- Lpcat4 [Search on AGR]
Homo sapiens Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).[supplied by OMIM, May 2008]
- Rimklb [Search on AGR]
Mus musculus PHENOTYPE: Mice homozygous for a 3 bp deletion exhibit male infertility, with decreased sperm counts, impaired sperm motility, sperm head abnormalities and incomplete spermatogenesis. [provided by MGI curators]
- GPI10 [Search on AGR]
Saccharomyces cerevisiae Integral membrane protein involved in GPI anchor synthesis; putative alpha 1,2 mannosyltransferase required for addition of the third mannose onto the glycosylphosphatidylinositol (GPI) core structure; human PIG-Bp is a functional homolog
- etr-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable mRNA 3'-UTR binding activity. Involved in determination of adult lifespan. Located in nucleus. Expressed in body wall musculature; cloacal sphincter muscle; copulatory spicule; non-striated muscle; and somatic gonad. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 97. Is an ortholog of human CELF1 (CUGBP Elav-like family member 1).
- REPTOR-BP [Search on AGR]
Drosophila melanogaster REPTOR-binding partner (REPTOR-BP) encodes a transcription factor constitutively localized in the nucleus. Together with its binding partner encoded by REPTOR, it mediates much of the transcriptional response observed upon Tor complex 1 inhibition.
- Sim1 [Search on AGR]
Saccharomyces cerevisiae Protein of the SUN family (Sim1p, Uth1p, Nca3p, Sun4p); may participate in DNA replication; promoter contains SCB regulation box at -300 bp indicating that expression may be cell cycle-regulated; SIM1 has a paralog, SUN4, that arose from the whole genome duplication
- REPTOR [Search on AGR]
Drosophila melanogaster Repressed by TOR (REPTOR) encodes a transcription factor that shuttles between cytoplasm and nucleus depending on the state of the activity of the product of mTor. Together with its binding partner encoded by REPTOR-BP, it mediates much of the transcriptional response observed upon Tor complex 1 inhibition.
- Hc [Search on AGR]
Mus musculus PHENOTYPE: Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. <P>The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.</P> [provided by MGI curators]
- Mtrfr [Search on AGR]
Homo sapiens This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
- Cc2d1a [Search on AGR]
Homo sapiens This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017]