Entity Details

Primary name SAS6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6UVJ0
EntryNameSAS6_HUMAN
FullNameSpindle assembly abnormal protein 6 homolog
TaxID9606
Evidenceevidence at protein level
Length657
SequenceStatuscomplete
DateCreated2005-04-12
DateModified2021-06-02

Ontological Relatives

GenesSASS6

GO terms

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GOName
GO:0005813 centrosome
GO:0005814 centriole
GO:0005829 cytosol
GO:0007099 centriole replication
GO:0034451 centriolar satellite
GO:0051298 centrosome duplication
GO:0098536 deuterosome

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR032396 Spindle assembly abnormal protein 6, N-terminalDomainDomain
IPR038558 SAS-6, N-terminal domain superfamilyFamilyHomologous superfamily
IPR041513 SAS-6 coiled-coil domainDomainDomain

Diseases

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Disease IDSourceNameDescription
616402 OMIMMicrocephaly 14, primary, autosomal recessive (MCPH14)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. The disease is caused by variants affecting the gene represented in this entry.