SASS6 (SAS-6 centriolar assembly protein)

2016-04-01  

Identity

HGNC
SASS6
LOCATION
1p21.2
LOCUSID
163786
ALIAS
MCPH14,SAS-6,SAS6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 163786
MIM: 609321
HGNC: 25403
Ensembl: ENSG00000156876

Variants:

dbSNP: 163786
ClinVar: 163786
TCGA: ENSG00000156876
COSMIC: SASS6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156876ENST00000287482Q6UVJ0

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
156658532005SAS-6 defines a protein family required for centrosome duplication in C. elegans and in human cells.167
176811322007Regulated HsSAS-6 levels ensure formation of a single procentriole per centriole during the centrosome duplication cycle.144
195030752009CPAP is a cell-cycle regulated protein that controls centriole length.122
220201242011The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation.100
223496982012Cell-cycle-regulated expression of STIL controls centriole number in human cells.74
235119742013Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly.69
217253162011The SCF-FBXW5 E3-ubiquitin ligase is regulated by PLK4 and targets HsSAS-6 to control centrosome duplication.60
279117072016The PLK4-STIL-SAS-6 module at the core of centriole duplication.40
245901722014Mechanisms of HsSAS-6 assembly promoting centriole formation in human cells.23
269997362016SAS-6 engineering reveals interdependence between cartwheel and microtubules in determining centriole architecture.20

Citation

Dessen P

SASS6 (SAS-6 centriolar assembly protein)

Atlas Genet Cytogenet Oncol Haematol. 2016-04-01

Online version: http://atlasgeneticsoncology.org/gene/55711/sass6