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Q13099

- IFT88_HUMAN

UniProt

Q13099 - IFT88_HUMAN

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Protein

Intraflagellar transport protein 88 homolog

Gene
IFT88, TG737, TTC10
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment By similarity.

GO - Biological processi

  1. anterior/posterior pattern specification Source: Ensembl
  2. cardiac septum morphogenesis Source: Ensembl
  3. cilium morphogenesis Source: UniProtKB
  4. determination of left/right symmetry Source: Ensembl
  5. embryonic digit morphogenesis Source: Ensembl
  6. embryonic organ development Source: Ensembl
  7. epithelial cell morphogenesis Source: Ensembl
  8. eye development Source: Ensembl
  9. forebrain morphogenesis Source: Ensembl
  10. in utero embryonic development Source: Ensembl
  11. lung vasculature development Source: Ensembl
  12. palate development Source: Ensembl
  13. positive regulation of proteolysis Source: Ensembl
  14. protein localization Source: Ensembl
  15. protein processing Source: Ensembl
  16. regulation of autophagic vacuole assembly Source: UniProtKB
  17. regulation of cilium assembly Source: UniProtKB
  18. regulation of odontogenesis of dentin-containing tooth Source: Ensembl
  19. smoothened signaling pathway Source: Ensembl
  20. spinal cord dorsal/ventral patterning Source: Ensembl
  21. telencephalon development Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Intraflagellar transport protein 88 homolog
Alternative name(s):
Recessive polycystic kidney disease protein Tg737 homolog
Tetratricopeptide repeat protein 10
Short name:
TPR repeat protein 10
Gene namesi
Name:IFT88
Synonyms:TG737, TTC10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:20606. IFT88.

Subcellular locationi

GO - Cellular componenti

  1. apical part of cell Source: Ensembl
  2. axoneme Source: Ensembl
  3. centriole Source: UniProtKB
  4. ciliary basal body Source: UniProtKB
  5. cilium Source: UniProtKB
  6. intraciliary transport particle B Source: BHF-UCL
  7. motile cilium Source: BHF-UCL
  8. motile primary cilium Source: Ensembl
  9. photoreceptor connecting cilium Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

Orphaneti474. Jeune syndrome.
564. Meckel syndrome.
PharmGKBiPA134991804.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 833833Intraflagellar transport protein 88 homologPRO_0000106391Add
BLAST

Proteomic databases

MaxQBiQ13099.
PaxDbiQ13099.
PRIDEiQ13099.

PTM databases

PhosphoSiteiQ13099.

Expressioni

Tissue specificityi

Expressed in the heart, brain, liver, lung, kidney, skeletal muscle and pancreas.1 Publication

Gene expression databases

ArrayExpressiQ13099.
BgeeiQ13099.
CleanExiHS_IFT88.
GenevestigatoriQ13099.

Organism-specific databases

HPAiHPA040731.

Interactioni

Subunit structurei

Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT20, IFT22, HSPB11, IFT27, IFT46, IFT52, TRAF3IP1, IFT57, IFT74, IFT80, IFT81, IFT88 AND IFT172 By similarity.

Protein-protein interaction databases

BioGridi113771. 4 interactions.
IntActiQ13099. 3 interactions.
STRINGi9606.ENSP00000323580.

Structurei

3D structure databases

ProteinModelPortaliQ13099.
SMRiQ13099. Positions 210-341, 429-695.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati206 – 23934TPR 1Add
BLAST
Repeati242 – 27534TPR 2Add
BLAST
Repeati281 – 31434TPR 3Add
BLAST
Repeati316 – 34732TPR 4Add
BLAST
Repeati424 – 45734TPR 5Add
BLAST
Repeati459 – 49234TPR 6Add
BLAST
Repeati493 – 52634TPR 7Add
BLAST
Repeati527 – 56034TPR 8Add
BLAST
Repeati561 – 59434TPR 9Add
BLAST
Repeati595 – 62834TPR 10Add
BLAST
Repeati629 – 66234TPR 11Add
BLAST
Repeati663 – 69634TPR 12Add
BLAST

Sequence similaritiesi

Contains 12 TPR repeats.

