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Q8TAM2 (TTC8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tetratricopeptide repeat protein 8

Short name=TPR repeat protein 8
Alternative name(s):
Bardet-Biedl syndrome 8 protein
Gene names
Name:TTC8
Synonyms:BBS8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length541 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.11 Ref.12

Subunit structure

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with PCM1. Interacts with CCDC28B. Ref.10 Ref.11 Ref.12

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cell projectioncilium membrane. Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite Ref.11 Ref.12.

Tissue specificity

Widely expressed.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2 Ref.3 Ref.5 Ref.7 Ref.8 Ref.13

Bardet-Biedl syndrome 8 (BBS8) [MIM:209900]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.9

Sequence similarities

Contains 8 TPR repeats.

Sequence caution

The sequence CAD61928.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

The sequence CAD62360.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
Protein transport
Transport
   Cellular componentCell membrane
Cell projection
Cilium
Cytoplasm
Cytoskeleton
Membrane
   Coding sequence diversityAlternative splicing
   DiseaseBardet-Biedl syndrome
Ciliopathy
Disease mutation
Mental retardation
Obesity
Retinitis pigmentosa
   DomainRepeat
TPR repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxon guidance

Inferred from electronic annotation. Source: Ensembl

camera-type eye photoreceptor cell differentiation

Inferred from electronic annotation. Source: Ensembl

cilium assembly

Traceable author statement Ref.1. Source: BHF-UCL

establishment of anatomical structure orientation

Inferred from mutant phenotype Ref.1. Source: BHF-UCL

fat cell differentiation

Inferred from electronic annotation. Source: Ensembl

multicellular organism growth

Inferred from electronic annotation. Source: Ensembl

olfactory bulb development

Inferred from electronic annotation. Source: Ensembl

protein transport

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of protein localization

Inferred from electronic annotation. Source: Ensembl

renal tubule development

Inferred from electronic annotation. Source: Ensembl

sensory perception of smell

Inferred from electronic annotation. Source: Ensembl

sensory processing

Traceable author statement Ref.1. Source: BHF-UCL

   Cellular_componentBBSome

Inferred from direct assay PubMed 24550735. Source: UniProtKB

centrosome

Inferred from direct assay Ref.1. Source: BHF-UCL

ciliary basal body

Inferred from direct assay Ref.1. Source: BHF-UCL

ciliary membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

cilium

Inferred from direct assay Ref.1. Source: BHF-UCL

cytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

photoreceptor connecting cilium

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionRNA polymerase II repressing transcription factor binding

Inferred from physical interaction PubMed 22302990. Source: MGI

protein binding

Inferred from physical interaction Ref.10PubMed 24550735. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

BBS9Q3SYG42EBI-2892638,EBI-2826852

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TAM2-1)

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.
Note: No experimental confirmation available.
Isoform 2 (identifier: Q8TAM2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     39-329: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8TAM2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     164-193: Missing.
     209-234: Missing.
Isoform 4 (identifier: Q8TAM2-4)

The sequence of this isoform differs from the canonical sequence as follows:
     209-234: Missing.
Isoform 5 (identifier: Q8TAM2-6)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 541541Tetratricopeptide repeat protein 8
PRO_0000106388

Regions

Repeat14 – 4734TPR 1
Repeat251 – 28434TPR 2
Repeat285 – 31733TPR 3
Repeat318 – 35134TPR 4
Repeat352 – 38534TPR 5
Repeat386 – 41934TPR 6
Repeat423 – 45634TPR 7
Repeat457 – 49034TPR 8

Natural variations

Alternative sequence39 – 329291Missing in isoform 2.
VSP_007821
Alternative sequence164 – 19330Missing in isoform 3.
VSP_007822
Alternative sequence194 – 1963ALF → VCT in isoform 5.
VSP_041151
Alternative sequence197 – 541345Missing in isoform 5.
VSP_041152
Alternative sequence209 – 23426Missing in isoform 3 and isoform 4.
VSP_007823
Natural variant38 – 4710Missing in RP51.
VAR_063705
Natural variant197 – 1982Missing in BBS8.
VAR_017247

