IF140_MOUSE
ID IF140_MOUSE Reviewed; 1464 AA.
AC E9PY46; B2RSU5; Q2XQY6;
DT 05-JUL-2017, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 1.
DT 03-AUG-2022, entry version 83.
DE RecName: Full=Intraflagellar transport protein 140 homolog {ECO:0000305};
DE AltName: Full=WD and tetratricopeptide repeats protein 2;
GN Name=Ift140 {ECO:0000312|MGI:MGI:2146906}; Synonyms=WDTC2;
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 [MRNA].
RC STRAIN=C57BL/6J;
RA Pazour G.J., Walker B.L., Hoog C.;
RT "Mouse intraflagellar transport protein IFT140.";
RL Submitted (OCT-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC 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 [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Kidney, 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 [5]
RP FUNCTION, DISRUPTION PHENOTYPE, AND SUBCELLULAR LOCATION.
RX PubMed=22282595; DOI=10.1681/asn.2011080829;
RA Jonassen J.A., SanAgustin J., Baker S.P., Pazour G.J.;
RT "Disruption of IFT complex A causes cystic kidneys without mitotic spindle
RT misorientation.";
RL J. Am. Soc. Nephrol. 23:641-651(2012).
RN [6]
RP VARIANT CAULI LYS-855, AND SUBCELLULAR LOCATION.
RX PubMed=24009529; DOI=10.1371/journal.pgen.1003746;
RA Miller K.A., Ah-Cann C.J., Welfare M.F., Tan T.Y., Pope K., Caruana G.,
RA Freckmann M.L., Savarirayan R., Bertram J.F., Dobbie M.S., Bateman J.F.,
RA Farlie P.G.;
RT "Cauli: a mouse strain with an Ift140 mutation that results in a skeletal
RT ciliopathy modelling Jeune syndrome.";
RL PLoS Genet. 9:E1003746-E1003746(2013).
RN [7]
RP FUNCTION, DISRUPTION PHENOTYPE, AND SUBCELLULAR LOCATION.
RX PubMed=24619649; DOI=10.1002/cm.21173;
RA Crouse J.A., Lopes V.S., Sanagustin J.T., Keady B.T., Williams D.S.,
RA Pazour G.J.;
RT "Distinct functions for IFT140 and IFT20 in opsin transport.";
RL Cytoskeleton 71:302-310(2014).
CC -!- FUNCTION: Component of the IFT complex A (IFT-A), a complex required
CC for retrograde ciliary transport and entry into cilia of G protein-
CC coupled receptors (GPCRs) (By similarity). Plays a pivotal role in
CC proper development and function of ciliated cells through its role in
CC ciliogenesis and/or cilium maintenance (PubMed:22282595). Required for
CC the development and maintenance of the outer segments of rod and cone
CC photoreceptor cells. Plays a role in maintenance and the delivery of
CC opsin to the outer segment of photoreceptor cells (PubMed:24619649).
CC {ECO:0000250|UniProtKB:Q96RY7, ECO:0000269|PubMed:22282595,
CC ECO:0000269|PubMed:24619649}.
CC -!- SUBUNIT: Component of the IFT complex A (IFT-A). IFT-A complex is
CC divided into a core subcomplex composed of IFT122:IFT140:WDR19 which is
CC associated with TULP3 and a peripheral subcomplex composed of
CC IFT43:WDR35:TTC21B. Interacts (via C-terminal region) with IFT122 (via
CC C-terminal region). Interacts with TTC25. Interacts with TTC21A.
CC {ECO:0000250|UniProtKB:Q96RY7}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000269|PubMed:22282595, ECO:0000269|PubMed:24009529,
CC ECO:0000269|PubMed:24619649}. Cytoplasm, cytoskeleton, microtubule
CC organizing center, centrosome {ECO:0000250|UniProtKB:Q96RY7}. Cell
CC projection, cilium {ECO:0000269|PubMed:22282595,
CC ECO:0000269|PubMed:24009529, ECO:0000269|PubMed:24619649}.
