ID IF172_DANRE Reviewed; 1745 AA.
AC Q5RHH4; Q6IVW1;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 18-JAN-2017, entry version 87.
DE RecName: Full=Intraflagellar transport protein 172 homolog;
GN Name=ift172; ORFNames=si:dkey-221h15.5;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Cyprinidae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], DISRUPTION PHENOTYPE, AND FUNCTION.
RX PubMed=15269167; DOI=10.1242/dev.01240;
RA Sun Z., Amsterdam A., Pazour G.J., Cole D.G., Miller M.S., Hopkins N.;
RT "A genetic screen in zebrafish identifies cilia genes as a principal
RT cause of cystic kidney.";
RL Development 131:4085-4093(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C.,
RA Muffato M., Collins J.E., Humphray S., McLaren K., Matthews L.,
RA McLaren S., Sealy I., Caccamo M., Churcher C., Scott C., Barrett J.C.,
RA Koch R., Rauch G.J., White S., Chow W., Kilian B., Quintais L.T.,
RA Guerra-Assuncao J.A., Zhou Y., Gu Y., Yen J., Vogel J.H., Eyre T.,
RA Redmond S., Banerjee R., Chi J., Fu B., Langley E., Maguire S.F.,
RA Laird G.K., Lloyd D., Kenyon E., Donaldson S., Sehra H.,
RA Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Eliott D., Threadgold G.,
RA Harden G., Ware D., Mortimer B., Kerry G., Heath P., Phillimore B.,
RA Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S., Pelan S.,
RA Griffiths G., Smith M., Glithero R., Howden P., Barker N., Stevens C.,
RA Harley J., Holt K., Panagiotidis G., Lovell J., Beasley H.,
RA Henderson C., Gordon D., Auger K., Wright D., Collins J., Raisen C.,
RA Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J.,
RA Babbage A., Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S.,
RA Wray P., Ellington A., Matthews N., Ellwood M., Woodmansey R.,
RA Clark G., Cooper J., Tromans A., Grafham D., Skuce C., Pandian R.,
RA Andrews R., Harrison E., Kimberley A., Garnett J., Fosker N., Hall R.,
RA Garner P., Kelly D., Bird C., Palmer S., Gehring I., Berger A.,
RA Dooley C.M., Ersan-Urun Z., Eser C., Geiger H., Geisler M.,
RA Karotki L., Kirn A., Konantz J., Konantz M., Oberlander M.,
RA Rudolph-Geiger S., Teucke M., Osoegawa K., Zhu B., Rapp A., Widaa S.,
RA Langford C., Yang F., Carter N.P., Harrow J., Ning Z., Herrero J.,
RA Searle S.M., Enright A., Geisler R., Plasterk R.H., Lee C.,
RA Westerfield M., de Jong P.J., Zon L.I., Postlethwait J.H.,
RA Nusslein-Volhard C., Hubbard T.J., Roest Crollius H., Rogers J.,
RA Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the
RT human genome.";
RL Nature 496:498-503(2013).
RN [3]
RP DISRUPTION PHENOTYPE.
RX PubMed=24140113; DOI=10.1016/j.ajhg.2013.09.012;
RG UK10K Consortium;
RA Halbritter J., Bizet A.A., Schmidts M., Porath J.D., Braun D.A.,
RA Gee H.Y., McInerney-Leo A.M., Krug P., Filhol E., Davis E.E.,
RA Airik R., Czarnecki P.G., Lehman A.M., Trnka P., Nitschke P.,
RA Bole-Feysot C., Schueler M., Knebelmann B., Burtey S., Szabo A.J.,
RA Tory K., Leo P.J., Gardiner B., McKenzie F.A., Zankl A., Brown M.A.,
RA Hartley J.L., Maher E.R., Li C., Leroux M.R., Scambler P.J.,
RA Zhan S.H., Jones S.J., Kayserili H., Tuysuz B., Moorani K.N.,
RA Constantinescu A., Krantz I.D., Kaplan B.S., Shah J.V., Hurd T.W.,
RA Doherty D., Katsanis N., Duncan E.L., Otto E.A., Beales P.L.,
RA Mitchison H.M., Saunier S., Hildebrandt F.;
RT "Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino
RT syndromes in humans.";
RL Am. J. Hum. Genet. 93:915-925(2013).
CC -!- FUNCTION: Required for the maintenance and formation of cilia.
CC {ECO:0000269|PubMed:15269167}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}.
CC -!- DISRUPTION PHENOTYPE: Fishes display cysts in the glomerular-
CC tubular region of the kidney similar to cystic kidney disease.
CC Knockdown of the gene with 2 morpholino oligonucleotides leads to
CC ventral body-axis curvature, formation of kidney cysts, otolith
CC defects, and hydrocephalus, as well as cartilage defects of the
CC craniofacial skeleton. Knockdown of the gene in a rhodopsin-GFP
CC transgenic line demonstrates that the level of rhodopsin-GFP is
CC lower in ift172 morphants than controls, suggesting retinal
CC degeneration. Scanning electron microscopy of the olfactory
CC placode reveales ciliogenesis defects in morphants, including
CC shortened and truncated cilia. {ECO:0000269|PubMed:15269167,
CC ECO:0000269|PubMed:24140113}.
CC -!- SIMILARITY: Belongs to the IFT172 family. {ECO:0000305}.
CC -!- SIMILARITY: Contains 11 TPR repeats. {ECO:0000305}.
CC -!- SIMILARITY: Contains 10 WD repeats. {ECO:0000305}.
DR EMBL; AY618923; AAT39119.1; -; mRNA.
DR EMBL; BX511178; CAI20958.1; -; Genomic_DNA.
DR RefSeq; NP_001002312.1; NM_001002312.1.
DR UniGene; Dr.19771; -.
DR ProteinModelPortal; Q5RHH4; -.
DR STRING; 7955.ENSDARP00000061333; -.
DR PaxDb; Q5RHH4; -.
DR PRIDE; Q5RHH4; -.
DR Ensembl; ENSDART00000061334; ENSDARP00000061333; ENSDARG00000041870.
DR GeneID; 432389; -.
DR KEGG; dre:432389; -.
DR CTD; 26160; -.
DR ZFIN; ZDB-GENE-040827-1; ift172.
DR eggNOG; KOG3616; Eukaryota.
DR eggNOG; ENOG410XR2C; LUCA.
DR GeneTree; ENSGT00440000033648; -.
DR HOGENOM; HOG000259226; -.
DR HOVERGEN; HBG098449; -.
DR InParanoid; Q5RHH4; -.
DR KO; K19676; -.
DR OMA; EDIHLKN; -.
DR OrthoDB; EOG091G02TF; -.
DR PhylomeDB; Q5RHH4; -.
DR TreeFam; TF312901; -.
DR Reactome; R-DRE-5610787; Hedgehog 'off' state.
DR Reactome; R-DRE-5620924; Intraflagellar transport.
DR Reactome; R-DRE-5632684; Hedgehog 'on' state.
DR PRO; PR:Q5RHH4; -.
DR Proteomes; UP000000437; Chromosome 20.
DR Bgee; ENSDARG00000041870; -.
DR GO; GO:0005930; C:axoneme; IBA:GO_Central.
DR GO; GO:0036064; C:ciliary basal body; IBA:GO_Central.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0030992; C:intraciliary transport particle B; ISS:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IMP:ZFIN.
DR GO; GO:0048793; P:pronephros development; IGI:ZFIN.
DR GO; GO:0032006; P:regulation of TOR signaling; IMP:ZFIN.
DR GO; GO:0060041; P:retina development in camera-type eye; IMP:ZFIN.
DR Gene3D; 1.25.40.10; -; 2.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR011990; TPR-like_helical_dom.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR017986; WD40_repeat_dom.
DR SMART; SM00320; WD40; 6.
DR SUPFAM; SSF50978; SSF50978; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium; Complete proteome; Developmental protein;
KW Reference proteome; Repeat; TPR repeat; WD repeat.
FT CHAIN 1 1745 Intraflagellar transport protein 172
FT homolog.
FT /FTId=PRO_0000328944.
FT REPEAT 14 53 WD 1.
FT REPEAT 64 103 WD 2.
FT REPEAT 110 148 WD 3.
FT REPEAT 150 190 WD 4.
FT REPEAT 195 233 WD 5.
FT REPEAT 238 278 WD 6.
FT REPEAT 284 323 WD 7.
FT REPEAT 483 521 WD 8.
FT REPEAT 522 559 WD 9.
FT REPEAT 680 725 WD 10.
FT REPEAT 691 725 TPR 1.
FT REPEAT 750 784 TPR 2.
FT REPEAT 809 842 TPR 3.
FT REPEAT 854 887 TPR 4.
FT REPEAT 912 945 TPR 5.
FT REPEAT 947 971 TPR 6.
FT REPEAT 972 1004 TPR 7.
FT REPEAT 1042 1075 TPR 8.
FT REPEAT 1272 1305 TPR 9.
FT REPEAT 1328 1361 TPR 10.
FT REPEAT 1407 1441 TPR 11.
FT CONFLICT 436 436 M -> I (in Ref. 1; AAT39119).
FT {ECO:0000305}.
FT CONFLICT 799 799 V -> I (in Ref. 1; AAT39119).
FT {ECO:0000305}.
FT CONFLICT 884 884 I -> T (in Ref. 1; AAT39119).
FT {ECO:0000305}.
FT CONFLICT 921 921 Y -> H (in Ref. 1; AAT39119).
FT {ECO:0000305}.
FT CONFLICT 925 925 V -> L (in Ref. 1; AAT39119).
FT {ECO:0000305}.
FT CONFLICT 1157 1157 K -> N (in Ref. 1; AAT39119).
FT {ECO:0000305}.
FT CONFLICT 1287 1287 E -> D (in Ref. 1; AAT39119).
