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SCP3

Domain

Composed of a long central coiled coil domain. The N-terminal and C-terminal regions interact with DNA.

Function

Component of the synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for centromere pairing during meiosis in male germ cells (By similarity). Required for normal meiosis during spermatogenesis and male fertility (PubMed:14643120). Plays a lesser role in female fertility. Required for efficient phosphorylation of HORMAD1 and HORMAD2 (By similarity).

Involvement in disease

Spermatogenic failure 4

SPGF4

An infertility disorder characterized by azoospermia, a condition of having no sperm present in the ejaculate. Testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes.

None

The disease is caused by variants affecting the gene represented in this entry.

Pregnancy loss, recurrent, 4

RPRGL4

A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylated.

Sequence similarities

Belongs to the XLR/SYCP3 family.

Tissue specificity

Testis-specific.

Cellular localization

  • Nucleus
  • Chromosome
  • Chromosome
  • Centromere
  • It is present in early unpaired cores, in the lateral domains of the synaptonemal complex and in the chromosome cores when they separate at diplotene. It is found axial to the metaphase I chromosomes and in association with pairs of sister centromeres. The centromere-associated protein becomes dissociated from the centromeres at anaphase II and is not found in mitotic metaphase centromeres.

Alternative names

  • Synaptonemal complex protein 3
  • SCP-3
  • SCP3
  • SYCP3

Target type

Proteins

Molecular weight

27729Da