Gene: SPAG1

Alternate names for this Gene: CILD28|CT140|HEL-S-268|HSD-3.8|SP75|TPIS

Gene Summary: The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein.

Gene is located in Chromosome: 8

Location in Chromosome : 8q22.2

Description of this Gene: sperm associated antigen 1

Type of Gene: protein-coding

rs1060503104 in SPAG1 gene and CILIARY DYSKINESIA, PRIMARY, 28 PMID 24055112 2013 Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.

PMID 26228299 2016 An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.

PMID 27637300 2016 Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

rs201740530 in SPAG1 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 24055112 2013 Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.