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

Summary

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: SAS-6; 2810453L12Rik
Summary: Predicted to be involved in centriole replication; positive regulation of cell cycle process; and spermatogenesis. Located in centriole and deuterosome. Is expressed in brain ventricular layer; cerebral cortex subventricular zone; 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, Nov 2024]
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

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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
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 centriole replication	ISS Inferred from Sequence or Structural Similarity 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
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
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 centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISO Inferred from Sequence Orthology 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; 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.

mRNA and Protein(s)

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
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
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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

116388577..116424816

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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