IFT56_MOUSE
ID IFT56_MOUSE Reviewed; 554 AA.
AC Q8BS45;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Intraflagellar transport protein 56 {ECO:0000303|PubMed:24596149};
DE AltName: Full=Protein hop-sterile {ECO:0000303|PubMed:25340710};
DE AltName: Full=Tetratricopeptide repeat protein 26 {ECO:0000312|MGI:MGI:2444853};
DE Short=TPR repeat protein 26 {ECO:0000312|MGI:MGI:2444853};
GN Name=Ttc26 {ECO:0000312|MGI:MGI:2444853};
GN Synonyms=Hop {ECO:0000303|PubMed:25340710},
GN Ift56 {ECO:0000303|PubMed:24596149};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Embryo;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Pancreas, and Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [4]
RP TISSUE SPECIFICITY, FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=22718903; DOI=10.1091/mbc.e12-01-0019;
RA Zhang Q., Liu Q., Austin C., Drummond I., Pierce E.A.;
RT "Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and
RT the pronephros in zebrafish.";
RL Mol. Biol. Cell 23:3069-3078(2012).
RN [5]
RP SUBCELLULAR LOCATION, AND IDENTIFICATION IN THE IFT COMPLEX B.
RX PubMed=24596149; DOI=10.7554/elife.01566;
RA Ishikawa H., Ide T., Yagi T., Jiang X., Hirono M., Sasaki H.,
RA Yanagisawa H., Wemmer K.A., Stainier D.Y., Qin H., Kamiya R.,
RA Marshall W.F.;
RT "TTC26/DYF13 is an intraflagellar transport protein required for transport
RT of motility-related proteins into flagella.";
RL Elife 3:E01566-E01566(2014).
RN [6]
RP ERRATUM OF PUBMED:24596149.
RX PubMed=24692455; DOI=10.7554/elife.02897;
RA Ishikawa H., Ide T., Yagi T., Jiang X., Hirono M., Sasaki H.,
RA Yanagisawa H., Wemmer K.A., Stainier D.Y., Qin H., Kamiya R.,
RA Marshall W.F.;
RL Elife 3:E02897-E02897(2014).
RN [7]
RP FUNCTION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE, IDENTIFICATION IN THE
RP IFT COMPLEX B, AND INTERACTION WITH IFT46.
RX PubMed=25340710; DOI=10.1371/journal.pgen.1004689;
RA Swiderski R.E., Nakano Y., Mullins R.F., Seo S., Banfi B.;
RT "A mutation in the mouse ttc26 gene leads to impaired hedgehog signaling.";
RL PLoS Genet. 10:E1004689-E1004689(2014).
RN [8]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=28264835; DOI=10.1242/dev.143255;
RA Xin D., Christopher K.J., Zeng L., Kong Y., Weatherbee S.D.;
RT "IFT56 regulates vertebrate developmental patterning by maintaining IFTB
RT complex integrity and ciliary microtubule architecture.";
RL Development 144:1544-1553(2017).
RN [9]
RP DEVELOPMENTAL STAGE, AND TISSUE SPECIFICITY.
RX PubMed=31595528; DOI=10.1002/hep.30982;
RA Shaheen R., Alsahli S., Ewida N., Alzahrani F., Shamseldin H.E., Patel N.,
RA Al Qahtani A., Alhebbi H., Alhashem A., Al-Sheddi T., Alomar R.,
RA Alobeid E., Abouelhoda M., Monies D., Al-Hussaini A., Alzouman M.A.,
RA Shagrani M., Faqeih E., Alkuraya F.S.;
RT "Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar
RT Transport 56) Cause Severe Biliary Ciliopathy in Humans.";
RL Hepatology 71:2067-2079(2020).
CC -!- FUNCTION: Component of the intraflagellar transport (IFT) complex B
CC required for transport of proteins in the motile cilium. Required for
CC transport of specific ciliary cargo proteins related to motility, while
CC it is neither required for IFT complex B assembly or motion nor for
CC cilium assembly. Required for efficient coupling between the
CC accumulation of GLI2 and GLI3 at the ciliary tips and their
CC dissociation from the negative regulator SUFU (PubMed:22718903,
CC PubMed:25340710). Plays a key role in maintaining the integrity of the
CC IFT complex B and the proper ciliary localization of the IFT complex B
CC components. Not required for IFT complex A ciliary localization or
CC function. Essential for maintaining proper microtubule organization
CC within the ciliary axoneme (PubMed:28264835).
