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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-Like ECT2 Interacting Protein 3
  • Kelch Motif Containing Protein 3
  • Kelch-Like Family Member 20 3
  • Kelch-Like 20 (Drosophila) 2
  • Kelch-Like 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 Antigen processing- Ubiquitination and Proteasome degradation and Immune System. GO annotations related to this gene include actin binding and interferon-gamma binding. An important paralog of this gene is KLHL5.

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 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 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 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

ENSRs around KLHL20 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for KLHL20 Gene at MOPED

Post-translational modifications for KLHL20 Gene

  • Ubiquitination at Lys 265
  • Modification sites at PhosphoSitePlus

Other Protein References for KLHL20 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Q9Y2M5

UniProtKB/Swiss-Prot:

KLH20_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 KLHL20: view

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
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

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
Jensen Localization Image for KLHL20 Gene COMPARTMENTS Subcellular localization image for KLHL20 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytoskeleton 4
cytosol 4

Gene Ontology (GO) - Cellular Components for KLHL20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IMP 24768539
GO:0030425 dendrite IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 20389280
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:0007010 cytoskeleton organization TAS 10888605
GO:0016567 protein ubiquitination 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:

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 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



SOURCE GeneReport for Unigene cluster for KLHL20 Gene Hs.495035

genes like me logo Genes that share expression patterns with KLHL20: view

Protein tissue co-expression partners for KLHL20 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia KLHL20 35
  • 94.53 (n)
  • 100 (a)
KLHL20 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL20 35
  • 95.13 (n)
  • 100 (a)
KLHL20 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl20 35
  • 92.44 (n)
  • 100 (a)
Klhl20 16
Klhl20 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KLHL20 35
  • 99.78 (n)
  • 100 (a)
KLHL20 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl20 35
  • 92.12 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia KLHL20 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL20 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHL20 35
  • 82.65 (n)
  • 99.01 (a)
KLHL20 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL20 36
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11427 35
zebrafish
(Danio rerio)
Actinopterygii klhl20 35
  • 74.66 (n)
  • 91.81 (a)
wufc33f09 35
klhl20 36
  • 99 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3319 35
African malaria mosquito
(Anopheles gambiae)
Insecta KLHDB_ANOGA 35
  • 66.02 (n)
  • 80.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta dbo 35
  • 66.78 (n)
  • 80.94 (a)
dbo 36
  • 75 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R12E2.1 35
  • 59.01 (n)
  • 60.87 (a)
R12E2.1 36
  • 58 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 76 (a)
OneToOne
Species with no ortholog for KLHL20:
  • 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

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 Sequence Context AA Info Type
rs1555267 -- 173,743,539(+) atttt(A/T)aaaaa intron-variant
rs1570385 -- 173,756,739(+) TCCTA(C/T)GTGAA intron-variant
rs1885679 -- 173,757,994(+) CTGCC(A/G)CATAT intron-variant
rs2180327 -- 173,774,795(+) AAATT(A/C)GTTTA intron-variant
rs2092926 -- 173,759,722(+) tgaac(A/G)atagc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv3598 CNV Loss 18451855
nsv831926 CNV Gain+Loss 17160897
nsv825420 CNV Loss 20364138

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

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 23 67
  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
  3. The BTB-Kelch protein KLEIP controls endothelial migration and sprouting angiogenesis. (PMID: 17395875) Nacak T.G. … Kroll J. (Circ. Res. 2007) 3 23
  4. KLHL39 suppresses colon cancer metastasis by blocking KLHL20-mediated PML and DAPK ubiquitination. (PMID: 25619834) Chen H.Y. … Chen R.H. (Oncogene 2015) 3
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3

Products for KLHL20 Gene

Sources for KLHL20 Gene

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