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Protein

Intraflagellar transport protein 140 homolog

Gene

Ift140

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport (By similarity). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance (PubMed:22282595). Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells (PubMed:24619649).By similarity2 Publications

GO - Biological processi

Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-MMU-5610787 Hedgehog 'off' state
R-MMU-5620924 Intraflagellar transport

Names & Taxonomyi

Protein namesi
Recommended name:
Intraflagellar transport protein 140 homolog
Alternative name(s):
WD and tetratricopeptide repeats protein 2
Gene namesi
Name:Ift140Imported
Synonyms:WDTC2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 17

Organism-specific databases

MGIiMGI:2146906 Ift140

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Defects in Ift140 are the cause of cauliflower (cauli) phenotype, a mouse model for human asphyxiating thoracic dystrophy (Jeune syndrome). Embryos die at E13.5 and exhibit exencephaly, anophthalmia, severely disorganized ribs with extensive exostoses, vertebral and palatal defects, agenesis/hypoplasia of the craniofacial skeleton, and polydactyly of the hindlimbs. Cilia morphology in limb buds is severely disrupted with a broader and bulbous appearance.1 Publication

Disruption phenotypei

Mice exhibit pronounced postnatal renal cyst formation and renal failure. Significant increases in expression of canonical Wnt pathway genes and mediators of Hedgehog and tissue fibrosis seen in highly cystic, but not precystic kidneys. Disrupted cilia assembly in postnatal day 5 (P5) kidneys (PubMed:22282595). Mice exhibit cone cell degeneration and opsin accumulation in the plasma membrane of the inner segments of photoreceptor cells (PubMed:24619649).2 Publications

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00004410171 – 1464Intraflagellar transport protein 140 homologAdd BLAST1464

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1445PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiE9PY46
PaxDbiE9PY46
PRIDEiE9PY46

PTM databases

iPTMnetiE9PY46
PhosphoSitePlusiE9PY46

Expressioni

Gene expression databases

BgeeiENSMUSG00000024169 Expressed in 264 organ(s), highest expression level in fetal liver hematopoietic progenitor cell
ExpressionAtlasiE9PY46 baseline and differential
GenevisibleiE9PY46 MM

Interactioni

Subunit structurei

Component of the IFT complex A (IFT-A). Interacts with TTC25.By similarity

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000024983

Structurei

3D structure databases

ProteinModelPortaliE9PY46
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati4 – 48WD 1Add BLAST45
Repeati51 – 90WD 2Add BLAST40
Repeati93 – 132WD 3Add BLAST40
Repeati139 – 188WD 4Add BLAST50
Repeati221 – 259WD 5Add BLAST39
Repeati266 – 305WD 6Add BLAST40
Repeati322 – 361WD 7Add BLAST40
Repeati772 – 808TPR 1Sequence analysisAdd BLAST37
Repeati863 – 896TPR 2Sequence analysisAdd BLAST34
Repeati902 – 935TPR 3Sequence analysisAdd BLAST34
Repeati956 – 989TPR 4Sequence analysisAdd BLAST34
Repeati1011 – 1044TPR 5Sequence analysisAdd BLAST34
Repeati1079 – 1112TPR 6Sequence analysisAdd BLAST34
Repeati1124 – 1157TPR 7Sequence analysisAdd BLAST34
Repeati1190 – 1223TPR 8Sequence analysisAdd BLAST34

Keywords - Domaini

Repeat, TPR repeat, WD repeat

Phylogenomic databases

eggNOGiKOG3617 Eukaryota
ENOG410XSS4 LUCA
GeneTreeiENSGT00390000007515
HOGENOMiHOG000230867
HOVERGENiHBG055589
InParanoidiE9PY46
KOiK19672
OrthoDBiEOG091G00FU
TreeFamiTF105851

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR011990 TPR-like_helical_dom_sf
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR036322 WD40_repeat_dom_sf
SMARTiView protein in SMART
SM00320 WD40, 3 hits
SUPFAMiSSF48452 SSF48452, 1 hit
SSF50978 SSF50978, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

