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
references
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
