SASS6
entrez
163786
canonical
uniprot
Q6UVJ0
canonical
ensembl
ENSG00000156876
resolver
ensp
ENSP00000287482
resolver
enst
ENST00000287482
resolver
genesymbol
SASS6
resolver
genesymbol_syn
SAS6
resolver
hgnc
HGNC:25403
resolver
uniprot
B4DYM7
resolver
uniprot
D3DT55
resolver
uniprot
Q495U0
resolver
uniprot
Q8N3K0
resolver
uniprot_entry
B4DYM7_HUMAN
resolver
uniprot_entry
Q495U0_HUMAN
resolver
uniprot_entry
SAS6_HUMAN
resolver
uniprot_sec
D3DT55
resolver
uniprot_sec
Q8N3K0
resolver
amino_acid_sequence
MSQVLFHQLVPLQVKCKDCEERRVSIRMSIELQSVSNPVHRKDLVIRLTDDTDPFFLYNLVISEEDFQSLKFQQGLLVDFLAFPQKFIDLLQQCTQEHAKEIPRFLLQLVSPAAILDNSPAFLNVVETNPFKHLTHLSLKLLPGNDVEIKKFLAGCLKCSKEEKLSLMQSLDDATKQLDFTRKTLAEKKQELDKLRNEWASHTAALTNKHSQELTNEKEKALQAQVQYQQQHEQQKKDLEILHQQNIHQLQNRLSELEAANKDLTERKYKGDSTIRELKAKLSGVEEELQRTKQEVLSLRRENSTLDVECHEKEKHVNQLQTKVAVLEQEIKDKDQLVLRTKEAFDTIQEQKVVLEENGEKNQVQLGKLEATIKSLSAELLKANEIIKKLQGDLKTLMGKLKLKNTVTIQQEKLLAEKEEKLQKEQKELQDVGQSLRIKEQEVCKLQEQLEATVKKLEESKQLLKNNEKLITWLNKELNENQLVRKQDVLGPSTTPPAHSSSNTIRSGISPNLNVVDGRLTYPTCGIGYPVSSAFAFQNTFPHSISAKNTSHPGSGTKVQFNLQFTKPNASLGDVQSGATISMPCSTDKENGENVGLESKYLKKREDSIPLRGLSQNLFSNSDHQRDGTLGALHTSSKPTALPSASSAYFPGQLPNS
uniprot
proteins
disease_involvement
DISEASE: Microcephaly 14, primary, autosomal recessive (MCPH14) [MIM:616402]: A 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. {ECO:0000269|PubMed:24951542}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Central scaffolding component of the centrioles ensuring their 9-fold symmetry (By similarity). Required for centrosome biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells (PubMed:15665853, PubMed:16244668, PubMed:17681131). Not required for centriole formation in embryonic stem cells but necessary to maintain centriole architecture (By similarity). Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification (PubMed:22020124). Overexpression results in excess foci-bearing centriolar markers (PubMed:15665853). {ECO:0000250|UniProtKB:Q7ZVT3, ECO:0000250|UniProtKB:Q80UK7, ECO:0000269|PubMed:15665853, ECO:0000269|PubMed:16244668, ECO:0000269|PubMed:17681131, ECO:0000269|PubMed:22020124}.
uniprot
proteins
mass_dalton
74397
uniprot
proteins
mutagenesis
MUTAGEN 131; /note="F->D: Fails to multimerize via N-terminus."; /evidence="ECO:0000269|PubMed:21273447
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the SCF(FBXW5) E3 ubiquitin-protein ligase complex during S phase, leading to its degradation and preventing centriole reduplication. Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex, leading to its degradation and preventing centriole reduplication (PubMed:31722219). {ECO:0000269|PubMed:21725316, ECO:0000269|PubMed:31722219}.
uniprot
proteins
pubmed
15572125
uniprot
proteins
pubmed
15665853
uniprot
proteins
pubmed
16244668
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17681131
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21273447
uniprot
proteins
pubmed
21725316
uniprot
proteins
pubmed
22020124
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24107630
uniprot
proteins
pubmed
24951542
uniprot
proteins
pubmed
31722219
uniprot
proteins
sequence_length
657
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:15665853, ECO:0000269|PubMed:24107630, ECO:0000269|PubMed:31722219}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:15572125, ECO:0000269|PubMed:15665853, ECO:0000269|PubMed:17681131}. Note=Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles (By similarity). Component of the centrosome. Associated only transiently with nascent procentrioles during centriole biogenesis. {ECO:0000250|UniProtKB:Q80UK7}.
uniprot
proteins