CC -!- DISEASE: Note=Defects in Ift140 are the cause of cauliflower (cauli)
CC phenotype, a mouse model for human asphyxiating thoracic dystrophy
CC (Jeune syndrome). Embryos die at 13.5 dpc and exhibit exencephaly,
CC anophthalmia, severely disorganized ribs with extensive exostoses,
CC vertebral and palatal defects, agenesis/hypoplasia of the craniofacial
CC skeleton, and polydactyly of the hindlimbs. Cilia morphology in limb
CC buds is severely disrupted with a broader and bulbous appearance.
CC {ECO:0000269|PubMed:24009529}.
CC -!- DISRUPTION PHENOTYPE: Mice exhibit pronounced postnatal renal cyst
CC formation and renal failure. Significant increases in expression of
CC canonical Wnt pathway genes and mediators of Hedgehog and tissue
CC fibrosis seen in highly cystic, but not precystic kidneys. Disrupted
CC cilia assembly in postnatal day 5 (P5) kidneys (PubMed:22282595). Mice
CC exhibit cone cell degeneration and opsin accumulation in the plasma
CC membrane of the inner segments of photoreceptor cells
CC (PubMed:24619649). {ECO:0000269|PubMed:22282595,
CC ECO:0000269|PubMed:24619649}.
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DR EMBL; DQ266093; ABB72790.1; -; mRNA.
DR EMBL; AC130711; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC154229; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC139005; AAI39006.1; -; mRNA.
DR CCDS; CCDS28505.1; -.
DR RefSeq; NP_598887.3; NM_134126.3.
DR RefSeq; XP_006523465.1; XM_006523402.3.
DR RefSeq; XP_006523466.1; XM_006523403.3.
DR AlphaFoldDB; E9PY46; -.
DR SMR; E9PY46; -.
DR ComplexPortal; CPX-5027; IFT-A complex.
DR STRING; 10090.ENSMUSP00000024983; -.
DR iPTMnet; E9PY46; -.
DR PhosphoSitePlus; E9PY46; -.
DR EPD; E9PY46; -.
DR MaxQB; E9PY46; -.
DR PaxDb; E9PY46; -.
DR PRIDE; E9PY46; -.
DR ProteomicsDB; 266944; -.
DR Antibodypedia; 23147; 79 antibodies from 20 providers.
DR Ensembl; ENSMUST00000024983; ENSMUSP00000024983; ENSMUSG00000024169.
DR GeneID; 106633; -.
DR KEGG; mmu:106633; -.
DR UCSC; uc008azm.2; mouse.
DR CTD; 9742; -.
DR MGI; MGI:2146906; Ift140.
DR VEuPathDB; HostDB:ENSMUSG00000024169; -.
DR eggNOG; KOG3617; Eukaryota.
DR GeneTree; ENSGT00940000153417; -.
DR HOGENOM; CLU_001853_1_0_1; -.
DR InParanoid; E9PY46; -.
DR OMA; RMCVKTK; -.
DR OrthoDB; 41516at2759; -.
DR PhylomeDB; E9PY46; -.
DR TreeFam; TF105851; -.
DR Reactome; R-MMU-5610787; Hedgehog 'off' state.
DR Reactome; R-MMU-5620924; Intraflagellar transport.
DR BioGRID-ORCS; 106633; 3 hits in 72 CRISPR screens.
DR ChiTaRS; Ift140; mouse.
DR PRO; PR:E9PY46; -.
DR Proteomes; UP000000589; Chromosome 17.
DR RNAct; E9PY46; protein.
DR Bgee; ENSMUSG00000024169; Expressed in fetal liver hematopoietic progenitor cell and 240 other tissues.
DR ExpressionAtlas; E9PY46; baseline and differential.
DR Genevisible; E9PY46; MM.
DR GO; GO:0005930; C:axoneme; IDA:UniProtKB.
DR GO; GO:0005814; C:centriole; IDA:MGI.
