Ttc8 tetratricopeptide repeat domain 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ttc8provided by MGI
Official Full Name: tetratricopeptide repeat domain 8provided by MGI
Primary source: MGI:MGI:1923510
See related: Ensembl:ENSMUSG00000021013 AllianceGenome:MGI:1923510
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: BBS8; 0610012F22Rik
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]
Expression: Ubiquitous expression in frontal lobe adult (RPKM 9.8), limb E14.5 (RPKM 8.0) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 E; 12 49.88 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (98886796..98949509)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (98920537..98983250)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of Bardet-Biedl Syndrome proteins (BBS) proteins Bbs6 and Bbs8 affects ciliated retinal pigment epithelium (RPE).
Title: Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation.
Loss of BBS8 led to changes in the distribution of photoreceptor axonemal proteins and hyper-acetylation of ciliary microtubules. Studies demonstrate the requirement for BBS8 in early development and elaboration of ciliated photoreceptor OS, explaining the need for BBS8 in normal vision.
Title: Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons.
Results show that BBS8 exon 2A is highly photoreceptor specific and the splicing enhancers within the flanking introns are sufficient to drive photoreceptor-specific inclusion of exon 2A and unrelated exons.
Title: Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa.
Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea.
Title: Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea.
Data suggest that loss of BBS8 leads to a dramatic and variable reduction in cilia, which alters the uniformity of responses in populations of olfactory sensory neurons expressing the same receptor, contributing to the observed axon-targeting defects.
Title: Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within axon guidance	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within camera-type eye photoreceptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in establishment of anatomical structure orientation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within establishment of epithelial cell apical/basal polarity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of planar polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fat cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within inner ear receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multi-ciliated epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within olfactory bulb development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within renal tubule development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of smell	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BBSome	IBA Inferred from Biological aspect of Ancestor more info
part_of BBSome	IDA Inferred from Direct Assay more info	PubMed
part_of BBSome	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info	PubMed
located_in ciliary membrane	ISO Inferred from Sequence Orthology more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in non-motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tetratricopeptide repeat protein 8

Names: TPR repeat protein 8; bardet-Biedl syndrome 8 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001364378.1 → NP_001351307.1 tetratricopeptide repeat protein 8 isoform 3

Status: VALIDATED

Source sequence(s)

AC142227, AC159193, AK032748

Conserved Domains (3) summary

sd00006
Location:226 → 254

TPR; TPR repeat [structural motif]

pfam13429
Location:66 → 220

TPR_15; Tetratricopeptide repeat

cl26002
Location:207 → 328

TPR_11; TPR repeat
NM_029553.4 → NP_083829.1 tetratricopeptide repeat protein 8 isoform 2

See identical proteins and their annotated locations for NP_083829.1

Status: VALIDATED

Source sequence(s)

AC142227, AC159193, AK081697

Consensus CDS

CCDS26101.1

UniProtKB/Swiss-Prot

Q8VD72

Related

ENSMUSP00000082190.4, ENSMUST00000085109.10

Conserved Domains (2) summary

COG0457
Location:231 → 488

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:350 → 378

TPR; TPR repeat [structural motif]
NM_198311.2 → NP_938053.1 tetratricopeptide repeat protein 8 isoform 1

See identical proteins and their annotated locations for NP_938053.1

Status: VALIDATED

Source sequence(s)

AC159193, BC017523

Consensus CDS

CCDS26102.1

UniProtKB/Swiss-Prot

Q8VD72, Q9DCP7

Related

ENSMUSP00000078148.7, ENSMUST00000079146.13

Conserved Domains (2) summary

COG0457
Location:241 → 498

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:360 → 388

TPR; TPR repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

98886796..98949509

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030246975.1 → XP_030102835.1 tetratricopeptide repeat protein 8 isoform X1

Conserved Domains (3) summary

TIGR02521
Location:111 → 232

type_IV_pilW; type IV pilus biogenesis/stability protein PilW

TIGR02917
Location:9 → 268

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:130 → 158

TPR; TPR repeat [structural motif]