Ask about this productRelated genes to: SPACA1 Blocking Peptide
- Gene:
- SPACA1 NIH gene
- Name:
- sperm acrosome associated 1
- Previous symbol:
- -
- Synonyms:
- SAMP32
- Chromosome:
- 6q15
- Locus Type:
- gene with protein product
- Date approved:
- 2001-04-05
- Date modifiied:
- 2015-08-26
Related products to: SPACA1 Blocking Peptide
Related articles to: SPACA1 Blocking Peptide
- The SPINK2 protein, encoded by the SPINK2 gene, plays an essential role in the normal development of spermatozoa, and its deficiency is associated with spermatogenesis disorders ranging from aspermia to azoospermia. This study aimed to identify the most deleterious variants of the SPINK2 gene and to evaluate their effects on protein structure and function through an in silico approach. A total of 8,028 variants were identified, including 72 missense variants. Using 11 bioinformatics tools, six variants (P50L, T58I, C66Y, E62A, P42S, and P45L) were predicted to have deleterious effects. Protein-protein interaction analysis using the STRING database revealed strong functional associations between SPINK2, SPINK1, and ACR, and medium-confidence associations with SPINK4, SPINK13, PMPCA, KLK4, SPINK9, SPINK6, SPACA1, and NUDT8. Local structural analysis showed that variants such as T58I and C66Y gained additional hydrophobic interactions, whereas P50L and P42S lost key interactions, potentially impairing protein stability and function. Molecular dynamics simulations using GROMACS revealed that P50L enhances protein stability, reduces amino acid flexibility, and increases the overall dimensions of the protein. T58I had a mild effect on stability, whereas E62A and C66Y decreased stability and flexibility while increasing protein size. P42S and P45L induced slight stability alterations, reduced flexibility, and enlarged the protein. Overall, these structural and dynamic changes suggest functional impairment of SPINK2. To our knowledge, this is the first study to identify six deleterious SPINK2 variants with potential roles in the disruption of spermatogenesis, providing a foundation for future functional and clinical investigations. - Source: PubMed
Publication date: 2026/01/30
Elkarhat GhitaAit Benichou SamahRedouane SalaheddineBarakat AbdelhamidSoukri AbdelazizEl Khalfi BouchraRouba Hassan - Oligoasthenoteratozoospermia (OAT) is a prevalent situation of male infertility partly caused by genetic defects with largely undiscovered. To further unravel the genetic etiology of OAT, we recruited cases for whole-exome sequencing (WES) to screen candidate pathogenic mutations. Here, we identified a heterozygous missense mutation in transcription factor-like 5 (TCFL5) (NM_006602.4: c.1207G > A: p.E403K) from two infertile brothers born into a non-consanguineous family. TCFL5 was previously linked to male infertility since Tcfl5 male mice manifested infertile due to OAT, while Tcfl5 mice could not be generated. Sperm morphological analysis of these brothers exhibited a similar OAT phenotype to Tcfl5 mice. In vitro functional analysis performed to explore the pathogenicity of TCFL5 mutation. Regardless of no significant effect on the expression of mutant TCFL5 detected by western blotting and immunofluorescence, dual-luciferase reporter assay revealed a serious impact on its transcriptional regulatory function. Many crucial genes involved in spermatogenesis, such as DMRT1, DAZL, SYCE1, SPACA1, CNTROB, IFT88, HOOK1 and SPATA6, occurred transcriptional abnormalities after TCFL5 mutated. Our results showed that TCFL5 mutation disrupted the normal transcription of spermatogenesis genes, finally resulting in male infertility raised by OAT. Our work firstly linked TCFL5 mutation to male infertility in human, which provides a new perspective on the genetic underpinnings of OAT and a theoretical basis for clinic genetic counseling and treatment strategies selection. - Source: PubMed
Publication date: 2025/07/25
Yu KexinZhang WenchenWang YuXiang MingfeiZheng NaZhang JingjingZha XiaominDuan ZongliuWang FengsongCao YunxiaZhu Fuxi - Semen sexing is a much sought-after technique in the livestock industry. Current research focuses on selecting DNA aptamers (Synthetic single-stranded DNA) against X-sorted sperm. - Source: PubMed
Publication date: 2025/06/21
Bhushan VanyaParashar AbhishekMahanandia Nimai CharanMohanty Tushar KumarKaushik Jai KumarKumar SudarshanMohanty Ashok Kumar - Despite the lack of essential cytoplasmic organelles in mature spermatozoa, which creates unfavorable conditions for transcription and translation, the presence of various mRNA and proteins during capacitation suggests potential for de novo protein synthesis. - Source: PubMed
Publication date: 2025/03/18
Park Yoo-JinPang Won-KiRyu Do-YealRahman Md SaidurPang Myung-Geol - Molecular-based biomarkers are believed to be more accurate in determining bulls' fertility and sperm's various fertility characteristics. The sperm acrosome-associated 1 (SPACA1) molecule, located in the anterior acrosomal and equatorial segments of the sperm head, is thought to be related to the function of binding and fusion between sperm and oocyte. This study aims to analyze the association of SPACA1 mRNA and protein with the fertility rate and semen quality of Bali bulls (Bos sondaicus) and assess its potential as a potential molecular biomarker determining bull fertility and sperm quality. Frozen semen from 20 Bali bulls was used in the research, which was then divided into two groups: high (HF) and low fertility (LF). SPACA1 mRNA abundance was analyzed using qRT-PCR, and SPACA1 protein abundance was analyzed using EIA. The semen quality parameters analyzed were motility (CASA), plasma membrane integrity (HOS test), sperm head morphology abnormalities (William staining), sperm viability (SYBR 14-PI), sperm capacitation (CTC assay), and sperm acrosome integrity (FITC-PNA). The results showed that there was a significant difference (P < 0.05) between high fertility (HF) and low fertility (LF) bulls, both in the abundance of SPACA1 at the mRNA, protein, and semen quality levels. Overall, the correlation test results showed a close relationship (P < 0.01) between the abundance of SPACA1 mRNA and protein with field fertility and various semen quality parameters tested in the study. A low level of SPACA1 molecules indicates low fertility and semen quality in Bali bulls. The SPACA1 molecule has the potential to be developed through further research to become a biomarker for determining fertility and semen quality in bulls. - Source: PubMed
Publication date: 2024/11/17
Agil MuhammadPardede Berlin PandapotanPurwantara BambangArifiantini Raden IisHasbi HasbiSonjaya HerrySaid SyahruddinSuyadi SuyadiSeptian Wike AndreNugraha Chairdin DwiPutri Rafika FebrianiArdianto AriIskandar HikmayaniPamungkas Fitra AjiMemili Erdogan