Table of Contents - *610853
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Genome
DNA
Protein
Gene Info
Variation
Animal Models
Cellular Pathways
| *610853 | ||||||
| AT HOOK-CONTAINING TRANSCRIPTION FACTOR 1; AHCTF1 | ||||||
| Alternative titles; symbols | ||||||
| EMBRYONIC LARGE MOLECULE DERIVED FROM YOLK SAC; ELYS | ||||||
| HGNC Approved Gene Symbol: AHCTF1 | ||||||
| Cytogenetic location: 1q44 Genomic coordinates (GRCh37): 1:247,002,399 - 247,094,725 (from NCBI) | ||||||
| TEXT | ||||||
| Cloning | ||||||
| Kimura et al. (2002) cloned human AHCTF1, which they called ELYS, by 5-prime and 3-prime RACE of a fetal liver cDNA library using primers based on mouse Elys. The deduced 2,266-amino acid protein has 2 WD motifs and 3 nuclear export signals in its N-terminal half, and an AT hook DNA-binding motif and 7 nuclear localization signals in its C-terminal half. Northern blot analysis detected Elys expression in all embryonic and adult mouse tissues examined. Expression was higher in embryonic liver, spleen, and thymus than in the corresponding adult tissues. In situ hybridization of mouse embryos showed high Elys expression in liver, with lower expression in thymus, lung, spinal cord, and eye. In day-4 newborn mice, Elys expression was confined to bone marrow, kidney, and testis. In adult mouse bone marrow, Elys was highly expressed in pluripotent hematopoietic stem cells. Immunohistochemical analysis detected Elys in a granular distribution in both nuclei and cytoplasm of a mouse stromal cell line. | ||||||
| Gene Function | ||||||
| By mutation analysis, Kimura et al. (2002) found that the nuclear localization signals and nuclear export signals of mouse Elys regulated its subcellular distribution. Mutation analysis also identified a transcriptionally active region of Elys and 2 domains that were inhibitory. Rasala et al. (2006) found that ELYS copurified with the NUP107 (607617)-NUP160 (607614) complex in Xenopus interphase extracts, Xenopus mitotic extracts, and human cell extracts. In HeLa cells, ELYS localized to nuclear pores and to the nuclear interior during interphase and to kinetochores during mitosis. ELYS associated with the chromatin/nuclear periphery in late anaphase, early in the nuclear envelope reassembly process. Depletion of ELYS in HeLa cells by small interfering RNA affected nuclear localization of all NUPs tested and caused defects in all 3 domains of the nuclear pore complex (filaments, scaffold, and basket). ELYS depletion also led to defects in cytokinesis. In addition, RNA interference experiments showed that ELYS and NUP133 (607613) were codependent for their proper localization at pore complexes of the nuclear envelope during interphase and at kinetochores during mitosis. | ||||||
| Mapping | ||||||
| The International Radiation Hybrid Mapping Consortium mapped the AHCTF1 gene to chromosome 1 (RH26330). | ||||||
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