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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:100,549,102-100,598,511)mRNA (may differ from genome)Protein (657 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
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.

-  MalaCards Disease Associations
  MalaCards Gene Search: SASS6
Diseases sorted by gene-association score: microcephaly 14, primary, autosomal recessive* (1279), autosomal recessive primary microcephaly (16), dental pulp necrosis (11), optic papillitis (11), microcephaly (10), dental pulp disease (9), chronic apical periodontitis (8), periapical periodontitis (7), enophthalmos (6), gingival disease (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.29 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 74.99 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -49.63141-0.352 Picture PostScript Text
3' UTR -393.931782-0.221 Picture PostScript Text

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
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
   Gene Details  
   Gene Sorter  
  Protein SequenceProtein Sequence  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0007049 cell cycle
GO:0007099 centriole replication
GO:0051298 centrosome duplication

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0098536 deuterosome

-  Descriptions from all associated GenBank mRNAs
  AY359522 - Homo sapiens hypothetical protein DKFZp761A078 mRNA, complete cds.
AK025750 - Homo sapiens cDNA: FLJ22097 fis, clone HEP17013.
AL834265 - Homo sapiens mRNA; cDNA DKFZp761A078 (from clone DKFZp761A078).
BX648406 - Homo sapiens mRNA; cDNA DKFZp686I15229 (from clone DKFZp686I15229).
BX641109 - Homo sapiens mRNA; cDNA DKFZp686C24224 (from clone DKFZp686C24224).
JD327619 - Sequence 308643 from Patent EP1572962.
JD314464 - Sequence 295488 from Patent EP1572962.
JD082015 - Sequence 63039 from Patent EP1572962.
JD168021 - Sequence 149045 from Patent EP1572962.
JD435824 - Sequence 416848 from Patent EP1572962.
JD531211 - Sequence 512235 from Patent EP1572962.
AK302513 - Homo sapiens cDNA FLJ54468 complete cds, highly similar to Spindle assembly abnormal protein 6 homolog.
JD410709 - Sequence 391733 from Patent EP1572962.
BC101026 - Homo sapiens spindle assembly 6 homolog (C. elegans), mRNA (cDNA clone MGC:119440 IMAGE:40007432), complete cds.
AK307824 - Homo sapiens cDNA, FLJ97772.
JD332149 - Sequence 313173 from Patent EP1572962.
JD350252 - Sequence 331276 from Patent EP1572962.
JD519835 - Sequence 500859 from Patent EP1572962.
KJ903943 - Synthetic construct Homo sapiens clone ccsbBroadEn_13337 SASS6 gene, encodes complete protein.
BC054889 - Homo sapiens spindle assembly 6 homolog (C. elegans), mRNA (cDNA clone IMAGE:6497976).
JD307898 - Sequence 288922 from Patent EP1572962.
JD314914 - Sequence 295938 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DT55, NM_194292, NP_919268, Q6UVJ0, Q8N3K0, SAS6, SAS6_HUMAN
UCSC ID: uc001dsu.3
RefSeq Accession: NM_194292
Protein: Q6UVJ0 (aka SAS6_HUMAN)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_194292.1
exon count: 17CDS single in 3' UTR: no RNA size: 3908
ORF size: 1974CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 3505.00frame shift in genome: no % Coverage: 99.72
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.