- 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]
- arl-3 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable GTP binding activity. Predicted to be involved in cilium assembly. Predicted to be located in cytoplasm and microtubule cytoskeleton. Expressed in head neurons and tail neurons. Human ortholog(s) of this gene implicated in Joubert syndrome and retinitis pigmentosa 83. Is an ortholog of human ARL3 (ADP ribosylation factor like GTPase 3).