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Protein

Intraflagellar transport protein 122 homolog

Gene

Ift122

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia.2 Publications

GO - Biological processi

  • camera-type eye morphogenesis Source: UniProtKB
  • ciliary receptor clustering involved in smoothened signaling pathway Source: MGI
  • cilium assembly Source: GO_Central
  • cilium morphogenesis Source: UniProtKB
  • dorsal/ventral pattern formation Source: MGI
  • embryonic body morphogenesis Source: UniProtKB
  • embryonic digit morphogenesis Source: MGI
  • embryonic forelimb morphogenesis Source: BHF-UCL
  • embryonic heart tube development Source: UniProtKB
  • embryonic heart tube left/right pattern formation Source: BHF-UCL
  • establishment of protein localization to organelle Source: BHF-UCL
  • intraciliary anterograde transport Source: BHF-UCL
  • intraciliary retrograde transport Source: UniProtKB
  • intraciliary transport involved in cilium morphogenesis Source: CACAO
  • limb development Source: UniProtKB
  • negative regulation of epithelial cell proliferation Source: MGI
  • negative regulation of smoothened signaling pathway Source: UniProtKB
  • negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning Source: BHF-UCL
  • neural tube closure Source: UniProtKB
  • protein localization to cilium Source: CACAO
  • signal transduction downstream of smoothened Source: BHF-UCL
  • smoothened signaling pathway involved in dorsal/ventral neural tube patterning Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cilium 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 122 homolog
Alternative name(s):
WD repeat-containing protein 10
Gene namesi
Name:Ift122
Synonyms:Wdr10
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 6

Organism-specific databases

MGIiMGI:1932386. Ift122.

Subcellular locationi

GO - Cellular componenti

  • ciliary basal body Source: BHF-UCL
  • ciliary base Source: CACAO
  • cytoplasm Source: BHF-UCL
  • intraciliary transport particle A Source: UniProtKB
  • membrane Source: MGI
  • photoreceptor connecting cilium Source: UniProtKB
  • plasma membrane Source: GOC
  • primary cilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Disruption phenotypei

Embryonic lethal (manifesting between E11.5 and E13.5). Multiple developmental defects (exencephaly, situs viscerum inversus, delay in turning, hemorrhage and defects in limb development). In the node, primary cilia are absent or malformed in homozygous mutant and heterozygous embryos, respectively. The Shh signaling pathway is impaired in both neural tube patterning (expansion of motoneurons and rostro-caudal level-dependent contraction or expansion of the dorso-lateral interneurons) and limb patterning (ectrosyndactyly). The proteolytic processing of Gli3 is altered. Defects in Ift122 are the cause of the sister of open brain (sopb) phenotype, a mutant that induces embryonic lethality and generates primary cilia with features of defective retrograde intraflagellar transport.2 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11821182Intraflagellar transport protein 122 homologPRO_0000398816Add
BLAST

Proteomic databases

MaxQBiQ6NWV3.
PaxDbiQ6NWV3.
PRIDEiQ6NWV3.

PTM databases

iPTMnetiQ6NWV3.
PhosphoSiteiQ6NWV3.

Expressioni

Developmental stagei

Expression at least from E7.5 onwards throughout embryonic development with lower levels at E7.5 and E9.5. Ubiquitously expressed at E11.5.1 Publication

Gene expression databases

BgeeiENSMUSG00000030323.
ExpressionAtlasiQ6NWV3. baseline and differential.
GenevisibleiQ6NWV3. MM.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi219896. 1 interaction.
IntActiQ6NWV3. 1 interaction.
STRINGi10090.ENSMUSP00000045468.

Structurei

3D structure databases

ProteinModelPortaliQ6NWV3.
SMRiQ6NWV3. Positions 15-289, 478-510, 804-857.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati10 – 5041WD 1Add
BLAST
Repeati51 – 9141WD 2Add
BLAST
Repeati93 – 12937WD 3Add
BLAST
Repeati131 – 16939WD 4Add
BLAST
Repeati174 – 21744WD 5Add
BLAST
Repeati219 – 25840WD 6Add
BLAST
Repeati260 – 30041WD 7Add
BLAST
Repeati453 – 49240WD 8Add
BLAST

