• Gene id: 163786

Gene Summary

• Gene Symbol: SASS6   Gene   UCSC   Ensembl
• Aliases: MCPH14, SAS-6, SAS6
• Gene name: SAS-6 centriolar assembly protein
• Alternate names: spindle assembly abnormal protein 6 homolog,
• Gene location: 1p21.2 (100132929: 100082631)     Exons: 18     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 610107

Protein Summary

• Protein general information: Q6UVJ0  
  • Name: Spindle assembly abnormal protein 6 homolog (HsSAS 6)
  • Length: 657  
  • Mass: 74397
• Sequence:

  MSQVLFHQLVPLQVKCKDCEERRVSIRMSIELQSVSNPVHRKDLVIRLTDDTDPFFLYNLVISEEDFQSLKFQQG
  LLVDFLAFPQKFIDLLQQCTQEHAKEIPRFLLQLVSPAAILDNSPAFLNVVETNPFKHLTHLSLKLLPGNDVEIK
  KFLAGCLKCSKEEKLSLMQSLDDATKQLDFTRKTLAEKKQELDKLRNEWASHTAALTNKHSQELTNEKEKALQAQ
  VQYQQQHEQQKKDLEILHQQNIHQLQNRLSELEAANKDLTERKYKGDSTIRELKAKLSGVEEELQRTKQEVLSLR
  RENSTLDVECHEKEKHVNQLQTKVAVLEQEIKDKDQLVLRTKEAFDTIQEQKVVLEENGEKNQVQLGKLEATIKS
  LSAELLKANEIIKKLQGDLKTLMGKLKLKNTVTIQQEKLLAEKEEKLQKEQKELQDVGQSLRIKEQEVCKLQEQL
  EATVKKLEESKQLLKNNEKLITWLNKELNENQLVRKQDVLGPSTTPPAHSSSNTIRSGISPNLNVVDGRLTYPTC
  GIGYPVSSAFAFQNTFPHSISAKNTSHPGSGTKVQFNLQFTKPNASLGDVQSGATISMPCSTDKENGENVGLESK
  YLKKREDSIPLRGLSQNLFSNSDHQRDGTLGALHTSSKPTALPSASSAYFPGQLPNS

• Structural information:
  • Protein Domains: (39..9-)
    (/note="PISA"-)
  • Interpro: IPR032396  IPR038558  IPR041513  
  • STRING: ENSP00000287482
• Other Databases: GeneCards:  SASS6  Malacards:  SASS6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0007099	centriole replication	IMP	biological process
GO:0007099	centriole replication	IMP	biological process
GO:0007099	centriole replication	IMP	biological process
GO:0098536	deuterosome	ISS	cellular component
GO:0098536	deuterosome	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098536	deuterosome	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051298	centrosome duplication	IMP	biological process
GO:0005813	centrosome	NAS	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0007099	centriole replication	IMP	biological process
GO:0007099	centriole replication	IMP	biological process
GO:0007099	centriole replication	IMP	biological process
GO:0098536	deuterosome	ISS	cellular component
GO:0098536	deuterosome	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098536	deuterosome	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051298	centrosome duplication	IMP	biological process
GO:0005813	centrosome	NAS	cellular component

Diseases

Associated diseases	References
Primary microcephaly	KEGG:H00269
Primary microcephaly	KEGG:H00269
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881