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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
  • Kelch Motif Containing Protein 3
  • Kelch-Like 20 (Drosophila) 2
  • Kelch-Like Protein 20 3
  • KHLHX 3
  • KLHLX 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 Innate Immune System and Class I MHC mediated antigen processing and presentation. 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

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

Genomics for KLHL20 Gene

Regulatory Elements for KLHL20 Gene

Enhancers for KLHL20 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G173412 1.7 FANTOM5 Ensembl ENCODE dbSUPER 22.6 -300.6 -300610 4.6 HDGF TBP FOXA2 ATF1 TBL1XR1 ZNF766 GATA2 EGR1 RELB ETV6 KLHL20 DARS2 CENPL PRDX6 ENSG00000224228 GC01M173428 LOC646870
GH01G173473 1.5 FANTOM5 ENCODE 21.9 -238.1 -238091 7.1 CREB3L1 DMAP1 YY1 ZNF263 SP3 NFYC MEF2D ZNF610 ZNF585B GLIS1 KLHL20 PRDX6 GAS5 CENPL DARS2 LOC100506023 LOC101928673
GH01G173506 1.4 Ensembl ENCODE 22.1 -207.6 -207555 1.8 HDGF PKNOX1 FOXA2 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B GAS5 PRDX6 KLHL20 ANKRD45 RC3H1 ENSG00000238272 SUCO SLC9C2 PIR59510
GH01G173409 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -304.5 -304513 2.6 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 SIN3A EGR1 GATA2 ZNF143 RELB KLHL20 DARS2 CENPL PRDX6 ENSG00000224228 TNFSF4 GC01M173428 LOC646870
GH01G173714 1.2 ENCODE 14.2 +0.5 487 2.2 CREB3L1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC TBX21 SSRP1 DARS2 KLHL20 RC3H1 RPS27P7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLHL20 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000015988 589 2200 MLX CREB3L1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 TBX21 SSRP1

Genomic Location for KLHL20 Gene

Chromosome:
1
Start:
173,714,912 bp from pter
End:
173,786,822 bp from pter
Size:
71,911 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).

    Alternative splice isoforms for KLHL20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL20 Gene

Post-translational modifications for KLHL20 Gene

  • Ubiquitination at posLast=265265
  • Modification sites at PhosphoSitePlus

Other Protein References for KLHL20 Gene

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.

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

CRISPR Products

Inhibitory RNA 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

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,IDA --
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:0006810 transport IEA --
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
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:

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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

Primer Products

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 35
  • 99.78 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHL20 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL20 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL20 34 35
  • 95.13 (n)
cow
(Bos Taurus)
Mammalia KLHL20 34 35
  • 94.53 (n)
mouse
(Mus musculus)
Mammalia Klhl20 34 16 35
  • 92.44 (n)
rat
(Rattus norvegicus)
Mammalia Klhl20 34
  • 92.12 (n)
chicken
(Gallus gallus)
Aves KLHL20 34 35
  • 82.65 (n)
lizard
(Anolis carolinensis)
Reptilia KLHL20 35
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11427 34
zebrafish
(Danio rerio)
Actinopterygii klhl20 34 35
  • 74.66 (n)
wufc33f09 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3319 34
fruit fly
(Drosophila melanogaster)
Insecta dbo 34 35
  • 66.78 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta KLHDB_ANOGA 34
  • 66.02 (n)
worm
(Caenorhabditis elegans)
Secernentea R12E2.1 34 35
  • 59.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for KLHL20 Gene

Variants for KLHL20 Gene

Sequence variations from dbSNP and Humsavar for KLHL20 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs193920902 Uncertain significance 173,733,943(+) AGTCA(-/T)TTTGT nc-transcript-variant, reference, frameshift-variant
rs1000008836 -- 173,749,335(+) TATTC(A/G)TTCTT intron-variant
rs1000011048 -- 173,728,750(+) GTGTA(A/G)AGGGA intron-variant
rs1000072978 -- 173,777,028(+) TAACA(A/G)TATTG intron-variant
rs1000092575 -- 173,726,599(+) TATCC(A/G)CTGTT 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)

Relevant External Links 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

Relevant External Links for KLHL20

Genetic Association Database (GAD)
KLHL20
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Mol. Biol. Cell 2004) 2 3 4 22 64
  2. The Cullin 3 substrate adaptor KLHL20 mediates DAPK ubiquitination to control interferon responses. (PMID: 20389280) Lee Y.R. … Chen R.H. (EMBO J. 2010) 2 3 4 64
  3. The BTB-Kelch protein KLEIP controls endothelial migration and sprouting angiogenesis. (PMID: 17395875) Nacak T.G. … Kroll J. (Circ. Res. 2007) 3 4 22 64
  4. K33-linked polyubiquitination of coronin 7 by Cul3-KLHL20 ubiquitin E3 ligase regulates protein trafficking. (PMID: 24768539) Yuan W.C. … Chen R.H. (Mol. Cell 2014) 3 4 64
  5. PDZ-RhoGEF ubiquitination by Cullin3-KLHL20 controls neurotrophin-induced neurite outgrowth. (PMID: 21670212) Lin M.Y. … Chen R.H. (J. Cell Biol. 2011) 3 4 64

Products for KLHL20 Gene

Sources for KLHL20 Gene

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