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SASS6 Gene

protein-coding   GIFtS: 48
GCID: GC01M100549

Spindle Assembly 6 Homolog (C. Elegans)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Spindle Assembly 6 Homolog (C. Elegans)1 2
SAS62 3 5
SAS-62
hsSAS-62
Spindle Assembly Abnormal Protein 6 Homolog2
HsSAS-63

External Ids:    HGNC: 254031   Entrez Gene: 1637862   Ensembl: ENSG000001568767   OMIM: 6093215   UniProtKB: Q6UVJ03   

Export aliases for SASS6 gene to outside databases

Previous GC identifers: GC01M100263 GC01M098671


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SASS6 Gene:
SAS6 is necessary for centrosome duplication and functions during procentriole formation; SAS6 functions to ensure
that each centriole seeds the formation of a single procentriole per cell cycle Strnad et al., (2007) (PubMed
17681132).(supplied by OMIM, Mar 2008)

GeneCards Summary for SASS6 Gene:
SASS6 (spindle assembly 6 homolog (C. elegans)) is a protein-coding gene. Diseases associated with SASS6 include bullous pemphigoid, and microcephaly.

UniProtKB/Swiss-Prot: SAS6_HUMAN, Q6UVJ0
Function: Central scaffolding component of the centrioles ensuring their 9-fold symmetry. Required for centrosome
biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and
deuterosome-dependent centriole amplification in multiciliated cells. Overexpression results in excess
foci-bearing centriolar markers

Gene Wiki entry for SASS6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the SASS6 gene promoter:
         NF-AT   AREB6   NF-AT4   NF-AT2   POU2F1   POU2F1b   POU2F1a   NF-AT3   Cart-1   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSASS6 promoter sequence
   Search Chromatin IP Primers for SASS6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SASS6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p21.2   Ensembl cytogenetic band:  1p21.2   HGNC cytogenetic band: 1p21.3

SASS6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SASS6 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M100549:  view genomic region     (about GC identifiers)

Start:
100,549,100 bp from pter      End:
100,598,511 bp from pter
Size:
49,412 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SAS6_HUMAN, Q6UVJ0 (See protein sequence)
Recommended Name: Spindle assembly abnormal protein 6 homolog  
Size: 657 amino acids; 74397 Da
Subunit: Nine homodimers form a cartwheel structure with an internal diameter of 23 nM and radial spokes
connecting to the microtubule triplets (By similarity). Part of a ternary complex composed of SASS6, CENPJ and
CEP350. Interacts with FBXW5
Secondary accessions: D3DT55 Q8N3K0

Explore the universe of human proteins at neXtProt for SASS6: NX_Q6UVJ0

Explore proteomics data for SASS6 at MOPED

Post-translational modifications: 

  • Ubiquitinated by the SCF(FBXW5) E3 ubiquitin-protein ligase complex during S phase, leading to its degradation and
    preventing centriole reduplication1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SASS6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_919268.1  
    ENSEMBL proteins: 
     ENSP00000287482   ENSP00000440169  

    SASS6 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for SASS6

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q6UVJ0

    UniProtKB/Swiss-Prot: SAS6_HUMAN, Q6UVJ0
    Domain: The 35 nM long coiled-coil domain mediates homodimerization while the globular N-terminus links the dimers
    at an angle of 40 degrees to form the inner ring (By similarity)
    Similarity: Contains 1 PISA domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SAS6_HUMAN, Q6UVJ0
    Function: Central scaffolding component of the centrioles ensuring their 9-fold symmetry. Required for centrosome
    biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and
    deuterosome-dependent centriole amplification in multiciliated cells. Overexpression results in excess
    foci-bearing centriolar markers

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    SASS6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SASS6:
     Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SASS6
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SASS6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SASS6

    miRNA
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    miRTarBase miRNAs that target SASS6:
    hsa-mir-192-5p (MIRT026834), hsa-mir-18a-5p (MIRT050698)

