SPAG6 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 antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Details

Type
Protein Coding
Official Symbol
SPAG6
Official Name
sperm associated antigen 6 [Source:HGNC Symbol;Acc:HGNC:11215]
Ensembl ID
ENSG00000077327
Bio databases IDs NCBI: 9576 Ensembl: ENSG00000077327
Aliases sperm associated antigen 6, axoneme central apparatus protein
Synonyms CFAP194, CT141, FAP194, Gm13334, PF16, Repro-SA-1, Spag6l, sperm associated antigen 6
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 SPAG6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Armadillo/beta-catenin-like repeat
  • HEAT-like repeat
  • Armadillo/beta-catenin-like repeats
  • HEAT repeats

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • breast carcinoma
  • cryptorchidism
  • teratoma
  • germ cell neoplasia
  • TCF3-PBX1 fusion positive acute lymphoblastic leukemia
regulated by
role in cell
  • expression in
  • proliferation
  • apoptosis
  • G1/S phase transition
  • cloning by
  • Gap 0-Gap 1 phase

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
  • microtubule cytoskeleton
  • microtubules
  • axonemes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SPAG6 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • epithelial cilium movement
  • sperm axoneme assembly
  • filopodium assembly

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • microtubule cytoskeleton
  • acrosomal vesicle
  • sperm principal piece
  • extracellular region
  • axoneme
  • microtubule

Molecular Function

What the gene product does at the molecular level
  • microtubule binding

Gene-Specific Assays for Results You Can Trust

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