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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-046135
Ensembl Protein ID ENSP00000296266.3
UniProt Accession Q9HBG6; B3KW53; B4DEY9; B4DPW7; E7EQF4; E9PDG2; E9PDX2; G3XAB1; H7C3C0; Q53G36; Q8TC06; Q9BTB9; Q9BTY4; Q9HAT9; Q9HBG5; Q9NV68; Q9UF80; IF122_HUMAN
Genbank Protein ID AAG15427.1; AAG15428.1; AAG13415.1; BAA91888.1; BAG57250.1; BAG60729.1; BAG54015.1; BAD96815.1; EAW79246.1; EAW79247.1; EAW79249.1; EAW79250.1; AAH28353.1; AAH03045.2; AAH04238.1
Protein Name Intraflagellar transport protein 122 homolog; WD repeat-containing protein 10; WD repeat-containing protein 140
Genbank Nucleotide ID AF244930; AF244931; AF302154; AK001759; AK293852; AK298526; AK124140; AK223095; AC080007; CH471052; CH471052; CH471052; BC028353; BC003045; BC004238
Gene Name IFT122; SPG; WDR10; WDR140
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000163913.11 ENST00000347300.6 ENSP00000323973.3
ENSG00000163913.11 ENST00000296266.7 ENSP00000296266.3
ENSG00000163913.11 ENST00000507564.5 ENSP00000425536.1
ENSG00000163913.11 ENST00000512220.5 ENSP00000421953.1
ENSG00000163913.11 ENST00000504021.5 ENSP00000422179.1
ENSG00000163913.11 ENST00000349441.6 ENSP00000324165.3
ENSG00000163913.11 ENST00000348417.6 ENSP00000324005.3
ENSG00000163913.11 ENST00000510524.5 ENSP00000423902.1
ENSG00000163913.11 ENST00000502456.5 ENSP00000427061.1
ENSG00000163913.11 ENST00000502304.5 ENSP00000427027.1
ENSG00000163913.11 ENST00000514275.5 ENSP00000423921.1
ENSG00000163913.11 ENST00000508826.5 ENSP00000421140.1
ENSG00000163913.11 ENST00000509195.5 ENSP00000425540.1
ENSG00000163913.11 ENST00000512157.5 ENSP00000424206.1
ENSG00000163913.11 ENST00000515783.5 ENSP00000423288.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
RepTarmiRNAMapSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDiRefIndexHINTMentha
InWeb_IM
Disease-associated Variation
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPHOSIDABioGRIDmUbiSiDa
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
E3 adaptor/Cullin RING/DCX/DWD 7.70e-12 46.6 51 80
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 adaptor/Cullin RING/DCX/DWD
   S: 1    gHtdsvtclaf.sd.tllvsGsdDgtikvW 28
           gH+d v+c+a+  d ++++sGs D+++ +W
   Q: 51   GHKDTVYCVAYaKDgKRFASGSADKSVIIW 80
           8***********777*************** PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity).
 Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity).
Protein Sequence
(Fasta)
MRAVLTWRDK AEHCINDIAF KPDGTQLILA AGSRLLVYDT SDGTLLQPLK GHKDTVYCVA 60
YAKDGKRFAS GSADKSVIIW TSKLEGILKY TSWSVMSSLH LHLPFLGLHK TVRVTATDKA 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046135|E3,WD_repeat|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
ATTCTCGAGG AAGACGCACC GCCCCCACAC GCCCCGACCA ATCGCTCGCG CTCTGGTTGC 60
GCTGGCGCCT TAGGGGCTCC AGTGCCACCA TTGCTTTTGC TGCTTTTCTG GCTTTCCCTT 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046135|E3,WD_repeat|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0025--Alternative splicing
KW-0966--Cell projection
KW-1186--Ciliopathy
KW-0969--Cilium
KW-0970--Cilium biogenesis/degradation
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0206--Cytoskeleton
KW-0217--Developmental protein
KW-0225--Disease mutation
KW-0038--Ectodermal dysplasia
KW-1185--Reference proteome
KW-0677--Repeat
KW-0853--WD repeat
Interpro

