Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	163786
Gene name	SAS-6 centriolar assembly protein
Gene symbol	SASS6
Synonyms (NCBI Gene)	MCPH14SAS-6SAS6
Chromosome	1
Chromosome location	1p21.2
Summary	The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. De

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs876661307	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1193888919	->T	Likely-pathogenic	Frameshift variant, coding sequence variant

112

Show/Hide all (112)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026834	hsa-miR-192-5p	Microarray	19074876
MIRT050698	hsa-miR-18a-5p	CLASH	23622248
MIRT726657	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT726656	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT1326518	hsa-miR-101	CLIP-seq
MIRT1326519	hsa-miR-1185	CLIP-seq
MIRT1326520	hsa-miR-1224-5p	CLIP-seq
MIRT1326521	hsa-miR-1275	CLIP-seq
MIRT1326522	hsa-miR-1278	CLIP-seq
MIRT1326523	hsa-miR-1303	CLIP-seq
MIRT1326524	hsa-miR-1304	CLIP-seq
MIRT1326525	hsa-miR-132	CLIP-seq
MIRT1326526	hsa-miR-142-3p	CLIP-seq
MIRT1326527	hsa-miR-144	CLIP-seq
MIRT1326528	hsa-miR-199a-3p	CLIP-seq
MIRT1326529	hsa-miR-199b-3p	CLIP-seq
MIRT1326530	hsa-miR-2052	CLIP-seq
MIRT1326531	hsa-miR-212	CLIP-seq
MIRT1326532	hsa-miR-3123	CLIP-seq
MIRT1326533	hsa-miR-3124-3p	CLIP-seq
MIRT1326534	hsa-miR-3129-5p	CLIP-seq
MIRT1326535	hsa-miR-3135	CLIP-seq
MIRT1326536	hsa-miR-3143	CLIP-seq
MIRT1326537	hsa-miR-3152-5p	CLIP-seq
MIRT1326538	hsa-miR-3163	CLIP-seq
MIRT1326539	hsa-miR-3180-5p	CLIP-seq
MIRT1326540	hsa-miR-3188	CLIP-seq
MIRT1326541	hsa-miR-320a	CLIP-seq
MIRT1326542	hsa-miR-320b	CLIP-seq
MIRT1326543	hsa-miR-320c	CLIP-seq
MIRT1326544	hsa-miR-320d	CLIP-seq
MIRT1326545	hsa-miR-338-5p	CLIP-seq
MIRT1326546	hsa-miR-340	CLIP-seq
MIRT1326547	hsa-miR-3605-5p	CLIP-seq
MIRT1326548	hsa-miR-3614-5p	CLIP-seq
MIRT1326549	hsa-miR-3667-3p	CLIP-seq
MIRT1326550	hsa-miR-3679-5p	CLIP-seq
MIRT1326551	hsa-miR-3689d	CLIP-seq
MIRT1326552	hsa-miR-374c	CLIP-seq
MIRT1326553	hsa-miR-3915	CLIP-seq
MIRT1326554	hsa-miR-3925-5p	CLIP-seq
MIRT1326555	hsa-miR-3973	CLIP-seq
MIRT1326556	hsa-miR-4280	CLIP-seq
MIRT1326557	hsa-miR-4429	CLIP-seq
MIRT1326558	hsa-miR-4447	CLIP-seq
MIRT1326559	hsa-miR-4448	CLIP-seq
MIRT1326560	hsa-miR-4472	CLIP-seq
MIRT1326561	hsa-miR-4477a	CLIP-seq
MIRT1326562	hsa-miR-4525	CLIP-seq
MIRT1326563	hsa-miR-4643	CLIP-seq
MIRT1326564	hsa-miR-4665-5p	CLIP-seq
MIRT1326565	hsa-miR-4678	CLIP-seq
MIRT1326566	hsa-miR-4689	CLIP-seq
MIRT1326567	hsa-miR-4694-3p	CLIP-seq
MIRT1326568	hsa-miR-4723-5p	CLIP-seq
MIRT1326569	hsa-miR-4724-3p	CLIP-seq
MIRT1326570	hsa-miR-4742-3p	CLIP-seq
MIRT1326571	hsa-miR-4774-3p	CLIP-seq
MIRT1326572	hsa-miR-4799-5p	CLIP-seq
MIRT1326573	hsa-miR-489	CLIP-seq
MIRT1326574	hsa-miR-520a-5p	CLIP-seq
MIRT1326575	hsa-miR-520g	CLIP-seq
MIRT1326576	hsa-miR-520h	CLIP-seq
MIRT1326577	hsa-miR-522	CLIP-seq
