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Q8TAM2

- TTC8_HUMAN

UniProt

Q8TAM2 - TTC8_HUMAN

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Protein

Tetratricopeptide repeat protein 8

Gene
TTC8, BBS8
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. RNA polymerase II repressing transcription factor binding Source: MGI

GO - Biological processi

  1. axon guidance Source: Ensembl
  2. camera-type eye photoreceptor cell differentiation Source: Ensembl
  3. cilium assembly Source: BHF-UCL
  4. establishment of anatomical structure orientation Source: BHF-UCL
  5. fat cell differentiation Source: Ensembl
  6. multicellular organism growth Source: Ensembl
  7. nonmotile primary cilium assembly Source: InterPro
  8. olfactory bulb development Source: Ensembl
  9. protein transport Source: UniProtKB-KW
  10. regulation of protein localization Source: Ensembl
  11. renal tubule development Source: Ensembl
  12. sensory perception of smell Source: Ensembl
  13. sensory processing Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 8
Short name:
TPR repeat protein 8
Alternative name(s):
Bardet-Biedl syndrome 8 protein
Gene namesi
Name:TTC8
Synonyms:BBS8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:20087. TTC8.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cell projectioncilium membrane. Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite 2 Publications

GO - Cellular componenti

  1. BBSome Source: UniProtKB
  2. centrosome Source: BHF-UCL
  3. ciliary basal body Source: BHF-UCL
  4. ciliary membrane Source: UniProtKB-SubCell
  5. cilium Source: BHF-UCL
  6. cytoplasm Source: UniProtKB-SubCell
  7. photoreceptor connecting cilium Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

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.7 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 4710Missing in RP51.
VAR_063705
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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti197 – 1982Missing in BBS8.
VAR_017247

Keywords - Diseasei

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

Organism-specific databases

MIMi209900. phenotype.
613464. phenotype.
Orphaneti110. Bardet-Biedl syndrome.
791. Retinitis pigmentosa.
PharmGKBiPA134877629.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 541541Tetratricopeptide repeat protein 8PRO_0000106388Add
BLAST

Proteomic databases

MaxQBiQ8TAM2.
PaxDbiQ8TAM2.
PRIDEiQ8TAM2.

PTM databases

PhosphoSiteiQ8TAM2.

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

ArrayExpressiQ8TAM2.
BgeeiQ8TAM2.
CleanExiHS_TTC8.
GenevestigatoriQ8TAM2.

Organism-specific databases

HPAiHPA003310.

Interactioni

Subunit structurei

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with PCM1. Interacts with CCDC28B.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BBS9Q3SYG42EBI-2892638,EBI-2826852

Protein-protein interaction databases

BioGridi125811. 1 interaction.
DIPiDIP-60359N.
IntActiQ8TAM2. 8 interactions.
STRINGi9606.ENSP00000370031.

Structurei

3D structure databases

ProteinModelPortaliQ8TAM2.
SMRiQ8TAM2. Positions 257-526.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati14 – 4734TPR 1Add
BLAST
Repeati251 – 28434TPR 2Add
BLAST
Repeati285 – 31733TPR 3Add
BLAST
Repeati318 – 35134TPR 4Add
BLAST
Repeati352 – 38534TPR 5Add
BLAST
Repeati386 – 41934TPR 6Add
BLAST
Repeati423 – 45634TPR 7Add
BLAST
Repeati457 – 49034TPR 8Add
BLAST

Sequence similaritiesi

Contains 8 TPR repeats.

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiNOG276935.
HOVERGENiHBG044570.
InParanoidiQ8TAM2.
KOiK16781.
PhylomeDBiQ8TAM2.
TreeFamiTF314892.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
IPR028796. TTC8/BBS8.
[Graphical view]
PANTHERiPTHR23083:SF39. PTHR23083:SF39. 1 hit.
PfamiPF00515. TPR_1. 1 hit.
PF07719. TPR_2. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 6 hits.
[Graphical view]
PROSITEiPS50005. TPR. 6 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

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

MSSEMEPLLL AWSYFRRRKF QLCADLCTQM LEKSPYDQEP DPELPVHQAA    50
WILKARALTE MVYIDEIDVD QEGIAEMMLD ENAIAQVPRP GTSLKLPGTN 100
QTGGPSQAVR PITQAGRPIT GFLRPSTQSG RPGTMEQAIR TPRTAYTARP 150
ITSSSGRFVR LGTASMLTSP DGPFINLSRL NLTKYSQKPK LAKALFEYIF 200
HHENDVKTIH LEDVVLHLGI YPFLLRNKNH IEKNALDLAA LSTEHSQYKD 250
WWWKVQIGKC YYRLGMYREA EKQFKSALKQ QEMVDTFLYL AKVYVSLDQP 300
VTALNLFKQG LDKFPGEVTL LCGIARIYEE MNNMSSAAEY YKEVLKQDNT 350
HVEAIACIGS NHFYSDQPEI ALRFYRRLLQ MGIYNGQLFN NLGLCCFYAQ 400
QYDMTLTSFE RALSLAENEE EAADVWYNLG HVAVGIGDTN LAHQCFRLAL 450
VNNNNHAEAY NNLAVLEMRK GHVEQARALL QTASSLAPHM YEPHFNFATI 500
SDKIGDLQRS YVAAQKSEAA FPDHVDTQHL IKQLRQHFAM L 541

Note: No experimental confirmation available.

