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Aliases for SASS6 Gene

Aliases for SASS6 Gene

  • Spindle Assembly 6 Homolog (C. Elegans) 2 3
  • SAS6 3 4 6
  • HsSAS-6 3 4
  • Spindle Assembly Abnormal Protein 6 Homolog 3
  • SAS-6 3

External Ids for SASS6 Gene

Summaries for SASS6 Gene

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 microcephaly, primary autosomal recessive.

UniProtKB/Swiss-Prot for SASS6 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SASS6 Gene

Genomics for SASS6 Gene

Genomic Location for SASS6 Gene

Start:
100,083,544 bp from pter
End:
100,132,955 bp from pter
Size:
49,412 bases
Orientation:
Minus strand

Genomic View for SASS6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SASS6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SASS6 Gene

Regulatory Elements for SASS6 Gene

Proteins for SASS6 Gene

  • Protein details for SASS6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UVJ0-SAS6_HUMAN
    Recommended name:
    Spindle assembly abnormal protein 6 homolog
    Protein Accession:
    Q6UVJ0
    Secondary Accessions:
    • D3DT55
    • Q8N3K0

    Protein attributes for SASS6 Gene

    Size:
    657 amino acids
    Molecular mass:
    74397 Da
    Quaternary structure:
    • 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.

neXtProt entry for SASS6 Gene

Proteomics data for SASS6 Gene at MOPED

Post-translational modifications for SASS6 Gene

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

Other Protein References for SASS6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SASS6 Gene

Domains for SASS6 Gene

Protein Domains for SASS6 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

SAS6_HUMAN
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.:
    • Q6UVJ0
  • Contains 1 PISA domain.:
    • Q6UVJ0
genes like me logo Genes that share domains with SASS6: view

No data available for Gene Families for SASS6 Gene

Function for SASS6 Gene

Molecular function for SASS6 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for SASS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21725316
genes like me logo Genes that share ontologies with SASS6: view

Phenotypes for SASS6 Gene

GenomeRNAi human phenotypes for SASS6:
genes like me logo Genes that share phenotypes with SASS6: view

miRNA for SASS6 Gene

miRTarBase miRNAs that target SASS6

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SASS6 Gene

Localization for SASS6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SASS6 Gene

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. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SASS6 Gene COMPARTMENTS Subcellular localization image for SASS6 gene
Compartment Confidence
cytoskeleton 5
cytosol 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SASS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome NAS 14654843
GO:0005814 centriole IDA 17681131
GO:0098536 deuterosome ISS --
genes like me logo Genes that share ontologies with SASS6: view

Pathways for SASS6 Gene

SuperPathways for SASS6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SASS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007099 centriole replication IMP 16244668
GO:0051298 centrosome duplication IMP 15665853
genes like me logo Genes that share ontologies with SASS6: view

No data available for Pathways by source for SASS6 Gene

Transcripts for SASS6 Gene

mRNA/cDNA for SASS6 Gene

Unigene Clusters for SASS6 Gene

Spindle assembly 6 homolog (C. elegans):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SASS6 Gene

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:

Relevant External Links for SASS6 Gene

GeneLoc Exon Structure for
SASS6
ECgene alternative splicing isoforms for
SASS6

Expression for SASS6 Gene

mRNA expression in normal human tissues for SASS6 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SASS6 Gene

SOURCE GeneReport for Unigene cluster for SASS6 Gene Hs.591447

genes like me logo Genes that share expressions with SASS6: view

Orthologs for SASS6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SASS6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SASS6 36
  • 99.8 (n)
  • 99.85 (a)
SASS6 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SASS6 36
  • 91.12 (n)
  • 92.24 (a)
SASS6 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SASS6 36
  • 91.48 (n)
  • 91.48 (a)
SASS6 37
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sass6 36
  • 83.87 (n)
  • 85.6 (a)
Sass6 16
Sass6 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SASS6 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SASS6 37
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sass6 36
  • 84.79 (n)
  • 88.37 (a)
chicken
(Gallus gallus)
Aves SASS6 36
  • 68.83 (n)
  • 68.46 (a)
SASS6 37
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SASS6 37
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6121 36
tropical clawed frog
(Silurana tropicalis)
Amphibia sass6 36
  • 59.57 (n)
  • 55.8 (a)
Str.4267 36
zebrafish
(Danio rerio)
Actinopterygii Dr.2516 36
sass6 36
  • 61.54 (n)
  • 58.9 (a)
sass6 37
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sas-6 37
  • 22 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2205 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 44 (a)
OneToOne
Species with no ortholog for SASS6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SASS6 Gene

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

Paralogs for SASS6 Gene

No data available for Paralogs for SASS6 Gene

Variants for SASS6 Gene

Sequence variations from dbSNP and Humsavar for SASS6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs471352 -- 100,099,194(-) TCTTG(A/G)TAGTG intron-variant
rs473759 -- 100,091,726(-) ttact(C/G)ttttc intron-variant
rs482873 -- 100,124,201(+) CTACT(C/T)TGGAA intron-variant
rs500774 -- 100,091,095(-) acttc(G/T)ggcct intron-variant
rs500814 -- 100,093,487(-) cacca(C/T)gccca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SASS6 Gene

Variant ID Type Subtype PubMed ID
nsv830804 CNV Gain 17160897
esv274322 CNV Insertion 20981092
esv270253 CNV Insertion 20981092
esv1008570 CNV Gain 20482838
nsv2121 CNV Insertion 18451855

Relevant External Links for SASS6 Gene

HapMap Linkage Disequilibrium report
SASS6
Human Gene Mutation Database (HGMD)
SASS6

Disorders for SASS6 Gene

genes like me logo Genes that share disorders with SASS6: view

No data available for UniProtKB/Swiss-Prot for SASS6 Gene

Publications for SASS6 Gene

  1. SAS-6 defines a protein family required for centrosome duplication in C. elegans and in human cells. (PMID: 15665853) Leidel S. … Goenczy P. (Nat. Cell Biol. 2005) 2 3 4
  2. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3 4
  3. Centriole assembly requires both centriolar and pericentriolar material proteins. (PMID: 15572125) Dammermann A. … Oegema K. (Dev. Cell 2004) 3 4
  4. The Polo kinase Plk4 functions in centriole duplication. (PMID: 16244668) Habedanck R. … Nigg E.A. (Nat. Cell Biol. 2005) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for SASS6 Gene

  • Addgene plasmids for SASS6

Sources for SASS6 Gene

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