Human Gene SASS6 (uc001dsu.3) Description and Page Index
Description: Homo sapiens spindle assembly 6 homolog (C. elegans) (SASS6), mRNA. RefSeq Summary (NM_194292): The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016]. Transcript (Including UTRs) Position: hg19 chr1:100,549,102-100,598,511 Size: 49,410 Total Exon Count: 17 Strand: - Coding Region Position: hg19 chr1:100,550,884-100,598,370 Size: 47,487 Coding Exon Count: 17
ID:SAS6_HUMAN DESCRIPTION: RecName: Full=Spindle assembly abnormal protein 6 homolog; Short=HsSAS-6; FUNCTION: Required for centrosome duplication. Overexpression results in excess foci-bearing centriolar markers. SUBUNIT: Part of a ternary complex composed of SASS6, CENPJ and CEP350. Interacts with FBXW5. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, centrosome, centriole. Note=Component of the centrosome. Associated only transiently with nascent procentrioles during centriole biogenesis. PTM: Ubiquitinated by the SCF(FBXW5) E3 ubiquitin-protein ligase complex during S phase, leading its degradation and preventing centriole reduplication. SIMILARITY: Contains 1 PISA domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF16531 - Centriolar protein SAS N-terminal
ModBase Predicted Comparative 3D Structure on Q6UVJ0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.