SASS6

Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene.^[5][6][7]

SASS6
Identifiers
Aliases	SASS6, SAS-6, SAS6, MCPH14, SAS-6 centriolar assembly protein
External IDs	OMIM: 609321; MGI: 1920026; HomoloGene: 45668; GeneCards: SASS6; OMA:SASS6 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p21.2 Start 100,083,563 bp[1] End 100,132,955 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 G1 Start 116,388,631 bp[2] End 116,424,653 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte testicle gonad ventricular zone ganglionic eminence Achilles tendon endothelial cell rectum appendix Top expressed in spermatid spermatocyte genital tubercle tail of embryo Paneth cell seminiferous tubule ventricular zone gray matter layer of cerebellum granulocyte maxillary prominence More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm centriole cytoskeleton deuterosome microtubule organizing center cytosol centrosome Biological process cell cycle centriole replication centrosome duplication Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 163786 72776 Ensembl ENSG00000156876 ENSMUSG00000027959 UniProt Q6UVJ0 Q80UK7 RefSeq (mRNA) NM_194292 NM_001304829 NM_001289568 NM_001289571 NM_028349 RefSeq (protein) NP_001291758 NP_919268 NP_001276497 NP_001276500 NP_082625 Location (UCSC) Chr 1: 100.08 – 100.13 Mb Chr 3: 116.39 – 116.42 Mb PubMed search [3] [4]
Wikidata
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Function

SAS-6 is necessary for centrosome duplication and functions during procentriole formation; SAS-6 functions to ensure that each centriole seeds the formation of a single procentriole per cell cycle.^[8]

Clinical significance

Mutations in SASS6 are associated to MCPH.^[9]