Etl1 subfamily

The Etl1 subfamily derives its name from the mouse Etl1 (Enhancer Trap Locus 1), based on its identification in an expression screen for loci having interesting properties in early development 1.

Although members are present in all but the lowest eukaryotes, including the human homologue SMARCAD1 (SMARCA containing DEAD box 1) 2 and S cerevisiae FUN30 (Function Unknown 30) 3, very little attention has been focussed on these proteins.

Etl1 is very widely expressed but non-essential, although deletion causes a variety of significant developmental phenotypes 4. FUN30 deletions are viable although temperature sensitive 5, and mutants show decreased sensitivity to UV radiation 6. The polypeptide sequence N-terminal to the helicase-like region is highly acidic with low complexity regions in almost all family members.

names associated with subfamily members
SMARCAD1, hHEL1, Fun30p, snf2SR
1: Soininen, R., M. Schoor, et al. (1992). The mouse Enhancer trap locus 1 (Etl-1): a novel mammalian gene related to Drosophila and yeast transcriptional regulator genes. Mech Dev 39(1-2): 111-23. PubMed
2: Adra, C. N., J. L. Donato, et al. (2000). SMARCAD1, a novel human helicase family-defining member associated with genetic instability: cloning, expression, and mapping to 4q22-q23, a band rich in breakpoints and deletion mutants involved in several human diseases. Genomics 69(2): 162-73. PubMed
3: Clark, M. W., W. W. Zhong, et al. (1992). Identification of a Saccharomyces cerevisiae homolog of the SNF2 transcriptional regulator in the DNA sequence of an 8.6 kb region in the LTE1-CYS1 interval on the left arm of chromosome I. Yeast 8(2): 133-45. PubMed
4: Schoor, M., K. Schuster-Gossler, et al. (1999). Skeletal dysplasias, growth retardation, reduced postnatal survival, and impaired fertility in mice lacking the SNF2/SWI2 family member ETL1. Mech Dev 85(1-2): 73-83. PubMed
5: Ouspenski, II, S. J. Elledge, et al. (1999). New yeast genes important for chromosome integrity and segregation identified by dosage effects on genome stability. Nucleic Acids Res 27(15): 3001-8. PubMed
6: Barton, A. B. and D. B. Kaback (1994). Molecular cloning of chromosome I DNA from Saccharomyces cerevisiae: analysis of the genes in the FUN38-MAK16-SPO7 region. J Bacteriol 176(7): 1872-80. PubMed