[Wightman B] Mutations cause a weak kinker phenotype and defects in axon guidance of HSNL, AVKR, PVQL axons.
[Wightman B] encoded by F56E3.4 nuclear hormone receptor, mutants are Unc, egg-laying constitutive, and have defects in axon pathfinding in the ventral nerve cord.
fax-1 encodes a conserved nuclear receptor that contains two C4-type zinc fingers and is orthologous to the vertebrate photoreceptor-specific nuclear receptor PNR (OMIM:604485, mutated in enhanced S-cone syndrome and retinitis pigmentosa); fax-1 is required for normal locomotion and neuron fate specification, including specification of the AVA, AVE, and AVK interneurons and proper axon pathfinding of the AVK, HSNL, and PVQL axons; expression of reporter gene fusions in fax-1 mutants suggests that fax-1 functions by regulating expression of a number of downstream targets, including nmr-1 and nmr-2, opt-3, flp-1, and ncs-1; in some neurons, fax-1 regulates expression combinatorially with unc-42, which encodes a paired-like homeodomain protein that additionally, regulates fax-1 expression in AVK neurons; FAX-1 exhibits sequence-specific DNA binding in vitro and the FAX-1 DNA binding domain, when fused to the GAL4 transcriptional activator, can positively regulate transcription in yeast one-hybrid assays; FAX-1 is expressed in the nuclei of 18 neurons, including the AVK, AVA, AVB, and AVE interneurons, beginning at mid-embryogenesis and continuing through larval and adult stages; FAX-1 is also seen in two non-neuronal cell types: the distal tip cells (DTCs), from L2 to L4 larval stages, and two pairs of vulval cells in L4 animals.
Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Involved in several processes, including neuron differentiation; positive regulation of transcription by RNA polymerase II; and regulation of locomotion. Located in nucleus. Expressed in several structures, including CEP; hermaphrodite distal tip cell; interneuron; pharyngeal motor neurons; and rect_D. Human ortholog(s) of this gene implicated in enhanced S-cone syndrome and retinitis pigmentosa 37. Is an ortholog of human NR2E3 (nuclear receptor subfamily 2 group E member 3).