E9PY46-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MALYFDHRIK APDTPSSPSH ITWHPTHPFL AVASISPSSG GNVDIYLEQG
60 70 80 90 100
EPVPDTHIER SFQATSLCWH PTRLILAIGW ETGEVIMFNK QDKEQHTVPL
110 120 130 140 150
PHTTDIAILS WSTSGSCLVS GDKLGVLLLW RLDQRGRVQG TPLLKHEYGK
160 170 180 190 200
ALTHCIFRLP PPGEDLVQLA KAAVSGDEKA LDMFNWRKSS FGSFLKTGSQ
210 220 230 240 250
EGLSFFVSLM DGTVHYVDEK GKTAQVASTD SSIQTLFYIE RREALVVVTE
260 270 280 290 300
NLLLSLYVVT PEGEAEEVMK VKLSGKTGCR ADITLIEGSL LVTAIGEPVL
310 320 330 340 350
RFWDLERGEN YILSLQEKFG FEKGESINCV CFCKAKGLLA AGTNKGRVAM
360 370 380 390 400
WKKVPSFPNG RGAEGKDMWA LQTPTELEGN ITQIKWGSRK NLLAVSSTES
410 420 430 440 450
VSILSEQAMS SHFHQQVAAV QISPSLVNVS FLSTGGTHSL HTDMHISGVF
460 470 480 490 500
ATKDAVAVWN GKQVAIFEPS GSTLRNAGTF LCETSVLAMH EESIYTVEPN
510 520 530 540 550
RLQVRTWQGT VKQLLLFSET EGSPCFLDVC GTFLVAGTDL AHFKSFDLSR
560 570 580 590 600
REAKVHCSCK NLAQLVPDVG SITSLRCNAN GNKISILLSK VNNSPDSKIY
610 620 630 640 650
IYDVEMDTVN VFNFTTGQIG QIQTLPFNEP PTNETRSFMD KSLAGYTPVN
660 670 680 690 700
HFWDQSEPRL FVCEALQEAP GAQPQAVDKQ PRVEEGTCHK EEVLILSFFA
710 720 730 740 750
SEEHGFLLHD SFPRPSTYQS LLGMEVPHYY FTKKPGEADK EDRVDSGYYH
760 770 780 790 800
IPQMVAKRPL RDFVGLEDCD KSTRDAMLNF SFFVTIGDMD EAFKSIKLIK
810 820 830 840 850
SEAVWENMAR MCVKTQRLDV AKVCLGNMGH ARGARALREA EQEPELEARV
860 870 880 890 900
AMLAIQLGML EEAEQLYKKC KRYDLLNKFY QASDQWQKAV EVAELHDRVH
910 920 930 940 950
LRTTYYNYAK HLEASADCGQ ALSYYEKSDT HRFEVPRMLS EDLQSLELYI
960 970 980 990 1000
NRMKDKTLWR WWAQYLESQA EMDTALRYYE LAQDYFSLVR IHCFQGNIQK
1010 1020 1030 1040 1050
AAEIANETGD WAASYHLARQ YESQDEVKQA VHFYTRAQAF NNAIRLCKEN
1060 1070 1080 1090 1100
GLDDQLMNLA LLSSPEDMIE AARYYEEKGE QMDRAVMLYH KAGHFSKALE
1110 1120 1130 1140 1150
LAFTTQQFAA LQLIAEDLDE KSDPALLARC SDFCIEHRQF EKAVELLLAA
1160 1170 1180 1190 1200
KKYHEALQLC LEQNMTITED MAEKMTVSKD SKDMSEESRR ELLEQIANCC
1210 1220 1230 1240 1250
MRQGNYHLAT KKYTQAGNKL KAMRALLKSG DTEKIVFFAG VSRQKEIYIM
1260 1270 1280 1290 1300
AANYLQSLDW RKEPEIMKSI ISFYTKGRAL DLLAGFYDAC AQVEIDEYQN
1310 1320 1330 1340 1350
YDKAHGALTE AYKCLSKAKT KNPLDQETKL AQLQSKMTLV KRFIQARRTY
1360 1370 1380 1390 1400
TEDPKESLRQ CELLLEEPDL DSTIRVGDVY GFLVEHHVQM EEYQMAYKYL
1410 1420 1430 1440 1450
EEMRKRLPSA NMSYYVDQRT VDTVHQGLGL LPPSRIMPER VRHNSMEDHK
1460
EVYEEVIEEV DNDP
Length:1,464
Mass (Da):165,875
Last modified:April 5, 2011 - v1
Checksum:iE564F9AD816950C5
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9Q682E9Q682_MOUSE
Intraflagellar transport protein 14...
Ift140
1,232Annotation score:
E9Q925E9Q925_MOUSE
Intraflagellar transport protein 14...
Ift140
224Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti198G → R in ABB72790 (Ref. 1) Curated1
Sequence conflicti508Q → E in ABB72790 (Ref. 1) Curated1
Sequence conflicti624T → A in ABB72790 (Ref. 1) Curated1
Sequence conflicti1051G → S in AAI39006 (PubMed:15489334).Curated1
Sequence conflicti1051G → S in ABB72790 (Ref. 1) Curated1
Sequence conflicti1304A → V in ABB72790 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti855I → K in cauli. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ266093 mRNA Translation: ABB72790.1
AC130711 Genomic DNA No translation available.
AC154229 Genomic DNA No translation available.
BC139005 mRNA Translation: AAI39006.1
CCDSiCCDS28505.1
RefSeqiNP_598887.3, NM_134126.3
XP_006523465.1, XM_006523402.3
XP_006523466.1, XM_006523403.3
UniGeneiMm.32802

