male fertility factor kl3 (kl-3) encodes a dynein heavy chain that is a component of a microtubule motor complex. This motor activity is essential only for spermatogenesis. Lack of kl-3 results in loss of the axonemal out dynein arms in the spermatid tail.
PHENOTYPE: Mice homozygous for an ENU induced allele that segregates with Kl<sup>m1Btlr</sup> exhibit short tibia, femur, and pelvis. [provided by MGI curators]
Involved in negative regulation of receptor clustering. Located in presynaptic active zone. Expressed in GABAergic neurons; cholinergic neurons; nervous system; and ventral cord neurons. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in Pitt-Hopkins-like syndrome 2; alcohol dependence; and nicotine dependence. Is an ortholog of human NRXN1 (neurexin 1) and NRXN3 (neurexin 3).
Predicted to enable beta-glucosidase activity. Predicted to be involved in carbohydrate metabolic process. Expressed in hypodermis and intestine. Used to study kidney disease. Human ortholog(s) of this gene implicated in several diseases, including congenital lactase deficiency; end stage renal disease; and intracranial embolism. Is an ortholog of human GBA3 (glucosylceramidase beta 3 (gene/pseudogene)) and LCTL (lactase like).
Predicted to enable beta-glucosidase activity. Predicted to be involved in carbohydrate metabolic process. Expressed in excretory canal; excretory cell; and intestine. Used to study kidney disease. Human ortholog(s) of this gene implicated in several diseases, including end stage renal disease; intracranial embolism; and spondylosis. Is an ortholog of human GBA3 (glucosylceramidase beta 3 (gene/pseudogene)) and LCTL (lactase like).
Enables bHLH transcription factor binding activity and double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of beta-catenin-TCF7L2 complex. Predicted to be active in chromatin. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; Lynch syndrome; and Pitt-Hopkins syndrome. Orthologous to human TCF4 (transcription factor 4); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.
This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]
Enables several functions, including calcium ion binding activity; cell adhesion molecule binding activity; and neuroligin family protein binding activity. Involved in several processes, including cellular response to calcium ion; circadian rhythm; and presynapse assembly. Acts upstream of or within vesicle docking involved in exocytosis. Located in several cellular components, including cell surface; endocytic vesicle; and slit diaphragm. Used to study autism spectrum disorder. Biomarker of transient cerebral ischemia. Human ortholog(s) of this gene implicated in Pitt-Hopkins-like syndrome 2. Orthologous to human NRXN1 (neurexin 1); INTERACTS WITH 17alpha-ethynylestradiol; 2,2',4,4'-Tetrabromodiphenyl ether; 2,3,7,8-tetrachlorodibenzodioxine.