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PITH DOMAIN-CONTAINING PROTEIN 1; PITHD1

PITH DOMAIN-CONTAINING PROTEIN 1; PITHD1

Alternative titles; symbolsTXNL1 C-TERMINAL LIKE; TXNL1CLCHROMOSOME 1 OPEN READING FRAME 128; C1ORF128HGNC Approved Gene Symbol: PITHD1Cytogenetic location: 1p36...

Alternative titles; symbols

  • TXNL1 C-TERMINAL LIKE; TXNL1CL
  • CHROMOSOME 1 OPEN READING FRAME 128; C1ORF128

HGNC Approved Gene Symbol: PITHD1

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:23,778,416-23,788,231 (from NCBI)

▼ Description
PITHD1 encodes a proteosome-interacting protein that plays an essential role in male fertilization (Kondo et al., 2020).

▼ Cloning and Expression
The proteasome is a large molecular complex that is responsible for protein degradation in cells. This process is essential for protein homeostasis and for various biologic functions, including cell cycle regulation, signal transduction, and immune response. Kondo et al. (2020) identified Pithd1 as a proteasome-interacting protein that is highly expressed in mouse testis and cortical thymic epithelium.

▼ Gene Function
Kondo et al. (2020) showed that mouse Pithd1 associated with immunoproteasomes in the testis, but not with thymoproteasomes in cortical thymic epithelial cells.

▼ Animal Model
Kondo et al. (2020) found that male mice with deficiency or knockout of Pithd1 were infertile due to morphologic abnormalities and impaired motility of spermatozoa. In comparison with sperm from male Pithd1 +/+ mice, sperm from male Pithd1 -/- mice had significantly reduced levels of 7 proteins known to be important for fertilization capability, including the 19S proteasomal regulatory subunits Psmc2 (154365) and Psmd1 (617842). Fertility was not affected in Pithd1-deficient or null female mice. None of the mutant animals had defects of the thymus or of T-cell development, suggesting that a redundant pathway exists in thymic cells.

Tags: 1p36.11