Genome annotation databases

EnsembliENSMUST00000024983; ENSMUSP00000024983; ENSMUSG00000024169
GeneIDi106633
KEGGimmu:106633
UCSCiuc008azm.2 mouse

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ266093 mRNA Translation: ABB72790.1
AC130711 Genomic DNA No translation available.
AC154229 Genomic DNA No translation available.
BC139005 mRNA Translation: AAI39006.1
CCDSiCCDS28505.1
RefSeqiNP_598887.3, NM_134126.3
XP_006523465.1, XM_006523402.3
XP_006523466.1, XM_006523403.3
UniGeneiMm.32802

3D structure databases

ProteinModelPortaliE9PY46
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000024983

PTM databases

iPTMnetiE9PY46
PhosphoSitePlusiE9PY46

Proteomic databases

MaxQBiE9PY46
PaxDbiE9PY46
PRIDEiE9PY46

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000024983; ENSMUSP00000024983; ENSMUSG00000024169
GeneIDi106633
KEGGimmu:106633
UCSCiuc008azm.2 mouse

Organism-specific databases

CTDi9742
MGIiMGI:2146906 Ift140

Phylogenomic databases

eggNOGiKOG3617 Eukaryota
ENOG410XSS4 LUCA
GeneTreeiENSGT00390000007515
HOGENOMiHOG000230867
HOVERGENiHBG055589
InParanoidiE9PY46
KOiK19672
OrthoDBiEOG091G00FU
TreeFamiTF105851

Enzyme and pathway databases

ReactomeiR-MMU-5610787 Hedgehog 'off' state
R-MMU-5620924 Intraflagellar transport

Miscellaneous databases

ChiTaRSiIft140 mouse
PROiPR:E9PY46
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000024169 Expressed in 264 organ(s), highest expression level in fetal liver hematopoietic progenitor cell
ExpressionAtlasiE9PY46 baseline and differential
GenevisibleiE9PY46 MM

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR011990 TPR-like_helical_dom_sf
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR036322 WD40_repeat_dom_sf
SMARTiView protein in SMART
SM00320 WD40, 3 hits
SUPFAMiSSF48452 SSF48452, 1 hit
SSF50978 SSF50978, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiIF140_MOUSE
AccessioniPrimary (citable) accession number: E9PY46
Secondary accession number(s): B2RSU5, Q2XQY6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2017
Last sequence update: April 5, 2011
Last modified: November 7, 2018
This is version 64 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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