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Protein

Spindle assembly abnormal protein 6 homolog

Gene

SASS6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

Keywords - Biological processi

Cell 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

HGNCiHGNC:25403. SASS6.

Subcellular locationi

GO - Cellular componenti

  • centriole Source: UniProtKB
  • centrosome Source: UniProtKB
  • deuterosome Source: UniProtKB
Complete GO annotation...

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 Publication1

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.
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.

PTM databases

iPTMnetiQ6UVJ0.
PhosphoSitePlusiQ6UVJ0.

Expressioni

Gene expression databases

BgeeiENSG00000156876.
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). Part of a ternary complex composed of SASS6, CENPJ and CEP350. Interacts with FBXW5. Forms a complex with CENPJ and STIL (PubMed:22020124).By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP135Q66GS98EBI-1570153,EBI-1046993
STILQ154684EBI-1570153,EBI-7488405

Protein-protein interaction databases

BioGridi127880. 78 interactors.
IntActiQ6UVJ0. 66 interactors.
MINTiMINT-6776971.
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

Sequence similaritiesi

Contains 1 PISA domain.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

InterProiIPR029678. SAS-6.
IPR032396. SAS-6_N.
[Graphical view]
PANTHERiPTHR18937:SF279. PTHR18937:SF279. 2 hits.
PfamiPF16531. SAS-6_N. 1 hit.
[Graphical view]

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 Publication1
Natural variantiVAR_021590259A → V.Corresponds to variant rs13375867dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY359522 mRNA. Translation: AAQ57128.1.
AL445928, AC093019 Genomic DNA. Translation: CAH72248.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY359522 mRNA. Translation: AAQ57128.1.
AL445928, AC093019 Genomic DNA. Translation: CAH72248.1.
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. 78 interactors.
IntActiQ6UVJ0. 66 interactors.
MINTiMINT-6776971.
STRINGi9606.ENSP00000287482.

PTM databases

iPTMnetiQ6UVJ0.
PhosphoSitePlusiQ6UVJ0.

Polymorphism and mutation databases

BioMutaiSASS6.
DMDMi62511032.

Proteomic databases

EPDiQ6UVJ0.
MaxQBiQ6UVJ0.
PaxDbiQ6UVJ0.
PeptideAtlasiQ6UVJ0.
PRIDEiQ6UVJ0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi163786.
DisGeNETi163786.
GeneCardsiSASS6.
HGNCiHGNC:25403. SASS6.
HPAiHPA028187.
MalaCardsiSASS6.
MIMi609321. gene.
616402. phenotype.
neXtProtiNX_Q6UVJ0.
OpenTargetsiENSG00000156876.
PharmGKBiPA142670950.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiSASS6. human.
GeneWikiiSASS6.
GenomeRNAii163786.
PROiQ6UVJ0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156876.
CleanExiHS_SASS6.
GenevisibleiQ6UVJ0. HS.

Family and domain databases

InterProiIPR029678. SAS-6.
IPR032396. SAS-6_N.
[Graphical view]
PANTHERiPTHR18937:SF279. PTHR18937:SF279. 2 hits.
PfamiPF16531. SAS-6_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSAS6_HUMAN
AccessioniPrimary (citable) accession number: Q6UVJ0
Secondary accession number(s): D3DT55, Q8N3K0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: July 5, 2004
Last modified: November 2, 2016
This is version 108 of the entry and version 1 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.