CC {ECO:0000269|PubMed:22718903, ECO:0000269|PubMed:25340710,
CC ECO:0000269|PubMed:28264835}.
CC -!- SUBUNIT: Component of the IFT complex B. Interacts with IFT46; the
CC interaction is direct. {ECO:0000269|PubMed:24596149}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000269|PubMed:22718903, ECO:0000269|PubMed:24596149}.
CC Note=Localizes at the base to the ciliary transition zone.
CC {ECO:0000269|PubMed:22718903, ECO:0000269|PubMed:24596149}.
CC -!- TISSUE SPECIFICITY: High expression detected in testis. Detected also
CC retina, kidney, lung and brain tissue. The expression level is low in
CC spleen (PubMed:22718903). Expressed in the developing liver
CC (PubMed:31595528). Present in the airway epithelial cells and the
CC testes (at protein level) (PubMed:25340710).
CC {ECO:0000269|PubMed:22718903, ECO:0000269|PubMed:25340710,
CC ECO:0000269|PubMed:31595528}.
CC -!- DEVELOPMENTAL STAGE: Expressed during early development stages (12.5
CC dpc, 13.5 dpc, and 14.5 dpc). {ECO:0000269|PubMed:31595528}.
CC -!- DISRUPTION PHENOTYPE: Partial embryonic lethality and patterning
CC defects. Surviving mice show hopping gait, polydactyly, hydrocephalus,
CC and male sterility. Impaired hedgehog signaling. Primary cilia are not
CC reduced in number and their length is normal (PubMed:25340710). Mice
CC exhibit defective cilia structure, including abnormal positioning and
CC number of ciliary microtubule doublets, abnormal localization of IFT
CC complex B components and significantly reduced ciliary tip accumulation
CC of proteins GLI2 and GLI3 (PubMed:28264835).
CC {ECO:0000269|PubMed:25340710, ECO:0000269|PubMed:28264835}.
CC -!- SIMILARITY: Belongs to the IFT56 family. {ECO:0000305}.
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DR EMBL; AK035185; BAC28974.1; -; mRNA.
DR EMBL; BC066060; AAH66060.1; -; mRNA.
DR CCDS; CCDS51750.1; -.
DR RefSeq; NP_705828.2; NM_153600.2.
DR AlphaFoldDB; Q8BS45; -.
DR SMR; Q8BS45; -.
DR BioGRID; 234458; 3.
DR ComplexPortal; CPX-5028; IFT-B complex.
DR IntAct; Q8BS45; 2.
DR MINT; Q8BS45; -.
DR STRING; 10090.ENSMUSP00000124369; -.
DR iPTMnet; Q8BS45; -.
DR PhosphoSitePlus; Q8BS45; -.
DR MaxQB; Q8BS45; -.
DR PaxDb; Q8BS45; -.
DR PRIDE; Q8BS45; -.
DR ProteomicsDB; 267285; -.
DR Antibodypedia; 52471; 100 antibodies from 18 providers.
DR DNASU; 264134; -.
DR Ensembl; ENSMUST00000162554; ENSMUSP00000124369; ENSMUSG00000056832.
DR GeneID; 264134; -.
DR KEGG; mmu:264134; -.
DR UCSC; uc009bkc.1; mouse.
DR CTD; 79989; -.
DR MGI; MGI:2444853; Ttc26.
DR VEuPathDB; HostDB:ENSMUSG00000056832; -.
DR eggNOG; KOG3785; Eukaryota.
DR GeneTree; ENSGT00390000000159; -.
DR HOGENOM; CLU_036306_2_0_1; -.
DR InParanoid; Q8BS45; -.
DR OMA; FIIRRDY; -.
DR OrthoDB; 383516at2759; -.
DR PhylomeDB; Q8BS45; -.
