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LAMB1 | laminin, beta 1; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components (1786 aa) | |||
HAND1 | heart and neural crest derivatives expressed 1; Transcription factor that plays an essential role in both trophoblast-giant cells differentiation and in cardiac morphogenesis. In the adult, could be required for ongoing expression of cardiac-specific genes. Binds the DNA sequence 5’- NRTCTG-3’ (non-canonical E-box) (By similarity) (215 aa) | |||
ENO1 | enolase 1, (alpha) (434 aa) | |||
CANX | calnexin; Calcium-binding protein that interacts with newly synthesized glycoproteins in the endoplasmic reticulum. It may act in assisting protein assembly and/or in the retention within the ER of unassembled protein subunits. It seems to play a major role in the quality control apparatus of the ER by the retention of incorrectly folded proteins. Associated with partial T-cell antigen receptor complexes that escape the ER of immature thymocytes, it may function as a signaling complex regulating thymocyte maturation. Additionally it may play a role in receptor- mediated endocytosis at [...] (592 aa) | |||
ATF2 | activating transcription factor 2; Transcriptional activator, probably constitutive, which binds to the cAMP-responsive element (CRE) (consensus- 5’- GTGACGT[AC][AG]-3’), a sequence present in many viral and cellular promoters. Interaction with JUN redirects JUN to bind to CRES preferentially over the 12-O-tetradecanoylphorbol-13-acetate response elements (TRES) as part of an ATF2/JUN complex (505 aa) | |||
NRXN2 | neurexin 2; Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling (1712 aa) | |||
CHKA | choline kinase alpha; Has a key role in phospholipid biosynthesis and may contribute to tumor cell growth. Catalyzes the first step in phosphatidylcholine biosynthesis. Contributes to phosphatidylethanolamine biosynthesis. Phosphorylates choline and ethanolamine. Has higher activity with choline (457 aa) | |||
EIF2D | eukaryotic translation initiation factor 2D (584 aa) | |||
APP | amyloid beta (A4) precursor protein (770 aa) | |||
ACHE | acetylcholinesterase (617 aa) | |||
NRXN3 | neurexin 3; Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May play a role in angiogenesis (By similarity) (1061 aa) | |||
JUN | jun proto-oncogene; Transcription factor that recognizes and binds to the enhancer heptamer motif 5’-TGA[CG]TCA-3’. Promotes activity of NR5A1 when phosphorylated by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation (331 aa) | |||
COL4A1 | collagen, type IV, alpha 1; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ’chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen (1669 aa) | |||
GPCPD1 | glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae); May be involved in the negative regulation of skeletal muscle differentiation, independently of its glycerophosphocholine phosphodiesterase activity (By similarity) (672 aa) | |||
COLQ | collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (455 aa) | |||
LAMA1 | laminin, alpha 1; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components (3075 aa) | |||
LYST | lysosomal trafficking regulator; May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules (3801 aa) | |||
PRIMA1 | proline rich membrane anchor 1; Required to anchor acetylcholinesterase (ACHE) to the basal lamina of the neuromuscular junction and to the membrane of neuronal synapses in brain. Also able to organize ACHE into tetramers (By similarity) (153 aa) | |||
GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (753 aa) | |||
NRXN1 | neurexin 1; Neuronal cell surface protein that may be involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins. May play a role in formation or maintenance of synaptic junctions. May mediate intracellular signaling. May play a role in angiogenesis (By similarity) (1547 aa) | |||
NBEAL1 | neurobeachin-like 1 (2694 aa) | |||
PHOSPHO1 | phosphatase, orphan 1; Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho). Involved in the generation of inorganic phosphate for bone mineralization (292 aa) | |||
NBEAL2 | neurobeachin-like 2; Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis (2754 aa) | |||
GOLGA2 | golgin A2; Golgi auto-antigen; probably involved in maintaining cis-Golgi structure (1002 aa) | |||
GNB2L1 | guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 (317 aa) | |||
CHKB-CPT1B | CHKB-CPT1B readthrough (non-protein coding) (60 aa) |