C1orf92
- Known as:
- C1orf92
- Catalog number:
- 002803A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- C1orf92
Related genes to: C1orf92
- Gene:
- LRRC71 NIH gene
- Name:
- leucine rich repeat containing 71
- Previous symbol:
- C1orf92
- Synonyms:
- FLJ32884
- Chromosome:
- 1q23.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-05-27
- Date modifiied:
- 2014-11-19
Related products to: C1orf92
Related articles to: C1orf92
- The structural integrity of the sperm flagellum is essential for male fertility, and its impairment is associated with reduced sperm motility. The sperm annulus is a septin-based fibrous ring that demarcates the midpiece and the principal piece. Notably, defects in sperm annulus formation frequently co-occur with abnormalities in flagellar structure; however, the underlying molecular mechanisms remain poorly understood. Herein, we identify an evolutionarily conserved leucine-rich repeat-containing protein, LRRC71, and show that its deficiency results in spermatozoa with a shortened mitochondrial sheath and a defective annulus, ultimately leading to male infertility. Further analysis reveals that LRRC71 deficiency leads to reduced sperm motility and decreased ATP levels following capacitation, effects that are potentially driven by a metabolic shift from oxidative phosphorylation to glycolysis. In addition, the protein levels of SEPT4, SEPT5, and SEPT7 are significantly reduced in Lrrc71-null spermatids. Mechanistically, LRRC71 directly binds SEPT4 via its N-terminal domain, thereby stabilizing the sperm annulus. Furthermore, the exogenous expression of SEPT4 rescues both motility and annulus defects in Lrrc71-null spermatozoa, confirming this functional hierarchy. Collectively, our findings demonstrate that LRRC71 serves as a central hub stabilizing sperm annulus integrity, providing insights into the pathogenic mechanisms underlying infertility associated with downregulation of LRRC71 in humans. - Source: PubMed
Publication date: 2026/07/23
Cheng JinmeiWang YuWang YuemingChen ZifengRen HeheLi JiahuiLiang YifanYang MingzheFan YashiLuo ZiyiXie YitianQi ZiqianWang GuishuanLi YinchuanSun Fei - Although sperm supply half the genomic material necessary for generating viable offspring in sexual reproduction, the core molecular mechanisms underlying their formation remain largely unelucidated. Here, we demonstrate that leucine-rich repeat-containing 71 (LRRC71) is essential for spermatogenesis and male fertility in mice. Lrrc71 knockout (KO) mice exhibit asthenozoospermia and disrupted mitochondrial sheaths in sperm. Both glycolysis and oxidative phosphorylation (OXPHOS) pathways were disrupted in Lrrc71 KO sperm, resulting in reduced ATP content. Furthermore, Lrrc71 KO sperm showed defective fertilization capacity and failed sperm migration into the oviduct. Key metabolic enzymes and fertilization-related proteins were significantly down-regulated in Lrrc71 KO sperm, and co-immunoprecipitation validated their interactions with LRRC71. Also, a novel heterozygous variant of LRRC71 was identified in a patient with asthenozoospermia. Despite failed in vitro fertilization (IVF), a successful intracytoplasmic sperm injection outcome was achieved in Lrrc71 KO mice. These findings demonstrate the essential role of LRRC71 in regulating spermatogenesis and sperm function, which facilitates our understanding of the molecular mechanisms underlying spermatogenesis. LRRC71 represents a potential target for the diagnosis and treatment of male infertility associated with asthenozoospermia. - Source: PubMed
Publication date: 2026/05/20
Yuan LuXu ChuanGe TingtingLi GuanghuaMeng ShiqiLu WentingYang YueqiZhao YichunFang XiaoZhao YaNiu ChangminZeng XuhuiYang FanZheng Ying - Milk production traits in sheep are influenced by complex genetic factors, and understanding these traits requires the identification of candidate genes under selection. This study employed two methods, FST and XP-EHH, to identify selection signatures and candidate genes associated with milk production traits in sheep. For this purpose, 9 different breeds from the Sheep HapMap dataset generated by the International Sheep Genomics Consortium (ISGC) based on analysis of the Ovine SNP50 BeadChip were used. The dairy breeds included Brown East Friesian (n = 39), Milk Lacaune (n = 103), Chios (n = 23), Churra (n = 120), and Comisana (n = 24), while the non-dairy breeds included Afshari (n = 37), Moghani (n = 34), Galway (n = 49), and Australian Suffolk (n = 109). Genomic regions in the top 0.1 percentile of FST values revealed 71 genes, while regions with the highest positive XP-EHH values identified 69 genes. Five overlapping genes-DHRS3, TNFRSF1B, AADACL4, ARHGEF11, and LRRC71-were detected by both methods, highlighting their relevance to milk production. Several candidate genes in regions identified from FST, such as PER2, SH3PXD2A, TMEM117, DDX6, PDCD11, CALHM2, and CALHM3, have been previously associated with milk production traits. Notably, CRABP2, PEAR1, PGM1, ALG6, COX15, and OAT were identified in regions with high XP-EHH values in the dairy group. Gene ontology analysis indicated that the identified genes are enriched in pathways related to chemokine receptor activity, gap junction channel activity, and gap junction-mediated intercellular transport, as well as cellular components like the connexin complex. Further studies on these genes may improve understanding of the genetic architecture of milk production traits in sheep. - Source: PubMed
Publication date: 2025/02/04
Ebrahimi FatemehGholizadeh MohsenSahebalam Hamid - Glioblastoma multiforme (GBM) is an aggressive form of brain tumours that remains incurable despite recent advances in clinical treatments. Previous studies have focused on sub-categorizing patient samples based on clustering various transcriptomic data. While functional genomics data are rapidly accumulating, there exist opportunities to leverage these data to decipher glioma-associated biomarkers. We sought to implement a systematic approach to integrating data from high throughput CRISPR-Cas9 screening studies with machine learning algorithms to infer a glioma functional network. We demonstrated the network significantly enriched various biological pathways and may play roles in glioma tumorigenesis. From densely connected glioma functional modules, we further predicted 12 potential Wnt/β-catenin signalling pathway targeted genes, including AARSD1, HOXB5, ITGA6, LRRC71, MED19, MED24, METTL11B, SMARCB1, SMARCE1, TAF6L, TENT5A and ZNF281. Cox regression modelling with these targets was significantly associated with glioma overall survival prognosis. Additionally, TRIB2 was identified as a glioma neoplastic cell marker in single-cell RNA-seq of GBM samples. This work establishes novel strategies for constructing functional networks to identify glioma biomarkers for the development of diagnosis and treatment in clinical practice. - Source: PubMed
Publication date: 2022/01/19
Xiang Chun-XiangLiu Xi-GuoZhou Da-QuanZhou YiWang XuChen Feng