bs

Drosophila melanogaster

blistered (bs) encodes the Drosophila ortholog of mammalian Serum Response Factor (SRF). It is a sequence-specific transcription factor contributing to intervein cell specification in the wing, tracheal terminal branching and flight muscle maturation.

ist-1

Caenorhabditis elegans

Predicted to enable insulin receptor binding activity; phosphatidylinositol 3-kinase binding activity; and transmembrane receptor protein tyrosine kinase adaptor activity. Involved in dauer larval development; insulin receptor signaling pathway; and short-term memory.

Glis1

Homo sapiens

GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008]

Adig

Homo sapiens

ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM, Mar 2008]

Mrtf

Drosophila melanogaster

Myocardin-related transcription factor (Mrtf) encodes a protein that binds to the product of bs, and likely other transcription factors, to enhance downstream gene activation. The activity of the product of Mrtf is regulated by free actin levels. It contributes to tracheal branching, border cell migration, and other cell stretching and invasive migration processes during development.

Cerk

Homo sapiens

CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]

ebo

Drosophila melanogaster

ellipsoid body open (ebo) encodes a protein that complexes with actin, the product of chic, and Ran-GTPase to mediate actin nuclear export. Loss of ebo during development results in defects in the ellipsoid body of the central complex. In the adult brain, accumulation of nuclear actin results in the inhibition of the product of bs and subsequent loss of visual orientation memory.

Son

Mus musculus

PHENOTYPE: Homozygous null mice die before E6.5-7.5. Heterozygous mice model Zhu-Tokita-Takenouchi-Kim syndrome, with growth retardation, cognitive impairment, skeletal abnormalities, kidney agenesis, hematopoietic abnormalities including leukopenia and immunoglobulin deficiency and impaired erythropoiesis. [provided by MGI curators]

Acp1

Homo sapiens

The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]

Ctif

Homo sapiens

CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]