- apc-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable molecular adaptor activity. Involved in several processes, including establishment of meiotic spindle localization; metaphase/anaphase transition of cell cycle; and polarity specification of anterior/posterior axis. Part of anaphase-promoting complex. Human ortholog(s) of this gene implicated in Rothmund-Thomson syndrome. Is an ortholog of human ANAPC1 (anaphase promoting complex subunit 1).
- Recql4 [Search on AGR]
Homo sapiens The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
- HRQ1 [Search on AGR]
Saccharomyces cerevisiae 3'-5' DNA helicase of the conserved RecQ family; involved in Pso2p-mediated interstrand crosslink repair; acts with Rad4p in nucleotide-excision repair; binds telomeres, modulates telomerase activity with Pif1p and inhibits telomere addition to dsDNA breaks; role in telomerase-independent telomere maintenance; lacks ssDNA annealing and strand exchange activities; human RecQL4, a structural and functional homolog, is involved in Rothmund-Thomson, Baller-Gerold and RAPADILINO syndromes
- Anapc1 [Search on AGR]
Rattus norvegicus Predicted to enable molecular adaptor activity. Predicted to be involved in anaphase-promoting complex-dependent catabolic process; metaphase/anaphase transition of mitotic cell cycle; and protein polyubiquitination. Predicted to be located in nucleus. Predicted to be part of anaphase-promoting complex. Human ortholog(s) of this gene implicated in Rothmund-Thomson syndrome. Orthologous to human ANAPC1 (anaphase promoting complex subunit 1); PARTICIPATES IN cell cycle pathway, mitotic; ubiquitin/proteasome degradation pathway; INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene.
- Usb1 [Search on AGR]
Homo sapiens This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
- Recql4 [Search on AGR]
Rattus norvegicus Predicted to enable DNA binding activity and DNA helicase activity. Predicted to be involved in DNA unwinding involved in DNA replication; double-strand break repair via homologous recombination; and telomeric D-loop disassembly. Predicted to act upstream of or within several processes, including negative regulation of sister chromatid cohesion; positive regulation of cell population proliferation; and skeletal system morphogenesis. Predicted to be located in chromosome, telomeric region and nucleoplasm. Predicted to be active in chromosome; cytoplasm; and nucleus. Human ortholog(s) of this gene implicated in Baller-Gerold syndrome; Rothmund-Thomson syndrome; and rapadilino syndrome. Orthologous to human RECQL4 (RecQ like helicase 4); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene; 2,6-dinitrotoluene.