    Block miRNA regulation of human, mouse, rat SASS6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SASS6 (see all 13):
    hsa-miR-498 hsa-miR-433 hsa-miR-623 hsa-miR-576-5p hsa-miR-125a-3p hsa-miR-4263 hsa-miR-764 hsa-miR-211
    SwitchGear 3'UTR luciferase reporter plasmidSASS6 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SAS6_HUMAN, Q6UVJ0: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton,
    microtubule organizing center, centrosome, centriole. Note=Component of the deuterosome, a structure that
    promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles (By
    similarity). Component of the centrosome. Associated only transiently with nascent procentrioles during centriole
    biogenesis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome NAS14654843
    GO:0005814centriole IDA17681131
    GO:0098536deuterosome ISS--

    SASS6 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SASS6
    Interactions:

        Search GeneGlobe Interaction Network for SASS6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for SASS6 (Q6UVJ01, 2, 3 ENSP000002874824) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STILQ154681, 2EBI-1570153,EBI-7488405 MINT-8389200 MINT-8389015 MINT-8389213 MINT-8389027 MINT-8389227
    CENPJQ9HC772, ENSP000003713084MINT-8389200 MINT-8389213 MINT-8389027 MINT-8389227 STRING: ENSP00000371308
    KEAP1Q141453, ENSP000001711114I2D: score=2 STRING: ENSP00000171111
    CETN3O151823, ENSP000002831224I2D: score=1 STRING: ENSP00000283122
    TP73O153503, ENSP000003675454I2D: score=1 STRING: ENSP00000367545
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007099centriole replication IMP16244668
    GO:0051298centrosome duplication IMP15665853

    SASS6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SASS6 (SAS6)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SASS6 gene: 
    NM_194292.1  

    Unigene Cluster for SASS6:

    Spindle assembly 6 homolog (C. elegans)
    Hs.591447  [show with all ESTs]
    Unigene Representative Sequence: BX641109
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000287482(uc001dsu.3 uc009wdz.3) ENST00000462159 ENST00000535161

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SASS6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SASS6 (see all 13):
    hsa-miR-498 hsa-miR-433 hsa-miR-623 hsa-miR-576-5p hsa-miR-125a-3p hsa-miR-4263 hsa-miR-764 hsa-miR-211
    SwitchGear 3'UTR luciferase reporter plasmidSASS6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SASS6
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SASS6
      QuantiTect SYBR Green Assays in human, mouse, rat SASS6
      QuantiFast Probe-based Assays in human, mouse, rat SASS6

    Additional mRNA sequence: 

    AK025750.1 AK302513.1 AK307824.1 AL834265.1 AY359522.1 BC054889.1 BC101026.3 BX641109.1 
    BX648406.1 

    3 DOTS entries:

    DT.101982248  DT.91657641  DT.101982247 

    Selected AceView cDNA sequences (see all 32):

    BF366552 CB117516 AK025750 AL834265 BF434958 NM_194292 BP430287 AY359522 
    AA639560 AA907721 CB151711 AI254732 BC054889 BX641109 BU603007 BM464035 
    AI888918 AA504218 BX648406 BM839677 BE733219 AW613133 AI439960 AW473121 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SASS6    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                                                                                                                                    
    SP2:                                                                                                                                    
    SP3:                          -     -                                                                                                   
    SP4:                          -     -     -                                                                                             
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for SASS6

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SASS6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SASS6 Expression
    About this image

    SASS6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SASS6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591447
        Custom PCR Arrays for SASS6
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SASS6 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sass61 , 5 spindle assembly 6 homolog (C. elegans)1, 5 83.87(n)1
    85.6(a)1
      3 (50.40 cM)5
    727761  NM_028349.21  NP_082625.21 
     1165950085 
    chicken
    (Gallus gallus)
    Aves SASS61 spindle assembly 6 homolog (C. elegans) 68.83(n)
    68.46(a)
      424471  NM_001031273.1  NP_001026444.1 
    lizard
    (Anolis carolinensis)
    Reptilia SASS66
    spindle assembly 6 homolog (C. elegans)
    67(a)
    1 ↔ 1
    4(87782312-87804592)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.61212 Xenopus laevis transcribed sequences 77.36(n)    BJ037221.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.25162 Danio rerio mRNA similar to RIKEN cDNA 2810453L12 gene more 73.74(n)    BC045420.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sas-66
    spindle assembly abnormal 6
    22(a)
    1 ↔ 1
    3R(25821079-25822760)


