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Protein

Spindle assembly abnormal protein 6 homolog

Gene

SASS6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Central scaffolding component of the centrioles ensuring their 9-fold symmetry. Required for centrosome biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells. Overexpression results in excess foci-bearing centriolar markers. Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification (PubMed:22020124).4 Publications

GO - Biological processi

  • centriole replication Source: UniProtKB
  • centrosome duplication Source: UniProtKB

Keywordsi

Biological processCell cycle

Names & Taxonomyi

Protein namesi
Recommended name:
Spindle assembly abnormal protein 6 homolog
Short name:
HsSAS-6
Gene namesi
Name:SASS6
Synonyms:SAS6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000156876.9
HGNCiHGNC:25403 SASS6
MIMi609321 gene
neXtProtiNX_Q6UVJ0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Microcephaly 14, primary, autosomal recessive (MCPH14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
See also OMIM:616402
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07383362I → T in MCPH14; impairs the centriole-forming function of the protein. 1 PublicationCorresponds to variant dbSNP:rs876661307EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi131F → D: Fails to multimerize via N-terminus. 1 Publication1

Keywords - Diseasei

Disease mutation, Primary microcephaly

Organism-specific databases

DisGeNETi163786
MalaCardsiSASS6
MIMi616402 phenotype
OpenTargetsiENSG00000156876
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA142670950

Polymorphism and mutation databases

BioMutaiSASS6
DMDMi62511032

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001899721 – 657Spindle assembly abnormal protein 6 homologAdd BLAST657

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei510PhosphoserineCombined sources1
Modified residuei615PhosphoserineCombined sources1
Modified residuei657PhosphoserineCombined sources1

Post-translational modificationi

Ubiquitinated by the SCF(FBXW5) E3 ubiquitin-protein ligase complex during S phase, leading to its degradation and preventing centriole reduplication.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ6UVJ0
MaxQBiQ6UVJ0
PaxDbiQ6UVJ0
PeptideAtlasiQ6UVJ0
PRIDEiQ6UVJ0
ProteomicsDBi67430

PTM databases

iPTMnetiQ6UVJ0
PhosphoSitePlusiQ6UVJ0

Expressioni

Gene expression databases

BgeeiENSG00000156876 Expressed in 140 organ(s), highest expression level in oocyte
CleanExiHS_SASS6
GenevisibleiQ6UVJ0 HS

Organism-specific databases

HPAiHPA028187

Interactioni

Subunit structurei

Nine homodimers form a cartwheel structure with an internal diameter of 23 nM and radial spokes connecting to the microtubule triplets (By similarity). Interacts with FBXW5 (PubMed:21725316). Forms a complex with CENPJ and STIL (PubMed:22020124). Interacts with NUP62 and TUBG1 at the centrosome (PubMed:24107630).By similarity3 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi127880, 83 interactors
ComplexPortaliCPX-1159 CPAP-STIL complex
IntActiQ6UVJ0, 68 interactors
MINTiQ6UVJ0
STRINGi9606.ENSP00000287482

Structurei

3D structure databases

ProteinModelPortaliQ6UVJ0
SMRiQ6UVJ0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini39 – 91PISAAdd BLAST53

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili166 – 471Sequence analysisAdd BLAST306

Domaini

The 35 nM long coiled-coil domain mediates homodimerization while the globular N-terminus links the dimers at an angle of 40 degrees to form the inner ring.By similarity

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IF03 Eukaryota
ENOG410XQWJ LUCA
GeneTreeiENSGT00390000006932
HOGENOMiHOG000124668
HOVERGENiHBG079167
InParanoidiQ6UVJ0
KOiK16487
OMAiPSAYFPK
OrthoDBiEOG091G09W4
PhylomeDBiQ6UVJ0
TreeFamiTF326199

Family and domain databases

Gene3Di2.170.210.20, 1 hit
InterProiView protein in InterPro
IPR032396 SAS-6_N
IPR038558 SAS-6_N_sf
PfamiView protein in Pfam
PF16531 SAS-6_N, 1 hit

Sequencei

Sequence statusi: Complete.

