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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SASS6 Gene

protein-coding   GIFtS: 44
GCID: GC01M100549

spindle assembly 6 homolog (C. elegans)

 Explore 3 diseases affiliated with
SASS6 via our new
 Human Malady Compendium 
Biological research products
for SASS6
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Spindle Assembly 6 Homolog (C. Elegans)1 2     FLJ220971
SAS61 2 3 5     HsSAS-63
SAS-61 2     Spindle Assembly Abnormal Protein 6 Homolog2
DKFZp761A0781     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SASS6:
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)

UniProtKB/Swiss-Prot: SAS6_HUMAN, Q6UVJ0
Function: Required for centrosome duplication. Overexpression results in excess foci-bearing centriolar markers

Gene Wiki entry for SASS6


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SASS6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SAS6_HUMAN, Q6UVJ0 (See protein sequence)
Recommended Name: Spindle assembly abnormal protein 6 homolog  
Size: 657 amino acids; 74397 Da
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
Secondary accessions: D3DT55 Q8N3K0

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

Post-translational modifications:

  • Ubiquitinated by the SCF(FBXW5) E3 ubiquitin-protein ligase complex during S phase, leading to its degradation and
  • preventing centriole reduplication1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6UVJ0

  • SASS6 Protein expression data from MOPED and PaxDb:    About this image 
    SASS6 Protein Expression
    REFSEQ proteins: NP_919268.1  
    ENSEMBL proteins: 
     ENSP00000287482   ENSP00000440169  

    Human Recombinant Protein Products for SASS6: 
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    Uscn Proteins for SASS6

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome NAS14654843
    GO:0005814centriole IDA17681131

    SASS6 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q6UVJ0

    UniProtKB/Swiss-Prot: SAS6_HUMAN, Q6UVJ0
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SAS6_HUMAN, Q6UVJ0
    Function: Required for centrosome duplication. Overexpression results in excess foci-bearing centriolar markers

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    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 - Customizable classic, inducible, and humanized mouse model solutions for SASS6 

    miRNA
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    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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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SASS6

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

    5/9 Interacting proteins for SASS6 (Q6UVJ02, 3 ENSP000002874824) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STILQ154682MINT-8389200 MINT-8389015 MINT-8389213 MINT-8389027 MINT-8389227
    CENPJQ9HC772MINT-8389200 MINT-8389213 MINT-8389027 MINT-8389227
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007099centriole replication IMP17681131
    GO:0051298centrosome duplication IMP15665853

    SASS6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SASS6
    Search CenterWatch for drugs/clinical trials and news about SASS6 / SAS6 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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
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    Inhib. RNA
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    Additional cDNA 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 

    24/32 AceView cDNA sequences (see all 32):

    AL834265 AK025750 NM_194292 AA639560 AI254732 BP430287 BF366552 CB151711 
    BC054889 AY359522 CB117516 AA907721 BF434958 AI567863 AW473121 BE733219 
    AI439960 AI888918 AA504218 BX641109 BM464035 BU603007 BG250613 BM839677 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SASS6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    SASS6 Expression
    About this image
    See SASS6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SASS6

    SOURCE GeneReport for Unigene cluster: Hs.591447
        SABiosciences Custom PCR Arrays for SASS6

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SASS6 gene from 6/22 species (see all 22)    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) 69.15(n)
    68.46(a)
      424471  NM_001031273.1  NP_001026444.1 
    lizard
    (Anolis carolinensis)
    Reptilia SASS66
    --
    67(a)
    1 ↔ 1
    4(87782468-87804592)
    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-61 spindle assembly abnormal 6 38.34(n)
    25.62(a)
      43555  NM_143499.2  NP_651756.1 


    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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/751 NCBI SNPs in SASS6 are shown (see all 751    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1158547061,2
    F--100549486(+) TACAAT/CAAAGC 1 -- ut312Minor allele frequency- C:0.15WA NA 238
    rs741023401,2
    C--100549492(+) AAAGCT/CCCTTC 1 -- ut312Minor allele frequency- C:0.21WA 120
    rs741023411,2
    C--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--------
    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--------
    rs66571521,2
    H--100550063(+) GTTCTG/CATACT 1 -- ut31 ese34Minor allele frequency- C:0.00NS EA 416

    HapMap Linkage Disequilibrium report for SASS6 (100549100 - 100598511 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SASS6: --

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    (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.)
    About This Section

    SASS6 for disorders           About GeneDecksing

    OMIM gene information: 609321    OMIM disorders: --

    3 diseases for SASS6:    About MalaCards
    bullous pemphigoid    microcephaly    malaria


    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)
    About This Section

    PubMed articles for SASS6 gene, integrated from 9 sources (see all 24):
    (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. (2005)
    2. Proteomic characterization of the human centrosome by protein correlation profiling. (PubMed id 14654843)1, 2, 3 Andersen J.S....Mann M. (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. (2011)
    4. Plk4-induced centriole biogenesis in human cells. (PubMed id 17681131)1, 2 Kleylein-Sohn J.... Nigg E.A. (2007)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    6. The Polo kinase Plk4 functions in centriole duplication. (PubMed id 16244668)1, 2 Habedanck R.... Nigg E.A. (2005)
    7. Centriole assembly requires both centriolar and pericentriolar material proteins. (PubMed id 15572125)1, 2 Dammermann A.... Oegema K. (2004)
    8. Cell-cycle-regulated expression of STIL controls centr iole number in human cells. (PubMed id 22349698)1 Arquint C....Nigg E.A. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 163786 HGNC: 25403 AceView: DKFZp761A078 Ensembl:ENSG00000156876 euGenes: HUgn163786
    ECgene: SASS6 H-InvDB: SASS6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SASS6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SASS6 gene:
    Search GeneIP for patents involving SASS6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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