Recently we cloned the Hanp1 cDNA that encodes a histone H1-like haploid germ cell-specific nuclear protein in the mouse. Homozygous Hanp1 mutant male mice were infertile, while females were fertile. Although a substantial number of sperm were recovered from the epididymis, their shape and function were abnormal. Hanp1 protein is essential for nuclear formation in functional spermatozoa, and is specifically involved in the replacement of histones with protamines during spermiogenesis. To investigate the roles of human HANP1 (h-HANP1) and its relation to male infertility, we isolated h-HANP1 cDNA from a human cDNA plasmid library using mouse Hanp1 cDNA as a probe. h-HANP1 is expressed in the testes and its genomic construct also intronless as mouse Hanp1. We found that the h-HANP1 coding region have 5 single-nucleotide polymorphisms in Japanese men.