SASS6 (SAS-6 centriolar assembly protein)

Gene Basic Information

Gene Basic Information

symbol:
SASS6
locus group:
protein-coding gene
location:
1p21.2
gene_family:
alias symbol:
DKFZp761A078|SAS-6|FLJ22097|SAS6
alias name:
None
entrez id:
163786
ensembl gene id:
ENSG00000156876
ucsc gene id:
uc001dsu.4
refseq accession:
NM_194292
hgnc_id:
HGNC:25403
approved reserved:
2005-10-13

Chromosome Location

Chromosome Location

1p21.2

Gene Summary

Gene Summary

SASS6（Spindle Assembly Abnormal Protein 6）是一种在细胞分裂过程中起关键作用的基因，主要参与中心体的形成和纺锤体的组装。其表达产物是一种中心体蛋白，通过与CEP152等其他蛋白相互作用，确保中心体的正确复制和纺锤体的正常组装，从而维持细胞分裂的精确性。SASS6在胚胎发育和神经系统的形成中尤为重要，其功能异常可能导致严重的发育缺陷。该基因属于SAS（Spindle Assembly Abnormal）基因家族，该家族成员普遍参与细胞分裂过程中的纺锤体组装和染色体分离，共同特点是调控细胞周期和有丝分裂的准确性。SASS6突变可能导致中心体复制异常，进而引发纺锤体缺陷、染色体错误分离和非整倍体，与多种疾病相关，如小头畸形（原发性小头畸形5型）和某些癌症。SASS6过表达可能导致中心体过度复制，引发基因组不稳定和肿瘤发生；而降低表达则可能导致中心体复制失败，造成细胞分裂停滞或异常，影响胚胎发育或导致神经发育障碍。研究表明，SASS6功能异常还与不孕不育和某些神经系统疾病有关。该基因的调控异常可能影响其他细胞周期相关基因（如PLK4、CEP63）的表达或功能，进一步破坏细胞分裂的协调性。

ChineseEnglish

SAS6 is necessary for centrosome duplication and functions during procentriole formation; SAS6 functions to ensure that each centriole seeds the formation of a single procentriole per cell cycle Strnad et al., (2007) [PubMed 17681132].[supplied by OMIM, Mar 2008]

OMIM entry for SASS6     Wikipedia entry for SASS6

Gene Sequence

Gene Sequence

Nucleotide sequence of SASS6:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MSQVLFHQLV PLQVKCKDCE ERRVSIRMSI ELQSVSNPVH
41RKDLVIRLTD DTDPFFLYNL VISEEDFQSL KFQQGLLVDF
81 LAFPQKFID LLQQCTQEHA KEIPRFLLQL VSPAAILDNS
121PAFLNVVETN PFKHLTHLSL KLLPGNDVEI KKFLAGCLKC
161S KEEKLSLM QSLDDATKQL DFTRKTLAEK KQELDKLRNE
201WASHTAALTN KHSQELTNEK EKALQAQVQY QQQHEQQKKD
241LE ILHQQNI HQLQNRLSEL EAANKDLTER KYKGDSTIRE
281LKAKLSGVEE ELQRTKQEVL SLRRENSTLD VECHEKEKHV
321NQL QTKVAV LEQEIKDKDQ LVLRTKEAFD TIQEQKVVLE
361ENGEKNQVQL GKLEATIKSL SAELLKANEI IKKLQGDLKT
401LMGK LKLKN TVTIQQEKLL AEKEEKLQKE QKELQDVGQS
441LRIKEQEVCK LQEQLEATVK KLEESKQLLK NNEKLITWLN
481KELNE NQLV RKQDVLGPST TPPAHSSSNT IRSGISPNLN
521VVDGRLTYPT CGIGYPVSSA FAFQNTFPHS ISAKNTSHPG
561SGTKVQ FNL QFTKPNASLG DVQSGATISM PCSTDKENGE
601NVGLESKYLK KREDSIPLRG LSQNLFSNSD HQRDGTLGAL
641HTSSKPT AL PSASSAYFPG QLPNS
结构预测来自 AlphaFold DB（UniProt: Q6UVJ0），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of SASS6:           Showing partial SNPs
rs28691220       rs41298529       rs74102339       rs111772088       rs111983510       rs144282003       rs367669153       rs531156298       rs533188728       rs542055368       rs546942869       rs550995752       rs556898050       rs564761412       rs471352       rs472498       rs473759      

