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Aliases for KLHL17 Gene

Aliases for KLHL17 Gene

  • Kelch-Like Family Member 17 2 3
  • Actinfilin 2 3 4
  • Kelch-Like 17 (Drosophila) 2
  • Kelch-Like Protein 17 3
  • Kelch-Like 17 3

External Ids for KLHL17 Gene

Summaries for KLHL17 Gene

Entrez Gene Summary for KLHL17 Gene

  • The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, 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]

GeneCards Summary for KLHL17 Gene

KLHL17 (Kelch-Like Family Member 17) is a Protein Coding gene. GO annotations related to this gene include actin filament binding and POZ domain binding. An important paralog of this gene is KLHL10.

UniProtKB/Swiss-Prot for KLHL17 Gene

  • Substrate-recognition component of some cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(KLHL17) mediates the ubiquitination and subsequenct degradation of GLUR6. May play a role in the actin-based neuronal function (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL17 Gene

Genomics for KLHL17 Gene

Genomic Location for KLHL17 Gene

Start:
960,587 bp from pter
End:
965,719 bp from pter
Size:
5,133 bases
Orientation:
Plus strand

Genomic View for KLHL17 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KLHL17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL17 Gene

Regulatory Elements for KLHL17 Gene

Proteins for KLHL17 Gene

  • Protein details for KLHL17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6TDP4-KLH17_HUMAN
    Recommended name:
    Kelch-like protein 17
    Protein Accession:
    Q6TDP4
    Secondary Accessions:
    • Q5SV94

    Protein attributes for KLHL17 Gene

    Size:
    642 amino acids
    Molecular mass:
    69874 Da
    Quaternary structure:
    • Interacts with F-actin; the interaction disruptes the F-actin structures and leads to marked changes of neuronal morphology. Component of a complex, composed of PDZK1, SYNGAP1, KLHL17 and NMDA receptors. Interacts directly with 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 targets GRIK2 for degradation via ubiquitin-proteasome pathway. Interacts with GRIK1. Interacts with (via BTB domain) CUL3; the interaction regulates surface GRIK2 expression (By similarity).

neXtProt entry for KLHL17 Gene

Proteomics data for KLHL17 Gene at MOPED

Post-translational modifications for KLHL17 Gene

No Post-translational modifications

Other Protein References for KLHL17 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHL17 Gene

Domains for KLHL17 Gene

Gene Families for KLHL17 Gene

HGNC:
  • BTBD :BTB/POZ domain containing
  • KLHL :Kelch-like

Suggested Antigen Peptide Sequences for KLHL17 Gene

Graphical View of Domain Structure for InterPro Entry

Q6TDP4

UniProtKB/Swiss-Prot:

KLH17_HUMAN
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.:
    • Q6TDP4
  • Contains 1 BTB (POZ) domain.:
    • Q6TDP4
Similarity:
  • Contains 6 Kelch repeats.:
    • Q6TDP4
genes like me logo Genes that share domains with KLHL17: view

Function for KLHL17 Gene

Molecular function for KLHL17 Gene

UniProtKB/Swiss-Prot Function: Substrate-recognition component of some cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(KLHL17) mediates the ubiquitination and subsequenct degradation of GLUR6. May play a role in the actin-based neuronal function (By similarity).

Gene Ontology (GO) - Molecular Function for KLHL17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0031208 POZ domain binding IEA --
GO:0032947 protein complex scaffold ISS --
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with KLHL17: view

miRNA for KLHL17 Gene

miRTarBase miRNAs that target KLHL17

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for KLHL17 Gene

Localization for KLHL17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL17 Gene

Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse. Note=Postsynaptic density. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLHL17 Gene COMPARTMENTS Subcellular localization image for KLHL17 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 3
plasma membrane 3

Gene Ontology (GO) - Cellular Components for KLHL17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0014069 postsynaptic density IEA --
GO:0015629 actin cytoskeleton ISS --
GO:0030054 cell junction IEA --
GO:0032839 dendrite cytoplasm IEA --
genes like me logo Genes that share ontologies with KLHL17: view

Pathways for KLHL17 Gene

SuperPathways for KLHL17 Gene

No Data Available

UniProtKB/Swiss-Prot Q6TDP4-KLH17_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for KLHL17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007420 brain development IEA --
GO:0016567 protein ubiquitination IEA --
GO:0030036 actin cytoskeleton organization ISS --
genes like me logo Genes that share ontologies with KLHL17: view

