Gene: Ift140

Basic information

Tag Content
Uniprot ID E9PY46; B2RSU5; Q2XQY6;
Entrez ID 106633
Genbank protein ID AAI39006.1; ABB72790.1;
Genbank nucleotide ID XM_006523403.3; NM_134126.3; XM_006523402.3;
Ensembl protein ID ENSMUSP00000024983
Ensembl nucleotide ID ENSMUSG00000024169
Gene name Intraflagellar transport protein 140 homolog
Gene symbol Ift140
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 24009529; 25807483;
Functional description Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs) (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).
Sequence
MALYFDHRIK APDTPSSPSH ITWHPTHPFL AVASISPSSG GNVDIYLEQG EPVPDTHIER 60
SFQATSLCWH PTRLILAIGW ETGEVIMFNK QDKEQHTVPL PHTTDIAILS WSTSGSCLVS 120
GDKLGVLLLW RLDQRGRVQG TPLLKHEYGK ALTHCIFRLP PPGEDLVQLA KAAVSGDEKA 180
LDMFNWRKSS FGSFLKTGSQ EGLSFFVSLM DGTVHYVDEK GKTAQVASTD SSIQTLFYIE 240
RREALVVVTE NLLLSLYVVT PEGEAEEVMK VKLSGKTGCR ADITLIEGSL LVTAIGEPVL 300
RFWDLERGEN YILSLQEKFG FEKGESINCV CFCKAKGLLA AGTNKGRVAM WKKVPSFPNG 360
RGAEGKDMWA LQTPTELEGN ITQIKWGSRK NLLAVSSTES VSILSEQAMS SHFHQQVAAV 420
QISPSLVNVS FLSTGGTHSL HTDMHISGVF ATKDAVAVWN GKQVAIFEPS GSTLRNAGTF 480
LCETSVLAMH EESIYTVEPN RLQVRTWQGT VKQLLLFSET EGSPCFLDVC GTFLVAGTDL 540
AHFKSFDLSR REAKVHCSCK NLAQLVPDVG SITSLRCNAN GNKISILLSK VNNSPDSKIY 600
IYDVEMDTVN VFNFTTGQIG QIQTLPFNEP PTNETRSFMD KSLAGYTPVN HFWDQSEPRL 660
FVCEALQEAP GAQPQAVDKQ PRVEEGTCHK EEVLILSFFA SEEHGFLLHD SFPRPSTYQS 720
LLGMEVPHYY FTKKPGEADK EDRVDSGYYH IPQMVAKRPL RDFVGLEDCD KSTRDAMLNF 780
SFFVTIGDMD EAFKSIKLIK SEAVWENMAR MCVKTQRLDV AKVCLGNMGH ARGARALREA 840
EQEPELEARV AMLAIQLGML EEAEQLYKKC KRYDLLNKFY QASDQWQKAV EVAELHDRVH 900
LRTTYYNYAK HLEASADCGQ ALSYYEKSDT HRFEVPRMLS EDLQSLELYI NRMKDKTLWR 960
WWAQYLESQA EMDTALRYYE LAQDYFSLVR IHCFQGNIQK AAEIANETGD WAASYHLARQ 1020
YESQDEVKQA VHFYTRAQAF NNAIRLCKEN GLDDQLMNLA LLSSPEDMIE AARYYEEKGE 1080
QMDRAVMLYH KAGHFSKALE LAFTTQQFAA LQLIAEDLDE KSDPALLARC SDFCIEHRQF 1140
EKAVELLLAA KKYHEALQLC LEQNMTITED MAEKMTVSKD SKDMSEESRR ELLEQIANCC 1200
MRQGNYHLAT KKYTQAGNKL KAMRALLKSG DTEKIVFFAG VSRQKEIYIM AANYLQSLDW 1260
RKEPEIMKSI ISFYTKGRAL DLLAGFYDAC AQVEIDEYQN YDKAHGALTE AYKCLSKAKT 1320
KNPLDQETKL AQLQSKMTLV KRFIQARRTY TEDPKESLRQ CELLLEEPDL DSTIRVGDVY 1380
GFLVEHHVQM EEYQMAYKYL EEMRKRLPSA NMSYYVDQRT VDTVHQGLGL LPPSRIMPER 1440
VRHNSMEDHK EVYEEVIEEV DNDP 1464

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003674 molecular_functionND

GO:Biological Process

GO ID GO Term Evidence
GO:0007368 determination of left/right symmetryIMP
GO:0007507 heart developmentIMP
GO:0008589 regulation of smoothened signaling pathwayIMP
GO:0021532 neural tube patterningIMP
GO:0031076 embryonic camera-type eye developmentIMP
GO:0035108 limb morphogenesisIMP
GO:0035721 intraciliary retrograde transportISO
GO:0035721 intraciliary retrograde transportIC
GO:0035721 intraciliary retrograde transportIBA
GO:0035721 intraciliary retrograde transportIMP
GO:0035845 photoreceptor cell outer segment organizationIMP
GO:0042073 intraciliary transportIBA
GO:0042073 intraciliary transportIMP
GO:0042733 embryonic digit morphogenesisIMP
GO:0048701 embryonic cranial skeleton morphogenesisIMP
GO:0060271 cilium assemblyISS
GO:0060271 cilium assemblyISO
GO:0060271 cilium assemblyIMP
GO:0061512 protein localization to ciliumISO
GO:1902017 regulation of cilium assemblyISO
GO:1905515 non-motile cilium assemblyIMP
GO:1990403 embryonic brain developmentIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0001750 photoreceptor outer segmentIDA
GO:0005813 centrosomeISO
GO:0005814 centrioleIDA
GO:0005929 ciliumISO
GO:0005929 ciliumIDA
GO:0005930 axonemeIDA
GO:0005930 axonemeIBA
GO:0030991 intraciliary transport particle AISO
GO:0030991 intraciliary transport particle AIDA
GO:0030991 intraciliary transport particle AIBA
GO:0032391 photoreceptor connecting ciliumIDA
GO:0036064 ciliary basal bodyISO
GO:0036064 ciliary basal bodyIBA
GO:0036064 ciliary basal bodyIDA
GO:0097730 non-motile ciliumIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-1852241 Organelle biogenesis and maintenanceIEA
R-MMU-5358351 Signaling by HedgehogIEA
R-MMU-5610787 Hedgehog 'off' stateIEA
R-MMU-5617833 Cilium AssemblyIEA
R-MMU-5620924 Intraflagellar transportIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0966 Cell projection
KW-0969 Cilium
KW-0970 Cilium biogenesis/degradation
KW-0963 Cytoplasm
KW-0206 Cytoskeleton
KW-0225 Disease mutation
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0677 Repeat
KW-0802 TPR repeat
KW-0853 WD repeat

Interpro

InterPro ID InterPro Term
IPR011990 TPR-like_helical_dom_sf
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR036322 WD40_repeat_dom_sf

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term

Protein-protein interaction