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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

Additional gene information 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
GH01H100348 1.7 FANTOM5 ENCODE dbSUPER 39.5 -219.1 -219139 7 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 MFSD14A BRI3P1 SLC30A7 SASS6 CDC14A TRMT13 HNRNPA1P68 ENSG00000235795 LOC646970 ENSG00000226952
GH01H100046 1.4 FANTOM5 Ensembl ENCODE 25.9 +84.6 84646 4 HDAC1 PKNOX1 FOXA2 ZNF133 TCF12 POLR3A ATF7 RUNX3 IKZF2 ZNF202 SASS6 LRRC39 HNRNPA1P68 TRMT13 RTCA FRRS1 MFSD14A ENSG00000241073
GH01H100036 1.3 ENCODE dbSUPER 21.8 +94.4 94369 4 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 SP3 SP5 ZHX2 MFSD14A SASS6 LRRC39 TRMT13 SLC30A7 BRI3P1 RTCA AGL ENSG00000241073
GH01H099969 1.2 ENCODE 21.9 +162.6 162620 2 HDGF FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 SASS6 ENSG00000227034 MFSD14A TRMT13 HNRNPA1P68 RTCA BRI3P1 SLC30A7 SLC35A3 GPR88
GH01H099848 1.4 Ensembl ENCODE 13.5 +282.6 282591 4 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 ZNF143 SASS6 AGL GC01P099965
- 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 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207

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 (PubMed:21725316). Forms a complex with CENPJ and STIL (PubMed:22020124). Interacts with NUP62 and TUBG1 at the centrosome (PubMed:24107630).

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

Gene Families for SASS6 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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
  • Applied Biological Materials Clones for SASS6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SASS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome NAS,IEA 14654843
GO:0005814 centriole IDA 17681131
GO:0005815 microtubule organizing center IDA,IEA --
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

Drugs & Compounds for SASS6 Gene

No Compound Related Data Available

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
  • Applied Biological Materials Clones for SASS6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 33 34
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia SASS6 33 34
  • 91.48 (n)
cow
(Bos Taurus)
Mammalia SASS6 33 34
  • 91.12 (n)
rat
(Rattus norvegicus)
Mammalia Sass6 33
  • 84.79 (n)
mouse
(Mus musculus)
Mammalia Sass6 33 16 34
  • 83.87 (n)
oppossum
(Monodelphis domestica)
Mammalia SASS6 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SASS6 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SASS6 33 34
  • 68.83 (n)
lizard
(Anolis carolinensis)
Reptilia SASS6 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sass6 33
  • 59.57 (n)
Str.4267 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6121 33
zebrafish
(Danio rerio)
Actinopterygii sass6 33 34
  • 61.54 (n)
Dr.2516 33
fruit fly
(Drosophila melanogaster)
Insecta sas-6 34
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2205 33
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
rs876661307 Pathogenic, Microcephaly 14, primary, autosomal recessive (MCPH14) [MIM:616402] 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
rs1000336363 -- 100,104,382(+) CTAGG(G/T)AAGCT intron-variant

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: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

- 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 … Gönczy P (Nature cell biology 2005) 2 3 4 60
  2. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen JS … Mann M (Nature 2003) 2 3 4 60
  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 MA … Windpassinger C (Human molecular genetics 2014) 3 4 60
  4. Nucleoporin Nup62 maintains centrosome homeostasis. (PMID: 24107630) Hashizume C … Wong RW (Cell cycle (Georgetown, Tex.) 2013) 3 4 60
  5. The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation. (PMID: 22020124) Tang CJ … Tang TK (The EMBO journal 2011) 3 4 60

Products for SASS6 Gene

  • Addgene plasmids for SASS6

Sources for SASS6 Gene

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