Experimental info

Sequence conflict1771L → I in BAG54067. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 5, 2010. Version 2.
Checksum: 013CFB0FDEBF385B

FASTA54161,534
        10         20         30         40         50         60 
MSSEMEPLLL AWSYFRRRKF QLCADLCTQM LEKSPYDQEP DPELPVHQAA WILKARALTE 

        70         80         90        100        110        120 
MVYIDEIDVD QEGIAEMMLD ENAIAQVPRP GTSLKLPGTN QTGGPSQAVR PITQAGRPIT 

       130        140        150        160        170        180 
GFLRPSTQSG RPGTMEQAIR TPRTAYTARP ITSSSGRFVR LGTASMLTSP DGPFINLSRL 

       190        200        210        220        230        240 
NLTKYSQKPK LAKALFEYIF HHENDVKTIH LEDVVLHLGI YPFLLRNKNH IEKNALDLAA 

       250        260        270        280        290        300 
LSTEHSQYKD WWWKVQIGKC YYRLGMYREA EKQFKSALKQ QEMVDTFLYL AKVYVSLDQP 

       310        320        330        340        350        360 
VTALNLFKQG LDKFPGEVTL LCGIARIYEE MNNMSSAAEY YKEVLKQDNT HVEAIACIGS 

       370        380        390        400        410        420 
NHFYSDQPEI ALRFYRRLLQ MGIYNGQLFN NLGLCCFYAQ QYDMTLTSFE RALSLAENEE 

       430        440        450        460        470        480 
EAADVWYNLG HVAVGIGDTN LAHQCFRLAL VNNNNHAEAY NNLAVLEMRK GHVEQARALL 

       490        500        510        520        530        540 
QTASSLAPHM YEPHFNFATI SDKIGDLQRS YVAAQKSEAA FPDHVDTQHL IKQLRQHFAM 


L 

« Hide

Isoform 2 [UniParc].

Checksum: CBA3587C05459CF2
Show »

FASTA25028,704
Isoform 3 [UniParc].

Checksum: 7328CE9A99FC630B
Show »

FASTA48555,125
Isoform 4 [UniParc].

Checksum: 26ADB39CA21EA677
Show »

FASTA51558,427
Isoform 5 [UniParc].

Checksum: CCD7B057CE734AE8
Show »

FASTA19621,712

References

« Hide 'large scale' references
[1]"Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome."
Ansley S.J., Badano J.L., Blacque O.E., Hill J., Hoskins B.E., Leitch C.C., Kim J.C., Ross A.J., Eichers E.R., Teslovich T.M., Mah A.K., Johnsen R.C., Cavender J.C., Lewis R.A., Leroux M.R., Beales P.L., Katsanis N.
Nature 425:628-633(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT BBS8 197-GLU-TYR-198 DEL, VARIANT RP51 38-ASP--HIS-47 DEL.
[2]"Full-length cDNA libraries and normalization."
Li W.B., Gruber C., Jessee J., Polayes D.
Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 102-541 (ISOFORM 3), VARIANT RP51 38-ASP--HIS-47 DEL.
Tissue: Cervix carcinoma, Neuroblastoma and Placenta.
[3]"Mutations in BBS8, a novel gene containing TPR motifs causes Bardet-Biedl syndrome."
Smaoui N., Li S., Belghith N., Chaabouni M., M'Rad R., Maazoul F., Chaabouni H., Hejtmancik J.F.
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), VARIANT RP51 38-ASP--HIS-47 DEL.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Amygdala.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT RP51 38-ASP--HIS-47 DEL.
Tissue: Testis.
[6]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT RP51 38-ASP--HIS-47 DEL.
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), VARIANT RP51 38-ASP--HIS-47 DEL.
Tissue: Brain, Pituitary and Placenta.
[9]"BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families."
Stoetzel C., Laurier V., Faivre L., Megarbane A., Perrin-Schmitt F., Verloes A., Bonneau D., Mandel J.-L., Cossee M., Dollfus H.
J. Hum. Genet. 51:81-84(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN BBS8.
[10]"Dissection of epistasis in oligogenic Bardet-Biedl syndrome."
Badano J.L., Leitch C.C., Ansley S.J., May-Simera H., Lawson S., Lewis R.A., Beales P.L., Dietz H.C., Fisher S., Katsanis N.
Nature 439:326-330(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH CCDC28B.
[11]"A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis."
Nachury M.V., Loktev A.V., Zhang Q., Westlake C.J., Peraenen J., Merdes A., Slusarski D.C., Scheller R.H., Bazan J.F., Sheffield V.C., Jackson P.K.
Cell 129:1201-1213(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBUNIT, FUNCTION, SUBCELLULAR LOCATION.
[12]"A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."
Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C.
PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, FUNCTION OF THE BBSOME COMPLEX, IDENTIFICATION IN THE BBSOME COMPLEX, SUBCELLULAR LOCATION.
[13]"A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa."
Riazuddin S.A., Iqbal M., Wang Y., Masuda T., Chen Y., Bowne S., Sullivan L.S., Waseem N.H., Bhattacharya S., Daiger S.P., Zhang K., Khan S.N., Riazuddin S., Hejtmancik J.F., Sieving P.A., Zack D.J., Katsanis N.
Am. J. Hum. Genet. 86:805-812(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RP51 38-ASP--HIS-47 DEL.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS32137.1. [Q8TAM2-4]
RefSeqNP_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_006720037.1.
UniGeneHs.303055.

