KIRREL3-ECD
|
MAP1BLC1 |
Microtubule-associated protein 1B light chain 1 |
5q13 |
157129 |
Involved in the development of actin-based membrane cytoskeleton |
MYO16 |
Myosin XVI |
13q33.3 |
615479 |
Indirectly affects actin cytoskeleton through its interaction with WAVE1 complex |
KIRREL3-ICD
|
CASK |
Calcium/calmodulin-dependent serine protein kinase (MAGUK family) |
Xp11.4 |
300172 |
Localizes to synaptic active zones and binds to—neurexin and calcium channels |
ATP1B1 |
ATPase, Na+/K+ transporting, beta 1 polypeptide |
1q24 |
182330 |
Involved in cell adhesion and establishing epithelial cell polarity |
SHMT2 |
Serine hydroxymethyltransferase 2 (mitochondrial) |
12q12-q14 |
138450 |
Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Required to prevent uracil accumulation in mtDNA. Interconversion of serine and glycine. Associates with mitochondrial DNA |
UFC1 |
Ubiquitin-fold modifier conjugating enzyme 1 |
1q23.2 |
610554 |
E2-like enzyme which forms an intermediate with UFM1 via a thioester linkage. |