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Aliases for TTC8 Gene

Aliases for TTC8 Gene

  • Tetratricopeptide Repeat Domain 8 2 3
  • BBS8 3 4 6
  • TPR Repeat Protein 8 3 4
  • RP51 3 6
  • Tetratricopeptide Repeat Protein 8 3
  • Bardet-Biedl Syndrome 8 Protein 4
  • Bardet-Biedl Syndrome Type 8 3

External Ids for TTC8 Gene

Summaries for TTC8 Gene

Entrez Gene Summary for TTC8 Gene

  • 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]

GeneCards Summary for TTC8 Gene

TTC8 (Tetratricopeptide Repeat Domain 8) is a Protein Coding gene. Diseases associated with TTC8 include bardet-biedl syndrome 8 and retinitis pigmentosa 51. An important paralog of this gene is BBS4.

UniProtKB/Swiss-Prot for TTC8 Gene

  • The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.

Gene Wiki entry for TTC8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC8 Gene

Genomics for TTC8 Gene

Genomic Location for TTC8 Gene

Start:
88,824,153 bp from pter
End:
88,881,078 bp from pter
Size:
56,926 bases
Orientation:
Plus strand

Genomic View for TTC8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TTC8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC8 Gene

Regulatory Elements for TTC8 Gene

Proteins for TTC8 Gene

  • Protein details for TTC8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAM2-TTC8_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 8
    Protein Accession:
    Q8TAM2
    Secondary Accessions:
    • A6NFG2
    • B3KWA5
    • Q67B97
    • Q86SY0
    • Q86TV9
    • Q86U26
    • Q8NDH9
    • Q96DG8

    Protein attributes for TTC8 Gene

    Size:
    541 amino acids
    Molecular mass:
    61534 Da
    Quaternary structure:
    • Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with PCM1. Interacts with CCDC28B. Interacts with PKD1 (PubMed:24939912).
    SequenceCaution:
    • Sequence=CAD61928.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAD62360.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TTC8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTC8 Gene

Proteomics data for TTC8 Gene at MOPED

Post-translational modifications for TTC8 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys503, Lys516, and Lys532

No data available for DME Specific Peptides for TTC8 Gene

Domains for TTC8 Gene

Gene Families for TTC8 Gene

HGNC:
  • TTC :Tetratricopeptide (TTC) repeat domain containing

Protein Domains for TTC8 Gene

UniProtKB/Swiss-Prot:

TTC8_HUMAN
Similarity:
  • Contains 8 TPR repeats.:
    • Q8TAM2
genes like me logo Genes that share domains with TTC8: view

Function for TTC8 Gene

Molecular function for TTC8 Gene

UniProtKB/Swiss-Prot Function: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.

Gene Ontology (GO) - Molecular Function for TTC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001103 RNA polymerase II repressing transcription factor binding IPI 22302990
GO:0005515 protein binding IPI 14520415
genes like me logo Genes that share ontologies with TTC8: view
genes like me logo Genes that share phenotypes with TTC8: view

miRNA for TTC8 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TTC8 Gene

Localization for TTC8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC8 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TTC8 Gene COMPARTMENTS Subcellular localization image for TTC8 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 2
nucleus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TTC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005813 centrosome IDA 14520415
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane --
GO:0005929 cilium IDA 14520415
genes like me logo Genes that share ontologies with TTC8: view

Pathways for TTC8 Gene

SuperPathways for TTC8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0007411 axon guidance IEA --
GO:0007608 sensory perception of smell IEA --
GO:0015031 protein transport IEA --
GO:0021772 olfactory bulb development IEA --
genes like me logo Genes that share ontologies with TTC8: view

No data available for Pathways by source for TTC8 Gene

Transcripts for TTC8 Gene

Unigene Clusters for TTC8 Gene

Tetratricopeptide repeat domain 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TTC8 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - - - - -
SP6: - -
SP7: - - - - - - - - - - - - - - - - -
SP8: - -
SP9: - - -
SP10: - - - -
SP11: -
SP12: - -

ExUns: 19a · 19b · 19c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for TTC8 Gene

GeneLoc Exon Structure for
TTC8
ECgene alternative splicing isoforms for
TTC8

Expression for TTC8 Gene

mRNA expression in normal human tissues for TTC8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TTC8 Gene

SOURCE GeneReport for Unigene cluster for TTC8 Gene Hs.303055

mRNA Expression by UniProt/SwissProt for TTC8 Gene

Q8TAM2-TTC8_HUMAN
Tissue specificity: Widely expressed
genes like me logo Genes that share expressions with TTC8: view

Orthologs for TTC8 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTC8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC8 36
  • 99.48 (n)
  • 99.81 (a)
TTC8 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TTC8 36
  • 89.99 (n)
  • 93.84 (a)
TTC8 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTC8 36
  • 92.94 (n)
  • 95.73 (a)
TTC8 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttc8 36
  • 88.54 (n)
  • 95.34 (a)
Ttc8 16
Ttc8 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TTC8 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTC8 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttc8 36
  • 85.57 (n)
  • 92.24 (a)
chicken
(Gallus gallus)
Aves TTC8 36
  • 78.38 (n)
  • 83.11 (a)
TTC8 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC8 37
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc8 36
  • 75.31 (n)
  • 80.2 (a)
zebrafish
(Danio rerio)
Actinopterygii ttc8 36
  • 70.3 (n)
  • 76.63 (a)
ttc8 37
  • 76 (a)
OneToOne
wufk26c02 36
fruit fly
(Drosophila melanogaster)
Insecta BBS8 37
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea bbs-8 36
  • 50.51 (n)
  • 41.58 (a)
bbs-8 37
  • 40 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.492 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 60 (a)
OneToOne
Species with no ortholog for TTC8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TTC8 Gene

ENSEMBL:
Gene Tree for TTC8 (if available)
TreeFam:
Gene Tree for TTC8 (if available)

Paralogs for TTC8 Gene

Paralogs for TTC8 Gene

Selected SIMAP similar genes for TTC8 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with TTC8: view

Variants for TTC8 Gene

Sequence variations from dbSNP and Humsavar for TTC8 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs1013794 -- 88,847,401(-) GATAT(A/G)TTTGA intron-variant
rs1014022 -- 88,870,098(-) AACTT(C/T)TTTGT missense, reference
rs1048190 -- 88,877,648(+) ATCCT(A/G)AAACT utr-variant-3-prime
rs1287661 -- 88,822,523(+) TGCTA(C/G)TAAAA upstream-variant-2KB
rs1287662 -- 88,824,286(+) CGAGC(A/G)AATGG intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TTC8 Gene

Variant ID Type Subtype PubMed ID
nsv832850 CNV Gain+Loss 17160897

Relevant External Links for TTC8 Gene

HapMap Linkage Disequilibrium report
TTC8
Human Gene Mutation Database (HGMD)
TTC8

Disorders for TTC8 Gene

(2) OMIM Diseases for TTC8 Gene (608132)

UniProtKB/Swiss-Prot

TTC8_HUMAN
  • Retinitis pigmentosa 51 (RP51) [MIM:613464]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:14520415, ECO:0000269 PubMed:15489334, ECO:0000269 PubMed:17974005, ECO:0000269 PubMed:20451172, ECO:0000269 Ref.2, ECO:0000269 Ref.3, ECO:0000269 Ref.7}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Bardet-Biedl syndrome 8 (BBS8) [MIM:615985]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:14520415, ECO:0000269 PubMed:16308660}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for TTC8 Gene

(3) Novoseek inferred disease relationships for TTC8 Gene

Disease -log(P) Hits PubMed IDs
bardet-biedl syndrome 92 2
polydactyly 86.6 1
obesity 46.9 1

Relevant External Links for TTC8

GeneTests
TTC8
GeneReviews
TTC8
Genetic Association Database (GAD)
TTC8
Human Genome Epidemiology (HuGE) Navigator
TTC8
genes like me logo Genes that share disorders with TTC8: view

Publications for TTC8 Gene

  1. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. (PMID: 14520415) Ansley S.J. … Katsanis N. (Nature 2003) 2 3 4
  2. A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. (PMID: 20451172) Riazuddin S.A. … Katsanis N. (Am. J. Hum. Genet. 2010) 2 3 4
  3. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij J.C. … Florijn R.J. (Ophthalmology 2011) 3 49
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for TTC8 Gene

Sources for TTC8 Gene

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