Alternative titles; symbolsFEM1, C. ELEGANS, HOMOLOG OF, CKIAA1785HGNC Approved Gene Symbol: FEM1CCytogenetic location: 5q22.3 Genomic coordinates (GRCh38): ...
Alternative titles; symbols
HGNC Approved Gene Symbol: FEM1C
Cytogenetic location: 5q22.3 Genomic coordinates (GRCh38): 5:115,520,907-115,544,774 (from NCBI)
▼ Cloning and Expression
By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2001) cloned FEM1C, which they designated KIAA1785. The deduced 617-amino acid protein shares 41% identity with FEM1B, an ankyrin repeat protein. RT-PCR ELISA detected intermediate expression in all adult and fetal tissues and specific brain regions examined except lung, which showed little to no expression.
By sequencing clones obtained from a human fetal cartilage cDNA library, Krakow et al. (2001) cloned FEM1C, which they designated FEM1A. FEM1C contains 6 ankyrin repeats and shares 65% amino acid identity with mouse Fem1a and 34% identity with C. elegans Fem1, a protein involved in nematode sex determination. Northern blot analysis detected transcripts of about 4.5 and 7.5 kb in all tissues examined, with highest abundance in heart and kidney. Lower expression was detected in brain, skeletal muscle, lung, liver, placenta, and cartilage. RT-PCR detected FEM1C in all tissues examined.
By searching an EST database for sequences similar to mouse Fem1c, Ventura-Holman et al. (2003) identified FEM1C. The deduced protein shares more than 99% identity with the mouse homolog. Northern blot analysis detected faint expression of 6.2- and 3.8-kb transcripts in all human tissues examined, with highest levels in skeletal muscle, heart, and testis. Testis showed an additional message of about 2.8 kb. In brain, expression of FEM1C was highest in cerebellum and occipital pole. Northern blot analysis detected multiple messages and a similar expression pattern in adult mouse tissues. A message of about 6.2 kb was detected in mouse embryos from day 7 through day 17.
▼ Gene Structure
Krakow et al. (2001) determined that the FEM1C gene contains 3 exons. Exon 1 is noncoding.
By genomic sequence analysis and radiation hybrid analysis, Krakow et al. (2001) mapped the FEM1C gene to chromosome 5q23.1.
By FISH, Ventura-Holman et al. (2003) mapped the FEM1C gene to chromosome 5q22. They mapped the mouse Fem1c gene to a region of chromosome 18 that shows homology of synteny to human chromosome 5q22.
▼ Animal Model
Schlamp et al. (2004) found that homozygous ROSA3 mice, which have a reporter gene inserted into the first intron of Fem1c, showed no adverse effects in their sexual development or fertility. Some tissues showed low levels of a partially processed Fem1c transcript containing exons 2 and 3, which are the protein-coding exons.