- Pcyt2 [Search on AGR]
Homo sapiens This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
- CKI1 [Search on AGR]
Saccharomyces cerevisiae Choline kinase; catalyzes the first step in phosphatidylcholine synthesis via the CDP-choline (Kennedy pathway); exhibits some ethanolamine kinase activity contributing to phosphatidylethanolamine synthesis via the CDP-ethanolamine pathway; CKI1 has a paralog, EKI1, that arose from the whole genome duplication
- 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]