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]
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 heparan sulfate binding activity and heparin binding activity. Involved in ossification. Located in collagen-containing extracellular matrix. Human ortholog(s) of this gene implicated in Marshall syndrome; Stickler syndrome 2; autosomal dominant nonsyndromic deafness; and fibrochondrogenesis 1. Orthologous to human COL11A1 (collagen type XI alpha 1 chain); PARTICIPATES IN syndecan signaling pathway; cell-extracellular matrix signaling pathway; Entamoebiasis pathway; INTERACTS WITH 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine.
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Predicted to be involved in several processes, including atrioventricular canal morphogenesis; endochondral ossification; and nervous system development. Predicted to act upstream of or within several processes, including learning or memory; myeloid leukocyte differentiation; and nervous system development. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Marshall-Smith syndrome and Sotos syndrome 2. Orthologous to human NFIX (nuclear factor I X); INTERACTS WITH 1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine; 17alpha-ethynylestradiol; 17beta-estradiol.
Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including positive regulation of transcription by RNA polymerase II; regulation of egg-laying behavior; and regulation of nematode pharyngeal pumping. Acts upstream of or within determination of adult lifespan. Predicted to be located in nucleus. Expressed in several structures, including body wall musculature; egg-laying apparatus; intestine; neurons; and pharynx. Human ortholog(s) of this gene implicated in Marshall-Smith syndrome; NFIA-related disorder; and Sotos syndrome 2. Is an ortholog of human NFIA (nuclear factor I A).
Predicted to enable fibroblast growth factor binding activity and fibroblast growth factor receptor binding activity. Involved in several processes, including norepinephrine biosynthetic process; response to angiotensin; and response to vitamin D. Predicted to be located in apical plasma membrane and extracellular region. Used to study familial hyperlipidemia; hypertension; and kidney failure. Biomarker of chronic kidney disease (multiple); hypertension; retinitis pigmentosa; secondary hyperparathyroidism; and type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in coronary artery disease; intracranial embolism; and spondylosis. Orthologous to human KL (klotho); PARTICIPATES IN fibroblast growth factor signaling pathway; pentose and glucuronate interconversion pathway; starch and sucrose metabolic pathway; INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine; ammonium chloride.