DR GO; GO:0005813; C:centrosome; ISO:MGI.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0005929; C:cilium; IDA:BHF-UCL.
DR GO; GO:0120199; C:cone photoreceptor outer segment; IDA:MGI.
DR GO; GO:0030991; C:intraciliary transport particle A; IDA:MGI.
DR GO; GO:0097730; C:non-motile cilium; IDA:MGI.
DR GO; GO:0032391; C:photoreceptor connecting cilium; IDA:MGI.
DR GO; GO:0060271; P:cilium assembly; IMP:MGI.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:MGI.
DR GO; GO:1990403; P:embryonic brain development; IMP:MGI.
DR GO; GO:0031076; P:embryonic camera-type eye development; IMP:MGI.
DR GO; GO:0048701; P:embryonic cranial skeleton morphogenesis; IMP:MGI.
DR GO; GO:0042733; P:embryonic digit morphogenesis; IMP:MGI.
DR GO; GO:0007507; P:heart development; IMP:MGI.
DR GO; GO:0035721; P:intraciliary retrograde transport; IMP:MGI.
DR GO; GO:0042073; P:intraciliary transport; IMP:MGI.
DR GO; GO:0035108; P:limb morphogenesis; IMP:MGI.
DR GO; GO:0021532; P:neural tube patterning; IMP:MGI.
DR GO; GO:1905515; P:non-motile cilium assembly; IMP:MGI.
DR GO; GO:0035845; P:photoreceptor cell outer segment organization; IMP:MGI.
DR GO; GO:0061512; P:protein localization to cilium; ISO:MGI.
DR GO; GO:1902017; P:regulation of cilium assembly; ISO:MGI.
DR GO; GO:0008589; P:regulation of smoothened signaling pathway; IMP:MGI.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
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; 3.
DR SUPFAM; SSF48452; SSF48452; 1.
DR SUPFAM; SSF50978; SSF50978; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cilium biogenesis/degradation; Cytoplasm;
KW Cytoskeleton; Disease variant; Phosphoprotein; Reference proteome; Repeat;
KW TPR repeat; WD repeat.
FT CHAIN 1..1464
FT /note="Intraflagellar transport protein 140 homolog"
FT /id="PRO_0000441017"
FT REPEAT 4..48
FT /note="WD 1"
FT REPEAT 51..90
FT /note="WD 2"
FT REPEAT 93..132
FT /note="WD 3"
FT REPEAT 139..188
FT /note="WD 4"
FT REPEAT 221..259
FT /note="WD 5"
FT REPEAT 266..305
FT /note="WD 6"
FT REPEAT 322..361
FT /note="WD 7"
FT REPEAT 772..808
FT /note="TPR 1"
FT /evidence="ECO:0000255"
FT REPEAT 863..896
FT /note="TPR 2"
FT /evidence="ECO:0000255"
FT REPEAT 902..935
FT /note="TPR 3"
FT /evidence="ECO:0000255"
FT REPEAT 956..989
FT /note="TPR 4"
FT /evidence="ECO:0000255"
FT REPEAT 1011..1044
FT /note="TPR 5"
FT /evidence="ECO:0000255"
FT REPEAT 1079..1112
FT /note="TPR 6"
FT /evidence="ECO:0000255"
