SPAG1 Gene Summary [Human]

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. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
SPAG1
Official Name
sperm associated antigen 1 [Source:HGNC Symbol;Acc:HGNC:11212]
Ensembl ID
ENSG00000104450
Bio databases IDs NCBI: 6674 Ensembl: ENSG00000104450
Aliases sperm associated antigen 1, dynein axonemal assembly factor 13
Synonyms CILD28, CT140, DNAAF13, HEL-S-268, HSD-3.8, SP75, sperm associated antigen 1, TPIS
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SPAG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • TPR repeat
  • Tetratricopeptide repeats
  • mitochondrial import receptor subunit TOM70
  • tetratricopeptide repeat
  • Potential Monad-binding region of RPAP3

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • chronic obstructive pulmonary disease
  • primary ciliary dyskinesia type 28
  • complex regional pain syndrome
  • nocturnal frontal lobe epilepsy type 5
  • primary ciliary dyskinesia
  • primary ciliary dyskinesia type 28 without situs inversus
  • atopic dermatitis
  • primary ciliary dyskinesia type 28 with situs inversus
regulates
  • cyclic AMP
  • adenosine triphosphate
  • TUBG1
  • MAPK
  • AMPK
  • actin
role in cell
  • expression in
  • activation in
  • formation
  • phosphorylation in
  • formation in
  • detachment
  • assembly
  • detachment in
  • assembly in
  • extrusion

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cilia
  • cytosol
  • nucleoplasm
  • meiotic spindles
  • perinuclear focus

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SPAG1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • axonemal dynein complex assembly
  • protein stabilization
  • single fertilization

Cellular Component

Where in the cell the gene product is active
  • cytoplasm
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • GTP binding
  • hydrolase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.