TTC8 tetratricopeptide repeat domain 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TTC8provided by HGNC
Official Full Name: tetratricopeptide repeat domain 8provided by HGNC
Primary source: HGNC:HGNC:20087
See related: Ensembl:ENSG00000165533 MIM:608132; AllianceGenome:HGNC:20087
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BBS8; RP51
Summary: This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Expression: Broad expression in ovary (RPKM 24.2), adrenal (RPKM 16.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q31.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (88824153..88881079)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (83047758..83104682)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (89290497..89347423)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome.
Title: Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Observational study of genetic testing. (HuGE Navigator)
Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
A splice-site mutation in a retina-specific exon of TTC8 causes nonsyndromic retinitis pigmentosa.
Title: A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
small role of BBS7 and TTC8 in the overall mutational load of Bardet-Biedl syndrome patients
Title: BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
Observational study of gene-disease association. (HuGE Navigator)
Title: BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
A homozygous null BBS8 mutation leads to Bardet-Biedl syndrome with randomization of left-right body axis symmetry, a known defect of the nodal cilium
Title: Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bardet-Biedl syndrome 8 MedGen: C1859566 OMIM: 615985 GeneReviews: Bardet-Biedl Syndrome Overview	not available
Retinitis pigmentosa 51 MedGen: C3150715 OMIM: 613464 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	not available

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-80923 (e-PCR)
- UniSTS:104969

G65613 (e-PCR)
- UniSTS:225549

SHGC-30768 (e-PCR)
- UniSTS:36394

WI-22228 (e-PCR)
- UniSTS:15679

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in camera-type eye photoreceptor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in cilium assembly	TAS Traceable Author Statement more info	PubMed
involved_in establishment of anatomical structure orientation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of epithelial cell apical/basal polarity	IEA Inferred from Electronic Annotation more info
involved_in establishment of planar polarity	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in inner ear receptor cell stereocilium organization	IEA Inferred from Electronic Annotation more info
involved_in multi-ciliated epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in olfactory bulb development	IEA Inferred from Electronic Annotation more info
involved_in protein localization to plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein localization	IEA Inferred from Electronic Annotation more info
involved_in regulation of stress fiber assembly	IEA Inferred from Electronic Annotation more info
involved_in renal tubule development	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of smell	IEA Inferred from Electronic Annotation more info
involved_in sensory processing	TAS Traceable Author Statement 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	IPI Inferred from Physical Interaction more info	PubMed
located_in centriolar satellite	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in non-motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor connecting cilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tetratricopeptide repeat protein 8

Names: Bardet-Biedl syndrome type 8; TPR repeat protein 8

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.

Genomic

NG_008126.2 RefSeqGene

Range

5499..58836

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001288781.1 → NP_001275710.1 tetratricopeptide repeat protein 8 isoform D

See identical proteins and their annotated locations for NP_001275710.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) includes an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (D) is longer, compared to isoform A.

Source sequence(s)

BC026351, BU738965, BX247959

Consensus CDS

CCDS73674.1

UniProtKB/Swiss-Prot

A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8

UniProtKB/TrEMBL

A0A0C4DGX9

Related

ENSP00000337653.6, ENST00000338104.10

Conserved Domains (2) summary

COG0457
Location:257 → 514

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

sd00006
Location:377 → 404

TPR; TPR repeat [structural motif]
NM_001288782.1 → NP_001275711.1 tetratricopeptide repeat protein 8 isoform E

See identical proteins and their annotated locations for NP_001275711.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in its 5' UTR, uses an alternate start codon and an alternate splice site in its 5' coding region, and lacks an exon in its 5' coding region, compared to variant 1. The encoded isoform (E) has a shorter and distinct N-terminus, compared to isoform A.

Source sequence(s)

BU738965, BX161472, BX247959

UniProtKB/TrEMBL

A0A0S2Z5V9

Conserved Domains (2) summary

sd00006
Location:163 → 190

TPR; TPR repeat [structural motif]

pfam13414
Location:199 → 264

TPR_11; TPR repeat
NM_001288783.1 → NP_001275712.1 tetratricopeptide repeat protein 8 isoform F

See identical proteins and their annotated locations for NP_001275712.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (F) has a shorter N-terminus, compared to isoform A.