FT {ECO:0000305}.
CC --------------------------------------------------------------------------
CC The following FT lines are automated annotations from the MyHits database.
CC --------------------------------------------------------------------------
FT MYHIT 2 44 ismart:WD40 [T]
FT MYHIT 279 314 ismart:WD40 [T]
FT MYHIT 55 94 ismart:WD40 [T]
FT MYHIT 186 223 ismart:WD40 [T]
FT MYHIT 225 267 ismart:WD40 [T]
FT MYHIT 141 180 ismart:WD40 [T]
SQ SEQUENCE 1745 AA; 197780 MW; C4C875DFA684497C CRC64;
MQLKYMKTLL TPQDGAAKVT CMAWAPNNAK FAVCTIDRVV ILYDEQGEKR DRFTTKPADP
KYGKKTYVVK SMAFSPDSTK IAVAQTDNII FVYKIGEEWG DKKVICNKFI QTSAVTSLVW
PSEHAIIFGL AEGKVRQANT KTSKSSTIYG TDSYVVSLTS NVSGKGILSG HADGTVVRYF
IDDEGSGESQ GKLLTHACPP YALAWGTNSI IVAGCDKKIV AYGKEGNVIQ TFDYSRDRAE
KEFTVAASSP SGQSIVVGSF DRLRVFNWSP RKGTWDESSP KEIPNLYTIT ALSWKKDGSR
LSVGTLCGGV EMFDCCLRRS IYKNKFEMTY VGLSQVIVRN LSTGTRVVLK SQYGYEIDEV
KVMGKDQYLV AHTSDTLLLG DLVSNKLSEV AWQGSGGNEK FFFENETVCM IFNAGELALV
EYGSNDILGS VRTEFMNPHL ISVRLNERRQ RGVEDNKKLA YLIDIKTIAI VDLVGGYNLG
TISHDSKIDW LELNETGRKL LFRDKKLRLH LYDIESSVKS TMLSFCPYVQ WVPGSDVVVA
QNRGNLCVWY TIDSPERVTM FPLKGDIVDL ERSNGKTEVI VNEGVNSISY TLDEGLIEFG
TAIDDGDYYR ATAFLETLEM SAETEAMWKT LSKLSLEAQQ LHIAERCFAA LGDVSKARFL
NETNKIADAV AKEYDGDGTD HYQVKARLAM LDKNFKLAEM YYMEQNAVDE VMEMYQELHM
WDECIAVAEG KGHPELDNLR RSYYSYLMET NQNEKAAEVK ENEGDFTGAV NLYLKAGLPA
KAAWLAMSKD ELLSSQDIVS RITAALIKGE FYERAGDLFE RTRNNQRALE CYRKGNAFKK
AVDLARVAFP AEVVKLEEVW GDYLVQQKQM DAAINHYIEA GRSIKAIEAA IAARQWKKAL
HILELQEDRT AAKYYLKIAQ YYASVQEFEV AERLFVKGDH IKDAIDMYTQ AGRWEQAHKL
AVKCMTQEDV SVLYVSRAQE LEKEGKYKEA ERLFTTVDEP DLAITMYKKN KMYDDMIRLV
AVHHKDLLQE THIHLAKELE AESRFQEAEY HYLEGQDWKA AVNMYRVNDM WEEAYRIAKT
HGGANAHKQV AYLWAKSLGG EAAVKLLNKF GLLETAIDFA ADNYTFDFAF ELARLSMKQK
IPDIHLKNAM FLEDQGKFNE AEIEFIKAGK PKEAVLMHVH NKDWSNAQRV AEAHDPESVA
DILVSQAKFC FDQKEFQKAE AFLLRAQRPE LAIKYYKDAG MWTDAMRICK DYLPSKLSVL
QKEYESEGNW GVEGMIEQAQ EWEQTGEYSR AVDCYLKVKD SSNLDLLLKC WMKAAELAIK
FLSHDKAVDV SQIVGPRLIQ LRKYNEAAEL YLNLDLIKNA IDAFIEGEEW NKAKRVAKEL
DPRLEEYVDK RYKEHLKNQG KVDSLVGVDV VAALDMYAER GQWEKCIDTA SKQNFKVLHK
YIALYATHLI KEGEVEKVLS LYIQHGVPAY SQNFNIYKRM FQELVNLRDR DCAEAFRMWS
DLRDVLLLLC ENLTKSSEAN SPAHEEFEQM LLVAHYYATR SAAKGIDQLS SVAAKLSISL
LRHTELIPAD KAFYEAGLAA KAVGWENMAF IFLNRFLDLA DGIDEGTLDA LDHTDFQDTD
IPFEVPVPSR LHVTVEKREE IREWVLTVSM DQRVEQVLPK DERGTYEASL VAASTGIRSL
PCVITGYPVL RNKIEFKRPG MAANKDDWNK FLMATKTTHS PECQDVLKFI TQWCGGLPSA
GYSFH
//
|
