Gene: Ift172

Basic information

Tag Content
Uniprot ID Q6VH22; Q6NZK1; Q80TI4; Q80W19; Q9DAB0;
Entrez ID 67661
Genbank protein ID AAR05390.1; AAH66096.1; BAC65743.3; AAH51928.1; BAB24362.1; AAH60948.1;
Genbank nucleotide ID NM_026298.5
Ensembl protein ID ENSMUSP00000049335
Ensembl nucleotide ID ENSMUSG00000038564
Gene name Intraflagellar transport protein 172 homolog
Gene symbol Ift172
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 21653639
Functional description Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway.
Sequence
MQLKHLRTLL SPQDGAAKVT CMAWSQNNAK FAVCTVDRVV LLYDEHGERR DKFSTKPADM 60
KYGRKSYMVK GMAFSPDSTK IAIGQTDNII YVYKIGEDWG DKKVICNKFI QTSAVTCLQW 120
PAEYVIVFGL AEGKVRLANT KTNKSSTIYG TESYVVALTT NCSGKGILSG HADGTIVRYF 180
FDDEGSGESQ GKLVNHPCPP YALAWATNSI VAAGCDRRIV AYGKEGHVLQ TFDYSRDPQE 240
REFTTAAASP GGQSVVLGSY DRLRVFNWSP RRSIWEEAKP KEIANLYTVT ALAWKRDGSR 300
LCAGTLCGGV EQFDCCLRRS IYKNKFELTY VGPSQVIVKN LSSGTRVVLK SHYGYEVEEV 360
KILGKERYLV AHTSDTLLLG DLNTNRLSEI AWQGSGGNEK YFFENENVCM IFNAGELTLV 420
EYGSNDSLGS VRTEFMNPHL ISVRINERCQ RGMEDNKKLA YLVDIKTIAI VDLIGGYNIG 480
TISHESRVDW LELNETGHKL LFRDRKLRLH LYDIESCSKT MILNFCSYVQ WVPGSDVLVA 540
QNRNSLCVWY NIEAPERVTM SSIRGDVVGL ERGGGKTEVM VTEGVTTVAY TLDEGLIEFG 600
TAIDDGNYTR ATAFLETLEM TPETEAMWKT LSKLALEARQ LHTAERCFSA LGHVAKARFL 660
HETNEIADQV SREYGGEGTD FYQVRARLAM LEKNYKLAEM IFLEQNAVEE AMDMYQELHR 720
WEECIAVAEA KGHPALEKLR RDYYQWLMDT QQEERAGELQ ESQGDGLAAI SLYLKAGLPA 780
KAARLVLTRE ELLANTELVE HITTALIKGE LYERAGDLFE KIRNPQRALE CYCKGNAFMK 840
AVELARLAFP VEVVRLEEAW GDHLVQQKQL DAAINHYIEA RCSIKAIEAA LGARQWKKAI 900
YILDLQDRNT ASKYYPRVAQ HYASLQEYEI AEELYTKGDR TKDAIDMYTQ AGRWEQAHKL 960
AMKCMRPEDV SVLYITQAQE MEKQGKYREA ERLYVTVEEP DLAITMFKKH KLYDDMIRLV 1020
GKHHPDLLSD THLHLGKELE AEGRLQEAEY HYLEAQEWKA TVNMYRSSGL WEEAYRVAKA 1080
HGGANAHKHV AYLWAKSLGG EAAVRLLNKL GLLEATIDHA ADNCSFEFAF ELSRLAFKHK 1140
APEIHLKYAM YLEDEGKFEE AEAEFIRAGK PKEAVLMFVH NQDWEAAQRV AEAHDPDSVA 1200
EVLVGQARGA LEEKDFQKAE GLLLRAQRPG LALNYYKEAG LWSDALRICK DYVPGQLEAL 1260
QEEYEREATK KGGRGVEGLV EQARQWEQAG EYSRAVDCYL KVRDSGSSGL MEKCWMKAAE 1320
LSIKFLPPQR SLEVVRVVGP QLIGIGKHSA AAELYLNLDL VKEAIDAFIE GEEWNKAKRV 1380
AKELDPRYED YVDQHYKEFL KNQGKVDSLV GVDVVAALDL YVEQGQWDKC IETATKQNYK 1440
ILHKYVALYA THLIREGGYA QALALYVQHG APANPQNFNI YKRIFTDMVS SPGTNNAEAY 1500
HSWADLRDVL FNLCENLVKS SEANSAAHEE FEMMLLISHY YATRSAAQSI KQLETVAARL 1560
SVSLLRHTQL LPADKAFYEA GTAAKEVGWE NMAFIFLNRF LDLTDAIEEG TLDALDHSDF 1620
QDTDIPFEVP LPAKQHVPEA QREEVRDWVL TVSMDQRLEQ VLPRDERGVY EASLVAASTG 1680
VRALPCLITG YPILRNKIEF KRPGKAANKD NWNKFLMAIK TSHSPVCQDV LKFISQWCGG 1740
LPSTSFSFQ 1749