MIRT1326578	hsa-miR-525-5p	CLIP-seq
MIRT1326579	hsa-miR-543	CLIP-seq
MIRT1326580	hsa-miR-548c-3p	CLIP-seq
MIRT1326581	hsa-miR-561	CLIP-seq
MIRT1326582	hsa-miR-599	CLIP-seq
MIRT1326583	hsa-miR-625	CLIP-seq
MIRT1326584	hsa-miR-655	CLIP-seq
MIRT1326585	hsa-miR-890	CLIP-seq
MIRT2096991	hsa-miR-3065-5p	CLIP-seq
MIRT2096992	hsa-miR-376c	CLIP-seq
MIRT2096993	hsa-miR-4699-3p	CLIP-seq
MIRT2096994	hsa-miR-656	CLIP-seq
MIRT2321265	hsa-miR-1912	CLIP-seq
MIRT1326533	hsa-miR-3124-3p	CLIP-seq
MIRT2321266	hsa-miR-3130-5p	CLIP-seq
MIRT2321267	hsa-miR-383	CLIP-seq
MIRT2321268	hsa-miR-4272	CLIP-seq
MIRT2321269	hsa-miR-4287	CLIP-seq
MIRT2321270	hsa-miR-4469	CLIP-seq
MIRT1326561	hsa-miR-4477a	CLIP-seq
MIRT2321271	hsa-miR-4482	CLIP-seq
MIRT1326563	hsa-miR-4643	CLIP-seq
MIRT2321272	hsa-miR-4685-3p	CLIP-seq
MIRT2321273	hsa-miR-4772-5p	CLIP-seq
MIRT2321274	hsa-miR-502-5p	CLIP-seq
MIRT2321275	hsa-miR-581	CLIP-seq
MIRT2321276	hsa-miR-630	CLIP-seq
MIRT2321265	hsa-miR-1912	CLIP-seq
MIRT2096991	hsa-miR-3065-5p	CLIP-seq
MIRT2617522	hsa-miR-3127-3p	CLIP-seq
MIRT2321266	hsa-miR-3130-5p	CLIP-seq
MIRT1326545	hsa-miR-338-5p	CLIP-seq
MIRT2096992	hsa-miR-376c	CLIP-seq
MIRT2321267	hsa-miR-383	CLIP-seq
MIRT2321271	hsa-miR-4482	CLIP-seq
MIRT2617523	hsa-miR-4517	CLIP-seq
MIRT2096993	hsa-miR-4699-3p	CLIP-seq
MIRT2321273	hsa-miR-4772-5p	CLIP-seq
MIRT2617524	hsa-miR-587	CLIP-seq
MIRT2096994	hsa-miR-656	CLIP-seq
MIRT2617525	hsa-miR-889	CLIP-seq
MIRT2321265	hsa-miR-1912	CLIP-seq
MIRT2321266	hsa-miR-3130-5p	CLIP-seq
MIRT2321267	hsa-miR-383	CLIP-seq
MIRT2321271	hsa-miR-4482	CLIP-seq
MIRT2617523	hsa-miR-4517	CLIP-seq
MIRT2321273	hsa-miR-4772-5p	CLIP-seq
MIRT2617525	hsa-miR-889	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21725316, 22020124, 23511974, 24107630, 26638075, 28514442, 31722219, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IDA	22020124
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	15665853, 21399614, 22349705, 24107630, 31722219
GO:0005813	Component	Centrosome	IEA
GO:0005813	Component	Centrosome	NAS	14654843
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	17681131, 22020124, 22349705, 24421332
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007099	Process	Centriole replication	IBA
GO:0007099	Process	Centriole replication	IMP	16244668, 17681131, 22020124
GO:0007283	Process	Spermatogenesis	IBA
GO:0046601	Process	Positive regulation of centriole replication	IDA	22020124
GO:0051298	Process	Centrosome duplication	IMP	15665853
GO:0060236	Process	Regulation of mitotic spindle organization	NAS	17576815
GO:0098536	Component	Deuterosome	IEA
GO:0098536	Component	Deuterosome	ISS
GO:0120099	Component	Procentriole replication complex	IPI	22020124
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IDA	22020124
GO:1905832	Process	Positive regulation of spindle assembly	NAS	17576815