IPR011990--TPR-like_helical_dom
IPR015943--WD40/YVTN_repeat-like_dom
IPR001680--WD40_repeat
IPR017986--WD40_repeat_dom
PROSITE

PS50082--WD_REPEATS_2
PS50294--WD_REPEATS_REGION
Pfam

PF00400--WD40
SMART

SM00320--WD40
Gene Ontology

GO:0036064--C:ciliary basal body
GO:0097546--C:ciliary base
GO:0097542--C:ciliary tip
GO:0005929--C:cilium
GO:0005829--C:cytosol
GO:0030991--C:intraciliary transport particle A
GO:0016020--C:membrane
GO:0005654--C:nucleoplasm
GO:0032391--C:photoreceptor connecting cilium
GO:0048593--P:camera-type eye morphogenesis
GO:0060830--P:ciliary receptor clustering involved in smoothened signaling pathway
GO:0060271--P:cilium assembly
GO:0010172--P:embryonic body morphogenesis
GO:0042733--P:embryonic digit morphogenesis
GO:0035115--P:embryonic forelimb morphogenesis
GO:0035050--P:embryonic heart tube development
GO:0060971--P:embryonic heart tube left/right pattern formation
GO:0072594--P:establishment of protein localization to organelle
GO:0035720--P:intraciliary anterograde transport
GO:0035721--P:intraciliary retrograde transport
GO:0035735--P:intraciliary transport involved in cilium assembly
GO:0060173--P:limb development
GO:0050680--P:negative regulation of epithelial cell proliferation
GO:0045879--P:negative regulation of smoothened signaling pathway
GO:0021914--P:negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning
GO:0001843--P:neural tube closure
GO:1905515--P:non-motile cilium assembly
GO:0061512--P:protein localization to cilium
GO:0007227--P:signal transduction downstream of smoothened
GO:0060831--P:smoothened signaling pathway involved in dorsal/ventral neural tube patterning
KEGG hsa:55764
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001933 Ailuropoda melanoleuca 88.49 0.00e+00 2226.00
IUUC-Apl-003504 Anas platyrhynchos 85.41 0.00e+00 1754.00
IUUC-Aca-004767 Anolis carolinensis 79.63 0.00e+00 2060.00
IUUC-Ame-011642 Astyanax mexicanus 70.91 0.00e+00 1844.00
IUUC-Bta-012969 Bos taurus 86.46 0.00e+00 2166.00
IUUC-Cel-018670 Caenorhabditis elegans 36.55 0.00e+00 852.00
IUUC-Cja-019249 Callithrix jacchus 87.56 0.00e+00 2201.00
IUUC-Cfa-020915 Canis familiaris 89.10 0.00e+00 2199.00
IUUC-Cpo-021888 Cavia porcellus 88.10 0.00e+00 1803.00
IUUC-Cre-022789 Chlamydomonas reinhardtii 46.40 0.00e+00 1085.00
IUUC-Csa-023533 Chlorocebus sabaeus 94.43 0.00e+00 2388.00
IUUC-Cin-025121 Ciona intestinalis 54.81 0.00e+00 1456.00
IUUC-Csv-026240 Ciona savignyi 55.54 0.00e+00 1397.00
IUUC-Dno-029685 Dasypus novemcinctus 82.20 0.00e+00 2059.00
IUUC-Dme-032005 Drosophila melanogaster 26.74 5.00e-09 57.40
IUUC-Ete-032682 Echinops telfairi 82.56 0.00e+00 1634.00
IUUC-Eca-033831 Equus caballus 88.93 0.00e+00 2276.00
IUUC-Eeu-034919 Erinaceus europaeus 83.02 0.00e+00 976.00
IUUC-Fca-036559 Felis catus 88.54 0.00e+00 2261.00
IUUC-Fal-037340 Ficedula albicollis 83.27 0.00e+00 1686.00
IUUC-Gga-040595 Gallus gallus 84.99 0.00e+00 1746.00
IUUC-Ggo-045356 Gorilla gorilla 99.23 0.00e+00 2537.00
IUUC-Itr-048228 Ictidomys tridecemlineatus 82.75 0.00e+00 1991.00
IUUC-Lch-050183 Latimeria chalumnae 79.77 0.00e+00 1133.00
IUUC-Loc-052049 Lepisosteus oculatus 75.31 0.00e+00 1956.00
IUUC-Laf-053728 Loxodonta africana 87.79 0.00e+00 2251.00
IUUC-Mcc-054971 Macaca mulatta 97.45 0.00e+00 2481.00
IUUC-Meu-056446 Macropus eugenii 82.28 0.00e+00 2092.00
IUUC-Mga-059296 Meleagris gallopavo 79.54 0.00e+00 2054.00
IUUC-Mmr-061232 Microcebus murinus 89.01 0.00e+00 2237.00
IUUC-Mdo-062115 Monodelphis domestica 86.60 0.00e+00 2213.00
IUUC-Mmu-063664 Mus musculus 87.46 0.00e+00 2274.00
IUUC-Mpu-066136 Mustela putorius furo 84.92 0.00e+00 2148.00
IUUC-Mlu-068238 Myotis lucifugus 85.68 0.00e+00 2198.00
IUUC-Nle-069003 Nomascus leucogenys 91.73 0.00e+00 2303.00
IUUC-Ont-072080 Oreochromis niloticus 71.60 0.00e+00 1879.00
IUUC-Oan-072891 Ornithorhynchus anatinus 74.83 0.00e+00 878.00
IUUC-Ocu-074262 Oryctolagus cuniculus 85.92 0.00e+00 2168.00
IUUC-Ola-086538 Oryzias latipes 70.52 0.00e+00 1812.00
IUUC-Oga-088722 Otolemur garnettii 89.47 0.00e+00 2215.00
IUUC-Oar-089249 Ovis aries 77.73 0.00e+00 1911.00
IUUC-Ptr-090752 Pan troglodytes 98.07 0.00e+00 2497.00
IUUC-Pan-092472 Papio anubis 94.59 0.00e+00 2387.00
IUUC-Psi-093335 Pelodiscus sinensis 79.24 0.00e+00 2048.00
IUUC-Pma-094520 Petromyzon marinus 67.21 0.00e+00 1584.00
IUUC-Ppa-095600 Physcomitrella patens 44.24 5.00e-32 129.00
IUUC-Pfo-096526 Poecilia formosa 68.95 0.00e+00 1760.00
IUUC-Pab-098428 Pongo abelii 98.12 0.00e+00 1234.00
IUUC-Pca-100233 Procavia capensis 71.62 0.00e+00 974.00
IUUC-Pva-103064 Pteropus vampyrus 80.26 0.00e+00 1956.00
IUUC-Rno-105764 Rattus norvegicus 87.69 0.00e+00 2244.00
IUUC-Sha-106649 Sarcophilus harrisii 85.88 0.00e+00 2183.00
IUUC-Smo-109287 Selaginella moellendorffii 38.17 0.00e+00 854.00
IUUC-Tgu-116870 Taeniopygia guttata 78.26 0.00e+00 1965.00
IUUC-Tru-118661 Takifugu rubripes 69.26 0.00e+00 1776.00
IUUC-Tsy-119640 Tarsius syrichta 92.54 1.00e-109 392.00
IUUC-Tni-120812 Tetraodon nigroviridis 68.43 0.00e+00 1759.00
IUUC-Ttr-128862 Tursiops truncatus 88.06 0.00e+00 2262.00
IUUC-Vpa-130049 Vicugna pacos 85.89 1.00e-151 531.00
IUUC-Xtr-131914 Xenopus tropicalis 74.23 0.00e+00 1922.00
Created Date 25-Jun-2017

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