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    SASS6 SAS-6 centriolar assembly protein [ Homo sapiens (human) ]

    Gene ID: 163786, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SASS6provided by HGNC
    Official Full Name
    SAS-6 centriolar assembly proteinprovided by HGNC
    Primary source
    HGNC:HGNC:25403
    See related
    Ensembl:ENSG00000156876 MIM:609321; AllianceGenome:HGNC:25403
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SAS6; SAS-6; MCPH14
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 6.8), testis (RPKM 6.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SASS6 in Genome Data Viewer
    Location:
    1p21.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (100083570..100132930, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (99931689..99981045, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100549126..100598486, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904230 Neighboring gene solute carrier family 35 member A3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:100471652-100472152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:100472153-100472653 Neighboring gene RNA, U6 small nuclear 1318, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:100503123-100503725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:100514024-100514739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1369 Neighboring gene major facilitator superfamily domain containing 14A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1372 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:100578889-100579078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1373 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:100598108-100598271 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:100598267-100598869 Neighboring gene Sharpr-MPRA regulatory region 13340 Neighboring gene tRNA methyltransferase 13 homolog Neighboring gene leucine rich repeat containing 39 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1376 Neighboring gene ribosomal protein L23a pseudogene 90 Neighboring gene dihydrolipoamide branched chain transacylase E2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. SASS6 promotes tumor proliferation and is associated with TP53 and immune infiltration in lung adenocarcinoma. Li Z, et al. Clin Exp Med, 2024 Oct 24. PMID 39443355, Free PMC Article
    2. SASS6 overexpression is associated with mitotic chromosomal abnormalities and a poor prognosis in patients with colorectal cancer. Shinmura K, et al. Oncol Rep, 2015 Aug. PMID 26035073
    3. A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Khan MA, et al. Hum Mol Genet, 2014 Nov 15. PMID 24951542
    4. Human SAS-6 C-Terminus Nucleates and Promotes Microtubule Assembly in Vitro by Binding to Microtubules. Gupta H, et al. Biochemistry, 2015 Oct 20. PMID 26422590
    5. Mechanisms of HsSAS-6 assembly promoting centriole formation in human cells. Keller D, et al. J Cell Biol, 2014 Mar 3. PMID 24590172, Free PMC Article

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction.
      Title: Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction.
    2. SASS6 promotes tumor proliferation and is associated with TP53 and immune infiltration in lung adenocarcinoma.
      Title: SASS6 promotes tumor proliferation and is associated with TP53 and immune infiltration in lung adenocarcinoma.
    3. Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations.
      Title: Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations.
    4. E2F4's cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6.
      Title: E2F4's cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6.
    5. Knockdown of SASS6 reduces growth of MDAMB231 triplenegative breast cancer cells through arrest of the cell cycle at the G2/M phase.
      Title: Knockdown of SASS6 reduces growth of MDA‑MB‑231 triple‑negative breast cancer cells through arrest of the cell cycle at the G2/M phase.
    6. SAS-6 Association with gamma-Tubulin Ring Complex Is Required for Centriole Duplication in Human Cells.
      Title: SAS-6 Association with γ-Tubulin Ring Complex Is Required for Centriole Duplication in Human Cells.
    7. SASS6 promotes proliferation of esophageal squamous carcinoma cells by inhibiting the p53 signaling pathway.
      Title: SASS6 promotes proliferation of esophageal squamous carcinoma cells by inhibiting the p53 signaling pathway.
    8. The ubiquitin ligase FBXW7 targets the centriolar assembly protein HsSAS-6 for degradation and thereby regulates centriole duplication.
      Title: The ubiquitin ligase FBXW7 targets the centriolar assembly protein HsSAS-6 for degradation and thereby regulates centriole duplication.
    9. CCDC84 Acetylation Oscillation Regulates Centrosome Duplication by Modulating HsSAS-6 Degradation.
      Title: CCDC84 Acetylation Oscillation Regulates Centrosome Duplication by Modulating HsSAS-6 Degradation.
    10. Expression regulation of PLK-4 and SAS-6 has a central role in centriole biogenesis. (Review)
      Title: Centriole assembly at a glance.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Microcephaly 14, primary, autosomal recessive
    MedGen: C4225338 OMIM: 616402 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22097, MGC119440

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centriole replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in centrosome duplication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of centriole replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of spindle assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of mitotic spindle organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in deuterosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of procentriole replication complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    spindle assembly abnormal protein 6 homolog
    Names
    spindle assembly defective protein 6

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051914.1 RefSeqGene

      Range
      5166..54526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001304829.2 → NP_001291758.1  spindle assembly abnormal protein 6 homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon at the 5' end compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (2) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AY359522, BC101026, DC400869
      UniProtKB/TrEMBL
      Q495U0
      Conserved Domains (1) summary
      COG1196
      Location:4 → 299
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    2. NM_194292.3 → NP_919268.1  spindle assembly abnormal protein 6 homolog isoform 1

      See identical proteins and their annotated locations for NP_919268.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AY359522
      Consensus CDS
      CCDS764.1
      UniProtKB/Swiss-Prot
      D3DT55, Q6UVJ0, Q8N3K0
      Related
      ENSP00000287482.5, ENST00000287482.6
      Conserved Domains (5) summary
      cd00187
      Location:360 → 480
      TOP4c; DNA Topoisomerase, subtype IIA; domain A'; bacterial DNA topoisomerase IV (C subunit, ParC), bacterial DNA gyrases (A subunit, GyrA),mammalian DNA toposiomerases II. DNA topoisomerases are essential enzymes that regulate the conformational changes in DNA ...
      pfam08172
      Location:445 → 545
      CASP_C; CASP C terminal
      pfam08537
      Location:249 → 357
      NBP1; Fungal Nap binding protein NBP1
      pfam15619
      Location:237 → 397
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      pfam16531
      Location:46 → 140
      SAS-6_N; Centriolar protein SAS N-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      100083570..100132930 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447889.1 → XP_047303845.1  spindle assembly abnormal protein 6 homolog isoform X2

    2. XM_017000486.2 → XP_016855975.1  spindle assembly abnormal protein 6 homolog isoform X1

      UniProtKB/TrEMBL
      B4DYM7
      Conserved Domains (5) summary
      cd00187
      Location:333 → 453
      TOP4c; DNA Topoisomerase, subtype IIA; domain A'; bacterial DNA topoisomerase IV (C subunit, ParC), bacterial DNA gyrases (A subunit, GyrA),mammalian DNA toposiomerases II. DNA topoisomerases are essential enzymes that regulate the conformational changes in DNA ...
      pfam08172
      Location:418 → 518
      CASP_C; CASP C terminal
      pfam08537
      Location:222 → 330
      NBP1; Fungal Nap binding protein NBP1
      pfam15619
      Location:210 → 370
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      pfam16531
      Location:19 → 113
      SAS-6_N; Centriolar protein SAS N-terminal

    3. XM_047447896.1 → XP_047303852.1  spindle assembly abnormal protein 6 homolog isoform X2

    4. XM_047447884.1 → XP_047303840.1  spindle assembly abnormal protein 6 homolog isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      99931689..99981045 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334752.1 → XP_054190727.1  spindle assembly abnormal protein 6 homolog isoform X2

    2. XM_054334750.1 → XP_054190725.1  spindle assembly abnormal protein 6 homolog isoform X1

      UniProtKB/TrEMBL
      B4DYM7

    3. XM_054334753.1 → XP_054190728.1  spindle assembly abnormal protein 6 homolog isoform X2

    4. XM_054334751.1 → XP_054190726.1  spindle assembly abnormal protein 6 homolog isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UVJ0.1 GenPept UniProtKB/Swiss-Prot:Q6UVJ0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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