Family Search for PF14951 (DUF4503)
April 2024: See Interactive Tools for Functional Annotation of Bacterial Genomes for advice on using these tools.
PF14951 hits 3 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.
SPIDR_HUMAN / Q14159 DNA repair-scaffolding protein; Scaffolding protein involved in DNA repair from Homo sapiens (Human) (see 6 papers)
NP_001073863 DNA repair-scaffolding protein isoform 1 from Homo sapiens
Aligns to 521:906 / 915 (42.2%), covers 99.7% of PF14951, 662.4 bits
- function: Plays a role in DNA double-strand break (DBS) repair via homologous recombination (HR). Serves as a scaffolding protein that helps to promote the recruitment of DNA-processing enzymes like the helicase BLM and recombinase RAD51 to site of DNA damage, and hence contributes to maintain genomic integrity.
subunit: Found in a complex, at least composed of BLM, RAD51 and SPIDR; the complex formation is mediated by SPIDR. Interacts (via C-terminal region) with BLM; the interaction is direct. Interacts with RAD51; the interaction is direct. Interacts (via the C-terminal region) with FIGNL1 (via N-terminal one-half region); the interaction is direct. - A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability.
Heddar, Clinical genetics 2022 (PubMed)- GeneRIF: A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability.
- The human Shu complex functions with PDS5B and SPIDR to promote homologous recombination.
Martino, Nucleic acids research 2019 - GeneRIF: our study uncovers a protein complex, which consists of SWS1, SWSAP1, SPIDR and PDS5B, involved in DNA repair and provides insight into Shu complex function and composition.
- A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis.
Smirin-Yosef, The Journal of clinical endocrinology and metabolism 2017 (PubMed)- GeneRIF: A biallelic mutation in SPIDR may be associated with ovarian dysgenesis in cases of autosomal recessive inheritance.
- Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair.
Wan, Proceedings of the National Academy of Sciences of the United States of America 2013 - GeneRIF: Consistent with its role as a scaffolding protein for the assembly of BLM and RAD51 foci, cells depleted of SPIDR show increased rate of sister chromatid exchange and defects in homologous recombination repair.
- Instability at the FRA8I common fragile site disrupts the genomic integrity of the KIAA0146, CEBPD and PRKDC genes in colorectal cancer.
Brueckner, Cancer letters 2013 (PubMed)- GeneRIF: The FRA8I fragile site includes KIAA0146, CEBPD and PRKDC and may have a role in colorectal cancer
- FIGNL1-containing protein complex is required for efficient homologous recombination repair.
Yuan, Proceedings of the National Academy of Sciences of the United States of America 2013 - GeneRIF: KIAA0146 is also known as scaffolding protein involved in DNA repair (SPIDR), as a binding partner of FIGNL1 and established that KIAA0146/SPIDR acts with FIGNL1 in homologous recombination repair
NP_001342660 DNA repair-scaffolding protein isoform 2 from Mus musculus
Aligns to 208:589 / 601 (63.6%), covers 99.7% of PF14951, 606.8 bits
E5RFY2 Scaffold protein involved in DNA repair (Fragment) from Homo sapiens
Aligns to 1:92 / 92 (100.0%), covers 23.5% of PF14951, 155.6 bits
Or search for genetic data about PF14951 in the Fitness Browser
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory