Q9UG01 (IF172_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Intraflagellar transport protein 172 homolog

Gene names

Name:	IFT172
Synonyms:	KIAA1179

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	1749 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway By similarity.
Subunit structure	Interacts with IFT88 By similarity.
Subcellular location	Cell projection › cilium By similarity.
Sequence similarities	Belongs to the IFT172 family. Contains 14 TPR repeats. Contains 9 WD repeats.

Ontologies

Keywords
Cellular component	Cell projection Cilium
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat TPR repeat WD repeat
Molecular function	Developmental protein
PTM	Acetylation Isopeptide bond Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cilium assembly 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 neural tube formation Inferred from electronic annotation. Source: Compara protein processing Inferred from electronic annotation. Source: Compara smoothened signaling pathway Inferred from electronic annotation. Source: Compara
Cellular_component	cilium Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UG01-1)

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: Q9UG01-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1514-1525: CENLVKSSEANS → AVLSPSSSVKTW
     1526-1749: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1749	1749	Intraflagellar transport protein 172 homolog		PRO_0000328941
Regions
	Repeat	14 – 53	40	WD 1
	Repeat	64 – 103	40	WD 2
	Repeat	110 – 148	39	WD 3
	Repeat	150 – 191	42	WD 4
	Repeat	195 – 233	39	WD 5
	Repeat	238 – 278	41	WD 6
	Repeat	284 – 323	40	WD 7
	Repeat	483 – 520	38	WD 8
	Repeat	521 – 559	39	WD 9
	Repeat	593 – 624	32	TPR 1
	Repeat	692 – 725	34	TPR 2
	Repeat	809 – 842	34	TPR 3
	Repeat	854 – 887	34	TPR 4
	Repeat	912 – 945	34	TPR 5
	Repeat	947 – 970	24	TPR 6
	Repeat	971 – 1004	34	TPR 7
	Repeat	1042 – 1075	34	TPR 8
	Repeat	1142 – 1175	34	TPR 9
	Repeat	1276 – 1309	34	TPR 10
	Repeat	1345 – 1378	34	TPR 11
	Repeat	1411 – 1445	35	TPR 12
	Repeat	1447 – 1477	31	TPR 13
	Repeat	1574 – 1607	34	TPR 14
Amino acid modifications
	Modified residue	1	1	N-acetylmethionine Ref.6
	Cross-link	4		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1) Ref.6
Natural variations
	Alternative sequence	1514 – 1525	12	CENLV…SEANS → AVLSPSSSVKTW in isoform 2.		VSP_032848
	Alternative sequence	1526 – 1749	224	Missing in isoform 2.		VSP_032849
	Natural variant	953	1	R → H. Corresponds to variant rs704793 [ dbSNP | Ensembl ].		VAR_042581
Experimental info
