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.
Enables actin filament binding activity and gap junction channel activity. Involved in positive regulation of gap junction assembly and positive regulation of nematode pharyngeal pumping. Located in gap junction. Expressed in RIS; pharyngeal gland cell; and pharyngeal muscle cell. Human ortholog(s) of this gene implicated in several diseases, including Pitt-Hopkins syndrome; autistic disorder; and communication disorder (multiple). Is an ortholog of human CNTNAP5 (contactin associated protein family member 5).
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 and alcohol 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 and 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.
Enables protease binding activity and transmembrane transporter binding activity. Involved in prepulse inhibition. Located in several cellular components, including main axon; neuronal cell body; and synaptic membrane. Is active in GABA-ergic synapse; glutamatergic synapse; and presynaptic membrane. Used to study autism spectrum disorder and visual epilepsy. Human ortholog(s) of this gene implicated in several diseases, including Pitt-Hopkins syndrome; autism spectrum disorder (multiple); communication disorder (multiple); cortical dysplasia-focal epilepsy syndrome; and social phobia. Orthologous to human CNTNAP2 (contactin associated protein 2); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; bisphenol A.