Sequence similaritiesi

Contains 8 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1538. Eukaryota.
COG2319. LUCA.
GeneTreeiENSGT00390000001016.
HOGENOMiHOG000261131.
HOVERGENiHBG069969.
InParanoidiQ6NWV3.
KOiK19656.
TreeFamiTF105855.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
2.130.10.10. 2 hits.
InterProiIPR011990. TPR-like_helical_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 3 hits.
[Graphical view]
SMARTiSM00320. WD40. 8 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 3 hits.
PROSITEiPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6NWV3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRAVLTWRDK AEQCIYDLAF KPDGTQLILA AGNRLLVYDT SDGTLLQPLK
60 70 80 90 100
GHKDTVYCVA YAKDGKRFAS GSADKSIIIW TSKLEGILKY THNDSIQCVS
110 120 130 140 150
YNPVTHQLAS CSSSDFGLWS PEQKSVSKHK SSSKITCCSW TNDGQYLALG
160 170 180 190 200
MANGIISIRN KNGEEKVKIE RPGGSLSPIW SICWNPSREE HNDILAVADW
210 220 230 240 250
GQKLSFYQLS GKQIGKDRPL NFDPCCISYF TKGEYILVGG SDKQVSLFTK
260 270 280 290 300
DGVRLGTVGE QNSWVWTCRV KPDSNYVVVG CQDGTISFYQ LIFSTVHGLY
310 320 330 340 350
KDRYAYRDSM TDVIVQHLIT EQKVRIKCRE LVKKIAIYKN RLAIQLPEKI
360 370 380 390 400
LIYELYSEDS TDMHYRVKEK IVKKFECNLL VVCADHIILC QEKRLQCLSF
410 420 430 440 450
SGVKEREWQM ESLIRYIKVI GGPAGREGLL VGLKNGQILK IFVDNLFAIV
460 470 480 490 500
LLKQATAVRC LDMSASRNKL AVVDENDTCL VYDIHTKELL FQEPNANSVA
510 520 530 540 550
WNTQCEDMLC FSGGGYLNIK ASTFPVHQQK LQGFVVGYNG SKIFCLHVFS
560 570 580 590 600
MSAVEVPQSA PMYQYLDRKM FKEAYQIACL GVTDADWREL AMEALEGLEF
610 620 630 640 650
ETARKAFTRV QDLRYLELIS SIEERKKRGE TNNDLFLADV FSYQGKFHEA
660 670 680 690 700
AKLYKRSGHE NLALDMYTDL CMFEYAKDFL GSGDPKETKM LITKQADWAR
710 720 730 740 750
NINEPKAAVE MYISAGEHAK AIEISGSHGW VDMLIDIARK LDKAEREPLL
760 770 780 790 800
MCACYFKKLD SPGYAAETYL KIGDLKSLVQ LYVDTKRWDE AFALGEKHPE
810 820 830 840 850
FKDDVYVPYA QWLAENDRFE EAQKAFHKAG RQGEAVRVLE QLTHNAVVES
860 870 880 890 900
RFNDAAYYYW MLSMQCLDMA QDPAQKDAML DKFHHFQHLA ELYHGYQTIH
910 920 930 940 950
RYTEEPFSFD LPETLFNISK FLLHSLTKAT PLGISKVNTL FTLAKQSKAL
960 970 980 990 1000
GAYKLARHAY DKLRGLQIPA RIQKSIELGT LTIRSKPFHD SEELVPLCYR
1010 1020 1030 1040 1050
CSTNNPLLNN LGNVCINCRQ PFIFSASSYE VLHLVEFYLE EGITDEEAVA
1060 1070 1080 1090 1100
LIDLEAPRHK REGKWRETSS NNSQTLKLDE TMDSIGEDDP FTAKLSFEQG
1110 1120 1130 1140 1150
SSEFVPVVVN RSVLRSMSRR DVLIKRWPPP LQWQYFRSLL PDASITMCPS
1160 1170 1180
CFQMFHSEDY ELLVLQHACC PYCRRRIDDT GP
Length:1,182
Mass (Da):134,798
Last modified:July 5, 2004 - v1
Checksum:iFB5046A4D92C9044
GO
Isoform 2 (identifier: Q6NWV3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     871-871: Q → QA