Source sequence(s)

AK093891, AY366523, BU738965, BX247959

UniProtKB/TrEMBL

B3KSL8

Conserved Domains (3) summary

TIGR02521
Location:102 → 223

type_IV_pilW; type IV pilus biogenesis/stability protein PilW

TIGR02917
Location:2 → 259

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:122 → 149

TPR; TPR repeat [structural motif]
NM_001366535.2 → NP_001353464.1 tetratricopeptide repeat protein 8 isoform G

Status: REVIEWED

Source sequence(s)

AL121768, AL133238

UniProtKB/TrEMBL

H0YJX0

Conserved Domains (3) summary

COG0457
Location:170 → 397

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

sd00006
Location:220 → 243

TPR; TPR repeat [structural motif]

cl26004
Location:366 → 443

PRK02603; photosystem I assembly protein Ycf3; Provisional
NM_001366536.2 → NP_001353465.1 tetratricopeptide repeat protein 8 isoform H

Status: REVIEWED

Source sequence(s)

AL121768, AL133238

UniProtKB/TrEMBL

H0YJX0

Related

ENSP00000452354.1, ENST00000554686.5

Conserved Domains (3) summary

sd00006
Location:190 → 213

TPR; TPR repeat [structural motif]

pfam13429
Location:160 → 314

TPR_15; Tetratricopeptide repeat

cl26002
Location:262 → 409

TPR_11; TPR repeat
NM_144596.4 → NP_653197.2 tetratricopeptide repeat protein 8 isoform A

See identical proteins and their annotated locations for NP_653197.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform A.

Source sequence(s)

AK124675, AY366523, BX247959

Consensus CDS

CCDS32137.1

UniProtKB/Swiss-Prot

A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8

Related

ENSP00000370031.2, ENST00000380656.7

Conserved Domains (2) summary

COG0457
Location:241 → 498

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

sd00006
Location:361 → 388

TPR; TPR repeat [structural motif]
NM_198309.3 → NP_938051.1 tetratricopeptide repeat protein 8 isoform B

See identical proteins and their annotated locations for NP_938051.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (B) is shorter, compared to isoform A.

Source sequence(s)

AY366523, BU738965, BX247959

Consensus CDS

CCDS9885.1

UniProtKB/Swiss-Prot

A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8

UniProtKB/TrEMBL

A0A0C4DGY3

Related

ENSP00000482721.1, ENST00000622513.4

Conserved Domains (2) summary

COG0457
Location:231 → 488

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

sd00006
Location:351 → 378

TPR; TPR repeat [structural motif]
NM_198310.3 → NP_938052.1 tetratricopeptide repeat protein 8 isoform C

See identical proteins and their annotated locations for NP_938052.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two in-frame exons in the 5' and central coding region, compared to variant 1. The encoded isoform (C) is shorter, compared to isoform A.

Source sequence(s)

AY366524, BU738965, BX247959

Consensus CDS

CCDS9886.1

UniProtKB/TrEMBL

A0A0C4DGH8, H0YJX0

Related

ENSP00000298324.6, ENST00000346301.8

Conserved Domains (2) summary

COG0457
Location:201 → 458

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

sd00006
Location:321 → 348

TPR; TPR repeat [structural motif]

RNA

NR_159362.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL121768, AL133238

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

88824153..88881079

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011536433.3 → XP_011534735.1 tetratricopeptide repeat protein 8 isoform X1

UniProtKB/Swiss-Prot

A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8

Conserved Domains (3) summary

sd00006
Location:246 → 269

TPR; TPR repeat [structural motif]

pfam13414
Location:275 → 338

TPR_11; TPR repeat

pfam13432
Location:417 → 476

TPR_16; Tetratricopeptide repeat
XM_011536434.3 → XP_011534736.1 tetratricopeptide repeat protein 8 isoform X2

UniProtKB/Swiss-Prot

A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8

Conserved Domains (2) summary

COG0457
Location:227 → 484

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

sd00006
Location:347 → 374

TPR; TPR repeat [structural motif]