DR TreeFam; TF105816; -.
DR Reactome; R-MMU-5620924; Intraflagellar transport.
DR BioGRID-ORCS; 264134; 4 hits in 72 CRISPR screens.
DR ChiTaRS; Ttc26; mouse.
DR PRO; PR:Q8BS45; -.
DR Proteomes; UP000000589; Chromosome 6.
DR RNAct; Q8BS45; protein.
DR Bgee; ENSMUSG00000056832; Expressed in spermatocyte and 196 other tissues.
DR ExpressionAtlas; Q8BS45; baseline and differential.
DR Genevisible; Q8BS45; MM.
DR GO; GO:0005813; C:centrosome; IDA:MGI.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0097546; C:ciliary base; IBA:GO_Central.
DR GO; GO:0005929; C:cilium; IDA:UniProtKB.
DR GO; GO:0030992; C:intraciliary transport particle B; IDA:UniProtKB.
DR GO; GO:0043005; C:neuron projection; IDA:MGI.
DR GO; GO:0120170; F:intraciliary transport particle B binding; IDA:MGI.
DR GO; GO:0035082; P:axoneme assembly; IMP:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0035720; P:intraciliary anterograde transport; IBA:GO_Central.
DR GO; GO:0042073; P:intraciliary transport; IMP:UniProtKB.
DR GO; GO:0035735; P:intraciliary transport involved in cilium assembly; IBA:GO_Central.
DR GO; GO:1905198; P:manchette assembly; IMP:MGI.
DR GO; GO:0046530; P:photoreceptor cell differentiation; ISO:MGI.
DR GO; GO:0008594; P:photoreceptor cell morphogenesis; ISO:MGI.
DR GO; GO:0061512; P:protein localization to cilium; IMP:UniProtKB.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR GO; GO:0007224; P:smoothened signaling pathway; IMP:UniProtKB.
DR GO; GO:0007286; P:spermatid development; IMP:MGI.
DR Gene3D; 1.25.40.10; -; 3.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR030511; TTC26.
DR PANTHER; PTHR14781; PTHR14781; 1.
DR SUPFAM; SSF48452; SSF48452; 3.
DR PROSITE; PS50293; TPR_REGION; 2.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Protein transport; Reference proteome; Repeat;
KW TPR repeat; Transport.
FT CHAIN 1..554
FT /note="Intraflagellar transport protein 56"
FT /id="PRO_0000289084"
FT REPEAT 57..90
FT /note="TPR 1"
FT REPEAT 92..125
FT /note="TPR 2"
FT REPEAT 151..184
FT /note="TPR 3"
FT REPEAT 468..501
FT /note="TPR 4"
FT REGION 1..27
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 554 AA; 64151 MW; C126B8B129EA1306 CRC64;
MMLSRAKPAV GGESPHTDKR KKKGRKIPKL EDLLSQRDFT GAITLLEFKR HVGEQEDDTN
LWIGYCAFHL GDYKRALEEY ENATKEENCN PEVWVNLACT YFFLGMYKQA EAAGFKAPKS
RLQNRLLFHL AHKFNDEKKL MNFHQNLQDI KEDQLSLASI HYMRSHYQEA IDIYKRILLD
NREYLALNVY VALCYYKLDY YDVSQEVLAV YLQQIPDSTI ALNLKACNHF RLYNGKAAEA
ELKSLMDNAS SPFEFAKELI RHNLVVFRGG EGALQVLPPL VDVIPEARLN LVIYYLRQDD
VQEAYNLIKD LEPTTPQEYI LKGVVNAALG QEMGSRDHMK IAQQFFQLVG GSASECDTIP
GRQCMASCFF LLKQFDDVLI YLNSFKSYFY NDDIFNFNYA QAKAATGNTS EGEEVFLLIQ
SEKLKNDYIY LSWLARCYIM NKKPRLAWEL YLKMETSGES FSLLQLIAND CYKMGQFYYS
AKAFDVLERL DPNPEYWEGK RGACVGIFQM ILAGREPKET LREVLHLLRS TGNTQVEYII
RIMKKWAKEN RVPI
