Family Search for PF14950 (DUF4502)

PF14950 hits 2 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 11:369 / 915 (39.2%), covers 100.0% of PF14950, 607.9 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 1:58 / 601 (9.7%), covers 15.4% of PF14950, 89.4 bits

• Distinct pathways of homologous recombination controlled by the SWS1-SWSAP1-SPIDR complex.
  Prakash, Nature communications 2021
  • GeneRIF: Distinct pathways of homologous recombination controlled by the SWS1-SWSAP1-SPIDR complex.

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