	Sequence conflict	1475	1	P → L in CAB55914. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 8, 2008. Version 2. Checksum: 78AA83802D79E3CE	FASTA	1,749	197,576
	10 20 30 40 50 60 MHLKHLRTLL SPQDGAAKVT CMAWSQNNAK FAVCTVDRVV LLYDEHGERR DKFSTKPADM 70 80 90 100 110 120 KYGRKSYMVK GMAFSPDSTK IAIGQTDNII YVYKIGEDWG DKKVICNKFI QTSAVTCLQW 130 140 150 160 170 180 PAEYIIVFGL AEGKVRLANT KTNKSSTIYG TESYVVSLTT NCSGKGILSG HADGTIVRYF 190 200 210 220 230 240 FDDEGSGESQ GKLVNHPCPP YALAWATNSI VAAGCDRKIV AYGKEGHMLQ TFDYSRDPQE 250 260 270 280 290 300 REFTTAVSSP GGQSVVLGSY DRLRVFNWIP RRSIWEEAKP KEITNLYTIT ALAWKRDGSR 310 320 330 340 350 360 LCVGTLCGGV EQFDCCLRRS IYKNKFELTY VGPSQVIVKN LSSGTRVVLK SHYGYEVEEV 370 380 390 400 410 420 KILGKERYLV AHTSETLLLG DLNTNRLSEI AWQGSGGNEK YFFENENVCM IFNAGELTLV 430 440 450 460 470 480 EYGNNDTLGS VRTEFMNPHL ISVRINERCQ RGTEDNKKLA YLIDIKTIAI VDLIGGYNIG 490 500 510 520 530 540 TVSHESRVDW LELNETGHKL LFRDRKLRLH LYDIESCSKT MILNFCSYMQ WVPGSDVLVA 550 560 570 580 590 600 QNRNSLCVWY NIEAPERVTM FTIRGDVIGL ERGGGKTEVM VMEGVTTVAY TLDEGLIEFG 610 620 630 640 650 660 TAIDDGNYIR ATAFLETLEM TPETEAMWKT LSKLALEARQ LHIAERCFSA LGQVAKARFL 670 680 690 700 710 720 HETNEIADQV SREYGGEGTD FYQVRARLAM LEKNYKLAEM IFLEQNAVEE AMGMYQELHR 730 740 750 760 770 780 WDECIAVAEA KGHPALEKLR RSYYQWLMDT QQEERAGELQ ESQGDGLAAI SLYLKAGLPA 790 800 810 820 830 840 KAARLVLTRE ELLANTELVE HITAALIKGE LYERAGDLFE KIHNPQKALE CYRKGNAFMK 850 860 870 880 890 900 AVELARLAFP VEVVKLEEAW GDHLVQQKQL DAAINHYIEA RCSIKAIEAA LGARQWKKAI 910 920 930 940 950 960 YILDLQDRNT ASKYYPLVAQ HYASLQEYEI AEELYTKGDR TKDAIDMYTQ AGRWEQAHKL 970 980 990 1000 1010 1020 AMKCMRPEDV SVLYITQAQE MEKQGKYREA ERLYVTVQEP DLAITMYKKH KLYDDMIRLV 1030 1040 1050 1060 1070 1080 GKHHPDLLSD THLHLGKELE AEGRLQEAEY HYLEAQEWKA TVNMYRASGL WEEAYRVART 1090 1100 1110 1120 1130 1140 QGGANAHKHV AYLWAKSLGG EAAVRLLNKL GLLEAAVDHA ADNCSFEFAF ELSRLALKHK 1150 1160 1170 1180 1190 1200 TPEVHLKYAM FLEDEGKFEE AEAEFIRAGK PKEAVLMFVH NQDWEAAQRV AEAHDPDSVA 1210 1220 1230 1240 1250 1260 EVLVGQARGA LEEKDFQKAE GLLLRAQRPG LALNYYKEAG LWSDALRICK DYVPSQLEAL 1270 1280 1290 1300 1310 1320 QEEYEREATK KGARGVEGFV EQARHWEQAG EYSRAVDCYL KVRDSGNSGL AEKCWMKAAE 1330 1340 1350 1360 1370 1380 LSIKFLPPQR NMEVVLAVGP QLIGIGKHSA AAELYLNLDL VKEAIDAFIE GEEWNKAKRV 1390 1400 1410 1420 1430 1440 AKELDPRYED YVDQHYKEFL KNQGKVDSLV GVDVIAALDL YVEQGQWDKC IETATKQNYK 1450 1460 1470 1480 1490 1500 ILHKYVALYA THLIREGSSA QALALYVQHG APANPQNFNI YKRIFTDMVS SPGTNCAEAY 1510 1520 1530 1540 1550 1560 HSWADLRDVL FNLCENLVKS SEANSPAHEE FKTMLLIAHY YATRSAAQSV KQLETVAARL 1570 1580 1590 1600 1610 1620 SVSLLRHTQL LPVDKAFYEA GIAAKAVGWD NMAFIFLNRF LDLTDAIEEG TLDGLDHSDF 1630 1640 1650 1660 1670 1680 QDTDIPFEVP LPAKQHVPEA EREEVRDWVL TVSMDQRLEQ VLPRDERGAY EASLVAASTG 1690 1700 1710 1720 1730 1740 VRALPCLITG YPILRNKIEF KRPGKAANKD NWNKFLMAIK TSHSPVCQDV LKFISQWCGG LPSTSFSFQ
	Isoform 2 [UniParc]. Checksum: 0F5C5D89B95F6B0F	FASTA	1,525	172,438
	10 20 30 40 50 60 MHLKHLRTLL SPQDGAAKVT CMAWSQNNAK FAVCTVDRVV LLYDEHGERR DKFSTKPADM 70 80 90 100 110 120 KYGRKSYMVK GMAFSPDSTK IAIGQTDNII YVYKIGEDWG DKKVICNKFI QTSAVTCLQW 130 140 150 160 170 180 PAEYIIVFGL AEGKVRLANT KTNKSSTIYG TESYVVSLTT NCSGKGILSG HADGTIVRYF 190 200 210 220 230 240 FDDEGSGESQ GKLVNHPCPP YALAWATNSI VAAGCDRKIV AYGKEGHMLQ TFDYSRDPQE 250 260 270 280 290 300 REFTTAVSSP GGQSVVLGSY DRLRVFNWIP RRSIWEEAKP KEITNLYTIT ALAWKRDGSR 310 320 330 340 350 360 LCVGTLCGGV EQFDCCLRRS IYKNKFELTY VGPSQVIVKN LSSGTRVVLK SHYGYEVEEV 370 380 390 400 410 420 KILGKERYLV AHTSETLLLG DLNTNRLSEI AWQGSGGNEK YFFENENVCM IFNAGELTLV 430 440 450 460 470 480 EYGNNDTLGS VRTEFMNPHL ISVRINERCQ RGTEDNKKLA YLIDIKTIAI VDLIGGYNIG 490 500 510 520 530 540 TVSHESRVDW LELNETGHKL LFRDRKLRLH LYDIESCSKT MILNFCSYMQ WVPGSDVLVA 550 560 570 580 590 600 QNRNSLCVWY NIEAPERVTM FTIRGDVIGL ERGGGKTEVM VMEGVTTVAY TLDEGLIEFG 610 620 630 640 650 660 TAIDDGNYIR ATAFLETLEM TPETEAMWKT LSKLALEARQ LHIAERCFSA LGQVAKARFL 670 680 690 700 710 720 HETNEIADQV SREYGGEGTD FYQVRARLAM LEKNYKLAEM IFLEQNAVEE AMGMYQELHR 730 740 750 760 770 780 WDECIAVAEA KGHPALEKLR RSYYQWLMDT QQEERAGELQ ESQGDGLAAI SLYLKAGLPA 790 800 810 820 830 840 KAARLVLTRE ELLANTELVE HITAALIKGE LYERAGDLFE KIHNPQKALE CYRKGNAFMK 850 860 870 880 890 900 AVELARLAFP VEVVKLEEAW GDHLVQQKQL DAAINHYIEA RCSIKAIEAA LGARQWKKAI 910 920 930 940 950 960 YILDLQDRNT ASKYYPLVAQ HYASLQEYEI AEELYTKGDR TKDAIDMYTQ AGRWEQAHKL 970 980 990 1000 1010 1020 AMKCMRPEDV SVLYITQAQE MEKQGKYREA ERLYVTVQEP DLAITMYKKH KLYDDMIRLV 1030 1040 1050 1060 1070 1080 GKHHPDLLSD THLHLGKELE AEGRLQEAEY HYLEAQEWKA TVNMYRASGL WEEAYRVART 1090 1100 1110 1120 1130 1140 QGGANAHKHV AYLWAKSLGG EAAVRLLNKL GLLEAAVDHA ADNCSFEFAF ELSRLALKHK 1150 1160 1170 1180 1190 1200 TPEVHLKYAM FLEDEGKFEE AEAEFIRAGK PKEAVLMFVH NQDWEAAQRV AEAHDPDSVA 1210 1220 1230 1240 1250 1260 EVLVGQARGA LEEKDFQKAE GLLLRAQRPG LALNYYKEAG LWSDALRICK DYVPSQLEAL 1270 1280 1290 1300 1310 1320 QEEYEREATK KGARGVEGFV EQARHWEQAG EYSRAVDCYL KVRDSGNSGL AEKCWMKAAE 1330 1340 1350 1360 1370 1380 LSIKFLPPQR NMEVVLAVGP QLIGIGKHSA AAELYLNLDL VKEAIDAFIE GEEWNKAKRV 1390 1400 1410 1420 1430 1440 AKELDPRYED YVDQHYKEFL KNQGKVDSLV GVDVIAALDL YVEQGQWDKC IETATKQNYK 1450 1460 1470 1480 1490 1500 ILHKYVALYA THLIREGSSA QALALYVQHG APANPQNFNI YKRIFTDMVS SPGTNCAEAY 1510 1520 HSWADLRDVL FNLAVLSPSS SVKTW

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	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 (SEP-2005) to the EMBL/GenBank/DDBJ databases 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain and Lung.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 97-1749 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1203-1737 (ISOFORM 2). Tissue: Testis.
[5]	"Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain." Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O. DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 660-1749 (ISOFORM 1). Tissue: Brain.
[6]	"In vivo identification of sumoylation sites by a signature tag and cysteine-targeted affinity purification." Blomster H.A., Imanishi S.Y., Siimes J., Kastu J., Morrice N.A., Eriksson J.E., Sistonen L. J. Biol. Chem. 285:19324-19329(2010) [PubMed] [Europe PMC] [Abstract] Cited for: SUMOYLATION AT LYS-4, ACETYLATION AT MET-1. Tissue: Cervix carcinoma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC074117 Genomic DNA. No translation available. CH471053 Genomic DNA. Translation: EAX00573.1. BC008024 mRNA. Translation: AAH08024.1. BC047294 mRNA. Translation: AAH47294.1. BC137126 mRNA. Translation: AAI37127.1. AL110218 mRNA. Translation: CAB53678.1. AL117421 mRNA. Translation: CAB55914.2. AB033005 mRNA. Translation: BAA86493.1.
IPI	IPI00410096. IPI00889747.
PIR	T14758. T17224.
RefSeq	NP_056477.1. NM_015662.1.
UniGene	Hs.127401.
3D structure databases
ProteinModelPortal	Q9UG01.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UG01. 6 interactions.
STRING	9606.ENSP00000260570.
PTM databases
PhosphoSite	Q9UG01.
Polymorphism databases
DMDM	182662418.
Proteomic databases
PaxDb	Q9UG01.
PRIDE	Q9UG01.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000260570; ENSP00000260570; ENSG00000138002.
GeneID	26160.
KEGG	hsa:26160.
UCSC	uc002rku.3. human.
Organism-specific databases
CTD	26160.
GeneCards	GC02M027667.
H-InvDB	HIX0001924. HIX0119024.
HGNC	HGNC:30391. IFT172.
HPA	HPA044893.
MIM	607386. gene.
neXtProt	NX_Q9UG01.
PharmGKB	PA142671666.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG289811.
HOGENOM	HOG000259226.
HOVERGEN	HBG098449.
InParanoid	Q9UG01.
OMA	MAFIFLN.
OrthoDB	EOG4F4S95.
PhylomeDB	Q9UG01.
Enzyme and pathway databases
Pathway_Interaction_DB	hedgehog_glipathway. Hedgehog signaling events mediated by Gli proteins.
Gene expression databases
ArrayExpress	Q9UG01.
Bgee	Q9UG01.
CleanEx	HS_IFT172.
Genevestigator	Q9UG01.
Family and domain databases
Gene3D	2.130.10.10. 1 hit.
InterPro	IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR017986. WD40_repeat_dom. [Graphical view]
SMART	SM00320. WD40. 7 hits. [Graphical view]
SUPFAM	SSF50978. WD40_like. 2 hits.
PROSITE	PS50005. TPR. False negative. PS50293. TPR_REGION. False negative. PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. False negative. PS50294. WD_REPEATS_REGION. False negative. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	IFT172. human.
GenomeRNAi	26160.
NextBio	48259.
SOURCE	Search...

Entry information

Entry name

IF172_HUMAN

Accession

Primary (citable) accession number: Q9UG01
Secondary accession number(s): B2RNU5 , Q86X44, Q96HW4, Q9UFJ9, Q9ULP1

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 8, 2008
Last sequence update:	April 8, 2008
Last modified:	May 1, 2013
This is version 86 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.