IF172_DANRE
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 03-AUG-2022, entry version 111.
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 Danionidae; Danioninae; 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 cause
RT 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., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., 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., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., 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., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT 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., Gee H.Y.,
RA McInerney-Leo A.M., Krug P., Filhol E., Davis E.E., Airik R.,
RA Czarnecki P.G., Lehman A.M., Trnka P., Nitschke P., Bole-Feysot C.,
RA Schueler M., Knebelmann B., Burtey S., Szabo A.J., Tory K., Leo P.J.,
RA Gardiner B., McKenzie F.A., Zankl A., Brown M.A., Hartley J.L., Maher E.R.,
RA Li C., Leroux M.R., Scambler P.J., Zhan S.H., Jones S.J., Kayserili H.,
RA Tuysuz B., Moorani K.N., Constantinescu A., Krantz I.D., Kaplan B.S.,
RA Shah J.V., Hurd T.W., Doherty D., Katsanis N., Duncan E.L., Otto E.A.,
RA Beales P.L., 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-tubular
CC region of the kidney similar to cystic kidney disease. Knockdown of the
CC gene with 2 morpholino oligonucleotides leads to ventral body-axis
CC curvature, formation of kidney cysts, otolith defects, and
CC hydrocephalus, as well as cartilage defects of the craniofacial
CC skeleton. Knockdown of the gene in a rhodopsin-GFP transgenic line
CC demonstrates that the level of rhodopsin-GFP is lower in ift172
CC morphants than controls, suggesting retinal degeneration. Scanning
CC electron microscopy of the olfactory placode reveales ciliogenesis
CC defects in morphants, including shortened and truncated cilia.
CC {ECO:0000269|PubMed:15269167, ECO:0000269|PubMed:24140113}.
CC -!- SIMILARITY: Belongs to the IFT172 family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AY618923; AAT39119.1; -; mRNA.
DR EMBL; BX511178; CAI20958.1; -; Genomic_DNA.
DR RefSeq; NP_001002312.1; NM_001002312.1.
DR AlphaFoldDB; 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 GeneTree; ENSGT00940000153417; -.
DR HOGENOM; CLU_002716_0_0_1; -.
DR InParanoid; Q5RHH4; -.
DR OMA; YQQLGMW; -.
DR OrthoDB; 30851at2759; -.
DR PhylomeDB; Q5RHH4; -.
DR TreeFam; TF312901; -.
DR Reactome; R-DRE-5610787; Hedgehog 'off' state.
DR Reactome; R-DRE-5620924; Intraflagellar transport.
DR PRO; PR:Q5RHH4; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 20.
DR Bgee; ENSDARG00000041870; Expressed in testis and 25 other tissues.
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; IMP:ZFIN.
DR GO; GO:0042073; P:intraciliary transport; IBA:GO_Central.
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; 2.130.10.10; -; 2.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR SMART; SM00320; WD40; 6.
DR SUPFAM; SSF50978; SSF50978; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium; Developmental protein; Reference proteome; Repeat;
KW TPR repeat; WD repeat.
FT CHAIN 1..1745
FT /note="Intraflagellar transport protein 172 homolog"
FT /id="PRO_0000328944"
FT REPEAT 14..53
FT /note="WD 1"
FT REPEAT 64..103
FT /note="WD 2"
FT REPEAT 110..148
FT /note="WD 3"
FT REPEAT 150..190
FT /note="WD 4"
FT REPEAT 195..233
FT /note="WD 5"
FT REPEAT 238..278
FT /note="WD 6"
FT REPEAT 284..323
FT /note="WD 7"
FT REPEAT 483..521
FT /note="WD 8"
FT REPEAT 522..559
FT /note="WD 9"
FT REPEAT 680..725
FT /note="WD 10"
FT REPEAT 691..725
FT /note="TPR 1"
FT REPEAT 750..784
FT /note="TPR 2"
FT REPEAT 809..842
FT /note="TPR 3"
FT REPEAT 854..887
FT /note="TPR 4"
FT REPEAT 912..945
FT /note="TPR 5"
FT REPEAT 947..971
FT /note="TPR 6"
FT REPEAT 972..1004
FT /note="TPR 7"
FT REPEAT 1042..1075
FT /note="TPR 8"
FT REPEAT 1272..1305
FT /note="TPR 9"
FT REPEAT 1328..1361
FT /note="TPR 10"
FT REPEAT 1407..1441
FT /note="TPR 11"
FT CONFLICT 436
FT /note="M -> I (in Ref. 1; AAT39119)"
FT /evidence="ECO:0000305"
FT CONFLICT 799
FT /note="V -> I (in Ref. 1; AAT39119)"
FT /evidence="ECO:0000305"
FT CONFLICT 884
FT /note="I -> T (in Ref. 1; AAT39119)"
FT /evidence="ECO:0000305"
FT CONFLICT 921
FT /note="Y -> H (in Ref. 1; AAT39119)"
FT /evidence="ECO:0000305"
FT CONFLICT 925
FT /note="V -> L (in Ref. 1; AAT39119)"
FT /evidence="ECO:0000305"
FT CONFLICT 1157
FT /note="K -> N (in Ref. 1; AAT39119)"
FT /evidence="ECO:0000305"
FT CONFLICT 1287
FT /note="E -> D (in Ref. 1; AAT39119)"
FT /evidence="ECO:0000305"
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
