TTC8

Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.^[5]

TTC8
Identifiers
Aliases	TTC8, BBS8, RP51, tetratricopeptide repeat domain 8
External IDs	OMIM: 608132; MGI: 1923510; HomoloGene: 14988; GeneCards: TTC8; OMA:TTC8 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q31.3 Start 88,824,153 bp[1] End 88,881,078 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 E Start 98,886,833 bp[2] End 98,949,497 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left ovary islet of Langerhans right adrenal cortex right uterine tube pituitary gland right ovary anterior pituitary left adrenal gland left adrenal cortex stromal cell of endometrium Top expressed in neural layer of retina olfactory epithelium genital tubercle median eminence arcuate nucleus pineal gland tail of embryo habenula paraventricular nucleus of hypothalamus dorsomedial hypothalamic nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm ciliary basal body cytosol centrosome plasma membrane cell projection cilium cytoskeleton membrane ciliary membrane microtubule organizing center BBSome non-motile cilium photoreceptor connecting cilium Biological process protein transport establishment of anatomical structure orientation sensory processing cell projection organization cilium assembly non-motile cilium assembly axon guidance sensory perception of smell olfactory bulb development negative regulation of GTPase activity camera-type eye photoreceptor cell differentiation renal tubule development fat cell differentiation regulation of stress fiber assembly multicellular organism growth regulation of protein localization establishment of planar polarity inner ear receptor cell stereocilium organization multi-ciliated epithelial cell differentiation protein localization to plasma membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 123016 76260 Ensembl ENSG00000165533 ENSMUSG00000021013 UniProt Q8TAM2 Q8VD72 RefSeq (mRNA) NM_001288781 NM_001288782 NM_001288783 NM_144596 NM_198309 NM_198310 NM_001366535 NM_001366536 NM_029553 NM_198311 NM_001364378 RefSeq (protein) NP_001275710 NP_001275711 NP_001275712 NP_653197 NP_938051 NP_938052 NP_001353464 NP_001353465 NP_001275710.1 NP_083829 NP_938053 NP_001351307 Location (UCSC) Chr 14: 88.82 – 88.88 Mb Chr 12: 98.89 – 98.95 Mb PubMed search [3] [4]
Wikidata
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Function

TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome.^[5] PCM1 in turn is involved in centriolar replication during ciliogenesis.^[6]

TTC8 is located in the cilia of spermatids, retina, and bronchial epithelium cells.^[5]

Clinical significance

Mutations in the TTC8 gene is one of 14 genes^[7] identified as causal for Bardet–Biedl syndrome.^[5][8]