- Col11a1 [Search on AGR]
Rattus norvegicus 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.
- Col11a1 [Search on AGR]
Homo sapiens 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]
- nfi-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans 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).
- Nfix [Search on AGR]
Rattus norvegicus 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.