Q13099 (IFT88_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	IFT88
Synonyms:	TG737, TTC10

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	833 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Involved in primary cilium biogenesis By similarity.
Subunit structure	Component of IFT complex B composed of IFT88, IFT57, TRAF3IP1, IFT52, IFT27, HSPB11 and IFT20. Interacts with IFT46, IFT57 and IFT172 By similarity.
Subcellular location	Cytoplasm › cytoskeleton › centrosome › centriole By similarity. Cytoplasm › cytoskeleton › cilium 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 process	Cilium biogenesis/degradation
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat TPR repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterior/posterior pattern specification Inferred from electronic annotation. Source: Compara cardiac septum morphogenesis Inferred from electronic annotation. Source: Compara cilium morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB determination of left/right symmetry Inferred from electronic annotation. Source: Compara dorsal/ventral pattern formation Inferred from electronic annotation. Source: Compara embryonic digit morphogenesis Inferred from electronic annotation. Source: Compara embryonic organ development Inferred from electronic annotation. Source: Compara epithelial cell morphogenesis Inferred from electronic annotation. Source: Compara forebrain morphogenesis Inferred from electronic annotation. Source: Compara in utero embryonic development Inferred from electronic annotation. Source: Compara lung vasculature development Inferred from electronic annotation. Source: Compara positive regulation of proteolysis Inferred from electronic annotation. Source: Compara protein processing Inferred from electronic annotation. Source: Compara regulation of odontogenesis of dentin-containing tooth Inferred from electronic annotation. Source: Compara smoothened signaling pathway Inferred from electronic annotation. Source: Compara telencephalon development Inferred from electronic annotation. Source: Compara
Cellular_component	apical part of cell Inferred from electronic annotation. Source: Compara centriole Inferred from sequence or structural similarity. Source: UniProtKB cilium axoneme Inferred from electronic annotation. Source: Compara intraflagellar transport particle B Inferred from sequence or structural similarity. Source: BHF-UCL microtubule basal body Inferred from sequence or structural similarity. Source: UniProtKB motile cilium Inferred from sequence or structural similarity. Source: BHF-UCL motile primary cilium Inferred from electronic annotation. Source: Compara photoreceptor connecting cilium Inferred from electronic annotation. Source: Compara
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 833	833	Intraflagellar transport protein 88 homolog		PRO_0000106391
Regions
	Repeat	206 – 239	34	TPR 1
	Repeat	242 – 275	34	TPR 2
	Repeat	281 – 314	34	TPR 3
	Repeat	316 – 347	32	TPR 4
	Repeat	424 – 457	34	TPR 5
	Repeat	459 – 492	34	TPR 6
	Repeat	493 – 526	34	TPR 7
	Repeat	527 – 560	34	TPR 8
	Repeat	561 – 594	34	TPR 9
	Repeat	595 – 628	34	TPR 10
	Repeat	629 – 662	34	TPR 11
	Repeat	663 – 696	34	TPR 12
Natural variations
	Alternative sequence	1 – 9	9	Missing in isoform 2.		VSP_035429
	Alternative sequence	61 – 79	19	Missing in isoform 3.		VSP_040620
	Natural variant	383	1	M → I. Ref.5 Corresponds to variant rs2442455 [ dbSNP | Ensembl ].		VAR_046464
	Natural variant	455	1	S → N. Ref.1 Corresponds to variant rs9509307 [ dbSNP | Ensembl ].		VAR_046465
	Natural variant	671	1	S → G. Corresponds to variant rs9552254 [ dbSNP | Ensembl ].		VAR_046466
Experimental info
	Sequence conflict	210	1	F → S in AAA86720. Ref.1
	Sequence conflict	335	1	K → E in AAH30776. Ref.5
	Sequence conflict	388	1	I → V in AAH30776. Ref.5
	Sequence conflict	389	1	M → T in AAA86720. Ref.1
	Sequence conflict	407	1	Y → C in AAA86720. Ref.1
	Sequence conflict	608	1	E → G in AAH30776. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 23, 2008. Version 2. Checksum: 383887C9D79AF0DA	FASTA	833	94,270
	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
	Isoform 2 [UniParc]. Checksum: 12E30169CFC5476B	FASTA	824	93,192
	10 20 30 40 50 60 MMQNVHLAPE TDEDDLYSGY NDYNPIYDIE ELENDAAFQQ AVRTSHGRRP PITAKISSTA 70 80 90 100 110 120 VTRPIATGYG SKTSLASSIG RPMTGAIQDG VTRPMTAVRA AGFTKAALRG SAFDPLSQSR 130 140 150 160 170 180 GPASPLEAKK KDSPEEKIKQ LEKEVNELVE ESCIANSCGD LKLALEKAKD AGRKERVLVR 190 200 210 220 230 240 QREQVTTPEN INLDLTYSVL FNLASQYSVN EMYAEALNTY QVIVKNKMFS NAGILKMNMG 250 260 270 280 290 300 NIYLKQRNYS KAIKFYRMAL DQVPSVNKQM RIKIMQNIGV TFIQAGQYSD AINSYEHIMS 310 320 330 340 350 360 MAPNLKAGYN LTICYFAIGD REKMKKAFQK LITVPLEIDE DKYISPSDDP HTNLVTEAIK 370 380 390 400 410 420 NDHLRQMERE RKAMAEKYIM TSAKLIAPVI ETSFAAGYDW CVEVVKASQY VELANDLEIN 430 440 450 460 470 480 KAVTYLRQKD YNQAVEILKV LEKKDSRVKS AAATNLSALY YMGKDFAQAS SYADIAVNSD 490 500 510 520 530 540 RYNPAALTNK GNTVFANGDY EKAAEFYKEA LRNDSSCTEA LYNIGLTYEK LNRLDEALDC 550 560 570 580 590 600 FLKLHAILRN SAEVLYQIAN IYELMENPSQ AIEWLMQVVS VIPTDPQVLS KLGELYDREG 610 620 630 640 650 660 DKSQAFQYYY ESYRYFPCNI EVIEWLGAYY IDTQFWEKAI QYFERASLIQ PTQVKWQLMV 670 680 690 700 710 720 ASCFRRSGNY QKALDTYKDT HRKFPENVEC LRFLVRLCTD LGLKDAQEYA RKLKRLEKMK 730 740 750 760 770 780 EIREQRIKSG RDGSGGSRGK REGSASGDSG QNYSASSKGE RLSARLRALP GTNEPYESSS 790 800 810 820 NKEIDASYVD PLGPQIERPK TAAKKRIDED DFADEELGDD LLPE
	Isoform 3 [UniParc]. Checksum: B5364A6022DC66F3	FASTA	814	92,381
	10 20 30 40 50 60 MKFTNTKVQM MQNVHLAPET DEDDLYSGYN DYNPIYDIEE LENDAAFQQA VRTSHGRRPP 70 80 90 100 110 120 SKTSLASSIG RPMTGAIQDG VTRPMTAVRA AGFTKAALRG SAFDPLSQSR GPASPLEAKK 130 140 150 160 170 180 KDSPEEKIKQ LEKEVNELVE ESCIANSCGD LKLALEKAKD AGRKERVLVR QREQVTTPEN 190 200 210 220 230 240 INLDLTYSVL FNLASQYSVN EMYAEALNTY QVIVKNKMFS NAGILKMNMG NIYLKQRNYS 250 260 270 280 290 300 KAIKFYRMAL DQVPSVNKQM RIKIMQNIGV TFIQAGQYSD AINSYEHIMS MAPNLKAGYN 310 320 330 340 350 360 LTICYFAIGD REKMKKAFQK LITVPLEIDE DKYISPSDDP HTNLVTEAIK NDHLRQMERE 370 380 390 400 410 420 RKAMAEKYIM TSAKLIAPVI ETSFAAGYDW CVEVVKASQY VELANDLEIN KAVTYLRQKD 430 440 450 460 470 480 YNQAVEILKV LEKKDSRVKS AAATNLSALY YMGKDFAQAS SYADIAVNSD RYNPAALTNK 490 500 510 520 530 540 GNTVFANGDY EKAAEFYKEA LRNDSSCTEA LYNIGLTYEK LNRLDEALDC FLKLHAILRN 550 560 570 580 590 600 SAEVLYQIAN IYELMENPSQ AIEWLMQVVS VIPTDPQVLS KLGELYDREG DKSQAFQYYY 610 620 630 640 650 660 ESYRYFPCNI EVIEWLGAYY IDTQFWEKAI QYFERASLIQ PTQVKWQLMV ASCFRRSGNY 670 680 690 700 710 720 QKALDTYKDT HRKFPENVEC LRFLVRLCTD LGLKDAQEYA RKLKRLEKMK EIREQRIKSG 730 740 750 760 770 780 RDGSGGSRGK REGSASGDSG QNYSASSKGE RLSARLRALP GTNEPYESSS NKEIDASYVD 790 800 810 PLGPQIERPK TAAKKRIDED DFADEELGDD LLPE

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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.
IPI	IPI00402297. IPI00646878. IPI00973733.
RefSeq	NP_006522.2. NM_006531.3. NP_783195.2. NM_175605.3.
UniGene	Hs.187376.
3D structure databases
ProteinModelPortal	Q13099.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q13099. 1 interaction.
STRING	9606.ENSP00000323580.
PTM databases
PhosphoSite	Q13099.
Polymorphism databases
DMDM	206729873.
Proteomic databases
PaxDb	Q13099.
PRIDE	Q13099.
Protocols and materials databases
DNASU	8100.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000319980; ENSP00000323580; ENSG00000032742. ENST00000351808; ENSP00000261632; ENSG00000032742.
GeneID	8100.
KEGG	hsa:8100.
UCSC	uc001unh.3. human.
Organism-specific databases
CTD	8100.
GeneCards	GC13P021141.
HGNC	HGNC:20606. IFT88.
HPA	HPA040731.
MIM	600595. gene.
neXtProt	NX_Q13099.
PharmGKB	PA134991804.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0457.
HOGENOM	HOG000258203.
HOVERGEN	HBG059328.
InParanoid	Q13099.
KO	K16474.
OMA	CYRRSGN.
OrthoDB	EOG45DWNT.
Gene expression databases
ArrayExpress	Q13099.
Bgee	Q13099.
CleanEx	HS_IFT88.
Genevestigator	Q13099.
GermOnline	ENSG00000032742. Homo sapiens.
Family and domain databases
Gene3D	1.25.40.10. 2 hits.
InterPro	IPR006597. Sel1-like. IPR001440. TPR-1. IPR013026. TPR-contain_dom. IPR011990. TPR-like_helical. IPR013105. TPR_2. IPR019734. TPR_repeat. [Graphical view]
Pfam	PF00515. TPR_1. 4 hits. PF07719. TPR_2. 1 hit. PF13174. TPR_6. 1 hit. PF13181. TPR_8. 1 hit. [Graphical view]
SMART	SM00671. SEL1. 4 hits. SM00028. TPR. 7 hits. [Graphical view]
PROSITE	PS50005. TPR. 9 hits. PS50293. TPR_REGION. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	8100.
NextBio	30744.
SOURCE	Search...

Entry information

Entry name

IFT88_HUMAN

Accession

Primary (citable) accession number: Q13099
Secondary accession number(s): A2A491 , B4DUS2, Q5SZJ6, Q8N719

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	September 23, 2008
Last modified:	May 1, 2013
This is version 115 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.