3D structure databases

ProteinModelPortalQ8TAM2.
SMRQ8TAM2. Positions 257-526.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125811. 1 interaction.
DIPDIP-60359N.
IntActQ8TAM2. 8 interactions.
STRING9606.ENSP00000370031.

PTM databases

PhosphoSiteQ8TAM2.

Polymorphism databases

DMDM308153511.

Proteomic databases

MaxQBQ8TAM2.
PaxDbQ8TAM2.
PRIDEQ8TAM2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000338104; ENSP00000337653; ENSG00000165533.
ENST00000345383; ENSP00000339486; ENSG00000165533.
ENST00000346301; ENSP00000298324; ENSG00000165533.
ENST00000354441; ENSP00000346427; ENSG00000165533. [Q8TAM2-2]
ENST00000358622; ENSP00000351439; ENSG00000165533.
ENST00000380656; ENSP00000370031; ENSG00000165533. [Q8TAM2-4]
GeneID123016.
KEGGhsa:123016.
UCSCuc001xxi.3. human. [Q8TAM2-4]
uc001xxk.3. human. [Q8TAM2-3]
uc001xxl.3. human. [Q8TAM2-1]
uc010atj.3. human. [Q8TAM2-2]

Organism-specific databases

CTD123016.
GeneCardsGC14P089290.
GeneReviewsTTC8.
H-InvDBHIX0011874.
HGNCHGNC:20087. TTC8.
HPAHPA003310.
MIM209900. phenotype.
608132. gene.
613464. phenotype.
neXtProtNX_Q8TAM2.
Orphanet110. Bardet-Biedl syndrome.
791. Retinitis pigmentosa.
PharmGKBPA134877629.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG276935.
HOVERGENHBG044570.
InParanoidQ8TAM2.
KOK16781.
PhylomeDBQ8TAM2.
TreeFamTF314892.

Gene expression databases

ArrayExpressQ8TAM2.
BgeeQ8TAM2.
CleanExHS_TTC8.
GenevestigatorQ8TAM2.

Family and domain databases

Gene3D1.25.40.10. 3 hits.
InterProIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
IPR028796. TTC8/BBS8.
[Graphical view]
PANTHERPTHR23083:SF39. PTHR23083:SF39. 1 hit.
PfamPF00515. TPR_1. 1 hit.
PF07719. TPR_2. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view]
SMARTSM00028. TPR. 6 hits.
[Graphical view]
PROSITEPS50005. TPR. 6 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTTC8.
GenomeRNAi123016.
NextBio81049.
PROQ8TAM2.
SOURCESearch...

Entry information

Entry nameTTC8_HUMAN
AccessionPrimary (citable) accession number: Q8TAM2
Secondary accession number(s): A6NFG2 expand/collapse secondary AC list , B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q96DG8
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2003
Last sequence update: October 5, 2010
Last modified: July 9, 2014
This is version 124 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM