SASS6 (SAS-6 centriolar assembly protein)

2016-04-01 Affiliation

Identity

HGNC

SASS6

LOCATION

1p21.2

LOCUSID

163786

ALIAS

MCPH14,SAS-6,SAS6

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000156876	ENST00000287482	Q6UVJ0

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
36739862	2023	Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations.	0
36739862	2023	Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations.	0
32671379	2021	SASS6 promotes proliferation of esophageal squamous carcinoma cells by inhibiting the p53 signaling pathway.	5
33907854	2021	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.	3
34260288	2021	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.	2
32671379	2021	SASS6 promotes proliferation of esophageal squamous carcinoma cells by inhibiting the p53 signaling pathway.	5
33907854	2021	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.	3
34260288	2021	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.	2
32086376	2020	The ubiquitin ligase FBXW7 targets the centriolar assembly protein HsSAS-6 for degradation and thereby regulates centriole duplication.	3
32442461	2020	SAS-6 Association with γ-Tubulin Ring Complex Is Required for Centriole Duplication in Human Cells.	5
32086376	2020	The ubiquitin ligase FBXW7 targets the centriolar assembly protein HsSAS-6 for degradation and thereby regulates centriole duplication.	3
32442461	2020	SAS-6 Association with γ-Tubulin Ring Complex Is Required for Centriole Duplication in Human Cells.	5
30639237	2019	Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly.	4
30787112	2019	Centriole assembly at a glance.	46
31722219	2019	CCDC84 Acetylation Oscillation Regulates Centrosome Duplication by Modulating HsSAS-6 Degradation.	7

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-(sas-6-centriolar-assembly-protein)