Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KLHL17 Gene

Aliases for KLHL17 Gene

  • Kelch Like Family Member 17 2 3 5
  • Actinfilin 2 3 4
  • Kelch-Like 17 (Drosophila) 2
  • Kelch-Like Protein 17 3
  • Kelch-Like 17 3

External Ids for KLHL17 Gene

Previous GeneCards Identifiers for KLHL17 Gene

  • GC01P000936
  • GC01P000885
  • GC01P000166
  • GC01P000960

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. Diseases associated with KLHL17 include Chromosome 1P36 Deletion Syndrome. Gene Ontology (GO) annotations related to this gene include actin filament binding and POZ domain binding. An important paralog of this gene is KLHL20.

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).

Additional gene information for KLHL17 Gene

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

Genomics for KLHL17 Gene

GeneHancer (GH) Regulatory Elements for KLHL17 Gene

Promoters and enhancers for KLHL17 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I000957 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 565.7 -0.2 -207 4.1 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B E2F8 NOC2L KLHL17 UBE2J2 C1orf159 ATAD3B ENSG00000230092 ENSG00000237094 WASH7P CDK11A LOC100288069
GH01I001269 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10.6 +312.5 312540 5.5 PKNOX1 CLOCK ARID4B SIN3A ZNF2 ZBTB7B YY1 SLC30A9 POLR2B ZNF207 UBE2J2 LINC01786 ENSG00000230092 CDK11A ENSG00000237094 INTS11 LOC100288069 LOC100288379 ATAD3B CDK11B
GH01I000998 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 +40.5 40537 3.8 CLOCK MLX FEZF1 DMAP1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ISG15 HES4 ATAD3B ENSG00000230092 WASH7P INTS11 ENSG00000272512 LINC01786 CCNL2 ENSG00000272455
GH01I001405 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.6 +447.1 447098 3.6 HDGF PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 MRPL20 GC01P001407 RN7SL657P ATAD3B LOC100288379 INTS11 CCNL2 ENSG00000230092 CDK11A ANKRD65
GH01I001373 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.4 +415.2 415171 3.9 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 AURKAIP1 GC01M001374 CDK11A ENSG00000230092 ATAD3B LOC100288379 ENSG00000237094 LINC01786 LOC100288069 CCNL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KLHL17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHL17 gene promoter:

Genomic Locations for KLHL17 Gene

Genomic Locations for KLHL17 Gene
5,769 bases
Plus strand

Genomic View for KLHL17 Gene

Genes around KLHL17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL17 Gene

Proteins for KLHL17 Gene

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

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

    Protein attributes for KLHL17 Gene

    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

Post-translational modifications for KLHL17 Gene

No Post-translational modifications

Other Protein References for KLHL17 Gene

No data available for DME Specific Peptides for KLHL17 Gene

Domains & Families for KLHL17 Gene

Gene Families for KLHL17 Gene

Suggested Antigen Peptide Sequences for KLHL17 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

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:0004842 contributes_to ubiquitin-protein transferase activity IBA --
GO:0031208 POZ domain binding IEA --
GO:0032947 protein complex scaffold activity ISS,IEA --
GO:0051015 actin filament binding IBA,IEA --
genes like me logo Genes that share ontologies with KLHL17: view
genes like me logo Genes that share phenotypes with KLHL17: view

Animal Model Products

miRNA for KLHL17 Gene

miRTarBase miRNAs that target KLHL17

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLHL17 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 4
plasma membrane 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLHL17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA,IDA 22664934
GO:0005886 plasma membrane IEA --
GO:0014069 postsynaptic density IEA --
GO:0015629 actin cytoskeleton IEA,ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KLHL17: view

Pathways & Interactions 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,IBA --
GO:0016567 protein ubiquitination IEA --
GO:0030036 actin cytoskeleton organization ISS,IEA --
genes like me logo Genes that share ontologies with KLHL17: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL17 Gene

Drugs & Compounds for KLHL17 Gene

No Compound Related Data Available

Transcripts for KLHL17 Gene

Unigene Clusters for KLHL17 Gene

Kelch-like family member 17:
Representative Sequences:

Clone Products

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: - -
SP4: -
SP5: -

Relevant External Links for KLHL17 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KLHL17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHL17 Gene

Protein differential expression in normal tissues from HIPED for KLHL17 Gene

This gene is overexpressed in Heart (53.2) and Platelet (15.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLHL17 Gene

Protein tissue co-expression partners for KLHL17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLHL17 Gene:


SOURCE GeneReport for Unigene cluster for KLHL17 Gene:


Evidence on tissue expression from TISSUES for KLHL17 Gene

  • Blood(3.3)
  • Eye(2.6)
genes like me logo Genes that share expression patterns with KLHL17: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia KLHL17 34
  • 100 (a)
LOC100608762 33
  • 99.12 (n)
(Bos Taurus)
Mammalia KLHL17 33 34
  • 89.36 (n)
(Canis familiaris)
Mammalia KLHL17 33 34
  • 88.58 (n)
(Rattus norvegicus)
Mammalia Klhl17 33
  • 86.51 (n)
(Mus musculus)
Mammalia Klhl17 33 16 34
  • 86.46 (n)
(Gallus gallus)
Aves KLHL17 33 34
  • 82.43 (n)
(Anolis carolinensis)
Reptilia KLHL17 34
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl17 33
  • 75.2 (n)
Str.5011 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.2353 33
(Danio rerio)
Actinopterygii klhl17 33 34
  • 78.25 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009641 33
  • 62.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15097 33 34
  • 59.39 (n)
(Caenorhabditis elegans)
Secernentea kel-1 34
  • 34 (a)
Species where no ortholog for KLHL17 was found in the sources mined by GeneCards:
  • 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

Gene Tree for KLHL17 (if available)
Gene Tree for KLHL17 (if available)

Paralogs for KLHL17 Gene

Variants for KLHL17 Gene

Sequence variations from dbSNP and Humsavar for KLHL17 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000008901 -- 958,723(+) A/G upstream_transcript_variant
rs1001732729 -- 958,155(+) G/A upstream_transcript_variant
rs1002240891 -- 960,751(+) C/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1002374994 -- 963,849(+) G/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1002517738 -- 965,403(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv2n67 CNV gain 20364138
dgv5n100 CNV gain 25217958
esv1003697 CNV deletion 20482838
esv2762302 CNV gain 21179565
nsv1013524 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1074944 CNV deletion 25765185
nsv1160644 CNV deletion 26073780
nsv159315 CNV deletion 16902084
nsv428334 CNV gain 18775914
nsv482036 CNV gain 20164927
nsv482937 CNV loss 15286789
nsv509035 CNV insertion 20534489
nsv517709 CNV gain+loss 19592680
nsv544895 CNV loss 21841781
nsv832980 CNV gain 17160897
nsv950451 CNV deletion 24416366

Variation tolerance for KLHL17 Gene

Residual Variation Intolerance Score: 4.84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.59; 30.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHL17 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for KLHL17 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLHL17 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KLHL17

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

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

Publications for KLHL17 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  2. Actinfilin, a brain-specific actin-binding protein in postsynaptic density. (PMID: 12063253) Chen Y … Li M (The Journal of biological chemistry 2002) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Update on the Kelch-like (KLHL) gene family. (PMID: 23676014) Dhanoa BS … Friedman JS (Human genomics 2013) 3 58

Products for KLHL17 Gene

Sources for KLHL17 Gene

Loading form....