MIM	HGNC	e!Ensembl
609321	25403	ENSG00000156876

Q6UVJ0

Protein name

Spindle assembly abnormal protein 6 homolog (HsSAS-6) (Spindle assembly defective protein 6)

Protein 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 cent

PDB

6YS4 , 6Z4A

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16531	SAS-6_N	44 → 141	Centriolar protein SAS N-terminal	Domain
PF18594	Sas6_CC	146 → 173	Sas6/XLF/XRCC4 coiled-coil domain	Coiled-coil

Sequence

MSQVLFHQLVPLQVKCKDCEERRVSIRMSIELQSVSNPVHRKDLVIRLTDDTDPFFLYNL
VISEEDFQSLKFQQGLLVDFLAFPQKFIDLLQQCTQEHAKEIPRFLLQLVSPAAILDNSP
AFLNVVETNPFKHLTHLSLKLLPGNDVEIKKFLAGCLKCSKEEKLSLMQSLDDATKQLDF
TRKTLAEKKQELDKLRNEWASHTAALTNKHSQELTNEKEKALQAQVQYQQQHEQQKKDLE
ILHQQNIHQLQNRLSELEAANKDLTERKYKGDSTIRELKAKLSGVEEELQRTKQEVLSLR
RENSTLDVECHEKEKHVNQLQTKVAVLEQEIKDKDQLVLRTKEAFDTIQEQKVVLEENGE
KNQVQLGKLEATIKSLSAELLKANEIIKKLQGDLKTLMGKLKLKNTVTIQQEKLLAEKEE
KLQKEQKELQDVGQSLRIKEQEVCKLQEQLEATVKKLEESKQLLKNNEKLITWLNKELNE
NQLVRKQDVLGPSTTPPAHSSSNTIRSGISPNLNVVDGRLTYPTCGIGYPVSSAFAFQNT
FPHSISAKNTSHPGSGTKVQFNLQFTKPNASLGDVQSGATISMPCSTDKENGENVGLESK
YLKKREDSIPLRGLSQNLFSNSDHQRDGTLGALHTSSKPTALPSASSAYFPGQLPNS

Sequence length

657

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Microcephaly 14, primary, autosomal recessive	Pathogenic; Likely pathogenic	rs876661307, rs763290832, rs2523730965, rs1406541512, rs1651181046	RCV000172831 RCV003229496 RCV003236350 RCV004799267 RCV001255652 RCV001255653 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SASS6-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26035073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	36739862	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	24951542, 30639237		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Microcephaly	ORPHANET_DG	24951542		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive primary microcephaly	Microcephaly	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	36739862	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	26035073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26035073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	29045280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	21273447, 21277013, 24951542, 25548773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26035073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26035073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	30945443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30639237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	36739862	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	GENOMICS_ENGLAND_DG	24951542		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	UNIPROT_DG	24951542		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	30945443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SASS6 (SAS-6 centriolar assembly protein)