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Q13099 (IFT88_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:IFT88
Synonyms:TG737, TTC10
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length833 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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.

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole By similarity. Cytoplasmcytoskeletoncilium basal body By similarity.

Tissue specificity

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

Sequence similarities

Contains 12 TPR repeats.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
   Cellular componentCell projection
Cilium
Cytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
TPR repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanterior/posterior pattern specification

Inferred from electronic annotation. Source: Ensembl

cardiac septum morphogenesis

Inferred from electronic annotation. Source: Ensembl

cilium morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

determination of left/right symmetry

Inferred from electronic annotation. Source: Ensembl

embryonic digit morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic organ development

Inferred from electronic annotation. Source: Ensembl

epithelial cell morphogenesis

Inferred from electronic annotation. Source: Ensembl

eye development

Inferred from electronic annotation. Source: Ensembl

forebrain morphogenesis

Inferred from electronic annotation. Source: Ensembl

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

lung vasculature development

Inferred from electronic annotation. Source: Ensembl

palate development

Inferred from electronic annotation. Source: Ensembl

positive regulation of proteolysis

Inferred from electronic annotation. Source: Ensembl

protein localization

Inferred from electronic annotation. Source: Ensembl

protein processing

Inferred from electronic annotation. Source: Ensembl

regulation of autophagic vacuole assembly

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of cilium assembly

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of odontogenesis of dentin-containing tooth

Inferred from electronic annotation. Source: Ensembl

smoothened signaling pathway

Inferred from electronic annotation. Source: Ensembl

spinal cord dorsal/ventral patterning

Inferred from electronic annotation. Source: Ensembl

telencephalon development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentapical part of cell

Inferred from electronic annotation. Source: Ensembl

axoneme

Inferred from electronic annotation. Source: Ensembl

centriole

Inferred from sequence or structural similarity. Source: UniProtKB

ciliary basal body

Inferred from sequence or structural similarity. Source: UniProtKB

cilium

Inferred from sequence or structural similarity. Source: UniProtKB

intraciliary transport particle B

Inferred from sequence or structural similarity. Source: BHF-UCL

motile cilium

Inferred from sequence or structural similarity. Source: BHF-UCL

motile primary cilium

Inferred from electronic annotation. Source: Ensembl

photoreceptor connecting cilium

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q13099-1)

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.
Isoform 2 (identifier: Q13099-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: Missing.
Isoform 3 (identifier: Q13099-3)

The sequence of this isoform differs from the canonical sequence as follows:
     61-79: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 833833Intraflagellar transport protein 88 homolog
PRO_0000106391

Regions

Repeat206 – 23934TPR 1
Repeat242 – 27534TPR 2
Repeat281 – 31434TPR 3
Repeat316 – 34732TPR 4
Repeat424 – 45734TPR 5
Repeat459 – 49234TPR 6
Repeat493 – 52634TPR 7
Repeat527 – 56034TPR 8
Repeat561 – 59434TPR 9
Repeat595 – 62834TPR 10
Repeat629 – 66234TPR 11
Repeat663 – 69634TPR 12

Natural variations

Alternative sequence1 – 99Missing in isoform 2.
VSP_035429
Alternative sequence61 – 7919Missing in isoform 3.
VSP_040620
Natural variant3831M → I. Ref.5
Corresponds to variant rs2442455 [ dbSNP | Ensembl ].
VAR_046464
Natural variant4551S → N. Ref.1
Corresponds to variant rs9509307 [ dbSNP | Ensembl ].
VAR_046465
Natural variant6711S → G.
Corresponds to variant rs9552254 [ dbSNP | Ensembl ].
VAR_046466

Experimental info

Sequence conflict2101F → S in AAA86720. Ref.1
Sequence conflict3351K → E in AAH30776. Ref.5
Sequence conflict3881I → V in AAH30776. Ref.5
Sequence conflict3891M → T in AAA86720. Ref.1
Sequence conflict4071Y → C in AAA86720. Ref.1
Sequence conflict6081E → G in AAH30776. Ref.5

Sequences

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

Last modified September 23, 2008. Version 2.
Checksum: 383887C9D79AF0DA

FASTA83394,270
        10         20         30         40         50         60 
MKFTNTKVQM MQNVHLAPET DEDDLYSGYN DYNPIYDIEE LENDAAFQQA VRTSHGRRPP 

        70         80         90        100        110        120 
ITAKISSTAV TRPIATGYGS KTSLASSIGR PMTGAIQDGV TRPMTAVRAA GFTKAALRGS 

       130        140        150        160        170        180 
AFDPLSQSRG PASPLEAKKK DSPEEKIKQL EKEVNELVEE SCIANSCGDL KLALEKAKDA 

