KLHL17 Gene
protein-coding GIFtS: 47
GCID: GC01P000885
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|
kelch-like family member 17(Previous name: kelch-like 17 (Drosophila) )
| |
Aliases
for KLHL17 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Kelch-Like Family Member 171 2 | | Kelch-Like 172 | | Kelch-Like 17 (Drosophila)1 | | Kelch-Like Protein 172 | | RP11-54O7.62 | | Actinfilin3 | | Actinfilin3 | | |
Export aliases for KLHL17 gene to outside databasesPrevious GC identifers: GC01P000936 GC01P000166 |
Summaries
for KLHL17 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for KLHL17:
The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTBdomain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin.This protein may play a key role in the regulation of actin-based neuronal function. (provided by RefSeq, Aug 2010)
UniProtKB/Swiss-Prot: KLH17_HUMAN, Q6TDP4Function: Substrate-recognition component of some cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligasecomplex. The BCR(KLHL17) mediates the ubiquitination and subsequenct degradation of GLUR6. May play a role in theactin-based neuronal function (By similarity)
|
Genomic Views
for KLHL17 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004350.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KLHL17 gene promoter:
CREB Max Max1 deltaCREB XBP-1 YY1 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for KLHL17
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL17 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p36.33 Ensembl cytogenetic band: 1p36.33 HGNC cytogenetic band: 1p36KLHL17 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P000885: view genomic region
(about GC identifiers)
Start:
|
895,967 bp from pter |
End:
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901,095 bp from pter |
Size:
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5,129 bases |
Orientation:
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plus strand |
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Proteins
for KLHL17 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: KLH17_HUMAN, Q6TDP4 (See
protein sequence)Recommended Name: Kelch-like protein 17 Size: 642 amino acids; 69874 Da
Subunit: Interacts with F-actin; the interaction disruptes the F-actin structures and leads to marked changes ofneuronal morphology. Component of a complex, composed of PDZK1, SYNGAP1, KLHL17 and NMDA receptors. Interacts directlywith PDZK1 (via PDZ1 domain); the interaction is important for integrity of actin cytoskeleton structures in neurons.Interacts with DLG4 and SYNGAP1. Interacts (via kelch repeats) with GRIK2 (via C-terminus); the interaction targetsGRIK2 for degradation via ubiquitin-proteasome pathway. Interacts with GRIK1. Interacts with (via BTB domain) CUL3;the interaction regulates surface GRIK2 expression (By similarity)
Subcellular location: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Celljunction, synapse (By similarity). Note=Postsynaptic density (By similarity)
Secondary accessions: Q5SV94Explore the universe of human proteins at neXtProt for KLHL17: NX_Q6TDP4
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6TDP4
KLHL17 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_938073.1
ENSEMBL proteins: ENSP00000343930 ENSP00000389373 ENSP00000463694
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
KLHL17 for ontologies About GeneDecksing
KLHL17 Antibody Products:
Assay Products for KLHL17: |
Protein
Domains /
Families
for KLHL17 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KLHL17 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q6TDP4ProtoNet protein and cluster: Q6TDP4 2 Blocks protein families: IPB000210 BTB/POZ domain IPB011705 BTB/Kelch-associated
UniProtKB/Swiss-Prot: KLH17_HUMAN, Q6TDP4Similarity: Contains 1 BACK (BTB/Kelch associated) domainSimilarity: Contains 1 BTB (POZ) domainSimilarity: Contains 6 Kelch repeats |
Function
for KLHL17 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: KLH17_HUMAN, Q6TDP4Function: Substrate-recognition component of some cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligasecomplex. The BCR(KLHL17) mediates the ubiquitination and subsequenct degradation of GLUR6. May play a role in theactin-based neuronal function (By similarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KLHL17 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KLHL17
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for KLHL17 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHL17 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL17 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
KLHL17 for ontologies About GeneDecksing
|
Pathways & Interactions
for KLHL17 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
UniProtKB/Swiss-Prot: KLH17_HUMAN, Q6TDP4Pathway: Protein modification; protein ubiquitinationInteractions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLHL17
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
5 Interacting proteins for KLHL17 (Q6TDP43 ENSP000003439304) via UniProtKB, MINT, STRING, and/or I2D About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007420 | brain development |
IEA | -- | | GO:0016567 | protein ubiquitination |
