Ttc8 - tetratricopeptide repeat domain 8 Gene

Mus musculus

Also known as BBS8; 0610012F22Rik

Gene ID: 76260 | Gene type: protein coding

About Ttc8

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25605782	MGI

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

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

Name
Email *

	Sorry, but the email address you supplied was invalid.