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Basic Information Integrated Annotations

Tag Content
iUUCD ID IUUC-Hsa-046333
Ensembl Protein ID ENSP00000352443.6
UniProt Accession Q9UG01; A5PKZ0; B2RNU5; Q86X44; Q96HW4; Q9UFJ9; Q9ULP1; IF172_HUMAN
Genbank Protein ID EAX00573.1; AAH08024.1; AAH47294.1; AAI37127.1; AAI42676.1; AAI42730.1; CAB53678.1; CAB55914.2; BAA86493.1
Protein Name Intraflagellar transport protein 172 homolog
Genbank Nucleotide ID AC074117; BC008024; BC047294; BC137126; BC142675; BC142729; AL110218; AL117421; AB033005
Gene Name IFT172; KIAA1179
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000138002.14 ENST00000260570.7 ENSP00000260570.3
ENSG00000138002.14 ENST00000509128.5 ENSP00000427255.1
ENSG00000138002.14 ENST00000450564.1 ENSP00000399017.1
ENSG00000138002.14 ENST00000443889.1 ENSP00000404082.1
ENSG00000138002.14 ENST00000359466.10 ENSP00000352443.6
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
TargetScanRepTarSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDiRefIndexHINTMentha
InWeb_IM
Disease-associated Variation
ClinVarGWASdbGWAS CentralOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
UniProtBioGRIDmUbiSiDa
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
E3 adaptor/Cullin RING/DCX/DWD 8.90e-08 33.8 69 94
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 adaptor/Cullin RING/DCX/DWD

   S: 6    vtclaf.sd.tllvsGsdDgtikvWD 29
    v ++af +d t ++ G D+ i+v+
   Q: 69 VKGMAFsPDsTKIAIGQTDNIIYVYK 94
    67899**999*************997 PP
   

Organism Homo sapiens
Functional Description
(View)

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 (By similarity).
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 (By similarity).
Protein Sequence
(Fasta)
MHLKHLRTLL SPQDGAAKVT CMAWSQNNAK FAVCTVDRVV LLYDEHGERR DKFSTKPADM 60
KYGRKSYMVK GMAFSPDSTK IAIGQTDNII YVYKIGEDWG DKKVICNKFI QTSAVTCLQW 120
It may take some time, please wait.

Protein Fasta Sequence



>IUUC-Hsa-046333|E3,WD_repeat|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
ACGTGTGACC TTGCGACGCG TGTTGCGCTC CGGTCGCATA AGCGTCAGTG CCTGTCGCTG 60
CGGCTGCGTG GCGGGTTGTC CAGGTAACCA CGGGAGTTGT CGCTGTCTAG GAGCATCTGA 120
It may take some time, please wait.

Nucleotide Fasta Sequence



>IUUC-Hsa-046333|E3,WD_repeat|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0007--Acetylation
KW-0025--Alternative splicing
KW-0966--Cell projection
KW-1186--Ciliopathy
KW-0969--Cilium
KW-0181--Complete proteome
KW-0217--Developmental protein
KW-0225--Disease mutation
KW-1017--Isopeptide bond
KW-0488--Methylation
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0682--Retinitis pigmentosa
KW-0802--TPR repeat
KW-0832--Ubl conjugation
KW-0853--WD repeat

Interpro

IPR016024--ARM-type_fold
IPR011990--TPR-like_helical_dom
IPR015943--WD40/YVTN_repeat-like_dom
IPR001680--WD40_repeat
IPR017986--WD40_repeat_dom

Pfam

PF00400--WD40

SMART

SM00320--WD40

Gene Ontology

GO:0005930--C:axoneme
GO:0036064--C:ciliary basal body
GO:0097542--C:ciliary tip
GO:0005929--C:cilium
GO:1903561--C:extracellular vesicle
GO:0030992--C:intraciliary transport particle B
GO:0097598--C:sperm cytoplasmic droplet
GO:0097225--C:sperm midpiece
GO:0097228--C:sperm principal piece
GO:0060348--P:bone development
GO:0007420--P:brain development
GO:0060271--P:cilium assembly
GO:0031122--P:cytoplasmic microtubule organization
GO:0009953--P:dorsal/ventral pattern formation
GO:0008544--P:epidermis development
GO:0001947--P:heart looping
GO:0061525--P:hindgut development
GO:0035735--P:intraciliary transport involved in cilium assembly
GO:0070986--P:left/right axis specification
GO:0060173--P:limb development
GO:0050680--P:negative regulation of epithelial cell proliferation
GO:0001843--P:neural tube closure
GO:1905515--P:non-motile cilium assembly
GO:0007219--P:Notch signaling pathway
GO:0060021--P:palate development
GO:0045880--P:positive regulation of smoothened signaling pathway
GO:0016485--P:protein processing
GO:0007224--P:smoothened signaling pathway
GO:0021522--P:spinal cord motor neuron differentiation

KEGG hsa:26160
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001775 Ailuropoda melanoleuca 95.68 0.00e+00 1035.00
IUUC-Apl-004180 Anas platyrhynchos 83.69 0.00e+00 918.00
IUUC-Bta-012784 Bos taurus 95.87 0.00e+00 1009.00
IUUC-Cfa-020359 Canis familiaris 95.28 0.00e+00 1031.00
IUUC-Cho-024397 Choloepus hoffmanni 81.93 0.00e+00 840.00
IUUC-Cin-025243 Ciona intestinalis 73.78 0.00e+00 775.00
IUUC-Csv-025964 Ciona savignyi 75.34 0.00e+00 838.00
IUUC-Dno-029782 Dasypus novemcinctus 96.07 0.00e+00 1034.00
IUUC-Eca-033288 Equus caballus 96.66 0.00e+00 1045.00
IUUC-Fca-036387 Felis catus 96.27 0.00e+00 1038.00
IUUC-Loc-052126 Lepisosteus oculatus 76.31 0.00e+00 827.00
IUUC-Laf-054242 Loxodonta africana 96.07 0.00e+00 1038.00
IUUC-Mcc-055460 Macaca mulatta 83.33 0.00e+00 840.00
IUUC-Meu-056864 Macropus eugenii 91.75 0.00e+00 988.00
IUUC-Mmr-060951 Microcebus murinus 94.30 0.00e+00 1010.00
IUUC-Mdo-062290 Monodelphis domestica 94.70 0.00e+00 1025.00
IUUC-Mlu-067149 Myotis lucifugus 94.70 0.00e+00 1019.00
IUUC-Nle-069497 Nomascus leucogenys 96.86 0.00e+00 1041.00
IUUC-Opr-070642 Ochotona princeps 95.28 0.00e+00 1021.00
IUUC-Ocu-074484 Oryctolagus cuniculus 96.46 0.00e+00 1045.00
IUUC-Ola-086935 Oryzias latipes 70.53 0.00e+00 758.00
IUUC-Ptr-090769 Pan troglodytes 99.41 0.00e+00 1066.00
IUUC-Psi-093021 Pelodiscus sinensis 88.45 0.00e+00 950.00
IUUC-Pva-102604 Pteropus vampyrus 95.28 0.00e+00 1024.00
IUUC-Rno-104875 Rattus norvegicus 90.40 0.00e+00 940.00
IUUC-Tgu-116577 Taeniopygia guttata 83.33 0.00e+00 936.00
IUUC-Tru-117611 Takifugu rubripes 75.15 0.00e+00 823.00
Created Date 25-Jun-2017

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