IEA | -- | | GO:0030036 | actin cytoskeleton organization |
ISS | -- |
KLHL17 for ontologies About GeneDecksing
|
Drugs & Compounds
for KLHL17 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for KLHL17
Search CenterWatch for drugs/clinical trials and news about KLHL17 / KLH17
|
Transcripts
for KLHL17 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for KLHL17 gene: NM_198317.2 Unigene Cluster for KLHL17: Kelch-like 17 (Drosophila) Hs.109212 [show with all ESTs]Unigene Representative Sequence: NM_1983175 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000338591(uc001aca.2) ENST00000455747(uc010nyb.1 uc001acc.2)
ENST00000463212(uc001acb.1 uc010nya.1) ENST00000466300 ENST00000481067
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KLHL17 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KLHL17
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KLHL17 (NM_198317) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KLHL17 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHL17 |
Additional cDNA sequence: AK127585.1 AK293258.1 AY423763.1 BC033192.1 BC045768.1 BC105742.1 7 DOTS entries: DT.100706932 DT.95256710 DT.101981933 DT.100748864 DT.97825011 DT.100741610 DT.99954446 24/63 AceView cDNA sequences (see all 63): BM773087 AY423763 NM_198317 BX108296 CA489312 BX402912 BM765088 BC045768 CA314565 AK127585 AL536811 BQ002785 BM742493 BM932272 BM806379 BM847622 AA308909 BM741506 AL555656 AI150576 BM728025 BM849888 BC033192 AA774437
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for KLHL17 (see all 7) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b |
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| SP1: | | | | | | | | | | | - | | - | | | | | | | | | | - | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | - | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for KLHL17
|
Expression
for KLHL17 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| KLHL17 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCGGGGTCCC
About this image
See KLHL17 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KLHL17
SOURCE GeneReport for Unigene cluster: Hs.109212
SABiosciences Custom PCR Arrays for KLHL17
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KLHL17
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KLHL17 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLHL17 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLHL17 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL17 |
Orthologs
for KLHL17 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for KLHL17 gene from 6/23 species (see all 23) About this table
ENSEMBL Gene Tree for KLHL17 (if available)
TreeFam Gene Tree for KLHL17 (if available) |
Paralogs
for KLHL17 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KLHL17 gene
- KLHL182 KLHL202 KLHL52 KLHL122 KEAP12 KLHL282 KLHL42 KLHL32
- IPP2 KLHL82 KLHL102 KLHL12 KLHL22
18/36 SIMAP similar genes for KLHL17 using alignment to 4 protein entries: KLH17_HUMAN (see all proteins)
(see all similar genes):KLHL20 BACH2 KLHL3 KLHL2 KLHL1 KLHL5
KBTBD8 DKFZp686P15123 KBTBD7 KLHL4 KLHL28 KLHL18
DKFZp761P1717 KLHL32 KLHL8 KLHL12 DKFZp686H07112 KLHL21
KLHL17 for paralogs About GeneDecksing
|
Genomic Variants
for KLHL17 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KLHL17 (895967 - 901095 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for KLHL17
3 CNVs: 2294 30362 3274 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for KLHL17 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
KLHL17 for disorders About GeneDecksing
1  disease for KLHL17: About MalaCardsneuronitis
Export disorders for KLHL17 gene to outside databases
|
Publications
for KLHL17 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for KLHL17 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KLHL17) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- Actinfilin, a brain-specific actin-binding protein in postsynaptic density. (PubMed id 12063253)1, 3 Chen Y....Li M. (2002)
- Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
- Interactions between CAP70 and actinfilin are importa nt for integrity of actin cytoskeleton structures in neurons. (PubMed id 16054660)9 Chen Y. and Li M. (2005)
|
External Searches for KLHL17 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KLHL17 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KLHL17 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KLHL17 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for KLHL17 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KLHL17 gene:
Search GeneIP for patents involving KLHL17
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KLHL17 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KLHL17 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KLHL17 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL17 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KLHL17 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLHL17 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLHL17 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL17 |
|  |  |  | | | | ThermoFisher Antibodies for KLHL17 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHL17 |
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