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 a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]
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]
Is predicted to encode a protein with the following domains: Transcription factor IIIC subunit 5, HTH domain and RNA polymerase III transcription factor (TF)IIIC subunit HTH domain. Is an ortholog of C. elegans tftc-5.
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).
Enables chromatin binding activity. Involved in positive chemotaxis; positive regulation of transcription by RNA polymerase II; and response to oxygen levels. Located in nucleus. Part of chromatin. Human ortholog(s) of this gene implicated in nonprogressive cerebellar ataxia with mental retardation. Is an ortholog of human CAMTA2 (calmodulin binding transcription activator 2).
Enables ferric iron binding activity. Involved in several processes, including cellular response to cAMP; cellular response to follicle-stimulating hormone stimulus; and regulation of nervous system development. Located in several cellular components, including basement membrane; cell tip; and dendrite. Used to study hepatitis. Biomarker of anemia and obesity. Human ortholog(s) of this gene implicated in anemia (multiple); atransferrinemia; gastrointestinal system disease; glucose metabolism disease (multiple); and restless legs syndrome. Orthologous to human TF (transferrin); PARTICIPATES IN ephrin - ephrin receptor bidirectional signaling axis; hypoxia inducible factor pathway; iron uptake pathway; INTERACTS WITH (+)-schisandrin B; 17alpha-ethynylestradiol; 17beta-estradiol.