Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SASS6 Gene

Aliases for SASS6 Gene

  • SAS-6 Centriolar Assembly Protein 2 3 5
  • SAS6 3 4
  • Spindle Assembly Abnormal Protein 6 Homolog 3
  • Spindle Assembly 6 Homolog (C. Elegans) 2
  • HsSAS-6 4
  • MCPH14 3
  • SAS-6 3

External Ids for SASS6 Gene

Previous GeneCards Identifiers for SASS6 Gene

  • GC01M100263
  • GC01M100549
  • GC01M098671

Summaries for SASS6 Gene

Entrez Gene Summary for SASS6 Gene

  • 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]

GeneCards Summary for SASS6 Gene

SASS6 (SAS-6 Centriolar Assembly Protein) is a Protein Coding gene. Diseases associated with SASS6 include Microcephaly 14, Primary, Autosomal Recessive and Autosomal Recessive Primary Microcephaly.

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. Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification (PubMed:22020124).

Gene Wiki entry for SASS6 Gene

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

Genomics for SASS6 Gene

Regulatory Elements for SASS6 Gene

Enhancers for SASS6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G100707 1 ENCODE dbSUPER 32.1 -576.0 -575991 2.3 ZFP64 ZNF140 SIN3A ZNF266 ZNF101 ZNF697 ZNF354C ZNF680 ZBTB11 BHLHE40 SASS6 TRMT13 MFSD14A HNRNPA1P68 EXTL2 SLC30A7 BRI3P1 GPR88 VCAM1 PIR61471
GH01G099969 1.2 ENCODE 21.9 +162.6 162620 2.9 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 SASS6 HNRNPA1P68 TRMT13 RTCA SLC30A7 ENSG00000227034 SLC35A3 GPR88 ENSG00000283761 RNU6-750P
GH01G100046 1.6 FANTOM5 Ensembl ENCODE 11.8 +84.6 84646 4.5 PKNOX1 FOXA2 WRNIP1 ZNF133 ARID4B YY1 TCF12 ELK1 ZNF202 SP5 LRRC39 RTCA SASS6 FRRS1 MFSD14A ENSG00000241073
GH01G100348 1.7 FANTOM5 ENCODE dbSUPER 10.9 -219.1 -219139 7.1 CREB3L1 AGO1 FEZF1 DMAP1 YBX1 YY1 ZNF143 ZNF263 SP3 NFYC CDC14A MFSD14A SLC30A7 BRI3P1 ENSG00000235795 HNRNPA1P68 SASS6 TRMT13 RTCA VCAM1
GH01G100036 1.4 ENCODE dbSUPER 11.8 +94.4 94369 4.1 FOXA2 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 MFSD14A LRRC39 SLC30A7 SASS6 BRI3P1 RTCA AGL ENSG00000241073
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SASS6 on UCSC Golden Path with GeneCards custom track

Promoters for SASS6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000010615 -5 2201 CREB3L1 DMAP1 YY1 ZNF143 SP3 MEF2D ZNF610 GLIS1 NBN NR2C1

Genomic Location for SASS6 Gene

Chromosome:
1
Start:
100,083,544 bp from pter
End:
100,133,095 bp from pter
Size:
49,552 bases
Orientation:
Minus strand

Genomic View for SASS6 Gene

Genes around SASS6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SASS6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SASS6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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). Interacts with FBXW5. Forms a complex with CENPJ and STIL (PubMed:22020124).

neXtProt entry for SASS6 Gene

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 & Families for SASS6 Gene

Protein Domains for SASS6 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6UVJ0

UniProtKB/Swiss-Prot:

SAS6_HUMAN :
  • 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.
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.
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. Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification (PubMed:22020124).