Q6UVJ0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSQVLFHQLV PLQVKCKDCE ERRVSIRMSI ELQSVSNPVH RKDLVIRLTD
60 70 80 90 100
DTDPFFLYNL VISEEDFQSL KFQQGLLVDF LAFPQKFIDL LQQCTQEHAK
110 120 130 140 150
EIPRFLLQLV SPAAILDNSP AFLNVVETNP FKHLTHLSLK LLPGNDVEIK
160 170 180 190 200
KFLAGCLKCS KEEKLSLMQS LDDATKQLDF TRKTLAEKKQ ELDKLRNEWA
210 220 230 240 250
SHTAALTNKH SQELTNEKEK ALQAQVQYQQ QHEQQKKDLE ILHQQNIHQL
260 270 280 290 300
QNRLSELEAA NKDLTERKYK GDSTIRELKA KLSGVEEELQ RTKQEVLSLR
310 320 330 340 350
RENSTLDVEC HEKEKHVNQL QTKVAVLEQE IKDKDQLVLR TKEAFDTIQE
360 370 380 390 400
QKVVLEENGE KNQVQLGKLE ATIKSLSAEL LKANEIIKKL QGDLKTLMGK
410 420 430 440 450
LKLKNTVTIQ QEKLLAEKEE KLQKEQKELQ DVGQSLRIKE QEVCKLQEQL
460 470 480 490 500
EATVKKLEES KQLLKNNEKL ITWLNKELNE NQLVRKQDVL GPSTTPPAHS
510 520 530 540 550
SSNTIRSGIS PNLNVVDGRL TYPTCGIGYP VSSAFAFQNT FPHSISAKNT
560 570 580 590 600
SHPGSGTKVQ FNLQFTKPNA SLGDVQSGAT ISMPCSTDKE NGENVGLESK
610 620 630 640 650
YLKKREDSIP LRGLSQNLFS NSDHQRDGTL GALHTSSKPT ALPSASSAYF

PGQLPNS
Length:657
Mass (Da):74,397
Last modified:July 5, 2004 - v1
Checksum:i6D19696BC748849F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07383362I → T in MCPH14; impairs the centriole-forming function of the protein. 1 PublicationCorresponds to variant dbSNP:rs876661307EnsemblClinVar.1
Natural variantiVAR_021590259A → V. Corresponds to variant dbSNP:rs13375867Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY359522 mRNA Translation: AAQ57128.1
AC093019 Genomic DNA No translation available.
AL445928 Genomic DNA No translation available.
CH471097 Genomic DNA Translation: EAW72974.1
CH471097 Genomic DNA Translation: EAW72975.1
AL834265 mRNA Translation: CAD38940.1
CCDSiCCDS764.1
RefSeqiNP_001291758.1, NM_001304829.1
NP_919268.1, NM_194292.2
UniGeneiHs.591447

Genome annotation databases

EnsembliENST00000287482; ENSP00000287482; ENSG00000156876
GeneIDi163786
KEGGihsa:163786
UCSCiuc001dsu.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY359522 mRNA Translation: AAQ57128.1
AC093019 Genomic DNA No translation available.
AL445928 Genomic DNA No translation available.
CH471097 Genomic DNA Translation: EAW72974.1
CH471097 Genomic DNA Translation: EAW72975.1
AL834265 mRNA Translation: CAD38940.1
CCDSiCCDS764.1
RefSeqiNP_001291758.1, NM_001304829.1
NP_919268.1, NM_194292.2
UniGeneiHs.591447

3D structure databases

ProteinModelPortaliQ6UVJ0
SMRiQ6UVJ0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127880, 83 interactors
ComplexPortaliCPX-1159 CPAP-STIL complex
IntActiQ6UVJ0, 68 interactors
MINTiQ6UVJ0
STRINGi9606.ENSP00000287482

PTM databases

iPTMnetiQ6UVJ0
PhosphoSitePlusiQ6UVJ0

Polymorphism and mutation databases

BioMutaiSASS6
DMDMi62511032

Proteomic databases

EPDiQ6UVJ0
MaxQBiQ6UVJ0
PaxDbiQ6UVJ0
PeptideAtlasiQ6UVJ0
PRIDEiQ6UVJ0
ProteomicsDBi67430

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000287482; ENSP00000287482; ENSG00000156876
GeneIDi163786
KEGGihsa:163786
UCSCiuc001dsu.4 human

Organism-specific databases

CTDi163786
DisGeNETi163786
EuPathDBiHostDB:ENSG00000156876.9
GeneCardsiSASS6
HGNCiHGNC:25403 SASS6
HPAiHPA028187
MalaCardsiSASS6
MIMi609321 gene
616402 phenotype
neXtProtiNX_Q6UVJ0
OpenTargetsiENSG00000156876
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA142670950
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF03 Eukaryota
ENOG410XQWJ LUCA
GeneTreeiENSGT00390000006932
HOGENOMiHOG000124668
HOVERGENiHBG079167
InParanoidiQ6UVJ0
KOiK16487
OMAiPSAYFPK
OrthoDBiEOG091G09W4
PhylomeDBiQ6UVJ0
TreeFamiTF326199

Miscellaneous databases

ChiTaRSiSASS6 human
GeneWikiiSASS6
GenomeRNAii163786
PROiPR:Q6UVJ0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156876 Expressed in 140 organ(s), highest expression level in oocyte
CleanExiHS_SASS6
GenevisibleiQ6UVJ0 HS

Family and domain databases

Gene3Di2.170.210.20, 1 hit
InterProiView protein in InterPro
IPR032396 SAS-6_N
IPR038558 SAS-6_N_sf
PfamiView protein in Pfam
PF16531 SAS-6_N, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSAS6_HUMAN
AccessioniPrimary (citable) accession number: Q6UVJ0
Secondary accession number(s): D3DT55, Q8N3K0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: July 5, 2004
Last modified: November 7, 2018
This is version 121 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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