DISEASES

Disease-gene associations mined from literature

SPAG5 disease associations

SPAG5 [ENSP00000323300]

Sperm-associated antigen 5; Essential component of the mitotic spindle required for normal chromosome segregation and progression into anaphase . Required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:17664331, PubMed:27462074). In complex with SKAP, promotes stable microtubule- kinetochore attachments. May contribute to the regulation of separase activity. May regulate AURKA localization to mitotic spindle, but not to centrosomes and CCNB1 localization to both mitotic spindle and centrosomes . Involved in centriole duplication. Required for CDK5RAP2, CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 . In non-mitotic cells, upon stress induction, inhibits mammalian target of rapamycin complex 1 (mTORC1) association and recruits the mTORC1 component RPTOR to stress granules (SGs), thereby preventing mTORC1 hyperactivation-induced apoptosis . May enhance GSK3B-mediated phosphorylation of other substrates, such as MAPT/TAU . ECO:0000269|PubMed:18055457, ECO:0000269|PubMed:18361916, ECO:0000269|PubMed:21402792, ECO:0000269|PubMed:23953116, ECO:0000269|PubMed:26297806, ECO:0000269|PubMed:27462074,

Synonyms:  SPAG5,  SPAG5p,  hSPAG5,  F5GZT2,  J3KSV2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM