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Entry version 168 (10 Apr 2019)
Sequence version 2 (05 Oct 2010)
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Protein

Tetratricopeptide repeat protein 8

Gene

TTC8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation, Protein transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5620922 BBSome-mediated cargo-targeting to cilium

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Tetratricopeptide repeat protein 8
Short name:
TPR repeat protein 8
Alternative name(s):
Bardet-Biedl syndrome 8 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TTC8
Synonyms:BBS8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000165533.18

Human Gene Nomenclature Database

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HGNCi
HGNC:20087 TTC8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608132 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TAM2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 51 (RP51)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613464
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06370538 – 47Missing in RP51. 10
Bardet-Biedl syndrome 8 (BBS8)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615985
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017247197 – 198Missing in BBS8. 1 Publication2

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
123016

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
TTC8

MalaCards human disease database

More...
MalaCardsi
TTC8
MIMi613464 phenotype
615985 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000165533

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
110 Bardet-Biedl syndrome
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134877629

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TTC8

Domain mapping of disease mutations (DMDM)

More...
DMDMi
308153511

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001063881 – 541Tetratricopeptide repeat protein 8Add BLAST541

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8TAM2

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8TAM2

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8TAM2

PeptideAtlas

More...
PeptideAtlasi
Q8TAM2

PRoteomics IDEntifications database

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PRIDEi
Q8TAM2

ProteomicsDB human proteome resource

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ProteomicsDBi
73893
73894 [Q8TAM2-2]
73895 [Q8TAM2-3]
73896 [Q8TAM2-4]
73897 [Q8TAM2-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TAM2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8TAM2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000165533 Expressed in 192 organ(s), highest expression level in right ovary

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8TAM2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8TAM2 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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).4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
125811, 11 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1908 BBSome complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8TAM2

Database of interacting proteins

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DIPi
DIP-60359N

Protein interaction database and analysis system

More...
IntActi
Q8TAM2, 13 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000482306

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q8TAM2

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8TAM2

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati14 – 47TPR 1Add BLAST34
Repeati251 – 284TPR 2Add BLAST34
Repeati285 – 317TPR 3Add BLAST33
Repeati318 – 351TPR 4Add BLAST34
Repeati352 – 385TPR 5Add BLAST34
Repeati386 – 419TPR 6Add BLAST34
Repeati423 – 456TPR 7Add BLAST34
Repeati457 – 490TPR 8Add BLAST34

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1129 Eukaryota
ENOG410Z814 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156816

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG044570

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8TAM2

KEGG Orthology (KO)

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KOi
K16781

Database of Orthologous Groups

More...
OrthoDBi
637646at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TAM2

TreeFam database of animal gene trees

More...
TreeFami
TF314892

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.10, 3 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR028796 BBS8
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat

The PANTHER Classification System

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PANTHERi
PTHR44177 PTHR44177, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13176 TPR_7, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00028 TPR, 8 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48452 SSF48452, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50005 TPR, 6 hits
PS50293 TPR_REGION, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TAM2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSSEMEPLLL AWSYFRRRKF QLCADLCTQM LEKSPYDQEP DPELPVHQAA
60 70 80 90 100
WILKARALTE MVYIDEIDVD QEGIAEMMLD ENAIAQVPRP GTSLKLPGTN
110 120 130 140 150
QTGGPSQAVR PITQAGRPIT GFLRPSTQSG RPGTMEQAIR TPRTAYTARP
160 170 180 190 200
ITSSSGRFVR LGTASMLTSP DGPFINLSRL NLTKYSQKPK LAKALFEYIF
210 220 230 240 250
HHENDVKTIH LEDVVLHLGI YPFLLRNKNH IEKNALDLAA LSTEHSQYKD
260 270 280 290 300
WWWKVQIGKC YYRLGMYREA EKQFKSALKQ QEMVDTFLYL AKVYVSLDQP
310 320 330 340 350
VTALNLFKQG LDKFPGEVTL LCGIARIYEE MNNMSSAAEY YKEVLKQDNT
360 370 380 390 400
HVEAIACIGS NHFYSDQPEI ALRFYRRLLQ MGIYNGQLFN NLGLCCFYAQ
410 420 430 440 450
QYDMTLTSFE RALSLAENEE EAADVWYNLG HVAVGIGDTN LAHQCFRLAL
460 470 480 490 500
VNNNNHAEAY NNLAVLEMRK GHVEQARALL QTASSLAPHM YEPHFNFATI
510 520 530 540
SDKIGDLQRS YVAAQKSEAA FPDHVDTQHL IKQLRQHFAM L
Note: No experimental confirmation available.
Length:541
Mass (Da):61,534
Last modified:October 5, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i013CFB0FDEBF385B
GO
Isoform 2 (identifier: Q8TAM2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     39-329: Missing.

Note: No experimental confirmation available.
Show »
Length:250
Mass (Da):28,704
Checksum:iCBA3587C05459CF2
GO
Isoform 3 (identifier: Q8TAM2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     164-193: Missing.
     209-234: Missing.

Show »
Length:485
Mass (Da):55,125
Checksum:i7328CE9A99FC630B
GO
Isoform 4 (identifier: Q8TAM2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     209-234: Missing.

Show »
Length:515
Mass (Da):58,427
Checksum:i26ADB39CA21EA677
GO
Isoform 5 (identifier: Q8TAM2-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     194-196: ALF → VCT
     197-541: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.
Show »
Length:196
Mass (Da):21,712
Checksum:iCCD7B057CE734AE8
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DGX9A0A0C4DGX9_HUMAN
Tetratricopeptide repeat domain 8 i...
TTC8 hCG_21081
531Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DFT4A0A0C4DFT4_HUMAN
Tetratricopeptide repeat domain 8, ...
TTC8 hCG_21081
317Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DGY3A0A0C4DGY3_HUMAN
Tetratricopeptide repeat domain 8 i...
TTC8
505Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJX0H0YJX0_HUMAN
Tetratricopeptide repeat protein 8
TTC8
437Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJQ3H0YJQ3_HUMAN
Tetratricopeptide repeat protein 8
TTC8
265Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DGH8A0A0C4DGH8_HUMAN
Tetratricopeptide repeat domain 8 i...
TTC8 hCG_21081
475Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q86U25Q86U25_HUMAN
Full-length cDNA clone CS0DA007YG23...
TTC8 hCG_21081
211Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V324G3V324_HUMAN
Tetratricopeptide repeat protein 8
TTC8
192Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V2Z9G3V2Z9_HUMAN
Tetratricopeptide repeat protein 8
TTC8
186Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V2W6G3V2W6_HUMAN
Tetratricopeptide repeat protein 8
TTC8
41Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAD61928 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence CAD62360 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti177L → I in BAG54067 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06370538 – 47Missing in RP51. 10
Natural variantiVAR_017247197 – 198Missing in BBS8. 1 Publication2

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00782139 – 329Missing in isoform 2. 1 PublicationAdd BLAST291
Alternative sequenceiVSP_007822164 – 193Missing in isoform 3. 3 PublicationsAdd BLAST30
Alternative sequenceiVSP_041151194 – 196ALF → VCT in isoform 5. 1 Publication3
Alternative sequenceiVSP_041152197 – 541Missing in isoform 5. 1 PublicationAdd BLAST345
Alternative sequenceiVSP_007823209 – 234Missing in isoform 3 and isoform 4. 6 PublicationsAdd BLAST26

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY366523 mRNA Translation: AAR02192.1
AY366524 mRNA Translation: AAR02193.1
BX161472 mRNA Translation: CAD61928.1 Sequence problems.
BX248071 mRNA Translation: CAD62360.1 Different initiation.
BX248248 mRNA Translation: CAD62576.1
AY373972 mRNA Translation: AAR19043.1
AK124675 mRNA Translation: BAG54067.1
AL833901 mRNA Translation: CAD38757.2
AL121768 Genomic DNA No translation available.
AL133238 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81400.1
CH471061 Genomic DNA Translation: EAW81402.1
BC001563 mRNA Translation: AAH01563.1
BC026351 mRNA Translation: AAH26351.1
BC095433 mRNA Translation: AAH95433.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS32137.1 [Q8TAM2-4]

NCBI Reference Sequences

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RefSeqi
NP_001275710.1, NM_001288781.1
NP_001275711.1, NM_001288782.1
NP_001275712.1, NM_001288783.1
NP_653197.2, NM_144596.3 [Q8TAM2-4]
NP_938051.1, NM_198309.3
NP_938052.1, NM_198310.3
XP_006720098.1, XM_006720035.1
XP_006720100.1, XM_006720037.2
XP_011534734.1, XM_011536432.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.303055

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000345383; ENSP00000339486; ENSG00000165533 [Q8TAM2-4]
ENST00000354441; ENSP00000346427; ENSG00000165533 [Q8TAM2-2]
ENST00000380656; ENSP00000370031; ENSG00000165533 [Q8TAM2-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
123016

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:123016

UCSC genome browser

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UCSCi
uc001xxi.5 human [Q8TAM2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY366523 mRNA Translation: AAR02192.1
AY366524 mRNA Translation: AAR02193.1
BX161472 mRNA Translation: CAD61928.1 Sequence problems.
BX248071 mRNA Translation: CAD62360.1 Different initiation.
BX248248 mRNA Translation: CAD62576.1
AY373972 mRNA Translation: AAR19043.1
AK124675 mRNA Translation: BAG54067.1
AL833901 mRNA Translation: CAD38757.2
AL121768 Genomic DNA No translation available.
AL133238 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81400.1
CH471061 Genomic DNA Translation: EAW81402.1
BC001563 mRNA Translation: AAH01563.1
BC026351 mRNA Translation: AAH26351.1
BC095433 mRNA Translation: AAH95433.1
CCDSiCCDS32137.1 [Q8TAM2-4]
RefSeqiNP_001275710.1, NM_001288781.1
NP_001275711.1, NM_001288782.1
NP_001275712.1, NM_001288783.1
NP_653197.2, NM_144596.3 [Q8TAM2-4]
NP_938051.1, NM_198309.3
NP_938052.1, NM_198310.3
XP_006720098.1, XM_006720035.1
XP_006720100.1, XM_006720037.2
XP_011534734.1, XM_011536432.1
UniGeneiHs.303055

3D structure databases

ProteinModelPortaliQ8TAM2
SMRiQ8TAM2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125811, 11 interactors
ComplexPortaliCPX-1908 BBSome complex
CORUMiQ8TAM2
DIPiDIP-60359N
IntActiQ8TAM2, 13 interactors
STRINGi9606.ENSP00000482306

PTM databases

iPTMnetiQ8TAM2
PhosphoSitePlusiQ8TAM2

Polymorphism and mutation databases

BioMutaiTTC8
DMDMi308153511

Proteomic databases

jPOSTiQ8TAM2
MaxQBiQ8TAM2
PaxDbiQ8TAM2
PeptideAtlasiQ8TAM2
PRIDEiQ8TAM2
ProteomicsDBi73893
73894 [Q8TAM2-2]
73895 [Q8TAM2-3]
73896 [Q8TAM2-4]
73897 [Q8TAM2-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000345383; ENSP00000339486; ENSG00000165533 [Q8TAM2-4]
ENST00000354441; ENSP00000346427; ENSG00000165533 [Q8TAM2-2]
ENST00000380656; ENSP00000370031; ENSG00000165533 [Q8TAM2-4]
GeneIDi123016
KEGGihsa:123016
UCSCiuc001xxi.5 human [Q8TAM2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
123016
DisGeNETi123016
EuPathDBiHostDB:ENSG00000165533.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TTC8
GeneReviewsiTTC8

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0011874
HGNCiHGNC:20087 TTC8
MalaCardsiTTC8
MIMi608132 gene
613464 phenotype
615985 phenotype
neXtProtiNX_Q8TAM2
OpenTargetsiENSG00000165533
Orphaneti110 Bardet-Biedl syndrome
791 Retinitis pigmentosa
PharmGKBiPA134877629

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1129 Eukaryota
ENOG410Z814 LUCA
GeneTreeiENSGT00940000156816
HOVERGENiHBG044570
InParanoidiQ8TAM2
KOiK16781
OrthoDBi637646at2759
PhylomeDBiQ8TAM2
TreeFamiTF314892

Enzyme and pathway databases

ReactomeiR-HSA-5620922 BBSome-mediated cargo-targeting to cilium

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TTC8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
123016

Protein Ontology

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PROi
PR:Q8TAM2

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165533 Expressed in 192 organ(s), highest expression level in right ovary
ExpressionAtlasiQ8TAM2 baseline and differential
GenevisibleiQ8TAM2 HS

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR028796 BBS8
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PANTHERiPTHR44177 PTHR44177, 1 hit
PfamiView protein in Pfam
PF13176 TPR_7, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 8 hits
SUPFAMiSSF48452 SSF48452, 2 hits
PROSITEiView protein in PROSITE
PS50005 TPR, 6 hits
PS50293 TPR_REGION, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTTC8_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TAM2
Secondary accession number(s): A6NFG2
, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q96DG8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2003
Last sequence update: October 5, 2010
Last modified: April 10, 2019
This is version 168 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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