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Basic Information Integrated Annotations

Tag Content
iUUCD ID IUUC-Hsa-046274
Ensembl Protein ID ENSP00000385096.3
UniProt Accession Q8N5Z5; B0QYA9; B0QYB0; O95517; KCD17_HUMAN
Genbank Protein ID CAQ07355.1; CAQ07356.1; EAW60139.1; AAH25403.1; AAH31038.1; BAB14007.1
Protein Name BTB/POZ domain-containing protein KCTD17
Genbank Nucleotide ID AL022314; AL022314; CH471095; BC025403; BC031038; AK022304
Gene Name KCTD17
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000100379.17 ENST00000402077.7 ENSP00000384391.3
ENSG00000100379.17 ENST00000403888.7 ENSP00000385096.3
ENSG00000100379.17 ENST00000421900.5 ENSP00000409116.1
ENSG00000100379.17 ENST00000456470.1 ENSP00000409638.1
ENSG00000100379.17 ENST00000431531.1 ENSP00000402434.1
ENSG00000100379.17 ENST00000610767.4 ENSP00000480699.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbcircBaseCircNetmiRTarBase
microRNATRANSFACRepTarSomamiR
miRcodeRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Variation
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlus
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
E3 adaptor/Cullin RING/BCR/BTB_Other: BTB 3.30e-10 41.8 31 99
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 adaptor/Cullin RING/BCR/BTB_Other: BTB

   S: 1    aDvilvvggeeffahkivLaas.SsvFyalf.lmele.esksklmveikdvqpevfrallkFlYtgklde 67
    ++v l+vgg++f +++ +L++ s++++l+ el ++++++ + i+ ++p++f +l+Fl++gkl +
   Q: 31 KWVRLNVGGTVFLTTRQTLCREqKSFLSRLCqGEELQsDRDETGAYLID-RDPTYFGPILNFLRHGKLVL 99
    59********************9********54567778999*******.*****************976 PP
   

Organism Homo sapiens
Functional Description
(View)

Functional Description



     Is a positive regulator of ciliogenesis, playing a crucial role in the initial steps of axoneme extension. It acts as a substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation (PubMed:25270598). May be involved in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243).
Is a positive regulator of ciliogenesis, playing a crucial role in the initial steps of axoneme extension. It acts as a substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation (PubMed:25270598). May be involved in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243).
Protein Sequence
(Fasta)
MQTPRPAMRM EAGEAAPPAG AGGRAAGGWG KWVRLNVGGT VFLTTRQTLC REQKSFLSRL 60
CQGEELQSDR DETGAYLIDR DPTYFGPILN FLRHGKLVLD KDMAEEGVLE EAEFYNIGPL 120
It may take some time, please wait.

Protein Fasta Sequence



>IUUC-Hsa-046274|E3,BTB_Other|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
GAGGATGCAG ACGCCGCGGC CGGCGATGAG GATGGAGGCC GGGGAGGCAG CGCCGCCGGC 60
GGGGGCGGGC GGCCGCGCCG CAGGCGGCTG GGGCAAGTGG GTGCGGCTCA ACGTGGGGGG 120
It may take some time, please wait.

Nucleotide Fasta Sequence



>IUUC-Hsa-046274|E3,BTB_Other|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0970--Cilium biogenesis/degradation
KW-0175--Coiled coil
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0225--Disease mutation
KW-1023--Dystonia
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0833--Ubl conjugation pathway

Interpro

IPR000210--BTB/POZ_dom
IPR011333--SKP1/BTB/POZ
IPR003131--T1-type_BTB

Pfam

PF02214--BTB_2

SMART

SM00225--BTB

Gene Ontology

GO:0031463--C:Cul3-RING ubiquitin ligase complex
GO:0005737--C:cytoplasm
GO:0005783--C:endoplasmic reticulum
GO:0097602--F:cullin family protein binding
GO:0042802--F:identical protein binding
GO:0032403--F:protein complex binding
GO:0030030--P:cell projection organization
GO:0032469--P:endoplasmic reticulum calcium ion homeostasis
GO:0045724--P:positive regulation of cilium assembly
GO:0043161--P:proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0051260--P:protein homooligomerization

KEGG hsa:79734
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-002288 Ailuropoda melanoleuca 97.79 2.00e-103 368.00
IUUC-Apl-003510 Anas platyrhynchos 93.37 5.00e-100 356.00
IUUC-Aca-005203 Anolis carolinensis 92.82 9.00e-99 352.00
IUUC-Ame-011568 Astyanax mexicanus 74.05 9.00e-78 283.00
IUUC-Bta-013073 Bos taurus 86.64 5.00e-133 467.00
IUUC-Cja-019224 Callithrix jacchus 90.68 5.00e-128 450.00
IUUC-Cpo-021651 Cavia porcellus 98.34 7.00e-106 375.00
IUUC-Csa-023796 Chlorocebus sabaeus 99.45 3.00e-106 377.00
IUUC-Dre-027381 Danio rerio 78.26 2.00e-78 285.00
IUUC-Dor-030977 Dipodomys ordii 84.67 9.00e-105 373.00
IUUC-Fca-035758 Felis catus 89.27 1.00e-98 352.00
IUUC-Fal-037346 Ficedula albicollis 93.99 9.00e-102 362.00
IUUC-Ggo-044722 Gorilla gorilla 96.56 2.00e-147 514.00
IUUC-Itr-048109 Ictidomys tridecemlineatus 96.15 2.00e-101 362.00
IUUC-Lch-050418 Latimeria chalumnae 79.56 7.00e-78 283.00
IUUC-Laf-054166 Loxodonta africana 94.79 2.00e-103 368.00
IUUC-Mcc-055528 Macaca mulatta 99.07 5.00e-145 506.00
IUUC-Meu-056576 Macropus eugenii 71.33 2.00e-107 382.00
IUUC-Mmr-061106 Microcebus murinus 78.79 8.00e-127 446.00
IUUC-Mdo-062042 Monodelphis domestica 75.17 1.00e-109 389.00
IUUC-Mmu-063745 Mus musculus 95.77 2.00e-107 382.00
IUUC-Mpu-066798 Mustela putorius furo 84.98 2.00e-114 405.00
IUUC-Nle-069056 Nomascus leucogenys 99.66 1.00e-141 495.00
IUUC-Ont-071858 Oreochromis niloticus 79.12 1.00e-77 283.00
IUUC-Oga-087966 Otolemur garnettii 92.41 4.00e-132 464.00
IUUC-Oar-089758 Ovis aries 86.81 4.00e-131 460.00
IUUC-Ptr-091330 Pan troglodytes 92.21 1.00e-130 459.00
IUUC-Pan-092327 Papio anubis 91.75 1.00e-147 515.00
IUUC-Psi-093235 Pelodiscus sinensis 92.27 4.00e-99 353.00
IUUC-Pab-098084 Pongo abelii 99.66 1.00e-141 495.00
IUUC-Pca-100798 Procavia capensis 72.59 9.00e-100 356.00
IUUC-Rno-105754 Rattus norvegicus 97.18 2.00e-110 391.00
IUUC-Ssc-115240 Sus scrofa 98.36 2.00e-107 381.00
IUUC-Tgu-117209 Taeniopygia guttata 93.99 6.00e-102 362.00
IUUC-Tru-118035 Takifugu rubripes 79.67 1.00e-78 285.00
IUUC-Ttr-128632 Tursiops truncatus 79.38 1.00e-106 379.00
Created Date 25-Jun-2017

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