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiCOG0457.
HOGENOMiHOG000258203.
HOVERGENiHBG059328.
InParanoidiQ13099.
KOiK16474.
OMAiLILCYYA.
OrthoDBiEOG7N37D5.
PhylomeDBiQ13099.
TreeFamiTF313218.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR006597. Sel1-like.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF00515. TPR_1. 4 hits.
PF07719. TPR_2. 1 hit.
PF13174. TPR_6. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view]
SMARTiSM00671. SEL1. 4 hits.
SM00028. TPR. 7 hits.
[Graphical view]
PROSITEiPS50005. TPR. 9 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q13099-1) [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

MKFTNTKVQM MQNVHLAPET DEDDLYSGYN DYNPIYDIEE LENDAAFQQA    50
VRTSHGRRPP ITAKISSTAV TRPIATGYGS KTSLASSIGR PMTGAIQDGV 100
TRPMTAVRAA GFTKAALRGS AFDPLSQSRG PASPLEAKKK DSPEEKIKQL 150
EKEVNELVEE SCIANSCGDL KLALEKAKDA GRKERVLVRQ REQVTTPENI 200
NLDLTYSVLF NLASQYSVNE MYAEALNTYQ VIVKNKMFSN AGILKMNMGN 250
IYLKQRNYSK AIKFYRMALD QVPSVNKQMR IKIMQNIGVT FIQAGQYSDA 300
INSYEHIMSM APNLKAGYNL TICYFAIGDR EKMKKAFQKL ITVPLEIDED 350
KYISPSDDPH TNLVTEAIKN DHLRQMERER KAMAEKYIMT SAKLIAPVIE 400
TSFAAGYDWC VEVVKASQYV ELANDLEINK AVTYLRQKDY NQAVEILKVL 450
EKKDSRVKSA AATNLSALYY MGKDFAQASS YADIAVNSDR YNPAALTNKG 500
NTVFANGDYE KAAEFYKEAL RNDSSCTEAL YNIGLTYEKL NRLDEALDCF 550
LKLHAILRNS AEVLYQIANI YELMENPSQA IEWLMQVVSV IPTDPQVLSK 600
LGELYDREGD KSQAFQYYYE SYRYFPCNIE VIEWLGAYYI DTQFWEKAIQ 650
YFERASLIQP TQVKWQLMVA SCFRRSGNYQ KALDTYKDTH RKFPENVECL 700
RFLVRLCTDL GLKDAQEYAR KLKRLEKMKE IREQRIKSGR DGSGGSRGKR 750
EGSASGDSGQ NYSASSKGER LSARLRALPG TNEPYESSSN KEIDASYVDP 800
LGPQIERPKT AAKKRIDEDD FADEELGDDL LPE 833
Length:833
Mass (Da):94,270
Last modified:September 23, 2008 - v2
Checksum:i383887C9D79AF0DA
GO
Isoform 2 (identifier: Q13099-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: Missing.

Show »
Length:824
Mass (Da):93,192
Checksum:i12E30169CFC5476B
GO
Isoform 3 (identifier: Q13099-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     61-79: Missing.

Note: No experimental confirmation available.

Show »
Length:814
Mass (Da):92,381
Checksum:iB5364A6022DC66F3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti383 – 3831M → I.1 Publication
Corresponds to variant rs2442455 [ dbSNP | Ensembl ].
VAR_046464
Natural varianti455 – 4551S → N.1 Publication
Corresponds to variant rs9509307 [ dbSNP | Ensembl ].
VAR_046465
Natural varianti671 – 6711S → G.
Corresponds to variant rs9552254 [ dbSNP | Ensembl ].
VAR_046466

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 99Missing in isoform 2. VSP_035429
Alternative sequencei61 – 7919Missing in isoform 3. VSP_040620Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti210 – 2101F → S in AAA86720. 1 Publication
Sequence conflicti335 – 3351K → E in AAH30776. 1 Publication
Sequence conflicti388 – 3881I → V in AAH30776. 1 Publication
Sequence conflicti389 – 3891M → T in AAA86720. 1 Publication
Sequence conflicti407 – 4071Y → C in AAA86720. 1 Publication
Sequence conflicti608 – 6081E → G in AAH30776. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U20362 mRNA. Translation: AAA86720.1.
AK300769 mRNA. Translation: BAG62434.1.
AL161772, AL590096 Genomic DNA. Translation: CAM13405.1.
AL590096, AL161772 Genomic DNA. Translation: CAM20430.1.
AL161772, AL590096 Genomic DNA. Translation: CAH70874.2.
AL590096, AL161772 Genomic DNA. Translation: CAI14390.2.
CH471075 Genomic DNA. Translation: EAX08272.1.
BC030776 mRNA. Translation: AAH30776.2.
CCDSiCCDS31944.1. [Q13099-1]
CCDS31945.1. [Q13099-2]
RefSeqiNP_006522.2. NM_006531.3. [Q13099-2]
NP_783195.2. NM_175605.3. [Q13099-1]
XP_005266610.1. XM_005266553.1. [Q13099-1]
XP_006719932.1. XM_006719869.1. [Q13099-2]
XP_006719933.1. XM_006719870.1. [Q13099-2]
UniGeneiHs.187376.

