W03F8.4

Caenorhabditis elegans

Predicted to be involved in tRNA threonylcarbamoyladenosine modification. Predicted to be located in cytosol and nucleus. Predicted to be part of EKC/KEOPS complex. Human ortholog(s) of this gene implicated in Galloway-Mowat syndrome 5. Is an ortholog of human TPRKB (TP53RK binding protein).

Y48C3A.18

Caenorhabditis elegans

Predicted to enable nucleotidyltransferase activity and tRNA binding activity. Predicted to be involved in regulation of translational fidelity. Predicted to be located in cytoplasm. Human ortholog(s) of this gene implicated in Galloway-Mowat syndrome. Is an ortholog of human YRDC (yrdC N6-threonylcarbamoyltransferase domain containing).

TP53RK-DT

Homo sapiens

ASSOCIATED WITH Galloway-Mowat syndrome 4

F52C12.6

Caenorhabditis elegans

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in tRNA threonylcarbamoyladenosine metabolic process. Predicted to be located in cytosol and nucleus. Predicted to be part of EKC/KEOPS complex. Human ortholog(s) of this gene implicated in Galloway-Mowat syndrome 4. Is an ortholog of human TP53RK (TP53 regulating kinase).

Y71H2AM.1

Caenorhabditis elegans

Predicted to enable N(6)-L-threonylcarbamoyladenine synthase activity and metal ion binding activity. Predicted to be involved in tRNA threonylcarbamoyladenosine modification. Predicted to be located in cytoplasm. Predicted to be part of EKC/KEOPS complex. Human ortholog(s) of this gene implicated in Galloway-Mowat syndrome 3. Is an ortholog of human OSGEP (O-sialoglycoprotein endopeptidase).

npp-5

Caenorhabditis elegans

Predicted to be a structural constituent of nuclear pore. Involved in several processes, including kinetochore assembly; protein localization to kinetochore; and regulation of nucleus size. Located in nuclear membrane. Part of nuclear pore. Human ortholog(s) of this gene implicated in Galloway-Mowat syndrome; nephrotic syndrome type 11; and ovarian dysgenesis 6. Is an ortholog of human NUP107 (nucleoporin 107).

wdr-4

Caenorhabditis elegans

Predicted to be involved in tRNA modification. Predicted to be located in cytosol and nucleus. Predicted to be part of tRNA methyltransferase complex. Human ortholog(s) of this gene implicated in Galloway-Mowat syndrome and microcephaly, growth deficiency, seizures, and brain malformations. Is an ortholog of human WDR4 (WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit).

npp-15

Caenorhabditis elegans

Predicted to be a structural constituent of nuclear pore. Predicted to be involved in poly(A)+ mRNA export from nucleus; protein import into nucleus; and transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery. Located in kinetochore and nuclear membrane. Part of nuclear pore. Human ortholog(s) of this gene implicated in Galloway-Mowat syndrome and nephrotic syndrome type 18. Is an ortholog of human NUP133 (nucleoporin 133).

Ctag2l2

Rattus norvegicus

Human ortholog(s) of this gene implicated in Galloway-Mowat syndrome 2. Orthologous to human LAGE3 (L antigen family member 3); INTERACTS WITH 1,2-dichloroethane (ortholog).

Gon7

Homo sapiens

Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol; nucleolus; and nucleoplasm. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome. [provided by Alliance of Genome Resources, Apr 2025]