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

Aliases for KLHL20 Gene

Aliases for KLHL20 Gene

  • Kelch Like Family Member 20 2 3 5
  • Kelch-Like ECT2-Interacting Protein 3 4
  • Kelch-Like Protein X 3 4
  • KLEIP 3 4
  • KLHLX 3 4
  • Kelch Motif Containing Protein 3
  • Kelch-Like 20 (Drosophila) 2
  • Kelch-Like Protein 20 3
  • KHLHX 3

External Ids for KLHL20 Gene

Previous GeneCards Identifiers for KLHL20 Gene

  • GC01P170416
  • GC01P171950
  • GC01P144908

Summaries for KLHL20 Gene

Entrez Gene Summary for KLHL20 Gene

  • The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]

GeneCards Summary for KLHL20 Gene

KLHL20 (Kelch Like Family Member 20) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and E-cadherin signaling in the nascent adherens junction. Gene Ontology (GO) annotations related to this gene include actin binding and interferon-gamma binding. An important paralog of this gene is KLHL17.

UniProtKB/Swiss-Prot for KLHL20 Gene

  • Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis (PubMed:20389280). The BCR(KLHL20) E3 ubiquitin ligase complex also specifically mediates Lys-33-linked ubiquitination (PubMed:24768539). Involved in anterograde Golgi to endosome transport by mediating Lys-33-linked ubiquitination of CORO7, promoting interaction between CORO7 and EPS15, thereby facilitating actin polymerization and post-Golgi trafficking (PubMed:24768539). Also acts as a regulator of endothelial migration during angiogenesis by controlling the activation of Rho GTPases. The BCR(KLHL20) E3 ubiquitin ligase complex acts as a regulator of neurite outgrowth by mediating ubiquitination and degradation of PDZ-RhoGEF/ARHGEF11 (PubMed:21670212). In case of tumor, the BCR(KLHL20) E3 ubiquitin ligase complex is involved in tumor hypoxia: following hypoxia, the BCR(KLHL20)complex mediates ubiquitination and degradation of PML, potentiating HIF-1 signaling and cancer progression (PubMed:21840486).

Gene Wiki entry for KLHL20 Gene

Additional gene information for KLHL20 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL20 Gene

Genomics for KLHL20 Gene

GeneHancer (GH) Regulatory Elements for KLHL20 Gene

Promoters and enhancers for KLHL20 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J173714 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 676.9 +0.5 526 2.3 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC SSRP1 KLHL20 ANKRD45 RC3H1 DARS2 GAS5 GAS5-AS1 RPS27P7
GH01J173637 Promoter 0.8 EPDnew 659.9 -77.2 -77218 0.1 ZNF280A POLR2A SCRT2 TRIM28 SETDB1 KLHL20 LOC105371619 SLC9C2 ANKRD45
GH01J173473 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 34.6 -238.1 -238091 7.1 CLOCK DMAP1 YY1 E2F8 SP3 NFYC MEF2D ZNF610 ZNF585B GLIS1 PRDX6 LOC100506023 TNFSF4 KLHL20 GAS5 GAS5-AS1 CENPL DARS2 LOC101928673
GH01J173861 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 35 +151.8 151848 10.3 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZBTB37 CENPL GC01M174038 GC01M174039 GC01M174041 GC01M174042 GC01M174043 GC01M174045 GC01M174046 GC01M174047
GH01J172902 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.5 -808.2 -808220 9 CHAMP1 ZNF766 FOS RUNX3 CAVIN1 ZBTB11 CEBPB ZNF592 ZNF148 MEF2D ENSG00000224000 KLHL20 TNFSF18 DNM3OS GAS5-AS1 ENSG00000224228 GAS5 AIMP1P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLHL20 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHL20 gene promoter:
  • AREB6
  • CUTL1
  • FOXO4
  • GATA-1
  • c-Ets-1
  • NF-1
  • Elk-1
  • FOXO3
  • FOXO3a

Genomic Locations for KLHL20 Gene

Genomic Locations for KLHL20 Gene
chr1:173,714,912-173,786,822
(GRCh38/hg38)
Size:
71,911 bases
Orientation:
Plus strand
chr1:173,684,080-173,755,840
(GRCh37/hg19)
Size:
71,761 bases
Orientation:
Plus strand

Genomic View for KLHL20 Gene

Genes around KLHL20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL20 Gene

Proteins for KLHL20 Gene

  • Protein details for KLHL20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2M5-KLH20_HUMAN
    Recommended name:
    Kelch-like protein 20
    Protein Accession:
    Q9Y2M5
    Secondary Accessions:
    • B3KMA0
    • B4DUR0
    • Q5TZF2
    • Q5ZF45
    • Q9H457

    Protein attributes for KLHL20 Gene

    Size:
    609 amino acids
    Molecular mass:
    67955 Da
    Quaternary structure:
    • Component of the BCR(KLHL20) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL20 and RBX1. Interacts with PDZ-RhoGEF/ARHGEF11, DAPK1, PML and CORO7. Interacts with F-actin. Interacts with IFN-gamma (IFNG). Interacts (via kelch repeats) with IVNS1ABP (via kelch repeats); this interaction blocks the assembly of CUL3-KLHL20 complex (PubMed:25619834).

    Alternative splice isoforms for KLHL20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL20 Gene

Post-translational modifications for KLHL20 Gene

  • Ubiquitination at isoforms=2265
  • Modification sites at PhosphoSitePlus

Other Protein References for KLHL20 Gene

Antibody Products

  • Abcam antibodies for KLHL20
  • Boster Bio Antibodies for KLHL20
  • Santa Cruz Biotechnology (SCBT) Antibodies for KLHL20

No data available for DME Specific Peptides for KLHL20 Gene

Domains & Families for KLHL20 Gene

Gene Families for KLHL20 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHL20: view

No data available for UniProtKB/Swiss-Prot for KLHL20 Gene

Function for KLHL20 Gene

Molecular function for KLHL20 Gene

UniProtKB/Swiss-Prot Function:
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis (PubMed:20389280). The BCR(KLHL20) E3 ubiquitin ligase complex also specifically mediates Lys-33-linked ubiquitination (PubMed:24768539). Involved in anterograde Golgi to endosome transport by mediating Lys-33-linked ubiquitination of CORO7, promoting interaction between CORO7 and EPS15, thereby facilitating actin polymerization and post-Golgi trafficking (PubMed:24768539). Also acts as a regulator of endothelial migration during angiogenesis by controlling the activation of Rho GTPases. The BCR(KLHL20) E3 ubiquitin ligase complex acts as a regulator of neurite outgrowth by mediating ubiquitination and degradation of PDZ-RhoGEF/ARHGEF11 (PubMed:21670212). In case of tumor, the BCR(KLHL20) E3 ubiquitin ligase complex is involved in tumor hypoxia: following hypoxia, the BCR(KLHL20)complex mediates ubiquitination and degradation of PML, potentiating HIF-1 signaling and cancer progression (PubMed:21840486).
UniProtKB/Swiss-Prot Induction:
By hypoxia.

Phenotypes From GWAS Catalog for KLHL20 Gene

Gene Ontology (GO) - Molecular Function for KLHL20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0004842 contributes_to ubiquitin-protein transferase activity IDA 24768539
GO:0005515 protein binding IPI 20389280
GO:0019964 interferon-gamma binding IDA 20389280
genes like me logo Genes that share ontologies with KLHL20: view
genes like me logo Genes that share phenotypes with KLHL20: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL20 Gene

Localization for KLHL20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL20 Gene

Cytoplasm, perinuclear region. Nucleus. Golgi apparatus, trans-Golgi network. Cell projection, axon. Cell projection, dendrite. Note=Localizes in the perinuclear region in normal conditions. Following IFN-alpha or IFN-gamma treatment, it is relocalized and sequestrated to the PML nuclear bodies, preventing DAPK1 ubiquitination (PubMed:20389280). {ECO:0000269 PubMed:20389280}.

Subcellular locations from

COMPARTMENTS
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 KLHL20 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
cytoskeleton 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLHL20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA,IEA 20389280
GO:0005794 Golgi apparatus IDA,IEA --
GO:0005802 trans-Golgi network IDA 24768539
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with KLHL20: view

Pathways & Interactions for KLHL20 Gene

genes like me logo Genes that share pathways with KLHL20: view

UniProtKB/Swiss-Prot Q9Y2M5-KLH20_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KLHL20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006895 Golgi to endosome transport IMP 24768539
GO:0007010 cytoskeleton organization TAS 10888605
GO:0015031 protein transport IEA --
GO:0016567 protein ubiquitination IEA,IDA 20389280
GO:0035455 response to interferon-alpha TAS 20389280
genes like me logo Genes that share ontologies with KLHL20: view

No data available for SIGNOR curated interactions for KLHL20 Gene

Drugs & Compounds for KLHL20 Gene

No Compound Related Data Available

Transcripts for KLHL20 Gene

Unigene Clusters for KLHL20 Gene

Kelch-like family member 20:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL20 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - -
SP2: -
SP3:

Relevant External Links for KLHL20 Gene

GeneLoc Exon Structure for
KLHL20
ECgene alternative splicing isoforms for
KLHL20

Expression for KLHL20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHL20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KLHL20 Gene

This gene is overexpressed in Monocytes (22.9), Neutrophil (18.9), Blymphocyte (11.8), and Tlymphocyte (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLHL20 Gene



Protein tissue co-expression partners for KLHL20 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLHL20 Gene:

KLHL20

SOURCE GeneReport for Unigene cluster for KLHL20 Gene:

Hs.495035

Evidence on tissue expression from TISSUES for KLHL20 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with KLHL20: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL20 Gene

Orthologs for KLHL20 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHL20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL20 34 33
  • 99.78 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL20 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL20 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL20 34 33
  • 95.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KLHL20 34 33
  • 94.53 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl20 16 34 33
  • 92.44 (n)
rat
(Rattus norvegicus)
Mammalia Klhl20 33
  • 92.12 (n)
chicken
(Gallus gallus)
Aves KLHL20 34 33
  • 82.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL20 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11427 33
zebrafish
(Danio rerio)
Actinopterygii klhl20 34 33
  • 74.66 (n)
OneToOne
wufc33f09 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3319 33
fruit fly
(Drosophila melanogaster)
Insecta dbo 34 33
  • 66.78 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta KLHDB_ANOGA 33
  • 66.02 (n)
worm
(Caenorhabditis elegans)
Secernentea R12E2.1 34 33
  • 59.01 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 76 (a)
OneToOne
Species where no ortholog for KLHL20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 KLHL20 Gene

ENSEMBL:
Gene Tree for KLHL20 (if available)
TreeFam:
Gene Tree for KLHL20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLHL20: view image

Paralogs for KLHL20 Gene

genes like me logo Genes that share paralogs with KLHL20: view

Variants for KLHL20 Gene

Sequence variations from dbSNP and Humsavar for KLHL20 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs193920902 uncertain-significance, Malignant tumor of prostate 173,733,943(+) TTTT/TTT coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1000008836 -- 173,749,335(+) A/G/T intron_variant
rs1000011048 -- 173,728,750(+) G/A intron_variant
rs1000072978 -- 173,777,028(+) A/G intron_variant
rs1000092575 -- 173,726,599(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL20 Gene

Variant ID Type Subtype PubMed ID
esv3418161 CNV insertion 20981092
nsv1014827 CNV gain 25217958
nsv3598 CNV deletion 18451855
nsv825420 CNV loss 20364138
nsv831926 CNV gain+loss 17160897
nsv946509 CNV duplication 23825009

Variation tolerance for KLHL20 Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHL20 Gene

Human Gene Mutation Database (HGMD)
KLHL20
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL20 Gene

Disorders for KLHL20 Gene

Additional Disease Information for KLHL20

No disorders were found for KLHL20 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHL20 Gene

Publications for KLHL20 Gene

  1. Novel kelch-like protein, KLEIP, is involved in actin assembly at cell-cell contact sites of Madin-Darby canine kidney cells. (PMID: 14668487) Hara T … Miki T (Molecular biology of the cell 2004) 2 3 4 22 58
  2. The Cullin 3 substrate adaptor KLHL20 mediates DAPK ubiquitination to control interferon responses. (PMID: 20389280) Lee YR … Chen RH (The EMBO journal 2010) 2 3 4 58
  3. The BTB-Kelch protein KLEIP controls endothelial migration and sprouting angiogenesis. (PMID: 17395875) Nacak TG … Kroll J (Circulation research 2007) 3 4 22 58
  4. KLHL39 suppresses colon cancer metastasis by blocking KLHL20-mediated PML and DAPK ubiquitination. (PMID: 25619834) Chen HY … Chen RH (Oncogene 2015) 3 4 58
  5. K33-Linked Polyubiquitination of Coronin 7 by Cul3-KLHL20 Ubiquitin E3 Ligase Regulates Protein Trafficking. (PMID: 24768539) Yuan WC … Chen RH (Molecular cell 2014) 3 4 58

Products for KLHL20 Gene

Sources for KLHL20 Gene

Content
Loading form....