Genome annotation databases

EnsembliENST00000319980; ENSP00000323580; ENSG00000032742. [Q13099-1]
ENST00000351808; ENSP00000261632; ENSG00000032742. [Q13099-2]
GeneIDi8100.
KEGGihsa:8100.
UCSCiuc001unh.3. human. [Q13099-1]

Polymorphism databases

DMDMi206729873.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U20362 mRNA. Translation: AAA86720.1 .
AK300769 mRNA. Translation: BAG62434.1 .
AL161772 , AL590096 Genomic DNA. Translation: CAM13405.1 .
AL590096 , AL161772 Genomic DNA. Translation: CAM20430.1 .
AL161772 , AL590096 Genomic DNA. Translation: CAH70874.2 .
AL590096 , AL161772 Genomic DNA. Translation: CAI14390.2 .
CH471075 Genomic DNA. Translation: EAX08272.1 .
BC030776 mRNA. Translation: AAH30776.2 .
CCDSi CCDS31944.1. [Q13099-1 ]
CCDS31945.1. [Q13099-2 ]
RefSeqi NP_006522.2. NM_006531.3. [Q13099-2 ]
NP_783195.2. NM_175605.3. [Q13099-1 ]
XP_005266610.1. XM_005266553.1. [Q13099-1 ]
XP_006719932.1. XM_006719869.1. [Q13099-2 ]
XP_006719933.1. XM_006719870.1. [Q13099-2 ]
UniGenei Hs.187376.

3D structure databases

ProteinModelPortali Q13099.
SMRi Q13099. Positions 210-341, 429-695.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113771. 4 interactions.
IntActi Q13099. 3 interactions.
STRINGi 9606.ENSP00000323580.

PTM databases

PhosphoSitei Q13099.

Polymorphism databases

DMDMi 206729873.

Proteomic databases

MaxQBi Q13099.
PaxDbi Q13099.
PRIDEi Q13099.

Protocols and materials databases

DNASUi 8100.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000319980 ; ENSP00000323580 ; ENSG00000032742 . [Q13099-1 ]
ENST00000351808 ; ENSP00000261632 ; ENSG00000032742 . [Q13099-2 ]
GeneIDi 8100.
KEGGi hsa:8100.
UCSCi uc001unh.3. human. [Q13099-1 ]

Organism-specific databases

CTDi 8100.
GeneCardsi GC13P021141.
HGNCi HGNC:20606. IFT88.
HPAi HPA040731.
MIMi 600595. gene.
neXtProti NX_Q13099.
Orphaneti 474. Jeune syndrome.
564. Meckel syndrome.
PharmGKBi PA134991804.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0457.
HOGENOMi HOG000258203.
HOVERGENi HBG059328.
InParanoidi Q13099.
KOi K16474.
OMAi LILCYYA.
OrthoDBi EOG7N37D5.
PhylomeDBi Q13099.
TreeFami TF313218.

Miscellaneous databases

GeneWikii IFT88.
GenomeRNAii 8100.
NextBioi 30744.
PROi Q13099.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q13099.
Bgeei Q13099.
CleanExi HS_IFT88.
Genevestigatori Q13099.

Family and domain databases

Gene3Di 1.25.40.10. 2 hits.
InterProi IPR006597. Sel1-like.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view ]
Pfami PF00515. TPR_1. 4 hits.
PF07719. TPR_2. 1 hit.
PF13174. TPR_6. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view ]
SMARTi SM00671. SEL1. 4 hits.
SM00028. TPR. 7 hits.
[Graphical view ]
PROSITEi PS50005. TPR. 9 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene."
    Schrick J.J., Onuchic L.F., Reeders S.T., Korenberg J., Chen X.-N., Moyer J.H., Wilkinson J.E., Woychik R.P.
    Hum. Mol. Genet. 4:559-567(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, VARIANT ASN-455.
    Tissue: Liver.
  2. "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 3).
    Tissue: Neuroepithelioma.
  3. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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] (ISOFORM 1), VARIANT ILE-383.
    Tissue: Testis.

Entry informationi

Entry nameiIFT88_HUMAN
AccessioniPrimary (citable) accession number: Q13099
Secondary accession number(s): A2A491
, B4DUS2, Q5SZJ6, Q8N719
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: September 23, 2008
Last modified: July 9, 2014
This is version 128 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 13
    Human chromosome 13: 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi