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Sass6 Gene Detail
Summary
  • Symbol
    Sass6
  • Name
    SAS-6 centriolar assembly protein
  • Synonyms
    2810453L12Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920026
    NCBI Gene: 72776
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:116388631-116424653 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 50.40 cM, cytoband G2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1312 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920026
 protein coding gene Chr3:116388577-116424816 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027814
 protein coding gene Chr3:118498330-118540808 (+)
A/J MGP_AJ_G0027772
 protein coding gene Chr3:114622611-114659775 (+)
AKR/J MGP_AKRJ_G0027738
 protein coding gene Chr3:117529318-117566595 (+)
BALB/cJ MGP_BALBcJ_G0027784
 protein coding gene Chr3:114465194-114501808 (+)
C3H/HeJ MGP_C3HHeJ_G0027515
 protein coding gene Chr3:117888705-117924420 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028230
 protein coding gene Chr3:122847832-122889373 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025569
 protein coding gene Chr3:110313791-110348721 (+)
CAST/EiJ MGP_CASTEiJ_G0026971
 protein coding gene Chr3:117173583-117210346 (+)
CBA/J MGP_CBAJ_G0027490
 protein coding gene Chr3:127042283-127080907 (+)
DBA/2J MGP_DBA2J_G0027631
 protein coding gene Chr3:113852561-113897545 (+)
FVB/NJ MGP_FVBNJ_G0027599
 protein coding gene Chr3:111496626-111534455 (+)
LP/J MGP_LPJ_G0027741
 protein coding gene Chr3:120041653-120082689 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027629
 protein coding gene Chr3:134426175-134466041 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028286
 protein coding gene Chr3:117055664-117101118 (+)
PWK/PhJ MGP_PWKPhJ_G0026697
 protein coding gene Chr3:113504552-113542422 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026519
 protein coding gene Chr3:115077086-115110838 (+)
WSB/EiJ MGP_WSBEiJ_G0027051
 protein coding gene Chr3:117748238-117784408 (+)



Homology
more
  • Human Ortholog
    SASS6, SAS-6 centriolar assembly protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SASS6, SAS-6 centriolar assembly protein
  • Synonyms
    MCPH14, SAS-6, SAS6
  • Links
    NCBI Gene ID: 163786
    neXtProt AC: NX_Q6UVJ0
    UniProt: Q6UVJ0

  • Chr Location
    1p21.2; chr1:100083563-100132955 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SASS6 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 1 allele in 1 genetic background
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    8
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    797
  • Tissues
    8
  • cDNA Data
    36
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027959 Ensembl Gene Model | MGI Sequence Detail 36023 C57BL/6J ±  kb
    transcript ENSMUST00000198311 Ensembl | MGI Sequence Detail 2404 Not Applicable  
    polypeptide ENSMUSP00000143233 Ensembl | MGI Sequence Detail 654 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000014465 spindle assembly abnormal protein 6
      (term hierarchy)
    • InterPro Domains
      IPR041513 SAS-6 coiled-coil domain
      IPR038558 SAS-6, N-terminal domain superfamily
      IPR032396 Spindle assembly abnormal protein 6, N-terminal
    • GlyGen
      Q80UK7 4 sites, 1 O-linked glycan (4 sites)
    Molecular
    Reagents
    less
    • All nucleic 36
      cDNA 36

      Microarray probesets 4
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 8
      Phenotypes 13
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:347621 Grzonka M, et al., Mouse SAS-6 is required for centriole formation in embryos and integrity in embryonic stem cells. Elife. 2024 Feb 26;13
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory