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HUMAN:TTC8

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) TTC8 (synonyms: BBS8)
Protein Name(s) Tetratricopeptide repeat protein 8

TPR repeat protein 8 Bardet-Biedl syndrome 8 protein

External Links
UniProt Q8TAM2
EMBL AY366523
AY366524
BX161472
BX248071
BX248248
AY373972
AK124675
AL833901
AL121768
AL133238
CH471061
CH471061
BC001563
BC026351
BC095433
CCDS CCDS32137.1
RefSeq NP_001275710.1
NP_001275711.1
NP_001275712.1
NP_653197.2
NP_938051.1
NP_938052.1
XP_006720098.1
XP_006720100.1
UniGene Hs.303055
ProteinModelPortal Q8TAM2
SMR Q8TAM2
BioGrid 125811
DIP DIP-60359N
IntAct Q8TAM2
STRING 9606.ENSP00000370031
PhosphoSite Q8TAM2
DMDM 308153511
MaxQB Q8TAM2
PaxDb Q8TAM2
PRIDE Q8TAM2
Ensembl ENST00000338104
ENST00000345383
ENST00000346301
ENST00000354441
ENST00000358622
ENST00000380656
ENST00000536576
ENST00000614125
ENST00000622513
GeneID 123016
KEGG hsa:123016
UCSC uc001xxi.3
uc001xxk.3
uc001xxl.3
uc010atj.3
CTD 123016
GeneCards GC14P089290
GeneReviews TTC8
H-InvDB HIX0011874
HGNC HGNC:20087
HPA HPA003310
MIM 608132
613464
615985
neXtProt NX_Q8TAM2
Orphanet 110
791
PharmGKB PA134877629
eggNOG NOG276935
GeneTree ENSGT00530000063455
HOVERGEN HBG044570
InParanoid Q8TAM2
KO K16781
PhylomeDB Q8TAM2
TreeFam TF314892
GeneWiki TTC8
GenomeRNAi 123016
NextBio 81049
PRO PR:Q8TAM2
Proteomes UP000005640
Bgee Q8TAM2
CleanEx HS_TTC8
ExpressionAtlas Q8TAM2
Genevestigator Q8TAM2
GO GO:0034464
GO:0005813
GO:0036064
GO:0060170
GO:0005929
GO:0005737
GO:0001103
GO:0042384
GO:0048560
GO:0035058
GO:0015031
GO:0050893
Gene3D 1.25.40.10
InterPro IPR013026
IPR011990
IPR001440
IPR013105
IPR019734
IPR028796
PANTHER PTHR23083:SF39
Pfam PF00515
PF07719
PF13181
SMART SM00028
PROSITE PS50005
PS50293

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

involved_in

GO:0048560

establishment of anatomical structure orientation

PMID:14520415[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0036064

ciliary basal body

PMID:14520415[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0034464

BBSome

PMID:17574030[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005929

cilium

PMID:14520415[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005813

centrosome

PMID:14520415[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0034464

BBSome

PMID:24550735[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:1905515

non-motile cilium assembly

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000555997
WB:WBGene00000244

P

Seeded From UniProt

complete

part_of

GO:0097730

non-motile cilium

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000555997
WB:WBGene00000244

C

Seeded From UniProt

complete

part_of

GO:0036064

ciliary basal body

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000555997
UniProtKB:Q8TAM2
WB:WBGene00000244

C

Seeded From UniProt

complete

part_of

GO:0034464

BBSome

PMID:21873635[4]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1923510
PANTHER:PTN000555997
UniProtKB:Q8TAM2

C

Seeded From UniProt

complete

part_of

GO:0034464

BBSome

PMID:20080638[5]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0001103

RNA polymerase II repressing transcription factor binding

PMID:22302990[6]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q99496

F

Seeded From UniProt

complete

part_of

GO:0034464

BBSome

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR028796

C

Seeded From UniProt

complete

involved_in

GO:1905515

non-motile cilium assembly

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR028796

P

Seeded From UniProt

complete

involved_in

GO:0050893

sensory processing

PMID:14520415[1]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060271

cilium assembly

PMID:14520415[1]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

Reactome:R-HSA-5624129
Reactome:R-HSA-5624127
Reactome:R-HSA-5624126
Reactome:R-HSA-5624125
Reactome:R-HSA-5617815

ECO:0000304

author statement supported by traceable reference used in manual assertion





C

Seeded From UniProt

complete

involved_in

GO:0015031

protein transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0653

P

Seeded From UniProt

complete

part_of

GO:0005929

cilium

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0969
UniProtKB-SubCell:SL-0066

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0963
UniProtKB-SubCell:SL-0086

C

Seeded From UniProt

complete

part_of

GO:0042995

cell projection

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0966

C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

part_of

GO:0005856

cytoskeleton

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0206

C

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-1003

C

Seeded From UniProt

complete

involved_in

GO:0030030

cell projection organization

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0970

P

Seeded From UniProt

complete

part_of

GO:0060170

ciliary membrane

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0305

C

Seeded From UniProt

complete

part_of

GO:0005815

microtubule organizing center

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0048

C

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 Ansley, SJ et al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425 628-33 PubMed GONUTS page
  2. ↑ Nachury, MV et al. (2007) A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129 1201-13 PubMed GONUTS page
  3. ↑ Chamling, X et al. (2014) The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 10 e1004083 PubMed GONUTS page
  4. ↑ 4.0 4.1 4.2 4.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  5. ↑ Seo, S et al. (2010) BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc. Natl. Acad. Sci. U.S.A. 107 1488-93 PubMed GONUTS page
  6. ↑ Gascue, C et al. (2012) Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. J. Cell. Sci. 125 362-75 PubMed GONUTS page
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