       190        200        210        220        230        240 
GRKERVLVRQ REQVTTPENI NLDLTYSVLF NLASQYSVNE MYAEALNTYQ VIVKNKMFSN 

       250        260        270        280        290        300 
AGILKMNMGN IYLKQRNYSK AIKFYRMALD QVPSVNKQMR IKIMQNIGVT FIQAGQYSDA 

       310        320        330        340        350        360 
INSYEHIMSM APNLKAGYNL TICYFAIGDR EKMKKAFQKL ITVPLEIDED KYISPSDDPH 

       370        380        390        400        410        420 
TNLVTEAIKN DHLRQMERER KAMAEKYIMT SAKLIAPVIE TSFAAGYDWC VEVVKASQYV 

       430        440        450        460        470        480 
ELANDLEINK AVTYLRQKDY NQAVEILKVL EKKDSRVKSA AATNLSALYY MGKDFAQASS 

       490        500        510        520        530        540 
YADIAVNSDR YNPAALTNKG NTVFANGDYE KAAEFYKEAL RNDSSCTEAL YNIGLTYEKL 

       550        560        570        580        590        600 
NRLDEALDCF LKLHAILRNS AEVLYQIANI YELMENPSQA IEWLMQVVSV IPTDPQVLSK 

       610        620        630        640        650        660 
LGELYDREGD KSQAFQYYYE SYRYFPCNIE VIEWLGAYYI DTQFWEKAIQ YFERASLIQP 

       670        680        690        700        710        720 
TQVKWQLMVA SCFRRSGNYQ KALDTYKDTH RKFPENVECL RFLVRLCTDL GLKDAQEYAR 

       730        740        750        760        770        780 
KLKRLEKMKE IREQRIKSGR DGSGGSRGKR EGSASGDSGQ NYSASSKGER LSARLRALPG 

       790        800        810        820        830 
TNEPYESSSN KEIDASYVDP LGPQIERPKT AAKKRIDEDD FADEELGDDL LPE 

« Hide

Isoform 2 [UniParc].

Checksum: 12E30169CFC5476B
Show »

FASTA82493,192
Isoform 3 [UniParc].

Checksum: B5364A6022DC66F3
Show »

FASTA81492,381

References

« Hide 'large scale' references
[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. 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 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. expand/collapse author list , 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]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].
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS31944.1. [Q13099-1]
CCDS31945.1. [Q13099-2]
RefSeqNP_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]
UniGeneHs.187376.

3D structure databases

ProteinModelPortalQ13099.
SMRQ13099. Positions 210-341, 429-695.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113771. 4 interactions.
IntActQ13099. 3 interactions.
STRING9606.ENSP00000323580.

PTM databases

PhosphoSiteQ13099.

Polymorphism databases

DMDM206729873.

Proteomic databases

MaxQBQ13099.
PaxDbQ13099.
PRIDEQ13099.

Protocols and materials databases

DNASU8100.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000319980; ENSP00000323580; ENSG00000032742. [Q13099-1]
ENST00000351808; ENSP00000261632; ENSG00000032742. [Q13099-2]
GeneID8100.
KEGGhsa:8100.
UCSCuc001unh.3. human. [Q13099-1]

Organism-specific databases

CTD8100.
GeneCardsGC13P021141.
HGNCHGNC:20606. IFT88.
HPAHPA040731.
MIM600595. gene.
neXtProtNX_Q13099.
Orphanet474. Jeune syndrome.
564. Meckel syndrome.
PharmGKBPA134991804.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0457.
HOGENOMHOG000258203.
HOVERGENHBG059328.
InParanoidQ13099.
KOK16474.
OMALILCYYA.
OrthoDBEOG7N37D5.
PhylomeDBQ13099.
TreeFamTF313218.

Gene expression databases

ArrayExpressQ13099.
BgeeQ13099.
CleanExHS_IFT88.
GenevestigatorQ13099.

Family and domain databases

Gene3D1.25.40.10. 2 hits.
InterProIPR006597. Sel1-like.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view]
PfamPF00515. TPR_1. 4 hits.
PF07719. TPR_2. 1 hit.
PF13174. TPR_6. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view]
SMARTSM00671. SEL1. 4 hits.
SM00028. TPR. 7 hits.
[Graphical view]
PROSITEPS50005. TPR. 9 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiIFT88.
GenomeRNAi8100.
NextBio30744.
PROQ13099.
SOURCESearch...

Entry information

Entry nameIFT88_HUMAN
AccessionPrimary (citable) accession number: Q13099
Secondary accession number(s): A2A491 expand/collapse secondary AC list , B4DUS2, Q5SZJ6, Q8N719
Entry history
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 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM