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Q9UG01 (IF172_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 97. 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 172 homolog
Gene names
Name:IFT172
Synonyms:KIAA1179
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1749 AA.
Sequence statusComplete.
Protein existenceEvidence 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. Interacts with RABL2/RABL2A; binds preferentially to GDP-bound RABL2 By similarity.

Subcellular location

Cell projectioncilium. Note: Localized to the axoneme and around the base of the cilium. Ref.7

Involvement in disease

Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the IFT172 family.

Contains 14 TPR repeats.

Contains 9 WD repeats.

Alternative products

This entry describes 3 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.
Isoform 3 (identifier: Q9UG01-3)

The sequence of this isoform differs from the canonical sequence as follows:
     509-532: LHLYDIESCSKTMILNFCSYMQWV → VRRATKALGIGWPTEGVRQAATRD
     533-1749: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 17491749Intraflagellar transport protein 172 homolog
PRO_0000328941

Regions

Repeat14 – 5340WD 1
Repeat64 – 10340WD 2
Repeat110 – 14839WD 3
Repeat150 – 19142WD 4
Repeat195 – 23339WD 5
Repeat238 – 27841WD 6
Repeat284 – 32340WD 7
Repeat483 – 52038WD 8
Repeat521 – 55939WD 9
Repeat593 – 62432TPR 1
Repeat692 – 72534TPR 2
Repeat809 – 84234TPR 3
Repeat854 – 88734TPR 4
Repeat912 – 94534TPR 5
Repeat947 – 97024TPR 6
Repeat971 – 100434TPR 7
Repeat1042 – 107534TPR 8
Repeat1142 – 117534TPR 9
Repeat1276 – 130934TPR 10
Repeat1345 – 137834TPR 11
Repeat1411 – 144535TPR 12
Repeat1447 – 147731TPR 13
Repeat1574 – 160734TPR 14

Amino acid modifications

Modified residue11N-acetylmethionine Ref.6
Cross-link4Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1) Ref.6

Natural variations

Alternative sequence509 – 53224LHLYD…YMQWV → VRRATKALGIGWPTEGVRQA ATRD in isoform 3.
VSP_054428
Alternative sequence533 – 17491217Missing in isoform 3.
VSP_054429
Alternative sequence1514 – 152512CENLV…SEANS → AVLSPSSSVKTW in isoform 2.
VSP_032848
Alternative sequence1526 – 1749224Missing in isoform 2.
VSP_032849
Natural variant2961R → W in SRTD10. Ref.7
VAR_070956
Natural variant4111I → N in SRTD10. Ref.7
VAR_070957
Natural variant464 – 4652Missing in SRTD10.
VAR_070958
Natural variant9531R → H.
Corresponds to variant rs704793 [ dbSNP | Ensembl ].
VAR_042581
Natural variant15361L → P in SRTD10. Ref.7
VAR_070959
Natural variant15441R → C in SRTD10. Ref.7
VAR_070960
Natural variant17271C → R in SRTD10. Ref.7
VAR_070961

Experimental info

Sequence conflict14751P → L in CAB55914. Ref.4

Sequences

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

Last modified April 8, 2008. Version 2.
Checksum: 78AA83802D79E3CE

FASTA1,749197,576
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 0F5C5D89B95F6B0F
Show »

FASTA1,525172,438
Isoform 3 [UniParc].

Checksum: 73321ACEDA74FF52
Show »

FASTA53259,659

References

« Hide '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. expand/collapse author list , 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. 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 (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] (ISOFORMS 1 AND 3).
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.
[7]"Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans."
UK10K Consortium
Halbritter J., Bizet A.A., Schmidts M., Porath J.D., Braun D.A., Gee H.Y., McInerney-Leo A.M., Krug P., Filhol E., Davis E.E., Airik R., Czarnecki P.G., Lehman A.M., Trnka P., Nitschke P., Bole-Feysot C., Schueler M., Knebelmann B. expand/collapse author list , Burtey S., Szabo A.J., Tory K., Leo P.J., Gardiner B., McKenzie F.A., Zankl A., Brown M.A., Hartley J.L., Maher E.R., Li C., Leroux M.R., Scambler P.J., Zhan S.H., Jones S.J., Kayserili H., Tuysuz B., Moorani K.N., Constantinescu A., Krantz I.D., Kaplan B.S., Shah J.V., Hurd T.W., Doherty D., Katsanis N., Duncan E.L., Otto E.A., Beales P.L., Mitchison H.M., Saunier S., Hildebrandt F.
Am. J. Hum. Genet. 93:915-925(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, VARIANTS SRTD10 TRP-296; ASN-411; 464-ASP-ILE-465 DEL; PRO-1536; CYS-1544 AND ARG-1727.
+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.
BC142675 mRNA. Translation: AAI42676.1.
BC142729 mRNA. Translation: AAI42730.1.
AL110218 mRNA. Translation: CAB53678.1.
AL117421 mRNA. Translation: CAB55914.2.
AB033005 mRNA. Translation: BAA86493.1.
CCDSCCDS1755.1. [Q9UG01-1]
PIRT14758.
T17224.
RefSeqNP_056477.1. NM_015662.2. [Q9UG01-1]
UniGeneHs.127401.

3D structure databases

ProteinModelPortalQ9UG01.
SMRQ9UG01. Positions 236-312, 1107-1168, 1202-1250, 1276-1303.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117589. 5 interactions.
IntActQ9UG01. 6 interactions.
STRING9606.ENSP00000260570.

PTM databases

PhosphoSiteQ9UG01.

Polymorphism databases

DMDM182662418.

Proteomic databases

MaxQBQ9UG01.
PaxDbQ9UG01.
PRIDEQ9UG01.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000260570; ENSP00000260570; ENSG00000138002. [Q9UG01-1]
ENST00000359466; ENSP00000352443; ENSG00000138002.
GeneID26160.
KEGGhsa:26160.
UCSCuc002rku.3. human. [Q9UG01-1]

Organism-specific databases

CTD26160.
GeneCardsGC02M027667.
H-InvDBHIX0001924.
HIX0119024.
HGNCHGNC:30391. IFT172.
HPAHPA044893.
MIM607386. gene.
615630. phenotype.
neXtProtNX_Q9UG01.
Orphanet474. Jeune syndrome.
140969. Saldino-Mainzer syndrome.
PharmGKBPA142671666.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG289811.
HOGENOMHOG000259226.
HOVERGENHBG098449.
InParanoidQ9UG01.
OMAKLRLHLY.
OrthoDBEOG7FJGZM.
PhylomeDBQ9UG01.
TreeFamTF312901.

Gene expression databases

ArrayExpressQ9UG01.
BgeeQ9UG01.
CleanExHS_IFT172.
GenevestigatorQ9UG01.

Family and domain databases

Gene3D2.130.10.10. 1 hit.
InterProIPR016024. ARM-type_fold.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMSSF48371. SSF48371. 1 hit.
SSF50978. SSF50978. 1 hit.
ProtoNetSearch...

Other

ChiTaRSIFT172. human.
GenomeRNAi26160.
NextBio35462254.
PROQ9UG01.
SOURCESearch...

Entry information

Entry nameIF172_HUMAN
AccessionPrimary (citable) accession number: Q9UG01
Secondary accession number(s): A5PKZ0 expand/collapse secondary AC list , B2RNU5, Q86X44, Q96HW4, Q9UFJ9, Q9ULP1
Entry history
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: July 9, 2014
This is version 97 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 2

Human chromosome 2: entries, gene names and cross-references to MIM