Length:541
Mass (Da):61,534
Last modified:October 5, 2010 - v2
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

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 4710Missing in RP51.
VAR_063705
Natural varianti197 – 1982Missing in BBS8.
VAR_017247

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei39 – 329291Missing in isoform 2. VSP_007821Add
BLAST
Alternative sequencei164 – 19330Missing in isoform 3. VSP_007822Add
BLAST
Alternative sequencei194 – 1963ALF → VCT in isoform 5. VSP_041151
Alternative sequencei197 – 541345Missing in isoform 5. VSP_041152Add
BLAST
Alternative sequencei209 – 23426Missing in isoform 3 and isoform 4. VSP_007823Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti177 – 1771L → I in BAG54067. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006720037.1.
UniGeneiHs.303055.

Genome annotation databases

EnsembliENST00000338104; ENSP00000337653; ENSG00000165533.
ENST00000345383; ENSP00000339486; ENSG00000165533.
ENST00000346301; ENSP00000298324; ENSG00000165533.
ENST00000354441; ENSP00000346427; ENSG00000165533. [Q8TAM2-2]
ENST00000358622; ENSP00000351439; ENSG00000165533.
ENST00000380656; ENSP00000370031; ENSG00000165533. [Q8TAM2-4]
GeneIDi123016.
KEGGihsa:123016.
UCSCiuc001xxi.3. human. [Q8TAM2-4]
uc001xxk.3. human. [Q8TAM2-3]
uc001xxl.3. human. [Q8TAM2-1]
uc010atj.3. human. [Q8TAM2-2]

Polymorphism databases

DMDMi308153511.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS32137.1. [Q8TAM2-4 ]
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_006720037.1.
UniGenei Hs.303055.

3D structure databases

ProteinModelPortali Q8TAM2.
SMRi Q8TAM2. Positions 257-526.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125811. 1 interaction.
DIPi DIP-60359N.
IntActi Q8TAM2. 8 interactions.
STRINGi 9606.ENSP00000370031.

PTM databases

PhosphoSitei Q8TAM2.

Polymorphism databases

DMDMi 308153511.

Proteomic databases

MaxQBi Q8TAM2.
PaxDbi Q8TAM2.
PRIDEi Q8TAM2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000338104 ; ENSP00000337653 ; ENSG00000165533 .
ENST00000345383 ; ENSP00000339486 ; ENSG00000165533 .
ENST00000346301 ; ENSP00000298324 ; ENSG00000165533 .
ENST00000354441 ; ENSP00000346427 ; ENSG00000165533 . [Q8TAM2-2 ]
ENST00000358622 ; ENSP00000351439 ; ENSG00000165533 .
ENST00000380656 ; ENSP00000370031 ; ENSG00000165533 . [Q8TAM2-4 ]
GeneIDi 123016.
KEGGi hsa:123016.
UCSCi uc001xxi.3. human. [Q8TAM2-4 ]
uc001xxk.3. human. [Q8TAM2-3 ]
uc001xxl.3. human. [Q8TAM2-1 ]
uc010atj.3. human. [Q8TAM2-2 ]

Organism-specific databases

CTDi 123016.
GeneCardsi GC14P089290.
GeneReviewsi TTC8.
H-InvDB HIX0011874.
HGNCi HGNC:20087. TTC8.
HPAi HPA003310.
MIMi 209900. phenotype.
608132. gene.
613464. phenotype.
neXtProti NX_Q8TAM2.
Orphaneti 110. Bardet-Biedl syndrome.
791. Retinitis pigmentosa.
PharmGKBi PA134877629.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG276935.
HOVERGENi HBG044570.
InParanoidi Q8TAM2.
KOi K16781.
PhylomeDBi Q8TAM2.
TreeFami TF314892.

Miscellaneous databases

GeneWikii TTC8.
GenomeRNAii 123016.
NextBioi 81049.
PROi Q8TAM2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8TAM2.
Bgeei Q8TAM2.
CleanExi HS_TTC8.
Genevestigatori Q8TAM2.

Family and domain databases

Gene3Di 1.25.40.10. 3 hits.
InterProi IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
IPR028796. TTC8/BBS8.
[Graphical view ]
PANTHERi PTHR23083:SF39. PTHR23083:SF39. 1 hit.
Pfami PF00515. TPR_1. 1 hit.
PF07719. TPR_2. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view ]
SMARTi SM00028. TPR. 6 hits.
[Graphical view ]
PROSITEi PS50005. TPR. 6 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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. 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.
    , 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. 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. Cited for: INVOLVEMENT IN BBS8.
  10. 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. Cited for: VARIANT RP51 38-ASP--HIS-47 DEL.

Entry informationi

Entry nameiTTC8_HUMAN
AccessioniPrimary (citable) accession number: Q8TAM2
Secondary accession number(s): A6NFG2
, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q96DG8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2003
Last sequence update: October 5, 2010
Last modified: September 3, 2014
This is version 125 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3

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