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Sass6 SAS-6 centriolar assembly protein [ Mus musculus (house mouse) ]

Gene ID: 72776, updated on 17-Mar-2024

Summary

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Official Symbol
Sass6provided by MGI
Official Full Name
SAS-6 centriolar assembly proteinprovided by MGI
Primary source
MGI:MGI:1920026
See related
Ensembl:ENSMUSG00000027959 AllianceGenome:MGI:1920026
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
2810453L12Rik
Summary
Predicted to be involved in centriole replication. Located in centriole and deuterosome. Is expressed in brain ventricular layer and retina. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 14. Orthologous to human SASS6 (SAS-6 centriolar assembly protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 4.7), CNS E11.5 (RPKM 4.0) and 18 other tissues See more
Orthologs
human all
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Genomic context

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Location:
3 G1; 3 50.4 cM
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (116388577..116424816)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (116594938..116630986)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene splicing factor, arginine/serine-rich pseudogene Neighboring gene leucine rich repeat containing 39 Neighboring gene STARR-seq mESC enhancer starr_08780 Neighboring gene tRNA methyltransferase 13 Neighboring gene STARR-positive B cell enhancer ABC_E1630 Neighboring gene STARR-seq mESC enhancer starr_08781 Neighboring gene STARR-seq mESC enhancer starr_08784 Neighboring gene major facilitator superfamily domain containing 14A Neighboring gene STARR-seq mESC enhancer starr_08785 Neighboring gene STARR-positive B cell enhancer ABC_E3464 Neighboring gene STARR-seq mESC enhancer starr_08789 Neighboring gene STARR-seq mESC enhancer starr_08790 Neighboring gene microRNA 3473h Neighboring gene solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3 Neighboring gene predicted gene, 40126

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Deuterosome-mediated centriole biogenesis. Klos Dehring DA, et al. Dev Cell, 2013 Oct 14. PMID 24075808, Free PMC Article
  2. The zebra fish cassiopeia mutant reveals that SIL is required for mitotic spindle organization. Pfaff KL, et al. Mol Cell Biol, 2007 Aug. PMID 17576815, Free PMC Article
  3. STIL is required for centriole duplication in human cells. Vulprecht J, et al. J Cell Sci, 2012 Mar 1. PMID 22349705
  4. Distinct dynein complexes defined by DYNLRB1 and DYNLRB2 regulate mitotic and male meiotic spindle bipolarity. He S, et al. Nat Commun, 2023 Mar 27. PMID 36973253, Free PMC Article
  5. The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly. Kobayashi T, et al. J Cell Biol, 2014 Jan 20. PMID 24421332, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mouse SAS-6 is required for centriole formation in embryos and integrity in embryonic stem cells.
    Title: Mouse SAS-6 is required for centriole formation in embryos and integrity in embryonic stem cells.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in centriole replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in centriole replication ISO
Inferred from Sequence Orthology
more info
  
involved_in centrosome duplication ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of G1/S transition of mitotic cell cycle ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of centriole replication ISO
Inferred from Sequence Orthology
more info
  
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 
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 
located_in centriole ISO
Inferred from Sequence Orthology
more info
 PubMed 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in deuterosome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of procentriole replication complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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

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.

mRNA and Protein(s)

  1. NM_001289568.1 → NP_001276497.1  spindle assembly abnormal protein 6 homolog isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate exon, that causes translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC131038, AK013338, AK165224, BB617231, BQ174648
    UniProtKB/TrEMBL
    Q3UM73
    Conserved Domains (2) summary
    cd00187
    Location:266 → 386
    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 ...
    pfam16531
    Location:6 → 46
    SAS-6_N; Centriolar protein SAS N-terminal

  2. NM_001289571.1 → NP_001276500.1  spindle assembly abnormal protein 6 homolog isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon, that causes translation initiation at a downstream start codon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC131038, AK013338, AK165224, BB617231, BQ174648
    Consensus CDS
    CCDS80008.1
    UniProtKB/TrEMBL
    A0A0G2JFC9, Q3UM73
    Related
    ENSMUSP00000143123.2, ENSMUST00000197335.2
    Conserved Domains (3) summary
    cd00187
    Location:325 → 445
    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 ...
    pfam16531
    Location:11 → 105
    SAS-6_N; Centriolar protein SAS N-terminal
    cl21455
    Location:21 → 313
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  3. NM_028349.3 → NP_082625.2  spindle assembly abnormal protein 6 homolog isoform 1

    See identical proteins and their annotated locations for NP_082625.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC131038, AK013338, AK165224, BB617231, BQ174648
    Consensus CDS
    CCDS17789.1
    UniProtKB/Swiss-Prot
    Q80UK7, Q9CYT4
    UniProtKB/TrEMBL
    Q3UM73
    Related
    ENSMUSP00000143233.2, ENSMUST00000198311.5
    Conserved Domains (3) 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 ...
    pfam16531
    Location:46 → 140
    SAS-6_N; Centriolar protein SAS N-terminal
    cl21455
    Location:56 → 348
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    116388577..116424816
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006502140.5 → XP_006502203.1  spindle assembly abnormal protein 6 homolog isoform X1

    UniProtKB/TrEMBL
    Q3UM73
    Conserved Domains (3) summary
    TIGR02168
    Location:167 → 483
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16531
    Location:46 → 141
    SAS-6_N; Centriolar protein SAS N-terminal
    pfam18594
    Location:146 → 171
    Sas6_CC; Sas6/XLF/XRCC4 coiled-coil domain

  2. XM_006502141.5 → XP_006502204.1  spindle assembly abnormal protein 6 homolog isoform X2

    UniProtKB/TrEMBL
    Q3UM73
    Conserved Domains (3) summary
    TIGR02168
    Location:167 → 483
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16531
    Location:46 → 141
    SAS-6_N; Centriolar protein SAS N-terminal
    pfam18594
    Location:146 → 171
    Sas6_CC; Sas6/XLF/XRCC4 coiled-coil domain

  3. XM_036163351.1 → XP_036019244.1  spindle assembly abnormal protein 6 homolog isoform X3

    UniProtKB/TrEMBL
    Q3UM73
    Related
    ENSMUSP00000143175.2, ENSMUST00000198386.5
    Conserved Domains (3) summary
    TIGR02168
    Location:165 → 450
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam18594
    Location:146 → 171
    Sas6_CC; Sas6/XLF/XRCC4 coiled-coil domain
    cd10142
    Location:4 → 144
    HD_SAS6_N; N-terminal head domain found in spindle assembly abnormal protein 6 and similar proteins
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80UK7.2 GenPept UniProtKB/Swiss-Prot:Q80UK7

Gene LinkOut

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