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

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologIFT172483013E2RF25Canis lupus familiarisPredictionMore>>
1:1 orthologIFT172A0A452EH68Capra hircusPredictionMore>>
1:1 orthologIFT17226160Q9UG01Homo sapiensPredictionMore>>
1:1 orthologIft17267661Q6VH22CPOMus musculusPublicationMore>>
1:1 orthologIFT172459104K7B8Z3Pan troglodytesPredictionMore>>
1:1 orthologIFT172100348467G1SLK9Oryctolagus cuniculusPredictionMore>>
1:1 orthologift172432389Q5RHH4Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI
GO:0008134 transcription factor bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIISO
GO:0001841 neural tube formationIMP
GO:0001843 neural tube closureIMP
GO:0001947 heart loopingIMP
GO:0007219 Notch signaling pathwayIMP
GO:0007224 smoothened signaling pathwayIMP
GO:0007368 determination of left/right symmetryIMP
GO:0007420 brain developmentIMP
GO:0007507 heart developmentIMP
GO:0008544 epidermis developmentIMP
GO:0008589 regulation of smoothened signaling pathwayIMP
GO:0009953 dorsal/ventral pattern formationIMP
GO:0009953 dorsal/ventral pattern formationIGI
GO:0016485 protein processingIMP
GO:0021522 spinal cord motor neuron differentiationIMP
GO:0021915 neural tube developmentIMP
GO:0031122 cytoplasmic microtubule organizationIMP
GO:0042073 intraciliary transportIBA
GO:0045879 negative regulation of smoothened signaling pathwayIMP
GO:0045880 positive regulation of smoothened signaling pathwayIMP
GO:0048596 embryonic camera-type eye morphogenesisIMP
GO:0050680 negative regulation of epithelial cell proliferationIMP
GO:0060021 roof of mouth developmentIMP
GO:0060173 limb developmentIMP
GO:0060271 cilium assemblyISO
GO:0060271 cilium assemblyIMP
GO:0060348 bone developmentIMP
GO:0061525 hindgut developmentIMP
GO:0070986 left/right axis specificationIMP
GO:1905515 non-motile cilium assemblyIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005929 ciliumIDA
GO:0005929 ciliumTAS
GO:0005930 axonemeIBA
GO:0030992 intraciliary transport particle BIBA
GO:0030992 intraciliary transport particle BIDA
GO:0031514 motile ciliumISO
GO:0036064 ciliary basal bodyISO
GO:0036064 ciliary basal bodyIBA
GO:0097225 sperm midpieceIDA
GO:0097228 sperm principal pieceIDA
GO:0097598 sperm cytoplasmic dropletIDA

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-0007 Acetylation
KW-0025 Alternative splicing
KW-0966 Cell projection
KW-0969 Cilium
KW-0217 Developmental protein
KW-1017 Isopeptide bond
KW-0488 Methylation
KW-1185 Reference proteome
KW-0677 Repeat
KW-0802 TPR repeat
KW-0832 Ubl conjugation
KW-0853 WD repeat

Interpro

InterPro ID InterPro Term
IPR016024 ARM-type_fold
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
PF00400 WD40

Protein-protein interaction