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

Human Phenotype Ontology for SASS6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for SASS6 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SASS6

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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 UniProtKB:Q80UK7}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SASS6 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SASS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome NAS 14654843
GO:0005814 centriole IDA 17681131
GO:0005815 microtubule organizing center IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SASS6: view

Pathways & Interactions 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:0007049 cell cycle IEA --
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 and SIGNOR curated interactions for SASS6 Gene

Transcripts for SASS6 Gene

Unigene Clusters for SASS6 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SASS6

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for SASS6 Gene

Protein differential expression in normal tissues from HIPED for SASS6 Gene

This gene is overexpressed in Esophagus (32.9), Plasma (20.4), and Urinary Bladder (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SASS6 Gene



NURSA nuclear receptor signaling pathways regulating expression of SASS6 Gene:

SASS6

SOURCE GeneReport for Unigene cluster for SASS6 Gene:

Hs.591447

Evidence on tissue expression from TISSUES for SASS6 Gene

  • Nervous system(4.1)
  • Blood(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SASS6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SASS6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SASS6 Gene

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 34 35
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia SASS6 34 35
  • 91.48 (n)
cow
(Bos Taurus)
Mammalia SASS6 34 35
  • 91.12 (n)
rat
(Rattus norvegicus)
Mammalia Sass6 34
  • 84.79 (n)
mouse
(Mus musculus)
Mammalia Sass6 34 16 35
  • 83.87 (n)
oppossum
(Monodelphis domestica)
Mammalia SASS6 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SASS6 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SASS6 34 35
  • 68.83 (n)
lizard
(Anolis carolinensis)
Reptilia SASS6 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sass6 34
  • 59.57 (n)
Str.4267 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6121 34
zebrafish
(Danio rerio)
Actinopterygii sass6 34 35
  • 61.54 (n)
Dr.2516 34
fruit fly
(Drosophila melanogaster)
Insecta sas-6 35
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2205 34
Species where no ortholog for SASS6 was found in the sources mined by GeneCards:
  • 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
VAR_073833 Microcephaly 14, primary, autosomal recessive (MCPH14) [MIM:616402]
rs876661307 Pathogenic 100,123,231(-) TGTTA(C/T)ATCTG intron-variant, reference, missense
rs1000064848 -- 100,115,720(+) CTACT(C/T)TGGAA intron-variant
rs1000169963 -- 100,100,281(+) GAATA(-/AATG)AATGA intron-variant
rs1000278459 -- 100,133,107(+) CCGAA(C/G)GAAGC upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv1008570 CNV gain 20482838
esv3305976 CNV mobile element insertion 20981092
esv3310050 CNV mobile element insertion 20981092
esv3414188 CNV insertion 20981092
nsv2121 CNV insertion 18451855
nsv546888 CNV loss 21841781
nsv830804 CNV gain 17160897

Variation tolerance for SASS6 Gene

Residual Variation Intolerance Score: 19.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.45; 90.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SASS6 Gene

Human Gene Mutation Database (HGMD)
SASS6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SASS6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SASS6 Gene

Disorders for SASS6 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SASS6 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly 14, primary, autosomal recessive
  • mcph14
autosomal recessive primary microcephaly
  • mcph
dental pulp necrosis
  • necrosis of the pulp
optic papillitis
  • papillitis
dental pulp disease
  • dental pulp disorder
- elite association - COSMIC cancer census association via MalaCards
Search SASS6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SAS6_HUMAN
  • Microcephaly 14, primary, autosomal recessive (MCPH14) [MIM:616402]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. {ECO:0000269 PubMed:24951542}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SASS6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SASS6
genes like me logo Genes that share disorders with SASS6: view

No data available for Genatlas 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 64
  2. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3 4 64
  3. A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. (PMID: 24951542) Khan M.A. … Windpassinger C. (Hum. Mol. Genet. 2014) 3 4 64
  4. The SCF-FBXW5 E3-ubiquitin ligase is regulated by PLK4 and targets HsSAS-6 to control centrosome duplication. (PMID: 21725316) Puklowski A. … Malek N.P. (Nat. Cell Biol. 2011) 3 4 64
  5. The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation. (PMID: 22020124) Tang C.J. … Tang T.K. (EMBO J. 2011) 3 4 64

Products for SASS6 Gene

Sources for SASS6 Gene

Content
Loading form....