    ENSEMBL Gene Tree for SASS6 (if available)
    TreeFam Gene Tree for SASS6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SASS6 (see all 950)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1158547061,2
    C,F--100549486(+) TACAAT/CAAAGC 1 -- ut312Minor allele frequency- C:0.15WA NA 238
    rs741023401,2
    C,F--100549492(+) AAAGCT/CCCTTC 1 -- ut312Minor allele frequency- C:0.21WA 120
    rs741023411,2
    C,F--100549503(+) CAAAAT/CCACCA 1 -- ut312Minor allele frequency- C:0.08WA 120
    rs1893965161,2
    --100549600(+) GTGGGG/TGAGTA 1 -- ut310--------
    rs1818172451,2
    --100549642(+) AGATTA/CGATCC 1 -- ut310--------
    rs666616501,2
    C--100549725(+) AAGAT-/TTCT  
            
    TCTTT
    1 -- ut310--------
    rs792623021,2
    C--100549842(+) TACTTC/TATAAA 1 -- ut310--------
    rs1872993891,2
    --100549852(+) AAATTA/GATCTA 1 -- ut310--------
    rs1908470121,2
    --100549854(+) ATTGAC/TCTAGA 1 -- ut310--------
    rs1826090871,2
    --100549946(+) AAAAAA/TTTTTC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SASS6 (100549100 - 100598511 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SASS6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2121CNV Insertion18451855
    esv270253CNV Insertion20981092
    esv274322CNV Insertion20981092
    esv1008570CNV Gain20482838
    nsv830804CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SASS6
    DNA2.0 Custom Variant and Variant Library Synthesis for SASS6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609321    OMIM disorders: --

    2 diseases for SASS6:    
    About MalaCards
    bullous pemphigoid    microcephaly


    SASS6 for disorders           About GeneDecksing


    Export disorders for SASS6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SASS6 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with SASS6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SAS-6 defines a protein family required for centrosome duplication in C. elegans and in human cells. (PubMed id 15665853)1, 2, 3 Leidel S.... Goenczy P. (Nat. Cell Biol. 2005)
    2. Proteomic characterization of the human centrosome by protein correlation profiling. (PubMed id 14654843)1, 2, 3 Andersen J.S....Mann M. (Nature 2003)
    3. The SCF-FBXW5 E3-ubiquitin ligase is regulated by PLK4 and targets HsSAS-6 to control centrosome duplication. (PubMed id 21725316)1, 2 Puklowski A....Malek N.P. (Nat. Cell Biol. 2011)
    4. Plk4-induced centriole biogenesis in human cells. (PubMed id 17681131)1, 2 Kleylein-Sohn J.... Nigg E.A. (Dev. Cell 2007)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. The Polo kinase Plk4 functions in centriole duplication. (PubMed id 16244668)1, 2 Habedanck R.... Nigg E.A. (Nat. Cell Biol. 2005)
    7. Centriole assembly requires both centriolar and pericentriolar material proteins. (PubMed id 15572125)1, 2 Dammermann A.... Oegema K. (Dev. Cell 2004)
    8. Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly. (PubMed id 23511974)1 Lin Y.C....Tang T.K. (EMBO J. 2013)
    9. Cell-cycle-regulated expression of STIL controls centriole number in human cells. (PubMed id 22349698)1 Arquint C....Nigg E.A. (J. Cell. Sci. 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 163786 HGNC: 25403 AceView: DKFZp761A078 Ensembl:ENSG00000156876 euGenes: HUgn163786
    ECgene: SASS6 H-InvDB: SASS6

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SASS6 Pharmacogenomics, SNPs, Pathways

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    Patent Information for SASS6 gene:
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