Entity Details

Primary name TTC12_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H892
EntryNameTTC12_HUMAN
FullNameTetratricopeptide repeat protein 12
TaxID9606
Evidenceevidence at protein level
Length705
SequenceStatuscomplete
DateCreated2003-12-15
DateModified2021-06-02

Ontological Relatives

GenesTTC12

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0007288 sperm axoneme assembly
GO:0070286 axonemal dynein complex assembly

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR001440 Tetratricopeptide repeat 1RepeatRepeat
IPR011990 Tetratricopeptide-like helical domain superfamilyFamilyHomologous superfamily
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR019734 Tetratricopeptide repeatRepeatRepeat
IPR043195 Tetratricopeptide repeat protein 12FamilyFamily

Diseases

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Disease IDSourceNameDescription
618801 OMIMCiliary dyskinesia, primary, 45 (CILD45)A form of primary ciliary dyskinesia, 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. CILD45 is an autosomal recessive form characterized by onset of symptoms in infancy or early childhood. Male patients have infertility due to immotile sperm. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions