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Aliases for KLHL17 Gene

Aliases for KLHL17 Gene

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

External Ids for KLHL17 Gene

Previous GeneCards Identifiers for KLHL17 Gene

  • GC01P000936
  • GC01P000885
  • GC01P000166

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. GO annotations related to this gene include actin filament binding and POZ domain binding. An important paralog of this gene is KLHL5.

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

Regulatory Elements for KLHL17 Gene

Enhancers for KLHL17 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KLHL17 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KLHL17 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLHL17 Gene

Chromosome:
1
Start:
959,952 bp from pter
End:
965,720 bp from pter
Size:
5,769 bases
Orientation:
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:
    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHL17 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Q6TDP4

UniProtKB/Swiss-Prot:

KLH17_HUMAN :
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 6 Kelch repeats.
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 6 Kelch repeats.
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 IEA --
GO:0051015 actin filament binding IEA,IBA --
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

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Jensen Localization Image for KLHL17 Gene COMPARTMENTS Subcellular localization image for KLHL17 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 4
cytosol 3
plasma membrane 3

Gene Ontology (GO) - Cellular Components for KLHL17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014069 postsynaptic density IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
GO:0045211 postsynaptic 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

None

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:

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

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, MOPED, and MaxQB for KLHL17 Gene



SOURCE GeneReport for Unigene cluster for KLHL17 Gene Hs.109212

genes like me logo Genes that share expression patterns with KLHL17: view

Protein tissue co-expression partners for KLHL17 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia LOC100608762 35
  • 99.12 (n)
  • 99.84 (a)
KLHL17 36
  • 100 (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
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl17 35
  • 75.2 (n)
  • 91.53 (a)
Str.5011 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.2353 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
rs3813184 -- 963,620(-) GAAAC(A/G)GCCTC intron-variant, downstream-variant-500B
rs4970441 -- 961,945(-) GAGTG(A/C/G)GCATC nc-transcript-variant, reference, synonymous-codon
rs6605071 -- 962,943(+) CCCTC(C/T)TGCCC intron-variant
rs6696971 -- 962,358(+) AGGTT(C/T)TGGAA nc-transcript-variant, reference, synonymous-codon
rs7549631 -- 962,350(+) CCACT(C/T)CCAGG intron-variant, nc-transcript-variant, reference, missense

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

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)

Relevant External Links for KLHL17 Gene

Human Gene Mutation Database (HGMD)
KLHL17

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: DISEASES

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

Relevant External Links for KLHL17

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 S.G. … Bentley D.R. (Nature 2006) 3 4 67
  2. Actinfilin, a brain-specific actin-binding protein in postsynaptic density. (PMID: 12063253) Chen Y. … Li M. (J. Biol. Chem. 2002) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Update on the Kelch-like (KLHL) gene family. (PMID: 23676014) Dhanoa B.S. … Friedman J.S. (Hum. Genomics 2013) 3
  5. Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach. (PMID: 22664934) BAPhm D. … Grus F.H. (Oncol. Rep. 2012) 3

Products for KLHL17 Gene

Sources for KLHL17 Gene

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