Entity Details

Primary name TTC8_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8TAM2
EntryNameTTC8_HUMAN
FullNameTetratricopeptide repeat protein 8
TaxID9606
Evidenceevidence at protein level
Length541
SequenceStatuscomplete
DateCreated2003-07-19
DateModified2021-06-02

Ontological Relatives

GenesTTC8

GO terms

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GOName
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005929 cilium
GO:0015031 protein transport
GO:0034464 BBSome
GO:0036064 ciliary basal body
GO:0048560 establishment of anatomical structure orientation
GO:0050893 sensory processing
GO:0060170 ciliary membrane
GO:0060271 cilium assembly
GO:0097730 non-motile cilium
GO:1905515 non-motile cilium assembly

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR011990 Tetratricopeptide-like helical domain superfamilyFamilyHomologous superfamily
IPR019734 Tetratricopeptide repeatRepeatRepeat
IPR028796 Tetratricopeptide repeat protein 8FamilyFamily

Diseases

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Disease IDSourceNameDescription
613464 OMIMRetinitis pigmentosa 51 (RP51)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.
615985 OMIMBardet-Biedl syndrome 8 (BBS8)A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The disease is caused by variants affecting the gene represented in this entry.