Alternative titles; symbolsATM SUBSTRATE CHK2-INTERACTING ZINC FINGER PROTEIN; ASCIZKIAA0431HGNC Approved Gene Symbol: ATMINCytogenetic location: 16q23.2 Gen...
Alternative titles; symbols
HGNC Approved Gene Symbol: ATMIN
Cytogenetic location: 16q23.2 Genomic coordinates (GRCh38): 16:81,035,841-81,047,349 (from NCBI)
ATMIN functions in the DNA damage response and in embryonic development (Jurado et al., 2012).
▼ Cloning and Expression
By sequencing clones obtained from a size-fractionated brain cDNA library, Ishikawa et al. (1997) cloned ATMIN, which they designated KIAA0431. The transcript contains a repetitive element in its 3-prime end, and the deduced protein contains 667 amino acids. RT-PCR detected variable ATMIN expression in all tissues examined, with highest expression in placenta, lung, and kidney.
Jurado et al. (2012) stated that there are 2 isoforms of ASCIZ that differ only in their N-terminal ends. The full-length 823-amino acid ASCIZ isoform contains 4 N-terminal zinc finger motifs, followed by a central core domain and a C-terminal transcription activation domain containing multiple SQ/TQ and TQT motifs. It also has several potential ATM (607585)/ATR (601215) phosphorylation sites. The 667-amino acid ASCIZ isoform has only 2 N-terminal zinc finger motifs.
▼ Gene Function
Jurado et al. (2012) found that knockdown of ASCIZ resulted in significantly reduced expression of DYNLL1 (601562) in mouse, chicken, and human cells. Yeast 2-hybrid analysis revealed that DYNLL1 bound to both isoforms of ASCIZ. DYNLL1 bound to each of 10 single TQT motifs within the transactivation domain of ASCIZ, and DYNLL1 binding inhibited ASCIZ-dependent transactivation of a reporter gene. Chromatin immunoprecipitation analysis revealed that ASCIZ bound directly to the human DYNLL1 promoter and regulated its activity in a manner dependent on the ASCIZ zinc finger domain. However, high DYNLL1 levels inhibited the transcriptional activity of ASCIZ. DYNLL1 was also required for DNA damage-induced ASCIZ focus formation. Jurado et al. (2012) concluded that ASCIZ has the dual ability to activate DYNLL1 gene expression and to sense free DYNLL1 protein levels, resulting in simple feedback loop to adjust cellular content of DYNLL1.
By radiation hybrid analysis, Ishikawa et al. (1997) mapped the ATMIN gene to chromosome 16.
Hartz (2012) mapped the ATMIN gene to chromosome 16q23.2 based on an alignment of the ATMIN sequence (GenBank AB007891) with the genomic sequence (GRCh37).