Gene Symbol: SUN5
Description: Sad1 and UNC84 domain containing 5
Alias: SPAG4L, SPGF16, TSARG4, dJ726C3.1, SUN domain-containing protein 5, sad1 and UNC84 domain-containing protein 5, sperm-associated antigen 4-like protein, testis and spermatogenesis related gene 4, testis and spermatogenesis-related gene 4 protein
Sha Y, Xu X, Ji Z, Lin S, Wang X, Qiu P, et al
. Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China. Gene. 2018;647:221-225 pubmed publisher
..A recent study showed that genetic alterations in the SUN5 gene lead to this disease, and SUN5 mutations could explain the disease in about half of the patients...
Tarnasky H, Gill D, Murthy S, Shao X, Demetrick D, van der Hoorn F. A novel testis-specific gene, SPAG4, whose product interacts specifically with outer dense fiber protein ODF27, maps to human chromosome 20q11.2. Cytogenet Cell Genet. 1998;81:65-7 pubmed
..In this study we isolated the human homolog of the spermatid-specific rat SPAG4 gene and mapped it by fluorescence in situ hybridization to chromosome 20q11.2. ..
Kierszenbaum A, Tres L. Bypassing natural sperm selection during fertilization: the azh mutant offspring experience and the alternative of spermiogenesis in vitro. Mol Cell Endocrinol. 2002;187:133-8 pubmed
..Available data indicate that the manchette is a highly dynamic structure providing microtubular tracks to structural proteins participating in the sperm tail development. ..
Jiang X, Yang M, Huang L, Li C, Xing X. SPAG4L, a novel nuclear envelope protein involved in the meiotic stage of spermatogenesis. DNA Cell Biol. 2011;30:875-82 pubmed publisher
..In this study, we sought to characterize and define the potential function of SPAG4L, a newly identified SUN protein...
Elkhatib R, Paci M, Longepied G, Saias Magnan J, CourbiÃ¨re B, Guichaoua M, et al
. Homozygous deletion of SUN5 in three men with decapitated spermatozoa. Hum Mol Genet. 2017;26:3167-3171 pubmed publisher
A recent study of 17 men with decapitated spermatozoa found that 8 carried two rare SUN5 alleles, and concluded that loss of SUN5 function causes the acephalic spermatozoa syndrome...
Shao X, Tarnasky H, Lee J, Oko R, van der Hoorn F. Spag4, a novel sperm protein, binds outer dense-fiber protein Odf1 and localizes to microtubules of manchette and axoneme. Dev Biol. 1999;211:109-23 pubmed
..Spag4 is detectable in the transient manchette and it is associated with the axoneme in elongating spermatids and epididymal sperm. Our data suggest a role for Spag4 in protein localization to two major sperm tail structures. ..
Xing X, Li L, Fu J, Zhu W, Liu G, Liu S, et al
. [Cloning of cDNA of TSARG4, a human spermatogenesis related gene]. Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai). 2003;35:283-8 pubmed
..This 1252 bp fragment was named TSARG4 (testis and spermatogenesis related gene 4 (GenBank accession number AF401350)...
Zhu F, Wang F, Yang X, Zhang J, Wu H, Zhang Z, et al
. Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. Am J Hum Genet. 2016;99:942-949 pubmed publisher
..1006C>T [p.Arg356Cys] and c.485T>A [p.Met162Lys]) SUN5 (also named TSARG4) variants...