Gene Expression

Gene Expression

Tissue expression of SASS6:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
CTAACCTGAATGTGGTTGATGG
59
GGAATGCAAATGCAGAGGA
59
CTAACCTGAATGTGGTTGATGG
59
GGAATGCAAATGCAGAGGA
59
TTGAAGAGGAGCTACAGCG
60
CGTGGCATTCAACATCTAGTG
60
TTGAAGAGGAGCTACAGCG
60
CGTGGCATTCAACATCTAGTG
60
ACCTGAATGTGGTTGATGGT
60
TCTGGAATGCAAATGCAGAG
59
ACCTGAATGTGGTTGATGGT
60
TCTGGAATGCAAATGCAGAG
59

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of SASS6 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for SASS6:

GO ID
Protein
Source DB
GO:0005515
Q6UVJ0 (UniProtKB)
IPI
GO:0005515
Q6UVJ0 (UniProtKB)
IPI
GO:0005515
Q6UVJ0 (UniProtKB)
IPI
GO:0005515
Q6UVJ0 (UniProtKB)
IPI
GO:0005813
Q6UVJ0 (UniProtKB)
NAS
GO:0005813
Q6UVJ0 (UniProtKB)
IDA
GO:0005813
Q6UVJ0 (UniProtKB)
IDA
GO:0005813
Q6UVJ0 (UniProtKB)
IDA
GO:0005814
Q6UVJ0 (UniProtKB)
IDA
GO:0005814
Q6UVJ0 (UniProtKB)
IDA
GO:0005814
Q6UVJ0 (UniProtKB)
IDA
GO:0007099
Q6UVJ0 (UniProtKB)
IMP
GO:0007099
Q6UVJ0 (UniProtKB)
IMP
GO:0051298
Q6UVJ0 (UniProtKB)
IMP
GO:0098536
Q6UVJ0 (UniProtKB)
ISS
GO:0098536
Q6UVJ0 (UniProtKB)
ISS

Related microRNA

Related microRNA

microRNAs potentially regulating SASS6:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Primary microcephaly 0.000271442 1 0 BeFree
Autosomal Recessive Primary Microcephaly 0.000271442 1 0 BeFree

Related Publications

Related Publications

CDT1 induces the formation of polyploid giant cancer cells and promotes centrosome amplification through the PLK4/SASS6 axis.
Pan R, Song S, Zhang M, Jiang Y, Zhao M, Li Y, Yang X, Li J, Liu N, Shang Y, Xie Y, Chen H, Wang R, Liu J, Wang B, Song Z, Li J, Liu P Cancer Lett IF: 11.8 2026-02-28
SASS6 overexpression is associated with mitotic chromosomal abnormalities and a poor prognosis in patients with colorectal cancer.
Shinmura Kazuya, Kato Hisami, Kawanishi Yuichi, Nagura Kiyoko, Kamo Takaharu, Okubo Yusuke, Inoue Yusuke, Kurabe Nobuya, Du Chunping, Iwaizumi Moriya, Kurachi Kiyotaka, Nakamura Toshio, Sugimura Haruhiko Oncol Rep IF: 4.7 2016-03-23
CEP120 and SPICE1 cooperate with CPAP in centriole elongation.
Comartin David, Gupta Gagan D, Fussner Eden, Coyaud Étienne, Hasegan Monica, Archinti Marco, Cheung Sally W T, Pinchev Deborah, Lawo Steffen, Raught Brian, Bazett-Jones David P, Lüders Jens, Pelletier Laurence Curr Biol IF: 7.7 2014-03-14

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