Reviewed, UniProtKB/Swiss-Prot Q13099 (IFT88_HUMAN)

Names and origin

Protein names

Recommended name:
    Intraflagellar transport protein 88 homolog
Alternative name(s):
    Tetratricopeptide repeat protein 10
      Short name=TPR repeat protein 10
    Recessive polycystic kidney disease protein Tg737 homolog

Gene names

Name:	IFT88
Synonyms:	TG737, TTC10

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	833 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subunit structure	Interacts with IFT57 and IFT172 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
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat TPR repeat
Gene Ontology (GO)
Biological process	excretion Ref.1 Traceable author statement. Source: ProtInc
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BAT2	P48634	1	EBI-347427,EBI-347545

Alternative products

This entry describes 2 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.

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
	Natural variant	383	1	M → I: dbSNP rs2442455. Ref.3		VAR_046464
	Natural variant	455	1	S → N: dbSNP rs9509307. Ref.1		VAR_046465
	Natural variant	671	1	S → G: dbSNP rs9552254.		VAR_046466
Experimental info
	Sequence conflict	210	1	F → S in AAA86720. Ref.1
	Sequence conflict	335	1	K → E in AAH30776. Ref.3
	Sequence conflict	388	1	I → V in AAH30776. Ref.3
	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.3

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. 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

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: 7633404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, VARIANT ASN-455. Tissue: Liver.
[2]	"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: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-383. Tissue: Testis.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U20362 mRNA. Translation: AAA86720.1. 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. BC030776 mRNA. Translation: AAH30776.2.
IPI	IPI00402297. IPI00646878.
RefSeq	NP_783195.2.
UniGene	Hs.187376
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q13099. 2 interactions.
PTM databases
PhosphoSite	Q13099.
Genome annotation databases
Ensembl	ENSG00000032742. Homo sapiens. [Contig view]
GeneID	8100.
Organism-specific databases
GeneCards	GC13P020039.
HGNC	HGNC:20606. IFT88.
MIM	600595. gene.
PharmGKB	PA134991804.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q13099.
OMA	Q13099. KAFQKLI.
Gene expression databases
ArrayExpress	Q13099.
Bgee	Q13099.
CleanEx	HS_IFT88.
GermOnline	ENSG00000032742. Homo sapiens.
Family and domain databases
InterPro	IPR006597. Sel1-like. IPR001440. TPR-1. IPR011990. TPR-like_helical. IPR013026. TPR_region. IPR019734. TPR_repeat. [Graphical view]
Gene3D	G3DSA:1.25.40.10. TPR-like_helical. 2 hits.
Pfam	PF00515. TPR_1. 6 hits. [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 Resources
NextBio	30744.
SOURCE	Search...

Entry information

Entry name

IFT88_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	September 23, 2008
Last modified:	June 16, 2009
This is version 75 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)