No data available for Pathways by source for KLHL17 Gene

Transcripts for KLHL17 Gene

Unigene Clusters for KLHL17 Gene

Kelch-like family member 17:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL17 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b
SP1: - - - -
SP2: - -
SP3:
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for KLHL17 Gene

GeneLoc Exon Structure for
KLHL17
ECgene alternative splicing isoforms for
KLHL17

Expression for KLHL17 Gene

mRNA expression in normal human tissues for KLHL17 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KLHL17 Gene

SOURCE GeneReport for Unigene cluster for KLHL17 Gene Hs.109212

genes like me logo Genes that share expressions with KLHL17: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KLHL17 Gene

Orthologs for KLHL17 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHL17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL17 36
  • 100 (a)
OneToOne
LOC100608762 35
  • 99.12 (n)
  • 99.84 (a)
cow
(Bos Taurus)
Mammalia KLHL17 35
  • 89.36 (n)
  • 97.66 (a)
KLHL17 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL17 35
  • 88.58 (n)
  • 97.04 (a)
KLHL17 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl17 35
  • 86.46 (n)
  • 97.34 (a)
Klhl17 16
Klhl17 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl17 35
  • 86.51 (n)
  • 97.34 (a)
chicken
(Gallus gallus)
Aves KLHL17 35
  • 82.43 (n)
  • 91.53 (a)
KLHL17 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL17 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2353 35
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl17 35
  • 75.2 (n)
  • 91.53 (a)
Str.5011 35
zebrafish
(Danio rerio)
Actinopterygii klhl17 35
  • 78.25 (n)
  • 90 (a)
klhl17 36
  • 90 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009641 35
  • 62.02 (n)
  • 56.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15097 35
  • 59.39 (n)
  • 56.17 (a)
CG15097 36
  • 53 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea kel-1 36
  • 34 (a)
OneToOne
Species with no ortholog for KLHL17:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KLHL17 Gene

ENSEMBL:
Gene Tree for KLHL17 (if available)
TreeFam:
Gene Tree for KLHL17 (if available)

Paralogs for KLHL17 Gene

genes like me logo Genes that share paralogs with KLHL17: view

Variants for KLHL17 Gene

Sequence variations from dbSNP and Humsavar for KLHL17 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs3813184 -- 963,620(-) GAAAC(A/G)GCCTC intron-variant, downstream-variant-500B
rs4970441 -- 961,945(-) GAGTG(C/G)GCATC synonymous-codon, reference, nc-transcript-variant
rs6605071 -- 962,943(+) CCCTC(C/T)TGCCC intron-variant
rs6696971 -- 962,358(+) AGGTT(C/T)TGGAA reference, synonymous-codon, nc-transcript-variant
rs7525697 -- 963,197(+) TCCAC(A/G)CGCCG synonymous-codon, reference, missense, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL17 Gene

Variant ID Type Subtype PubMed ID
dgv3e1 CNV Complex 17122850
essv4734 CNV CNV 17122850
nsv10161 CNV Gain+Loss 18304495
essv2408 CNV CNV 17122850
nsv517709 CNV Gain+Loss 19592680
nsv832980 CNV Gain 17160897
nsv428334 CNV Gain 18775914
dgv2n67 CNV Gain 20364138
nsv509035 CNV Insertion 20534489
nsv871883 CNV Gain+Loss 21882294
dgv9n71 CNV Loss 21882294
nsv871547 CNV Loss 21882294
dgv10n71 CNV Loss 21882294
nsv870660 CNV Loss 21882294
dgv11n71 CNV Loss 21882294
nsv482036 CNV Gain 20164927
esv2725028 CNV Deletion 23290073
esv2726139 CNV Deletion 23290073
esv1003697 CNV Deletion 20482838
esv2727250 CNV Deletion 23290073
nsv159315 CNV Loss 16902084

Relevant External Links for KLHL17 Gene

HapMap Linkage Disequilibrium report
KLHL17
Human Gene Mutation Database (HGMD)
KLHL17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL17 Gene

Disorders for KLHL17 Gene

No disorders were found for KLHL17 Gene.

No data available for UniProtKB/Swiss-Prot for KLHL17 Gene

Publications for KLHL17 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  2. Actinfilin, a brain-specific actin-binding protein in postsynaptic density. (PMID: 12063253) Chen Y. … Li M. (J. Biol. Chem. 2002) 2 3
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  4. Interactions between CAP70 and actinfilin are important for integrity of actin cytoskeleton structures in neurons. (PMID: 16054660) Chen Y. … Li M. (Neuropharmacology 2005) 23
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3

Products for KLHL17 Gene

Sources for KLHL17 Gene

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