Entity Details

Primary name SPAG1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ07617
EntryNameSPAG1_HUMAN
FullNameSperm-associated antigen 1
TaxID9606
Evidenceevidence at protein level
Length926
SequenceStatuscomplete
DateCreated2005-02-01
DateModified2021-06-02

Ontological Relatives

GenesSPAG1

GO terms

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GOName
GO:0005525 GTP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0007338 single fertilization
GO:0016787 hydrolase activity
GO:0070286 axonemal dynein complex assembly

Subcellular Location

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Subcellular Location
Cytoplasm
Dynein axonemal particle

Domains

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DomainNameCategoryType
IPR001440 Tetratricopeptide repeat 1RepeatRepeat
IPR011990 Tetratricopeptide-like helical domain superfamilyFamilyHomologous superfamily
IPR019734 Tetratricopeptide repeatRepeatRepeat
IPR025986 RNA-polymerase II-associated protein 3-like, C-terminal domainDomainDomain

Diseases

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Disease IDSourceNameDescription
615505 OMIMCiliary dyskinesia, primary, 28 (CILD28)A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. The disease is caused by variants affecting the gene represented in this entry.