Ttc8 - tetratricopeptide repeat domain 8 Gene

Also Known as BBS8; 0610012F22Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 76260

Summary

Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in cilium assembly. Acts upstream of or within several processes, including morphogenesis of a polarized epithelium; negative regulation of GTPase activity; and nervous system development. Located in membrane and photoreceptor connecting cilium. Part of BBSome. Is expressed in sensory organ; spermatid; and telencephalon. Used to study Bardet-Biedl syndrome 8. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 8; and retinitis pigmentosa 51. Orthologous to human TTC8 (tetratricopeptide repeat domain 8). [provided by Alliance of Genome Resources, Apr 2022]

Ttc8 Products (3)

mRNA Protein Name
NM_001364378.1 NP_001351307.1 tetratricopeptide repeat protein 8 isoform 3
NM_029553.4 NP_083829.1 tetratricopeptide repeat protein 8 isoform 2
NM_198311.2 NP_938053.1 tetratricopeptide repeat protein 8 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25605782 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within axon guidance IGI
IGI: Inferred from genetic interaction
21646512 MGI
acts upstream of or within camera-type eye photoreceptor cell differentiation IMP
IMP: Inferred from mutant phenotype
21646512 MGI
acts upstream of or within cilium assembly IMP
IMP: Inferred from mutant phenotype
21646512 MGI
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
22479622 MGI
acts upstream of or within establishment of epithelial cell apical/basal polarity IMP
IMP: Inferred from mutant phenotype
25605782 MGI
acts upstream of or within establishment of planar polarity IMP
IMP: Inferred from mutant phenotype
25605782 MGI
involved in fat cell differentiation IEP
IEP: Inferred from expression pattern
17379567 MGI
acts upstream of or within inner ear receptor cell stereocilium organization IMP
IMP: Inferred from mutant phenotype
25605782 MGI
acts upstream of or within multi-ciliated epithelial cell differentiation IMP
IMP: Inferred from mutant phenotype
25605782 MGI
acts upstream of or within multicellular organism growth IMP
IMP: Inferred from mutant phenotype
21646512 MGI
acts upstream of or within negative regulation of GTPase activity IMP
IMP: Inferred from mutant phenotype
23716571 MGI
acts upstream of or within olfactory bulb development IMP
IMP: Inferred from mutant phenotype
21646512 MGI
acts upstream of or within protein localization to plasma membrane IMP
IMP: Inferred from mutant phenotype
25605782 MGI
acts upstream of or within regulation of protein localization IMP
IMP: Inferred from mutant phenotype
21646512 MGI
acts upstream of or within regulation of stress fiber assembly IMP
IMP: Inferred from mutant phenotype
23716571 MGI
acts upstream of or within renal tubule development IMP
IMP: Inferred from mutant phenotype
21646512 MGI
acts upstream of or within sensory perception of smell IMP
IMP: Inferred from mutant phenotype
21646512 MGI
Cellular Component GO Annotation Evidence References Source
part of BBSome IDA
IDA: Inferred from direct assay
20080638 MGI
located in cilium IDA
IDA: Inferred from direct assay
25243405 MGI
located in membrane IDA
IDA: Inferred from direct assay
22139371 MGI
located in photoreceptor connecting cilium IDA
IDA: Inferred from direct assay
14520415 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

tetratricopeptide repeat protein 8

  • TPR repeat protein 8

  • bardet-Biedl syndrome 8 protein homolog

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15220 TTC8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Ttc8 NCBI NCBI:123016