeleton. It regulates animal survival and temperature preference, muscle integrity, myotendinous and neuromuscular junction formation and function, nervous system development, axon pathfinding, rhabdomere differentiation, neuronal stem cell division and epithelial polarity.
- St6galnac3 [Search on AGR]
Homo sapiens ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]
- Dys [Search on AGR]
Drosophila melanogaster Dystrophin (Dys) encodes a cytoplasmic protein that connects the actin cytoskeleton to the extracellular matrix via the receptor encoded by Dg. In addition, the product of Dys serves as a cytoplasmic scaffold for the membrane localization of different signaling factors, including nanos, which regulates expression of miRNAs to adapt cellular homeostasis to changes induced by stress and dystrophy.
- tw [Search on AGR]
Drosophila melanogaster twisted (tw) encodes an endoplasmic reticulum transmembrane protein O-mannosyltransferase that, together with the rt protein, catalyzes the attachment of D-mannose to the hydroxyl group of serine or threonine in secreted or membrane proteins via an alpha-glycosidic bond. O-mannosylation of proteins such as dystroglycan Dg plays an important role in myogenesis, muscle architecture and cell adhesion.
- rt [Search on AGR]
Drosophila melanogaster rotated abdomen (rt) encodes an endoplasmic reticulum transmembrane protein O-mannosyltransferase that, together with the tw protein, catalyzes the attachment of D-mannose to the hydroxyl group of serine or threonine in secreted or membrane proteins via an alpha-glycosidic bond. O-mannosylation of proteins such as dystroglycan Dg plays an important role in myogenesis, muscle architecture and cell adhesion.