FT REPEAT 1124..1157
FT /note="TPR 7"
FT /evidence="ECO:0000255"
FT REPEAT 1190..1223
FT /note="TPR 8"
FT /evidence="ECO:0000255"
FT MOD_RES 1445
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q96RY7"
FT VARIANT 855
FT /note="I -> K (in cauli)"
FT /evidence="ECO:0000269|PubMed:24009529"
FT CONFLICT 198
FT /note="G -> R (in Ref. 1; ABB72790)"
FT /evidence="ECO:0000305"
FT CONFLICT 508
FT /note="Q -> E (in Ref. 1; ABB72790)"
FT /evidence="ECO:0000305"
FT CONFLICT 624
FT /note="T -> A (in Ref. 1; ABB72790)"
FT /evidence="ECO:0000305"
FT CONFLICT 1051
FT /note="G -> S (in Ref. 3; AAI39006 and 1; ABB72790)"
FT /evidence="ECO:0000305"
FT CONFLICT 1304
FT /note="A -> V (in Ref. 1; ABB72790)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1464 AA; 165875 MW; E564F9AD816950C5 CRC64;
MALYFDHRIK APDTPSSPSH ITWHPTHPFL AVASISPSSG GNVDIYLEQG EPVPDTHIER
SFQATSLCWH PTRLILAIGW ETGEVIMFNK QDKEQHTVPL PHTTDIAILS WSTSGSCLVS
GDKLGVLLLW RLDQRGRVQG TPLLKHEYGK ALTHCIFRLP PPGEDLVQLA KAAVSGDEKA
LDMFNWRKSS FGSFLKTGSQ EGLSFFVSLM DGTVHYVDEK GKTAQVASTD SSIQTLFYIE
RREALVVVTE NLLLSLYVVT PEGEAEEVMK VKLSGKTGCR ADITLIEGSL LVTAIGEPVL
RFWDLERGEN YILSLQEKFG FEKGESINCV CFCKAKGLLA AGTNKGRVAM WKKVPSFPNG
RGAEGKDMWA LQTPTELEGN ITQIKWGSRK NLLAVSSTES VSILSEQAMS SHFHQQVAAV
QISPSLVNVS FLSTGGTHSL HTDMHISGVF ATKDAVAVWN GKQVAIFEPS GSTLRNAGTF
LCETSVLAMH EESIYTVEPN RLQVRTWQGT VKQLLLFSET EGSPCFLDVC GTFLVAGTDL
AHFKSFDLSR REAKVHCSCK NLAQLVPDVG SITSLRCNAN GNKISILLSK VNNSPDSKIY
IYDVEMDTVN VFNFTTGQIG QIQTLPFNEP PTNETRSFMD KSLAGYTPVN HFWDQSEPRL
FVCEALQEAP GAQPQAVDKQ PRVEEGTCHK EEVLILSFFA SEEHGFLLHD SFPRPSTYQS
LLGMEVPHYY FTKKPGEADK EDRVDSGYYH IPQMVAKRPL RDFVGLEDCD KSTRDAMLNF
SFFVTIGDMD EAFKSIKLIK SEAVWENMAR MCVKTQRLDV AKVCLGNMGH ARGARALREA
EQEPELEARV AMLAIQLGML EEAEQLYKKC KRYDLLNKFY QASDQWQKAV EVAELHDRVH
LRTTYYNYAK HLEASADCGQ ALSYYEKSDT HRFEVPRMLS EDLQSLELYI NRMKDKTLWR
WWAQYLESQA EMDTALRYYE LAQDYFSLVR IHCFQGNIQK AAEIANETGD WAASYHLARQ
YESQDEVKQA VHFYTRAQAF NNAIRLCKEN GLDDQLMNLA LLSSPEDMIE AARYYEEKGE
QMDRAVMLYH KAGHFSKALE LAFTTQQFAA LQLIAEDLDE KSDPALLARC SDFCIEHRQF
EKAVELLLAA KKYHEALQLC LEQNMTITED MAEKMTVSKD SKDMSEESRR ELLEQIANCC
MRQGNYHLAT KKYTQAGNKL KAMRALLKSG DTEKIVFFAG VSRQKEIYIM AANYLQSLDW
RKEPEIMKSI ISFYTKGRAL DLLAGFYDAC AQVEIDEYQN YDKAHGALTE AYKCLSKAKT
KNPLDQETKL AQLQSKMTLV KRFIQARRTY TEDPKESLRQ CELLLEEPDL DSTIRVGDVY
GFLVEHHVQM EEYQMAYKYL EEMRKRLPSA NMSYYVDQRT VDTVHQGLGL LPPSRIMPER
VRHNSMEDHK EVYEEVIEEV DNDP