Show »
Length:1,183
Mass (Da):134,869
Checksum:i5EE95892F5F97AE8
GO

Sequence cautioni

The sequence BAD21365 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti19 – 191A → G in BAC31930 (PubMed:16141072).Curated
Sequence conflicti139 – 1391S → T in BAC27340 (PubMed:16141072).Curated
Sequence conflicti297 – 2971H → Q in BAC27340 (PubMed:16141072).Curated
Sequence conflicti663 – 6631A → V in BAD21365 (PubMed:15449545).Curated
Sequence conflicti768 – 7681T → A in BAC31930 (PubMed:16141072).Curated
Sequence conflicti776 – 7761K → R in BAC31930 (PubMed:16141072).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei871 – 8711Q → QA in isoform 2. 1 PublicationVSP_039810

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131115 mRNA. Translation: BAD21365.1. Different initiation.
AK031308 mRNA. Translation: BAC27340.1.
AK044456 mRNA. Translation: BAC31930.1.
AK167330 mRNA. Translation: BAE39432.1.
AK167412 mRNA. Translation: BAE39501.1.
BC066083 mRNA. Translation: AAH66083.1.
BC067415 mRNA. Translation: AAH67415.1.
CCDSiCCDS20445.1. [Q6NWV3-2]
CCDS51880.1. [Q6NWV3-1]
RefSeqiNP_001161235.1. NM_001167763.1. [Q6NWV3-1]
NP_112454.2. NM_031177.4. [Q6NWV3-2]
UniGeneiMm.333335.

Genome annotation databases

EnsembliENSMUST00000038234; ENSMUSP00000045468; ENSMUSG00000030323. [Q6NWV3-2]
ENSMUST00000112925; ENSMUSP00000108547; ENSMUSG00000030323. [Q6NWV3-1]
GeneIDi81896.
KEGGimmu:81896.
UCSCiuc009djg.2. mouse. [Q6NWV3-2]
uc009dji.2. mouse. [Q6NWV3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131115 mRNA. Translation: BAD21365.1. Different initiation.
AK031308 mRNA. Translation: BAC27340.1.
AK044456 mRNA. Translation: BAC31930.1.
AK167330 mRNA. Translation: BAE39432.1.
AK167412 mRNA. Translation: BAE39501.1.
BC066083 mRNA. Translation: AAH66083.1.
BC067415 mRNA. Translation: AAH67415.1.
CCDSiCCDS20445.1. [Q6NWV3-2]
CCDS51880.1. [Q6NWV3-1]
RefSeqiNP_001161235.1. NM_001167763.1. [Q6NWV3-1]
NP_112454.2. NM_031177.4. [Q6NWV3-2]
UniGeneiMm.333335.

3D structure databases

ProteinModelPortaliQ6NWV3.
SMRiQ6NWV3. Positions 15-289, 478-510, 804-857.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi219896. 1 interaction.
IntActiQ6NWV3. 1 interaction.
STRINGi10090.ENSMUSP00000045468.

PTM databases

iPTMnetiQ6NWV3.
PhosphoSiteiQ6NWV3.

Proteomic databases

MaxQBiQ6NWV3.
PaxDbiQ6NWV3.
PRIDEiQ6NWV3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000038234; ENSMUSP00000045468; ENSMUSG00000030323. [Q6NWV3-2]
ENSMUST00000112925; ENSMUSP00000108547; ENSMUSG00000030323. [Q6NWV3-1]
GeneIDi81896.
KEGGimmu:81896.
UCSCiuc009djg.2. mouse. [Q6NWV3-2]
uc009dji.2. mouse. [Q6NWV3-1]

Organism-specific databases

CTDi55764.
MGIiMGI:1932386. Ift122.

Phylogenomic databases

eggNOGiKOG1538. Eukaryota.
COG2319. LUCA.
GeneTreeiENSGT00390000001016.
HOGENOMiHOG000261131.
HOVERGENiHBG069969.
InParanoidiQ6NWV3.
KOiK19656.
TreeFamiTF105855.

Enzyme and pathway databases

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

Miscellaneous databases

PROiQ6NWV3.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000030323.
ExpressionAtlasiQ6NWV3. baseline and differential.
GenevisibleiQ6NWV3. MM.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
2.130.10.10. 2 hits.
InterProiIPR011990. TPR-like_helical_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 3 hits.
[Graphical view]
SMARTiSM00320. WD40. 8 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 3 hits.
PROSITEiPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIF122_MOUSE
AccessioniPrimary (citable) accession number: Q6NWV3
Secondary accession number(s): Q6KAU2, Q8C8U5, Q8CD77
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 5, 2010
Last sequence update: July 5, 2004
Last modified: September 7, 2016
This is version 120 of the entry and version 1 of the sequence. [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
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.