SPATA18 is a 538 amino acid protein that is thought to play a role in cell differentiation during spermatogenesis, particularly during development from late elongate spematids to mature spermatozoa. Localizing to cytoplasm, SPATA18 is encoded by a gene that maps to human chromosome 4q12. Chromosome 4 represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
Function:
Potential role in spermatogenesis, especially in cell differentiation from late elongate spematids to mature spermatozoa.
Subunit:
Interacts (via coiled-coil domains) with BNIP3L (via SH3 domain). Interacts (via coiled-coil domains) with BNIP3 (via SH3 domain).
Subcellular Location:
Cytoplasm.
Similarity:
Belongs to the MIEAP family.
SWISS:
Q8TC71
Gene ID:
132671
Database links:
Entrez Gene: 132671 Human
Entrez Gene: 289586 Rat
Omim: 612814 Human
SwissProt: Q8TC71 Human
SwissProt: Q6AYL6 Rat
Unigene: 527090 Human
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